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nord_1314_2 | Causes of X-linked Retinoschisis | XLRS is caused by a change (mutation) in a gene. Genes provide information and instruction to make proteins, much like a blueprint. Proteins are the building blocks of cells and allow cells to have their unique functions.XLRS is caused by mutations in a gene on the X chromosome called RS1.XLRS is inherited as an X-link... | Causes of X-linked Retinoschisis. XLRS is caused by a change (mutation) in a gene. Genes provide information and instruction to make proteins, much like a blueprint. Proteins are the building blocks of cells and allow cells to have their unique functions.XLRS is caused by mutations in a gene on the X chromosome called ... | 1,314 | X-linked Retinoschisis |
nord_1314_3 | Affects of X-linked Retinoschisis | The prevalence of XLRS is approximatley1 in 10,000. | Affects of X-linked Retinoschisis. The prevalence of XLRS is approximatley1 in 10,000. | 1,314 | X-linked Retinoschisis |
nord_1314_4 | Related disorders of X-linked Retinoschisis | Related disorders of X-linked Retinoschisis. | 1,314 | X-linked Retinoschisis | |
nord_1314_5 | Diagnosis of X-linked Retinoschisis | Diagnosis of XLRS is made by eye examination using various testing modalities. Individuals have reduced vision, schisis that can be seen on examination and imaging, and abnormal electroretinograms (a test that assesses the function of the retina) in most cases. Some individuals also have a family history consistent wit... | Diagnosis of X-linked Retinoschisis. Diagnosis of XLRS is made by eye examination using various testing modalities. Individuals have reduced vision, schisis that can be seen on examination and imaging, and abnormal electroretinograms (a test that assesses the function of the retina) in most cases. Some individuals also... | 1,314 | X-linked Retinoschisis |
nord_1314_6 | Therapies of X-linked Retinoschisis | Treatment
Treatment is generally symptomatic and supportive. Low-vision aids such as large-print textbooks; preferential seating in the front of the classroom; and use of handouts with high contrast can be useful. Treatment of retinoschisis may require the care of a retinal surgeon to address the infrequent complicatio... | Therapies of X-linked Retinoschisis. Treatment
Treatment is generally symptomatic and supportive. Low-vision aids such as large-print textbooks; preferential seating in the front of the classroom; and use of handouts with high contrast can be useful. Treatment of retinoschisis may require the care of a retinal surgeon ... | 1,314 | X-linked Retinoschisis |
nord_1315_0 | Overview of Xeroderma Pigmentosum | SummaryXeroderma pigmentosum (XP) is a rare inherited multisystem disorder characterized by a heightened sensitivity to the DNA damaging effects of ultraviolet radiation (UV). The main source of UV is the sun. The major signs and symptoms of XP can be seen in sun-exposed areas of the body. The effects are greatest on t... | Overview of Xeroderma Pigmentosum. SummaryXeroderma pigmentosum (XP) is a rare inherited multisystem disorder characterized by a heightened sensitivity to the DNA damaging effects of ultraviolet radiation (UV). The main source of UV is the sun. The major signs and symptoms of XP can be seen in sun-exposed areas of the ... | 1,315 | Xeroderma Pigmentosum |
nord_1315_1 | Symptoms of Xeroderma Pigmentosum | Individuals with XP are particularly sensitive to the DNA damaging effects of UV. Sources of UV include the sun, unshielded florescent light bulbs, mercury vapor lights and halogen light bulbs. Symptoms may differ from person to person, but typically impact the skin, eyes, nervous system. Patients with XP may develop m... | Symptoms of Xeroderma Pigmentosum. Individuals with XP are particularly sensitive to the DNA damaging effects of UV. Sources of UV include the sun, unshielded florescent light bulbs, mercury vapor lights and halogen light bulbs. Symptoms may differ from person to person, but typically impact the skin, eyes, nervous sys... | 1,315 | Xeroderma Pigmentosum |
nord_1315_2 | Causes of Xeroderma Pigmentosum | Inheritance
XP is an autosomal recessive genetic disorder. Recessive genetic disorders occur when an individual inherits two non-working copies of a gene for the same trait. One gene comes from the mother and the other from the father. If an individual inherits one working gene and one non-working gene for the conditio... | Causes of Xeroderma Pigmentosum. Inheritance
XP is an autosomal recessive genetic disorder. Recessive genetic disorders occur when an individual inherits two non-working copies of a gene for the same trait. One gene comes from the mother and the other from the father. If an individual inherits one working gene and one ... | 1,315 | Xeroderma Pigmentosum |
nord_1315_3 | Affects of Xeroderma Pigmentosum | XP affects males and females in equal numbers. Some gene mutations associated with XP are more common in certain parts of the world; in these locations there is a higher prevalence of XP. In the United States and Europe, prevalence of XP is about 1 in 1,000,000. In Japan, XP is much more common, affecting 1 in 22,000. ... | Affects of Xeroderma Pigmentosum. XP affects males and females in equal numbers. Some gene mutations associated with XP are more common in certain parts of the world; in these locations there is a higher prevalence of XP. In the United States and Europe, prevalence of XP is about 1 in 1,000,000. In Japan, XP is much mo... | 1,315 | Xeroderma Pigmentosum |
nord_1315_4 | Related disorders of Xeroderma Pigmentosum | There are several genetically related disorders caused by mutations in genes in the nucleotide excision (NER) pathway. People with these disorders demonstrate very different symptoms despite having mutations in some of the same genes as XP patients. These conditions include Cockayne syndrome (CS), cerebro-oculo-facio-s... | Related disorders of Xeroderma Pigmentosum. There are several genetically related disorders caused by mutations in genes in the nucleotide excision (NER) pathway. People with these disorders demonstrate very different symptoms despite having mutations in some of the same genes as XP patients. These conditions include C... | 1,315 | Xeroderma Pigmentosum |
nord_1315_5 | Diagnosis of Xeroderma Pigmentosum | XP is typically first diagnosed on the basis of clinical symptoms (see “Signs & Symptoms”) and many patients with XP do not have a past family history of the condition (see “Causes”).Molecular genetic testing for mutations in the XP genes is available to confirm the diagnosis. | Diagnosis of Xeroderma Pigmentosum. XP is typically first diagnosed on the basis of clinical symptoms (see “Signs & Symptoms”) and many patients with XP do not have a past family history of the condition (see “Causes”).Molecular genetic testing for mutations in the XP genes is available to confirm the diagnosis. | 1,315 | Xeroderma Pigmentosum |
nord_1315_6 | Therapies of Xeroderma Pigmentosum | Prevention
Rigorous sun (UV) protection is necessary beginning as soon as the diagnosis is suspected to prevent continued DNA damage and disease progression. Individuals with XP should avoid exposing the skin and eyes to ultraviolet (UV) radiation. This can be done by wearing protective clothing such as hats, hoods wit... | Therapies of Xeroderma Pigmentosum. Prevention
Rigorous sun (UV) protection is necessary beginning as soon as the diagnosis is suspected to prevent continued DNA damage and disease progression. Individuals with XP should avoid exposing the skin and eyes to ultraviolet (UV) radiation. This can be done by wearing protect... | 1,315 | Xeroderma Pigmentosum |
nord_1316_0 | Overview of XYY Syndrome | XYY syndrome is a rare chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome. Males normally have one X and one Y chromosome. However, individuals with this syndrome have one X and two Y chromosomes. Affected individuals are usually very tall. Many experience severe acne during ... | Overview of XYY Syndrome. XYY syndrome is a rare chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome. Males normally have one X and one Y chromosome. However, individuals with this syndrome have one X and two Y chromosomes. Affected individuals are usually very tall. Many expe... | 1,316 | XYY Syndrome |
nord_1316_1 | Symptoms of XYY Syndrome | Characteristics of XYY syndrome are often subtle and do not necessarily suggest a serious chromosomal disorder. Thus, males with this condition are often undiagnosed or misdiagnosed. The most common physical difference is increased height, which usually becomes apparent after the age of five or six, and results in an a... | Symptoms of XYY Syndrome. Characteristics of XYY syndrome are often subtle and do not necessarily suggest a serious chromosomal disorder. Thus, males with this condition are often undiagnosed or misdiagnosed. The most common physical difference is increased height, which usually becomes apparent after the age of five o... | 1,316 | XYY Syndrome |
nord_1316_2 | Causes of XYY Syndrome | XYY syndrome is a rare chromosomal disorder caused by the presence of an extra Y chromosome. Normally, males have 46 chromosomes including one X and one Y chromosome. Males with XYY syndrome have 47 chromosomes, two of which are Y chromosomes. Most cases of XYY syndrome are due to a cell division error in the sperm pri... | Causes of XYY Syndrome. XYY syndrome is a rare chromosomal disorder caused by the presence of an extra Y chromosome. Normally, males have 46 chromosomes including one X and one Y chromosome. Males with XYY syndrome have 47 chromosomes, two of which are Y chromosomes. Most cases of XYY syndrome are due to a cell divisio... | 1,316 | XYY Syndrome |
nord_1316_3 | Affects of XYY Syndrome | XYY syndrome is a rare chromosomal disorder present at birth that affects only males. It is estimated to occur in approximately one in 1,000 live births. | Affects of XYY Syndrome. XYY syndrome is a rare chromosomal disorder present at birth that affects only males. It is estimated to occur in approximately one in 1,000 live births. | 1,316 | XYY Syndrome |
nord_1316_4 | Related disorders of XYY Syndrome | Symptoms of the following disorders can be similar to those of XYY syndrome. Comparisons may be useful for a differential diagnosis:Klinefelter syndrome is associated with a group of chromosomal disorders in males in which one or more extra X chromosomes are present. Males with the classic form of the disorder have one... | Related disorders of XYY Syndrome. Symptoms of the following disorders can be similar to those of XYY syndrome. Comparisons may be useful for a differential diagnosis:Klinefelter syndrome is associated with a group of chromosomal disorders in males in which one or more extra X chromosomes are present. Males with the cl... | 1,316 | XYY Syndrome |
nord_1316_5 | Diagnosis of XYY Syndrome | A diagnosis of XYY syndrome is made based upon a thorough clinical evaluation, a detailed patient history, and specialized tests (i.e., chromosomal analysis) that detect the presence of an extra Y chromosome (47,XYY karyotype).A diagnosis of XYY syndrome may be made before birth (prenatally) through amniocentesis or ch... | Diagnosis of XYY Syndrome. A diagnosis of XYY syndrome is made based upon a thorough clinical evaluation, a detailed patient history, and specialized tests (i.e., chromosomal analysis) that detect the presence of an extra Y chromosome (47,XYY karyotype).A diagnosis of XYY syndrome may be made before birth (prenatally) ... | 1,316 | XYY Syndrome |
nord_1316_6 | Therapies of XYY Syndrome | TreatmentTreatment of XYY syndrome is symptomatic and supportive. Speech therapy, occupational therapy, or assistance for learning disabilities in the school setting may be of benefit. In most cases, affected individuals are very responsive to early intervention and treatment, and problems may resolve altogether within... | Therapies of XYY Syndrome. TreatmentTreatment of XYY syndrome is symptomatic and supportive. Speech therapy, occupational therapy, or assistance for learning disabilities in the school setting may be of benefit. In most cases, affected individuals are very responsive to early intervention and treatment, and problems ma... | 1,316 | XYY Syndrome |
nord_1317_0 | Overview of Yaws | Yaws is an infectious tropical disease caused by the spirochete (spiral shaped) bacterium known as Treponema pertenue. The disease presents in three stages of which the first and second are easily treated. The third, however, may involve complex changes to the bones in many parts of the body. The first stage is charact... | Overview of Yaws. Yaws is an infectious tropical disease caused by the spirochete (spiral shaped) bacterium known as Treponema pertenue. The disease presents in three stages of which the first and second are easily treated. The third, however, may involve complex changes to the bones in many parts of the body. The firs... | 1,317 | Yaws |
nord_1317_1 | Symptoms of Yaws | Stage 1 yaws typically occurs in early childhood, with peak incidence at about six years of age. A single itchy, strawberry-like growth appears on the skin over which a thin yellow crust forms (papillomatous lesion). This growth, the “mother yaw”, appears at the spot where the organism entered the body (i... | Symptoms of Yaws. Stage 1 yaws typically occurs in early childhood, with peak incidence at about six years of age. A single itchy, strawberry-like growth appears on the skin over which a thin yellow crust forms (papillomatous lesion). This growth, the “mother yaw”, appears at the spot where the organism e... | 1,317 | Yaws |
nord_1317_2 | Causes of Yaws | Yaws is an infectious disease caused by a spiral-shaped bacterium (spirochete) known as Treponema pertenue. Yaws is usually transmitted by direct contact with the infected skin sores of affected individuals. In some cases, yaws may be transmitted through the bite of an infected insect. | Causes of Yaws. Yaws is an infectious disease caused by a spiral-shaped bacterium (spirochete) known as Treponema pertenue. Yaws is usually transmitted by direct contact with the infected skin sores of affected individuals. In some cases, yaws may be transmitted through the bite of an infected insect. | 1,317 | Yaws |
nord_1317_3 | Affects of Yaws | Yaws is a common infectious disease among children living in the tropical areas of Africa, South and Central America, the West Indies, and the Far East. It is not known in the United States. Yaws affects males and females in equal numbers and is most common in children between the ages of six and 10. The prevalence of ... | Affects of Yaws. Yaws is a common infectious disease among children living in the tropical areas of Africa, South and Central America, the West Indies, and the Far East. It is not known in the United States. Yaws affects males and females in equal numbers and is most common in children between the ages of six and 10. T... | 1,317 | Yaws |
nord_1317_4 | Related disorders of Yaws | Symptoms of the following disorders can be similar to those of Yaws. Comparisons may be useful for a differential diagnosis:Bejel is an infectious disease which is rare in the United States but common in certain parts of the world. It is characterized by lesions of the skin and bones and is caused by a bacteria known ... | Related disorders of Yaws. Symptoms of the following disorders can be similar to those of Yaws. Comparisons may be useful for a differential diagnosis:Bejel is an infectious disease which is rare in the United States but common in certain parts of the world. It is characterized by lesions of the skin and bones and is ... | 1,317 | Yaws |
nord_1317_5 | Diagnosis of Yaws | The diagnosis of stage 1 and stage 2 yaws is made by microscopic examination of tissue samples (darkfield examination) from the skin lesions of affected individuals. Stage 3 yaws may be diagnosed by specialized blood tests (i.e., VDRL and treponemal antibodies). | Diagnosis of Yaws. The diagnosis of stage 1 and stage 2 yaws is made by microscopic examination of tissue samples (darkfield examination) from the skin lesions of affected individuals. Stage 3 yaws may be diagnosed by specialized blood tests (i.e., VDRL and treponemal antibodies). | 1,317 | Yaws |
nord_1317_6 | Therapies of Yaws | TreatmentStage 1 and 2 yaws is treated with antibiotics, especially with benzathine penicillin G. A single large dose of these medications usually heals the skin lesions and eliminates the organism. These antibiotic drugs may also be used to prevent this disease in family members and others who are in frequent contact ... | Therapies of Yaws. TreatmentStage 1 and 2 yaws is treated with antibiotics, especially with benzathine penicillin G. A single large dose of these medications usually heals the skin lesions and eliminates the organism. These antibiotic drugs may also be used to prevent this disease in family members and others who are i... | 1,317 | Yaws |
nord_1318_0 | Overview of Yellow Fever | Yellow Fever is a viral infection that causes damage to the liver, kidney, heart and gastrointestinal tract. Major symptoms may include sudden onset of fever, yellowing of the skin (jaundice) and hemorrhage. It occurs predominately in South America, the Caribbean Islands and Africa. The disease is spread through bites ... | Overview of Yellow Fever. Yellow Fever is a viral infection that causes damage to the liver, kidney, heart and gastrointestinal tract. Major symptoms may include sudden onset of fever, yellowing of the skin (jaundice) and hemorrhage. It occurs predominately in South America, the Caribbean Islands and Africa. The diseas... | 1,318 | Yellow Fever |
nord_1318_1 | Symptoms of Yellow Fever | The symptoms of Yellow Fever are the sudden onset of fever and chills along with headache, backache, generalized pain, nausea, vomiting, flushed face and infection of the inner eyelid. The fever usually disappears after three days, reappearing several days later with new symptoms of jaundice, bleeding gums, soft palat... | Symptoms of Yellow Fever. The symptoms of Yellow Fever are the sudden onset of fever and chills along with headache, backache, generalized pain, nausea, vomiting, flushed face and infection of the inner eyelid. The fever usually disappears after three days, reappearing several days later with new symptoms of jaundice,... | 1,318 | Yellow Fever |
nord_1318_2 | Causes of Yellow Fever | Yellow Fever is caused by a virus spread by the bite by an infected mosquito. Initially, a mosquito acquires the disease by ingesting the blood of an infected host. The mosquito then transmits the infection to its next bite victim. | Causes of Yellow Fever. Yellow Fever is caused by a virus spread by the bite by an infected mosquito. Initially, a mosquito acquires the disease by ingesting the blood of an infected host. The mosquito then transmits the infection to its next bite victim. | 1,318 | Yellow Fever |
nord_1318_3 | Affects of Yellow Fever | Yellow Fever affects males and females equally. People living in semitropical or tropical climates are at risk unless they are vaccinated against this infection. People in southern areas of the United States, living near marshes and swamps may be at risk during the summer months. However, most cases of Yellow Fever occ... | Affects of Yellow Fever. Yellow Fever affects males and females equally. People living in semitropical or tropical climates are at risk unless they are vaccinated against this infection. People in southern areas of the United States, living near marshes and swamps may be at risk during the summer months. However, most ... | 1,318 | Yellow Fever |
nord_1318_4 | Related disorders of Yellow Fever | Symptoms of the following disorders can be similar to those of Yellow Fever. Comparisons may be useful for a differential diagnosis:Dengue Fever is a disease also transmitted by a mosquito bite and characterized by a skin rash and a high fever with severe pain in the head and muscles. There is a sudden onset of sympto... | Related disorders of Yellow Fever. Symptoms of the following disorders can be similar to those of Yellow Fever. Comparisons may be useful for a differential diagnosis:Dengue Fever is a disease also transmitted by a mosquito bite and characterized by a skin rash and a high fever with severe pain in the head and muscles.... | 1,318 | Yellow Fever |
nord_1318_5 | Diagnosis of Yellow Fever | Diagnosis of Yellow Fever. | 1,318 | Yellow Fever | |
nord_1318_6 | Therapies of Yellow Fever | The treatment of Yellow Fever is symptomatic and supportive. Preventative measures consist of mosquito control and a vaccine that prevents development of the infection. Immunity from a vaccination usually develops after 10 days and lasts for more than 10 years. In some cases, side effects associated with vaccination ma... | Therapies of Yellow Fever. The treatment of Yellow Fever is symptomatic and supportive. Preventative measures consist of mosquito control and a vaccine that prevents development of the infection. Immunity from a vaccination usually develops after 10 days and lasts for more than 10 years. In some cases, side effects ass... | 1,318 | Yellow Fever |
nord_1319_0 | Overview of Yellow Nail syndrome | Yellow nail syndrome is an extremely rare disorder characterized by malformations affecting the fingernails and toenails, abnormalities affecting the lungs and the airways (respiratory tract) and swelling or puffiness in different parts of the body because of the accumulation of protein-rich fluid (lymph) in the soft l... | Overview of Yellow Nail syndrome. Yellow nail syndrome is an extremely rare disorder characterized by malformations affecting the fingernails and toenails, abnormalities affecting the lungs and the airways (respiratory tract) and swelling or puffiness in different parts of the body because of the accumulation of protei... | 1,319 | Yellow Nail syndrome |
nord_1319_1 | Symptoms of Yellow Nail syndrome | The characteristic finding associated with yellow nail syndrome is the development of yellow, thickened, and excessively curved nails with almost complete stoppage of nail growth. Loss of the strip of hardened skin at the base and sides of a fingernail (cuticles) may also occur. Separation of the nails from the nail be... | Symptoms of Yellow Nail syndrome. The characteristic finding associated with yellow nail syndrome is the development of yellow, thickened, and excessively curved nails with almost complete stoppage of nail growth. Loss of the strip of hardened skin at the base and sides of a fingernail (cuticles) may also occur. Separa... | 1,319 | Yellow Nail syndrome |
nord_1319_2 | Causes of Yellow Nail syndrome | The exact cause of yellow nail syndrome is not known. Most cases seem to occur randomly, for no apparent reason (sporadically). Some researchers believe that yellow nail syndrome is a sporadic, acquired condition. However, some sources in the medical literature currently classify yellow nail syndrome as a primary genet... | Causes of Yellow Nail syndrome. The exact cause of yellow nail syndrome is not known. Most cases seem to occur randomly, for no apparent reason (sporadically). Some researchers believe that yellow nail syndrome is a sporadic, acquired condition. However, some sources in the medical literature currently classify yellow ... | 1,319 | Yellow Nail syndrome |
nord_1319_3 | Affects of Yellow Nail syndrome | Yellow nail syndrome affects males and females in equal numbers. More than 100 cases have been reported in the medical literature. Yellow nail syndrome usually occurs in older adults with most cases occurring in individuals over 50 years of age. Although uncommon, yellow nail syndrome can occur in children.Yellow nail ... | Affects of Yellow Nail syndrome. Yellow nail syndrome affects males and females in equal numbers. More than 100 cases have been reported in the medical literature. Yellow nail syndrome usually occurs in older adults with most cases occurring in individuals over 50 years of age. Although uncommon, yellow nail syndrome c... | 1,319 | Yellow Nail syndrome |
nord_1319_4 | Related disorders of Yellow Nail syndrome | Symptoms of the following disorders can be similar to those of yellow nail syndrome. Comparisons may be useful for a differential diagnosis.Lymphedema-distichiasis syndrome is a rare genetic multisystem disorder characterized by swelling of the legs because of fluid accumulation and the development of extra eyelashes (... | Related disorders of Yellow Nail syndrome. Symptoms of the following disorders can be similar to those of yellow nail syndrome. Comparisons may be useful for a differential diagnosis.Lymphedema-distichiasis syndrome is a rare genetic multisystem disorder characterized by swelling of the legs because of fluid accumulati... | 1,319 | Yellow Nail syndrome |
nord_1319_5 | Diagnosis of Yellow Nail syndrome | A diagnosis of yellow nail syndrome is made based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic findings. The nail changes in yellow nail syndrome are distinct from the nail changes that occur in most other lymphedema syndromes. | Diagnosis of Yellow Nail syndrome. A diagnosis of yellow nail syndrome is made based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic findings. The nail changes in yellow nail syndrome are distinct from the nail changes that occur in most other lymphedema syndromes. | 1,319 | Yellow Nail syndrome |
nord_1319_6 | Therapies of Yellow Nail syndrome | Treatment
The treatment of yellow nail syndrome is geared toward the symptoms present in each individual. Treatment may include antibiotic therapy for repeated respiratory infections. The yellowed, malformed nails may improve without therapy. In some cases, the changes may be permanent. Vitamin E has been used to treat... | Therapies of Yellow Nail syndrome. Treatment
The treatment of yellow nail syndrome is geared toward the symptoms present in each individual. Treatment may include antibiotic therapy for repeated respiratory infections. The yellowed, malformed nails may improve without therapy. In some cases, the changes may be permanen... | 1,319 | Yellow Nail syndrome |
nord_1320_0 | Overview of Yunis Varon Syndrome | Yunis-Varon syndrome is a rare genetic multisystem disorder with defects affecting mostly the skeletal system, the nervous system, and ectodermal tissue (hair and teeth). It is characterized by large fontanelles, clavicular hypoplasia, characteristic facial features and/or abnormalities of fingers and toes. Characteris... | Overview of Yunis Varon Syndrome. Yunis-Varon syndrome is a rare genetic multisystem disorder with defects affecting mostly the skeletal system, the nervous system, and ectodermal tissue (hair and teeth). It is characterized by large fontanelles, clavicular hypoplasia, characteristic facial features and/or abnormalitie... | 1,320 | Yunis Varon Syndrome |
nord_1320_1 | Symptoms of Yunis Varon Syndrome | Yunis-Varon syndrome is a rare genetic multisystem disorder characterized by large fontanelles, clavicular hypoplasia, characteristic facial features and/or abnormalities of fingers and toes. Characteristic features may include microcephaly, ear abnormalities, anteverted nares, midfacial hypoplasia, tented upper lip an... | Symptoms of Yunis Varon Syndrome. Yunis-Varon syndrome is a rare genetic multisystem disorder characterized by large fontanelles, clavicular hypoplasia, characteristic facial features and/or abnormalities of fingers and toes. Characteristic features may include microcephaly, ear abnormalities, anteverted nares, midfaci... | 1,320 | Yunis Varon Syndrome |
nord_1320_2 | Causes of Yunis Varon Syndrome | Yunis-Varon syndrome is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits a changed gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually wil... | Causes of Yunis Varon Syndrome. Yunis-Varon syndrome is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits a changed gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier ... | 1,320 | Yunis Varon Syndrome |
nord_1320_3 | Affects of Yunis Varon Syndrome | Yunis-Varon syndrome is an extremely rare inherited disorder that affects males and females in equal numbers. 25 cases from 19 families have been reported since the disorder’s initial description in the medical literature in 1980. | Affects of Yunis Varon Syndrome. Yunis-Varon syndrome is an extremely rare inherited disorder that affects males and females in equal numbers. 25 cases from 19 families have been reported since the disorder’s initial description in the medical literature in 1980. | 1,320 | Yunis Varon Syndrome |
nord_1320_4 | Related disorders of Yunis Varon Syndrome | Symptoms of the following disorders can be similar to those of Yunis-Varon syndrome. Comparisons may be useful for a differential diagnosis: Cleidocranial dysplasia is a rare genetic disorder characterized by the association of the three following features: absence or severe underdevelopment (hypoplasia) of one or both... | Related disorders of Yunis Varon Syndrome. Symptoms of the following disorders can be similar to those of Yunis-Varon syndrome. Comparisons may be useful for a differential diagnosis: Cleidocranial dysplasia is a rare genetic disorder characterized by the association of the three following features: absence or severe u... | 1,320 | Yunis Varon Syndrome |
nord_1320_5 | Diagnosis of Yunis Varon Syndrome | Yunis-Varon syndrome may be diagnosed or confirmed after birth based upon a thorough clinical evaluation, the identification of characteristic findings (e.g., hypoplastic claviculae, limb abnormalities, sparse hair, characteristic facial features). Genetic testing for mutations in FIG4 can also confirm a diagnosis. Cer... | Diagnosis of Yunis Varon Syndrome. Yunis-Varon syndrome may be diagnosed or confirmed after birth based upon a thorough clinical evaluation, the identification of characteristic findings (e.g., hypoplastic claviculae, limb abnormalities, sparse hair, characteristic facial features). Genetic testing for mutations in FIG... | 1,320 | Yunis Varon Syndrome |
nord_1320_6 | Therapies of Yunis Varon Syndrome | Treatment
Specific therapies for individuals with Yunis-Varon syndrome are symptomatic and supportive. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, specialists who diagnose and treat skeletal abnormalities (orthopedists), physical therapists, physicians who specialize in diagno... | Therapies of Yunis Varon Syndrome. Treatment
Specific therapies for individuals with Yunis-Varon syndrome are symptomatic and supportive. Treatment may require the coordinated efforts of a team of specialists. Pediatricians, specialists who diagnose and treat skeletal abnormalities (orthopedists), physical therapists, ... | 1,320 | Yunis Varon Syndrome |
nord_1321_0 | Overview of ZC4H2-Associated Rare Disorders (ZARD) | SummaryZC4H2 Associated Rare Disorders (ZARD) 1 is an ultra-rare genetic condition with central and peripheral nervous system involvement caused by harmful changes (pathogenic variants) of the ZC4H2 gene. ZC4H2 is located on the X chromosome and encodes the ZC4H2 (zinc finger C4H2-type containing) protein essential for... | Overview of ZC4H2-Associated Rare Disorders (ZARD). SummaryZC4H2 Associated Rare Disorders (ZARD) 1 is an ultra-rare genetic condition with central and peripheral nervous system involvement caused by harmful changes (pathogenic variants) of the ZC4H2 gene. ZC4H2 is located on the X chromosome and encodes the ZC4H2 (zin... | 1,321 | ZC4H2-Associated Rare Disorders (ZARD) |
nord_1321_1 | Symptoms of ZC4H2-Associated Rare Disorders (ZARD) | Patients with ZARD can have multiple disabilities and health concerns. These can include orthopedic and musculoskeletal conditions and neurological/neuromuscular conditions. The most common clinical features include:• arthrogryposis multiplex congenita (multiple joint contractures before birth that involve at least two... | Symptoms of ZC4H2-Associated Rare Disorders (ZARD). Patients with ZARD can have multiple disabilities and health concerns. These can include orthopedic and musculoskeletal conditions and neurological/neuromuscular conditions. The most common clinical features include:• arthrogryposis multiplex congenita (multiple joint... | 1,321 | ZC4H2-Associated Rare Disorders (ZARD) |
nord_1321_2 | Causes of ZC4H2-Associated Rare Disorders (ZARD) | ZARD is caused by harmful changes of the X chromosome linked ZC4H2 gene. Males and females can be affected. ZC4H2 gene variants can be inherited or occur spontaneously, meaning there is no family history of the disorder (de novo). 1Males have one X chromosome and one Y chromosome. If a male has a pathogenic ZC4H2 gene ... | Causes of ZC4H2-Associated Rare Disorders (ZARD). ZARD is caused by harmful changes of the X chromosome linked ZC4H2 gene. Males and females can be affected. ZC4H2 gene variants can be inherited or occur spontaneously, meaning there is no family history of the disorder (de novo). 1Males have one X chromosome and one Y ... | 1,321 | ZC4H2-Associated Rare Disorders (ZARD) |
nord_1321_3 | Affects of ZC4H2-Associated Rare Disorders (ZARD) | Harmful ZC4H2 gene variants have been identified in many ethnic groups, with both males and females being affected who present with a broad spectrum of severity. To date, there are less than 250 diagnosed patients with ZARD worldwide. 1,3,6,7,9-21
About 30% are males and 70% are females. 7 | Affects of ZC4H2-Associated Rare Disorders (ZARD). Harmful ZC4H2 gene variants have been identified in many ethnic groups, with both males and females being affected who present with a broad spectrum of severity. To date, there are less than 250 diagnosed patients with ZARD worldwide. 1,3,6,7,9-21
About 30% are males ... | 1,321 | ZC4H2-Associated Rare Disorders (ZARD) |
nord_1321_4 | Related disorders of ZC4H2-Associated Rare Disorders (ZARD) | There are several genetic diseases that may be characterized by similar or overlapping symptoms to those that may occur with ZARD with varying clinical severity, including arthrogryposis multiplex congenita, hand and feet deformities such as talipes equinovarus and/or camptodactyly.Clinical genetic differential diagnos... | Related disorders of ZC4H2-Associated Rare Disorders (ZARD). There are several genetic diseases that may be characterized by similar or overlapping symptoms to those that may occur with ZARD with varying clinical severity, including arthrogryposis multiplex congenita, hand and feet deformities such as talipes equinovar... | 1,321 | ZC4H2-Associated Rare Disorders (ZARD) |
nord_1321_5 | Diagnosis of ZC4H2-Associated Rare Disorders (ZARD) | A diagnosis of ZARD may be considered based upon a thorough clinical evaluation, a detailed patient and family history and the identification of characteristic findings. Molecular genetic testing for ZC4H2 gene variants (gene sequencing, panel next generation sequencing and microarray analysis) is available to confirm ... | Diagnosis of ZC4H2-Associated Rare Disorders (ZARD). A diagnosis of ZARD may be considered based upon a thorough clinical evaluation, a detailed patient and family history and the identification of characteristic findings. Molecular genetic testing for ZC4H2 gene variants (gene sequencing, panel next generation sequenc... | 1,321 | ZC4H2-Associated Rare Disorders (ZARD) |
nord_1321_6 | Therapies of ZC4H2-Associated Rare Disorders (ZARD) | TreatmentThere is currently no cure or effective treatment for this ultra-rare condition. Current treatments consist mainly of different supportive therapies and medical interventions when necessary. However, there is an observed correlation between early therapeutic and supportive interventions (pre-verbal and speech ... | Therapies of ZC4H2-Associated Rare Disorders (ZARD). TreatmentThere is currently no cure or effective treatment for this ultra-rare condition. Current treatments consist mainly of different supportive therapies and medical interventions when necessary. However, there is an observed correlation between early therapeutic... | 1,321 | ZC4H2-Associated Rare Disorders (ZARD) |
nord_1322_0 | Overview of Zellweger Spectrum Disorders | Summary Zellweger spectrum disorders (ZSD) are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process due to their shared biochemical basis. Collectively, they form a spectrum or contin... | Overview of Zellweger Spectrum Disorders. Summary Zellweger spectrum disorders (ZSD) are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process due to their shared biochemical basis. Co... | 1,322 | Zellweger Spectrum Disorders |
nord_1322_1 | Symptoms of Zellweger Spectrum Disorders | The symptoms of ZSD vary greatly from one individual to another. The specific number and severity of symptoms present in an individual are highly variable and affected individuals will not have all of the symptoms discussed below. The most severe forms are usually noticeable shortly after birth. Severely affected infan... | Symptoms of Zellweger Spectrum Disorders. The symptoms of ZSD vary greatly from one individual to another. The specific number and severity of symptoms present in an individual are highly variable and affected individuals will not have all of the symptoms discussed below. The most severe forms are usually noticeable sh... | 1,322 | Zellweger Spectrum Disorders |
nord_1322_2 | Causes of Zellweger Spectrum Disorders | ZSD develop due to changes (mutations) of one of 13 different genes involved in the creation and proper function of peroxisomes (peroxisome biogenesis). These 13 genes contain instructions for creating (encoding) proteins known as peroxins that are essential for the proper development of peroxisomes. Approximately 61% ... | Causes of Zellweger Spectrum Disorders. ZSD develop due to changes (mutations) of one of 13 different genes involved in the creation and proper function of peroxisomes (peroxisome biogenesis). These 13 genes contain instructions for creating (encoding) proteins known as peroxins that are essential for the proper develo... | 1,322 | Zellweger Spectrum Disorders |
nord_1322_3 | Affects of Zellweger Spectrum Disorders | Determining the true incidence of ZSD in the general population can be difficult. ZSD are usually diagnosed at birth, although some cases can be diagnosed later in life. ZSD affect individuals of all ethnic groups. In the United States, the estimated incidence of these disorders is somewhere in between 1 in 50,000 and ... | Affects of Zellweger Spectrum Disorders. Determining the true incidence of ZSD in the general population can be difficult. ZSD are usually diagnosed at birth, although some cases can be diagnosed later in life. ZSD affect individuals of all ethnic groups. In the United States, the estimated incidence of these disorders... | 1,322 | Zellweger Spectrum Disorders |
nord_1322_4 | Related disorders of Zellweger Spectrum Disorders | Symptoms of the following disorders can be similar to those of Zellweger spectrum disorders. Comparisons may be useful for a differential diagnosis. Rhizomelic chondrodysplasia punctata (RCDP) spectrum are a group of rare disorders that are also classified as peroxisomal biogenesis disorders. RCDP is characterized by s... | Related disorders of Zellweger Spectrum Disorders. Symptoms of the following disorders can be similar to those of Zellweger spectrum disorders. Comparisons may be useful for a differential diagnosis. Rhizomelic chondrodysplasia punctata (RCDP) spectrum are a group of rare disorders that are also classified as peroxisom... | 1,322 | Zellweger Spectrum Disorders |
nord_1322_5 | Diagnosis of Zellweger Spectrum Disorders | A ZSD diagnosis is suspected based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic findings. ZSD can be diagnosed by showing peroxisome abnormalities that can be monitored in body fluids. The primary step in ZSD diagnosis involves the detection of elevated very long ... | Diagnosis of Zellweger Spectrum Disorders. A ZSD diagnosis is suspected based upon a thorough clinical evaluation, a detailed patient history and identification of characteristic findings. ZSD can be diagnosed by showing peroxisome abnormalities that can be monitored in body fluids. The primary step in ZSD diagnosis in... | 1,322 | Zellweger Spectrum Disorders |
nord_1322_6 | Therapies of Zellweger Spectrum Disorders | Treatment
In 2015, Cholbam (cholic acid) was approved as the first treatment for pediatric and adult patients with bile acid synthesis disorders due to single enzyme defects and for patients with peroxisomal disorders (including ZSD). https://www.fda.gov/drugs/drug-approvals-and-databases/drug-trials-snapshot-cholbam-... | Therapies of Zellweger Spectrum Disorders. Treatment
In 2015, Cholbam (cholic acid) was approved as the first treatment for pediatric and adult patients with bile acid synthesis disorders due to single enzyme defects and for patients with peroxisomal disorders (including ZSD). https://www.fda.gov/drugs/drug-approvals-... | 1,322 | Zellweger Spectrum Disorders |
nord_1323_0 | Overview of Zollinger-Ellison Syndrome | Zollinger-Ellison syndrome (ZES) is characterized by the development of a tumor (gastrinoma) or tumors that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. Many affected individuals develop multiple gastrinomas, which are thought to have the potential to be cancerous (m... | Overview of Zollinger-Ellison Syndrome. Zollinger-Ellison syndrome (ZES) is characterized by the development of a tumor (gastrinoma) or tumors that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. Many affected individuals develop multiple gastrinomas, which are thought ... | 1,323 | Zollinger-Ellison Syndrome |
nord_1323_1 | Symptoms of Zollinger-Ellison Syndrome | ZES is characterized by abnormally increased acid production (gastric hypersecretion), excessively high levels of gastrin in the blood (hypergastrinemia), and ulceration of the stomach or the upper region of the small intestine (duodenum) due to gastrin-producing tumors (gastrinomas). In most patients, gastrinomas aris... | Symptoms of Zollinger-Ellison Syndrome. ZES is characterized by abnormally increased acid production (gastric hypersecretion), excessively high levels of gastrin in the blood (hypergastrinemia), and ulceration of the stomach or the upper region of the small intestine (duodenum) due to gastrin-producing tumors (gastrino... | 1,323 | Zollinger-Ellison Syndrome |
nord_1323_2 | Causes of Zollinger-Ellison Syndrome | In most individuals with ZES, the condition appears to occur spontaneously for unknown reasons (sporadically). However, in approximately 25 percent of affected individuals, ZES occurs in association with the genetic syndrome known as multiple endocrine neoplasia type 1 (MEN-1). In most patients, MEN-1 is inherited as a... | Causes of Zollinger-Ellison Syndrome. In most individuals with ZES, the condition appears to occur spontaneously for unknown reasons (sporadically). However, in approximately 25 percent of affected individuals, ZES occurs in association with the genetic syndrome known as multiple endocrine neoplasia type 1 (MEN-1). In ... | 1,323 | Zollinger-Ellison Syndrome |
nord_1323_3 | Affects of Zollinger-Ellison Syndrome | ZES may become apparent at any age. However, symptom onset usually occurs between ages 30 and 60 years. The exact frequency of ZES in the general population is unknown. However, some researchers estimate that ZES represents less than one percent of peptic ulcers. | Affects of Zollinger-Ellison Syndrome. ZES may become apparent at any age. However, symptom onset usually occurs between ages 30 and 60 years. The exact frequency of ZES in the general population is unknown. However, some researchers estimate that ZES represents less than one percent of peptic ulcers. | 1,323 | Zollinger-Ellison Syndrome |
nord_1323_4 | Related disorders of Zollinger-Ellison Syndrome | As discussed above, Zollinger-Ellison syndrome may occur as a component of the following disorder:Multiple endocrine neoplasia type 1 (MEN-1) is a genetic disorder in which tumors may arise from cells of various endocrine glands, such as the parathyroid glands, the pancreas, and the pituitary gland. Individuals with ZE... | Related disorders of Zollinger-Ellison Syndrome. As discussed above, Zollinger-Ellison syndrome may occur as a component of the following disorder:Multiple endocrine neoplasia type 1 (MEN-1) is a genetic disorder in which tumors may arise from cells of various endocrine glands, such as the parathyroid glands, the pancr... | 1,323 | Zollinger-Ellison Syndrome |
nord_1323_5 | Diagnosis of Zollinger-Ellison Syndrome | The diagnosis of ZES is based upon a thorough clinical evaluation, a detailed patient history, and specialized tests, including certain laboratory studies and advanced imaging techniques. ZES may be suggested by various factors, including the development of frequent or multiple peptic ulcers that are resistant to certa... | Diagnosis of Zollinger-Ellison Syndrome. The diagnosis of ZES is based upon a thorough clinical evaluation, a detailed patient history, and specialized tests, including certain laboratory studies and advanced imaging techniques. ZES may be suggested by various factors, including the development of frequent or multiple ... | 1,323 | Zollinger-Ellison Syndrome |
nord_1323_6 | Therapies of Zollinger-Ellison Syndrome | Surgical Therapy
When possible (e.g., if there is no evidence of metastasis of a single tumor), complete surgical removal of the gastrinoma may be considered the optimal treatment for ZES. Evidence suggests that complete and curative removal of gastrinoma is possible in approximately 20 to 30 percent of individuals wit... | Therapies of Zollinger-Ellison Syndrome. Surgical Therapy
When possible (e.g., if there is no evidence of metastasis of a single tumor), complete surgical removal of the gastrinoma may be considered the optimal treatment for ZES. Evidence suggests that complete and curative removal of gastrinoma is possible in approxim... | 1,323 | Zollinger-Ellison Syndrome |
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