Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
Ehlers-Danlos syndrome with periventricular heterotopia |
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INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) |
ISG15
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| FLNA
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Citations in the biomedical literature:
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
Ehlers-Danlos syndrome with periventricular heterotopia |
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Synonym(s): - MSMD due to complete ISG15 deficiency
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Synonym(s): - EDS with periventricular heterotopia
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Classification (Orphanet): - Rare genetic disease - Rare immune disease
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Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease
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Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
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Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -
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Epidemiological data: Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
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Epidemiological data: Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: x-linked dominant
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External references: No OMIM references No MeSH references | |
External references: 1 OMIM reference - No MeSH references
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Ehlers-Danlos syndrome with periventricular heterotopia |
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Very frequent - Gastric / pyloric stenosis - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hemorrhage / hemorrhagic syndrome / excessive / long-lasting bleeding - Herniae - Scoliosis - X-linked dominant inheritance
Frequent - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Cardiac valvulopathy - Hyperextensible joints / articular hyperlaxity - Intellectual deficit / mental / psychomotor retardation / learning disability - Patent ductus arteriosus - Seizures / epilepsy / absences / spasms / status epilepticus - Structural anomalies of the nervous system - Thin skin
Occasional - Aortic root dilatation / dilation / aneurysm - Patella dislocation - Shoulder dislocation
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Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency |
(no data available)
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