Arthrogryposis-renal dysfunction-cholestasis syndrome
ORPHA:2697Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены2
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| VPS33B | VPS33B late endosome and lysosome associated | Disease-causing germline mutation(s) in | gene with protein product | 608552 |
| VIPAS39 | VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog | Disease-causing germline mutation(s) in | gene with protein product | 613401 |
Фенотипы (HPO)32
Очень частый (80–99%)2
HP:0001531Failure to thrive in infancy
HP:0002804Arthrogryposis multiplex congenita
Частый (30–79%)15
HP:0000124Renal tubular dysfunction
HP:0000962Hyperkeratosis
HP:0001249Intellectual disability
HP:0001994Renal Fanconi syndrome
HP:0002028Chronic diarrhea
HP:0002240Hepatomegaly
HP:0002719Recurrent infections
HP:0002908Conjugated hyperbilirubinemia
HP:0006566Neonatal cholestatic liver disease
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008064Ichthyosis
HP:0008780Congenital bilateral hip dislocation
HP:0011873Abnormal platelet count
HP:0012483Abnormal alpha granules
HP:0030402Abnormal platelet aggregation
Периодический (5–29%)14
HP:0000121Nephrocalcinosis
HP:0000252Microcephaly
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000821Hypothyroidism
HP:0000938Osteopenia
HP:0000973Cutis laxa
HP:0001252Hypotonia
HP:0001558Decreased fetal movement
HP:0001562Oligohydramnios
HP:0002756Pathologic fracture
HP:0003202Skeletal muscle atrophy
HP:0005248Intrahepatic biliary atresia
HP:0009806Nephrogenic diabetes insipidus
Исключён (0%)1
HP:0030948Elevated gamma-glutamyltransferase level
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)