Growth delay-intellectual disability-hepatopathy syndrome
ORPHA:541423DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)35
Очень частый (80–99%)6
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0031831Decreased serum zinc
Частый (30–79%)7
HP:0001252Hypotonia
HP:0001344Absent speech
HP:0001395Hepatic fibrosis
HP:0001396Cholestasis
HP:0001397Hepatic steatosis
HP:0002719Recurrent infections
HP:0011968Feeding difficulties
Периодический (5–29%)22
HP:0410263Brain imaging abnormality
HP:0000081Duplicated collecting system
HP:0000126Hydronephrosis
HP:0000252Microcephaly
HP:0000293Full cheeks
HP:0000311Round face
HP:0000407Sensorineural hearing impairment
HP:0000729Autistic behavior
HP:0000819Diabetes mellitus
HP:0000974Hyperextensible skin
HP:0001027Soft, doughy skin
HP:0001250Seizure
HP:0001257Spasticity
HP:0001382Joint hypermobility
HP:0001399Hepatic failure
HP:0001433Hepatosplenomegaly
HP:0001562Oligohydramnios
HP:0006129Drumstick terminal phalanges
HP:0010648Dermal translucency
HP:0011342Mild global developmental delay
HP:0100511Abnormality of vitamin D metabolism
HP:0100633Esophagitis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)