Adams-Oliver syndrome
ORPHA:974Malformation syndromeAutosomal dominant, Autosomal recessiveAntenatal, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| NOTCH1 | notch receptor 1 | Disease-causing germline mutation(s) in | gene with protein product | 190198 |
| ARHGAP31 | Rho GTPase activating protein 31 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 610911 |
| DOCK6 | dedicator of cytokinesis 6 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614194 |
| RBPJ | recombination signal binding protein for immunoglobulin kappa J region | Disease-causing germline mutation(s) in | gene with protein product | 147183 |
| EOGT | EGF domain specific O-linked N-acetylglucosamine transferase | Disease-causing germline mutation(s) in | gene with protein product | 614789 |
| DLL4 | delta like canonical Notch ligand 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605185 |
Фенотипы (HPO)46
Очень частый (80–99%)10
HP:0000965Cutis marmorata
HP:0001057Aplasia cutis congenita
HP:0001362Skull defect
HP:0001508Failure to thrive
HP:0002814Abnormality of the lower limb
HP:0002817Abnormality of the upper limb
HP:0004050Absent hand
HP:0008065Aplasia/Hypoplasia of the skin
HP:0008070Sparse hair
HP:0010760Absent toe
Частый (30–79%)13
HP:0000238Hydrocephalus
HP:0000486Strabismus
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0001156Brachydactyly
HP:0001171Split hand
HP:0001636Tetralogy of Fallot
HP:0001641Abnormal pulmonary valve morphology
HP:0001883Talipes
HP:0004935Pulmonary artery atresia
HP:0005916Abnormal metacarpal morphology
HP:0006101Finger syndactyly
HP:0009882Short distal phalanx of finger
Периодический (5–29%)23
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001269Hemiparesis
HP:0001276Hypertonia
HP:0001394Cirrhosis
HP:0001409Portal hypertension
HP:0001541Ascites
HP:0001596Alopecia
HP:0001622Premature birth
HP:0001804Hypoplastic fingernail
HP:0001817Absent fingernail
HP:0001873Thrombocytopenia
HP:0001882Leukopenia
HP:0002040Esophageal varix
HP:0002084Encephalocele
HP:0002092Pulmonary arterial hypertension
HP:0002132Porencephaly
HP:0002239Gastrointestinal hemorrhage
HP:0002353EEG abnormality
HP:0002612Congenital hepatic fibrosis
HP:0006970Periventricular leukomalacia
HP:0010624Aplastic/hypoplastic toenail
HP:0100026Arteriovenous malformation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.44 | Worldwide | Value and class |
| Cases/families | — | 398 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)