Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
ORPHA:83473Malformation syndromeAutosomal dominant, Not applicableInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PIK3R2 | phosphoinositide-3-kinase regulatory subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 603157 |
| PIK3R2 | phosphoinositide-3-kinase regulatory subunit 2 | Disease-causing somatic mutation(s) in | gene with protein product | 603157 |
| CCND2 | cyclin D2 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 123833 |
| AKT3 | AKT serine/threonine kinase 3 | Disease-causing germline mutation(s) in | gene with protein product | 611223 |
Фенотипы (HPO)16
Очень частый (80–99%)5
HP:0000238Hydrocephalus
HP:0000256Macrocephaly
HP:0001162Postaxial hand polydactyly
HP:0001355Megalencephaly
HP:0002126Polymicrogyria
Частый (30–79%)11
HP:0000160Narrow mouth
HP:0000316Hypertelorism
HP:0000348High forehead
HP:0000506Telecanthus
HP:0001250Seizure
HP:0001629Ventricular septal defect
HP:0001653Mitral regurgitation
HP:0001671Abnormal cardiac septum morphology
HP:0005105Abnormal nasal morphology
HP:0005280Depressed nasal bridge
HP:0100542Abnormal localization of kidney
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 62 | 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)