Miller-Dieker syndrome
ORPHA:531Malformation syndromeAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| HIC1 | HIC ZBTB transcriptional repressor 1 | Candidate gene tested in | gene with protein product | 603825 |
| YWHAE | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Role in the phenotype of | gene with protein product | 605066 |
| PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Role in the phenotype of | gene with protein product | 601545 |
Фенотипы (HPO)18
Очень частый (80–99%)10
HP:0000177Abnormality of upper lip
HP:0000286Epicanthus
HP:0000348High forehead
HP:0000463Anteverted nares
HP:0001250Seizure
HP:0001339Lissencephaly
HP:0001510Growth delay
HP:0002120Cerebral cortical atrophy
HP:0002353EEG abnormality
HP:0003196Short nose
Частый (30–79%)2
HP:0001561Polyhydramnios
HP:0001626Abnormality of the cardiovascular system
Периодический (5–29%)6
HP:0000112Nephropathy
HP:0000960Sacral dimple
HP:0001251Ataxia
HP:0001539Omphalocele
HP:0002079Hypoplasia of the corpus callosum
HP:0004209Clinodactyly of the 5th finger
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)