Angelman syndrome due to imprinting defect in 15q11-q13
ORPHA:411515Etiological subtypeNot applicableInfancy
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SNRPN | small nuclear ribonucleoprotein polypeptide N | Role in the phenotype of | gene with protein product | 182279 |
| UBE3A | ubiquitin protein ligase E3A | Role in the phenotype of | gene with protein product | 601623 |
| ATP10A | ATPase phospholipid transporting 10A (putative) | Role in the phenotype of | gene with protein product | 605855 |
Фенотипы (HPO)27
Частый (30–79%)13
HP:0000748Inappropriate laughter
HP:0001010Hypopigmentation of the skin
HP:0001250Seizure
HP:0001513Obesity
HP:0001999Abnormal facial shape
HP:0002353EEG abnormality
HP:0002591Polyphagia
HP:0005599Hypopigmentation of hair
HP:0007730Iris hypopigmentation
HP:0008872Feeding difficulties in infancy
HP:0008947Floppy infant
HP:0031936Delayed ability to walk
HP:0040082Happy demeanor
Периодический (5–29%)14
HP:0000154Wide mouth
HP:0000303Mandibular prognathia
HP:0000708Atypical behavior
HP:0000710Hyperorality
HP:0000736Short attention span
HP:0000752Hyperactivity
HP:0001251Ataxia
HP:0001344Absent speech
HP:0002136Broad-based gait
HP:0002307Drooling
HP:0002465Poor speech
HP:0004485Cessation of head growth
HP:0006979Sleep-wake cycle disturbance
HP:0410263Brain imaging abnormality
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)