Prader-Willi syndrome due to imprinting mutation
ORPHA:177910Etiological subtypeNot applicableAntenatal, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SNORD115@ | small nucleolar RNA, C/D box 115 cluster | Role in the phenotype of | Non-coding RNA | 609837 |
| SNRPN | small nuclear ribonucleoprotein polypeptide N | Role in the phenotype of | gene with protein product | 182279 |
| MAGEL2 | MAGE family member L2 | Role in the phenotype of | gene with protein product | 605283 |
| NDN | necdin, MAGE family member | Role in the phenotype of | gene with protein product | 602117 |
| SNORD116@ | small nucleolar RNA, C/D box 116 cluster | Role in the phenotype of | Non-coding RNA | 605436 |
Фенотипы (HPO)18
Частый (30–79%)11
HP:0000708Atypical behavior
HP:0001263Global developmental delay
HP:0001319Neonatal hypotonia
HP:0001513Obesity
HP:0001558Decreased fetal movement
HP:0001773Short foot
HP:0001999Abnormal facial shape
HP:0002591Polyphagia
HP:0004322Short stature
HP:0008872Feeding difficulties in infancy
HP:0200055Small hand
Периодический (5–29%)2
HP:0004039Abnormality of ulnar metaphysis
HP:0004283Narrow palm
Очень редкий (1–4%)5
HP:0000044Hypogonadotropic hypogonadism
HP:0001010Hypopigmentation of the skin
HP:0003241External genital hypoplasia
HP:0005599Hypopigmentation of hair
HP:0007730Iris hypopigmentation
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)