3MC syndrome
ORPHA:293843Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| COLEC10 | collectin subfamily member 10 | Disease-causing germline mutation(s) in | gene with protein product | 607620 |
| MASP1 | MBL associated serine protease 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600521 |
| COLEC11 | collectin subfamily member 11 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 612502 |
Фенотипы (HPO)30
Очень частый (80–99%)6
HP:0000365Hearing impairment
HP:0000508Ptosis
HP:0000537Epicanthus inversus
HP:0002553Highly arched eyebrow
HP:0002974Radioulnar synostosis
HP:0006394Limited pronation/supination of forearm
Частый (30–79%)17
HP:0000202Orofacial cleft
HP:0000316Hypertelorism
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0000581Blepharophimosis
HP:0000593Abnormal anterior chamber morphology
HP:0001249Intellectual disability
HP:0001363Craniosynostosis
HP:0001540Diastasis recti
HP:0002265Large fleshy ears
HP:0002558Supernumerary nipple
HP:0002650Scoliosis
HP:0002714Downturned corners of mouth
HP:0003298Spina bifida occulta
HP:0003307Hyperlordosis
HP:0008689Bilateral cryptorchidism
HP:0008897Postnatal growth retardation
Периодический (5–29%)7
HP:0000369Low-set ears
HP:0000377Abnormal pinna morphology
HP:0001537Umbilical hernia
HP:0002825Caudal appendage
HP:0002827Hip dislocation
HP:0005105Abnormal nasal morphology
HP:0040016Prominent coccyx
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 32 | 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)