Cataract-intellectual disability-hypogonadism syndrome
ORPHA:1387Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены2
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| RAB3GAP1 | RAB3 GTPase activating protein catalytic subunit 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602536 |
| RAB3GAP2 | RAB3 GTPase activating non-catalytic protein subunit 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609275 |
Фенотипы (HPO)30
Очень частый (80–99%)14
HP:0000044Hypogonadotropic hypogonadism
HP:0000221Furrowed tongue
HP:0000232Everted lower lip vermilion
HP:0000252Microcephaly
HP:0000272Malar flattening
HP:0000322Short philtrum
HP:0000518Cataract
HP:0001249Intellectual disability
HP:0002162Low posterior hairline
HP:0004322Short stature
HP:0007477Abnormal dermatoglyphics
HP:0007495Prematurely aged appearance
HP:0008872Feeding difficulties in infancy
HP:0011800Midface retrusion
Частый (30–79%)13
HP:0000028Cryptorchidism
HP:0000218High palate
HP:0000248Brachycephaly
HP:0000347Micrognathia
HP:0000601Hypotelorism
HP:0000692Tooth malposition
HP:0001155Abnormality of the hand
HP:0003307Hyperlordosis
HP:0005280Depressed nasal bridge
HP:0008388Abnormal toenail morphology
HP:0009465Ulnar deviation of finger
HP:0009832Abnormal distal phalanx morphology of finger
HP:0000358Posteriorly rotated ears
Периодический (5–29%)3
HP:0002120Cerebral cortical atrophy
HP:0002650Scoliosis
HP:0009738Abnormality of the antihelix
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)