Micro syndrome
ORPHA:2510Malformation syndromeAutosomal recessiveChildhood
Ассоциированные гены4
| 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 |
| RAB18 | RAB18, member RAS oncogene family | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602207 |
| TBC1D20 | TBC1 domain family member 20 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 611663 |
Фенотипы (HPO)42
Очень частый (80–99%)22
HP:0000028Cryptorchidism
HP:0000218High palate
HP:0000252Microcephaly
HP:0000322Short philtrum
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000482Microcornea
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000648Optic atrophy
HP:0000823Delayed puberty
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001302Pachygyria
HP:0001339Lissencephaly
HP:0001387Joint stiffness
HP:0003196Short nose
HP:0004322Short stature
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0010864Intellectual disability, severe
HP:0100704Cerebral visual impairment
Частый (30–79%)13
HP:0000358Posteriorly rotated ears
HP:0000060Clitoral hypoplasia
HP:0000064Hypoplastic labia minora
HP:0000347Micrognathia
HP:0000400Macrotia
HP:0000649Abnormality of visual evoked potentials
HP:0001511Intrauterine growth retardation
HP:0002120Cerebral cortical atrophy
HP:0002230Generalized hirsutism
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0007703Abnormality of retinal pigmentation
HP:0008736Hypoplasia of penis
Периодический (5–29%)7
HP:0000126Hydronephrosis
HP:0000480Retinal coloboma
HP:0001250Seizure
HP:0001317Abnormal cerebellum morphology
HP:0001320Cerebellar vermis hypoplasia
HP:0009830Peripheral neuropathy
HP:0100542Abnormal localization of kidney
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 203 | 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)