COFS syndrome
ORPHA:1466Clinical subtypeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ERCC2 | ERCC excision repair 2, TFIIH core complex helicase subunit | Disease-causing germline mutation(s) in | gene with protein product | 126340 |
| ERCC6 | ERCC excision repair 6, chromatin remodeling factor | Disease-causing germline mutation(s) in | gene with protein product | 609413 |
| ERCC5 | ERCC excision repair 5, endonuclease | Disease-causing germline mutation(s) in | gene with protein product | 133530 |
| ERCC1 | ERCC excision repair 1, endonuclease non-catalytic subunit | Disease-causing germline mutation(s) in | gene with protein product | 126380 |
Фенотипы (HPO)33
Очень частый (80–99%)20
HP:0000232Everted lower lip vermilion
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0001252Hypotonia
HP:0001276Hypertonia
HP:0001387Joint stiffness
HP:0001522Death in infancy
HP:0002120Cerebral cortical atrophy
HP:0002514Cerebral calcification
HP:0002804Arthrogryposis multiplex congenita
HP:0004322Short stature
HP:0005105Abnormal nasal morphology
HP:0005487Prominent metopic ridge
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0008872Feeding difficulties in infancy
HP:0011344Severe global developmental delay
HP:0100490Camptodactyly of finger
Частый (30–79%)9
HP:0000135Hypogonadism
HP:0000407Sensorineural hearing impairment
HP:0000470Short neck
HP:0000505Visual impairment
HP:0000992Cutaneous photosensitivity
HP:0001250Seizure
HP:0001315Reduced tendon reflexes
HP:0001511Intrauterine growth retardation
HP:0010978Abnormality of immune system physiology
Периодический (5–29%)4
HP:0000648Optic atrophy
HP:0001883Talipes
HP:0007703Abnormality of retinal pigmentation
HP:0009830Peripheral neuropathy
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)