Cockayne syndrome type 2
ORPHA:90322Clinical subtypeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ERCC6 | ERCC excision repair 6, chromatin remodeling factor | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 609413 |
| ERCC8 | ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Disease-causing germline mutation(s) in | gene with protein product | 609412 |
| ERCC1 | ERCC excision repair 1, endonuclease non-catalytic subunit | Disease-causing germline mutation(s) in | gene with protein product | 126380 |
Фенотипы (HPO)41
Очень частый (80–99%)6
HP:0001249Intellectual disability
HP:0001511Intrauterine growth retardation
HP:0001999Abnormal facial shape
HP:0002545Patchy demyelination of subcortical white matter
HP:0007346Subcortical white matter calcifications
HP:0012758Neurodevelopmental delay
Частый (30–79%)7
HP:0000276Long face
HP:0000303Mandibular prognathia
HP:0001251Ataxia
HP:0001288Gait disturbance
HP:0002172Postural instability
HP:0005328Progeroid facial appearance
HP:0001288Gait disturbance
Периодический (5–29%)26
HP:0000331Short chin
HP:0000365Hearing impairment
HP:0000400Macrotia
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000509Conjunctivitis
HP:0000519Developmental cataract
HP:0000528Anophthalmia
HP:0000554Uveitis
HP:0000613Photophobia
HP:0000639Nystagmus
HP:0000674Anodontia
HP:0000680Delayed eruption of primary teeth
HP:0001034Hypermelanotic macule
HP:0001371Flexion contracture
HP:0002061Lower limb spasticity
HP:0002240Hepatomegaly
HP:0002509Limb hypertonia
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0006297Enamel hypoplasia
HP:0006313Widely spaced primary teeth
HP:0006334Hypoplasia of the primary teeth
HP:0008872Feeding difficulties in infancy
HP:0008936Axial hypotonia
HP:0100699Scarring
Очень редкий (1–4%)2
HP:0000026Male hypogonadism
HP:0000028Cryptorchidism
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)