Cockayne syndrome type 1
ORPHA:90321Clinical subtypeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ERCC4 | ERCC excision repair 4, endonuclease catalytic subunit | Disease-causing germline mutation(s) in | gene with protein product | 133520 |
| 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 |
Фенотипы (HPO)58
Очень частый (80–99%)12
HP:0000365Hearing impairment
HP:0000490Deeply set eye
HP:0000580Pigmentary retinopathy
HP:0000992Cutaneous photosensitivity
HP:0001249Intellectual disability
HP:0001508Failure to thrive
HP:0001999Abnormal facial shape
HP:0002135Basal ganglia calcification
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0004463Absent brainstem auditory responses
HP:0008366Foot joint contracture
HP:0008897Postnatal growth retardation
Частый (30–79%)22
HP:0000093Proteinuria
HP:0000164Abnormality of the dentition
HP:0000276Long face
HP:0000303Mandibular prognathia
HP:0000505Visual impairment
HP:0000518Cataract
HP:0000633Decreased lacrimation
HP:0000648Optic atrophy
HP:0000822Hypertension
HP:0000966Hypohidrosis
HP:0001251Ataxia
HP:0001288Gait disturbance
HP:0001337Tremor
HP:0001347Hyperreflexia
HP:0002014Diarrhea
HP:0002172Postural instability
HP:0002650Scoliosis
HP:0003134Abnormality of peripheral nerve conduction
HP:0003138Increased blood urea nitrogen
HP:0004370Abnormality of temperature regulation
HP:0005328Progeroid facial appearance
HP:0001288Gait disturbance
Периодический (5–29%)22
HP:0000083Renal insufficiency
HP:0000331Short chin
HP:0000400Macrotia
HP:0000486Strabismus
HP:0000509Conjunctivitis
HP:0000528Anophthalmia
HP:0000554Uveitis
HP:0000613Photophobia
HP:0000639Nystagmus
HP:0000674Anodontia
HP:0000680Delayed eruption of primary teeth
HP:0001034Hypermelanotic macule
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001903Anemia
HP:0002061Lower limb spasticity
HP:0002240Hepatomegaly
HP:0002360Sleep abnormality
HP:0006297Enamel hypoplasia
HP:0006313Widely spaced primary teeth
HP:0006334Hypoplasia of the primary teeth
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)