Cockayne syndrome type 3
ORPHA:90324Clinical subtypeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены2
| 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 |
Фенотипы (HPO)74
Очень частый (80–99%)5
HP:0002135Basal ganglia calcification
HP:0002446Astrocytosis
HP:0002461Dense calcifications in the cerebellar dentate nucleus
HP:0007346Subcortical white matter calcifications
HP:0012447Abnormal myelination
Частый (30–79%)19
HP:0003477Peripheral axonal neuropathy
HP:0004302Functional motor deficit
HP:0004934Vascular calcification
HP:0005181Premature coronary artery atherosclerosis
HP:0007108Demyelinating peripheral neuropathy
HP:0008615Adult onset sensorineural hearing impairment
HP:0009830Peripheral neuropathy
HP:0012444Brain atrophy
HP:0012762Cerebral white matter atrophy
HP:0000011Neurogenic bladder
HP:0000992Cutaneous photosensitivity
HP:0001256Intellectual disability, mild
HP:0001284Areflexia
HP:0001347Hyperreflexia
HP:0002080Intention tremor
HP:0002317Unsteady gait
HP:0003134Abnormality of peripheral nerve conduction
HP:0003202Skeletal muscle atrophy
HP:0001288Gait disturbance
Периодический (5–29%)32
HP:0000016Urinary retention
HP:0000072Hydroureter
HP:0000083Renal insufficiency
HP:0000126Hydronephrosis
HP:0000253Progressive microcephaly
HP:0000331Short chin
HP:0000400Macrotia
HP:0000405Conductive hearing impairment
HP:0000460Narrow nose
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000518Cataract
HP:0000540Hypermetropia
HP:0000613Photophobia
HP:0000639Nystagmus
HP:0000670Carious teeth
HP:0001250Seizure
HP:0001530Mild postnatal growth retardation
HP:0001999Abnormal facial shape
HP:0002020Gastroesophageal reflux
HP:0002216Premature graying of hair
HP:0002240Hepatomegaly
HP:0002344Progressive neurologic deterioration
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0006297Enamel hypoplasia
HP:0011359Dry hair
HP:0011968Feeding difficulties
HP:0012758Neurodevelopmental delay
HP:0032263Increased blood pressure
HP:0100543Cognitive impairment
Очень редкий (1–4%)18
HP:0000089Renal hypoplasia
HP:0000122Unilateral renal agenesis
HP:0000482Microcornea
HP:0000543Optic disc pallor
HP:0000546Retinal degeneration
HP:0000556Retinal dystrophy
HP:0000568Microphthalmia
HP:0000573Retinal hemorrhage
HP:0001097Keratoconjunctivitis sicca
HP:0001105Retinal atrophy
HP:0001297Stroke
HP:0001371Flexion contracture
HP:0001638Cardiomyopathy
HP:0001744Splenomegaly
HP:0002616Aortic root aneurysm
HP:0011527Lentiglobus
HP:0012804Corneal ulceration
HP:0100309Subdural hemorrhage
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)