Xeroderma pigmentosum-Cockayne syndrome complex
ORPHA:220295DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ERCC5 | ERCC excision repair 5, endonuclease | Disease-causing germline mutation(s) in | gene with protein product | 133530 |
| ERCC4 | ERCC excision repair 4, endonuclease catalytic subunit | Disease-causing germline mutation(s) in | gene with protein product | 133520 |
| ERCC2 | ERCC excision repair 2, TFIIH core complex helicase subunit | Disease-causing germline mutation(s) in | gene with protein product | 126340 |
| ERCC3 | ERCC excision repair 3, TFIIH core complex helicase subunit | Disease-causing germline mutation(s) in | gene with protein product | 133510 |
Фенотипы (HPO)29
Очень частый (80–99%)21
HP:0000238Hydrocephalus
HP:0000252Microcephaly
HP:0000365Hearing impairment
HP:0000488Retinopathy
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000958Dry skin
HP:0000988Skin rash
HP:0000992Cutaneous photosensitivity
HP:0001025Urticaria
HP:0001029Poikiloderma
HP:0001249Intellectual disability
HP:0001251Ataxia
HP:0001257Spasticity
HP:0002634Arteriosclerosis
HP:0004322Short stature
HP:0004326Cachexia
HP:0004334Dermal atrophy
HP:0004337Abnormality of amino acid metabolism
HP:0007495Prematurely aged appearance
HP:0007587Numerous pigmented freckles
Частый (30–79%)8
HP:0000651Diplopia
HP:0001260Dysarthria
HP:0001263Global developmental delay
HP:0001289Confusion
HP:0002671Basal cell carcinoma
HP:0002861Melanoma
HP:0006739Squamous cell carcinoma of the skin
HP:0007108Demyelinating peripheral neuropathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 30 | 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)