Xeroderma pigmentosum
ORPHA:910DiseaseAutosomal recessiveAll ages
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| XPA | XPA, DNA damage recognition and repair factor | Disease-causing germline mutation(s) in | gene with protein product | 611153 |
| ERCC3 | ERCC excision repair 3, TFIIH core complex helicase subunit | Disease-causing germline mutation(s) in | gene with protein product | 133510 |
| XPC | XPC complex subunit, DNA damage recognition and repair factor | Disease-causing germline mutation(s) in | gene with protein product | 613208 |
| DDB2 | damage specific DNA binding protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 600811 |
| ERCC4 | ERCC excision repair 4, endonuclease catalytic subunit | Disease-causing germline mutation(s) in | gene with protein product | 133520 |
| ERCC5 | ERCC excision repair 5, endonuclease | Disease-causing germline mutation(s) in | gene with protein product | 133530 |
| ERCC2 | ERCC excision repair 2, TFIIH core complex helicase subunit | Disease-causing germline mutation(s) in | gene with protein product | 126340 |
Фенотипы (HPO)59
Очень частый (80–99%)20
HP:0000135Hypogonadism
HP:0000164Abnormality of the dentition
HP:0000524Conjunctival telangiectasia
HP:0000648Optic atrophy
HP:0000958Dry skin
HP:0000963Thin skin
HP:0000992Cutaneous photosensitivity
HP:0001009Telangiectasia
HP:0001029Poikiloderma
HP:0001072Thickened skin
HP:0001480Freckling
HP:0001508Failure to thrive
HP:0001945Fever
HP:0002353EEG abnormality
HP:0002376Developmental regression
HP:0002829Arthralgia
HP:0006887Intellectual disability, progressive
HP:0012378Fatigue
HP:0100543Cognitive impairment
HP:0100585Telangiectasia of the skin
Частый (30–79%)13
HP:0000028Cryptorchidism
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000491Keratitis
HP:0000518Cataract
HP:0000962Hyperkeratosis
HP:0001034Hypermelanotic macule
HP:0001053Hypopigmented skin patches
HP:0002861Melanoma
HP:0004334Dermal atrophy
HP:0010783Erythema
HP:0012733Macule
HP:0012740Papilloma
Периодический (5–29%)26
HP:0000252Microcephaly
HP:0000365Hearing impairment
HP:0000498Blepharitis
HP:0000613Photophobia
HP:0000621Entropion
HP:0000656Ectropion
HP:0000995Melanocytic nevus
HP:0001059Pterygium
HP:0001250Seizure
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001315Reduced tendon reflexes
HP:0001596Alopecia
HP:0002071Abnormality of extrapyramidal motor function
HP:0002120Cerebral cortical atrophy
HP:0002664Neoplasm
HP:0002750Delayed skeletal maturation
HP:0003355Aminoaciduria
HP:0004322Short stature
HP:0004493Craniofacial hyperostosis
HP:0007759Opacification of the corneal stroma
HP:0008734Decreased testicular size
HP:0009755Ankyloblepharon
HP:0009830Peripheral neuropathy
HP:0010649Flat nasal alae
HP:0100012Neoplasm of the eye
Эпидемиология9
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | 4.5 | Japan | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.23 | Europe | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.19 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.41 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.16 | Italy | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.34 | France | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.18 | Germany | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.75 | Libyan Arab Jamahiriya | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)