Erythrokeratodermia variabilis
ORPHA:317DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| GJA1 | gap junction protein alpha 1 | Disease-causing germline mutation(s) in | gene with protein product | 121014 |
| GJB4 | gap junction protein beta 4 | Disease-causing germline mutation(s) in | gene with protein product | 605425 |
| GJB3 | gap junction protein beta 3 | Disease-causing germline mutation(s) in | gene with protein product | 603324 |
| KDSR | 3-ketodihydrosphingosine reductase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 136440 |
Фенотипы (HPO)29
Очень частый (80–99%)10
HP:0000252Microcephaly
HP:0000962Hyperkeratosis
HP:0000988Skin rash
HP:0000992Cutaneous photosensitivity
HP:0001034Hypermelanotic macule
HP:0001824Weight loss
HP:0004322Short stature
HP:0008066Abnormal blistering of the skin
HP:0010783Erythema
HP:0012733Macule
Частый (30–79%)8
HP:0000501Glaucoma
HP:0000518Cataract
HP:0000819Diabetes mellitus
HP:0000958Dry skin
HP:0001595Abnormality of the hair
HP:0001596Alopecia
HP:0005588Patchy palmoplantar keratoderma
HP:0007400Irregular hyperpigmentation
Периодический (5–29%)11
HP:0000035Abnormal testis morphology
HP:0000365Hearing impairment
HP:0000411Protruding ear
HP:0001156Brachydactyly
HP:0001182Tapered finger
HP:0001249Intellectual disability
HP:0001597Abnormality of the nail
HP:0002230Generalized hirsutism
HP:0007957Corneal opacity
HP:0008069Neoplasm of the skin
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 200 | 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)