Intermediate generalized junctional epidermolysis bullosa
ORPHA:79402DiseaseAutosomal recessiveNeonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| COL17A1 | collagen type XVII alpha 1 chain | Disease-causing germline mutation(s) in | gene with protein product | 113811 |
| ITGB4 | integrin subunit beta 4 | Disease-causing germline mutation(s) in | gene with protein product | 147557 |
| LAMA3 | laminin subunit alpha 3 | Disease-causing germline mutation(s) in | gene with protein product | 600805 |
| LAMB3 | laminin subunit beta 3 | Disease-causing germline mutation(s) in | gene with protein product | 150310 |
| LAMC2 | laminin subunit gamma 2 | Disease-causing germline mutation(s) in | gene with protein product | 150292 |
Фенотипы (HPO)14
Очень частый (80–99%)8
HP:0001000Abnormality of skin pigmentation
HP:0001056Milia
HP:0001057Aplasia cutis congenita
HP:0001075Atrophic scars
HP:0002231Sparse body hair
HP:0004552Scarring alopecia of scalp
HP:0008066Abnormal blistering of the skin
HP:0200097Oral mucosal blisters
Частый (30–79%)3
HP:0001798Anonychia
HP:0001903Anemia
HP:0008404Nail dystrophy
Периодический (5–29%)3
HP:0000982Palmoplantar keratoderma
HP:0001510Growth delay
HP:0006297Enamel hypoplasia
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)