Aplasia cutis congenita
ORPHA:1114Malformation syndromeAutosomal dominant, Autosomal recessive, Not applicableAntenatal, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PLEC | plectin | Disease-causing germline mutation(s) in | gene with protein product | 601282 |
| ITGB4 | integrin subunit beta 4 | Disease-causing germline mutation(s) in | gene with protein product | 147557 |
| BMS1 | BMS1 ribosome biogenesis factor | Disease-causing germline mutation(s) in | gene with protein product | 611448 |
| DLL4 | delta like canonical Notch ligand 4 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 605185 |
| UBA2 | ubiquitin like modifier activating enzyme 2 | Disease-causing germline mutation(s) in | gene with protein product | 613295 |
Фенотипы (HPO)13
Очень частый (80–99%)5
HP:0001057Aplasia cutis congenita
HP:0001362Skull defect
HP:0004471Aplasia cutis congenita over the scalp vertex
HP:0007383Congenital localized absence of skin
HP:0010301Spinal dysraphism
Частый (30–79%)1
HP:0200042Skin ulcer
Периодический (5–29%)7
HP:0001770Toe syndactyly
HP:0003010Prolonged bleeding time
HP:0004348Abnormality of bone mineral density
HP:0006101Finger syndactyly
HP:0010628Facial palsy
HP:0010783Erythema
HP:5200061Tactile hypersensitivity
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-5 / 10 000 | 10 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 7.69 | Denmark | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)