Lethal acantholytic erosive disorder
ORPHA:158687DiseaseAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)27
Частый (30–79%)13
HP:0000561Absent eyelashes
HP:0000695Natal tooth
HP:0001030Fragile skin
HP:0001802Absent toenail
HP:0001817Absent fingernail
HP:0002223Absent eyebrow
HP:0002298Absent hair
HP:0002878Respiratory failure
HP:0005597Congenital alopecia totalis
HP:0031274Hypovolemic shock
HP:0031538Abnormal dermoepidermal junction morphology
HP:0032449Abnormal dermoepidermal hemidesmosome morphology
HP:0100792Acantholysis
Периодический (5–29%)14
HP:0000175Cleft palate
HP:0000377Abnormal pinna morphology
HP:0000924Abnormality of the skeletal system
HP:00012332-3 finger syndactyly
HP:0001511Intrauterine growth retardation
HP:0001562Oligohydramnios
HP:0001638Cardiomyopathy
HP:0001640Cardiomegaly
HP:0001836Camptodactyly of toe
HP:0004209Clinodactyly of the 5th finger
HP:00060973-4 finger syndactyly
HP:0006670Impaired myocardial contractility
HP:00107054-5 finger syndactyly
HP:0011039Abnormality of the helix
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)