Autosomal dominant hypohidrotic ectodermal dysplasia
ORPHA:1810Etiological subtypeAutosomal dominantInfancy, Neonatal
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| EDAR | ectodysplasin A receptor | Disease-causing germline mutation(s) in | gene with protein product | 604095 |
| EDARADD | EDAR associated via death domain | Disease-causing germline mutation(s) in | gene with protein product | 606603 |
| TRAF6 | TNF receptor associated factor 6 | Disease-causing germline mutation(s) in | gene with protein product | 602355 |
| LRP6 | LDL receptor related protein 6 | Disease-causing germline mutation(s) in | gene with protein product | 603507 |
| KDF1 | keratinocyte differentiation factor 1 | Disease-causing germline mutation(s) in | gene with protein product | 616758 |
Фенотипы (HPO)15
Очень частый (80–99%)8
HP:0000164Abnormality of the dentition
HP:0000668Hypodontia
HP:0000963Thin skin
HP:0000966Hypohidrosis
HP:0002231Sparse body hair
HP:0006323Premature loss of primary teeth
HP:0006482Abnormal dental morphology
HP:0008070Sparse hair
Частый (30–79%)1
HP:0001231Abnormal fingernail morphology
Периодический (5–29%)6
HP:0000457Depressed nasal ridge
HP:0000964Eczematoid dermatitis
HP:0001000Abnormality of skin pigmentation
HP:0002047Malignant hyperthermia
HP:0011220Prominent forehead
HP:0012471Thick vermilion border
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | 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)