Hypotrichosis simplex
ORPHA:55654DiseaseAutosomal dominant, Autosomal recessiveChildhood
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| LSS | lanosterol synthase | Disease-causing germline mutation(s) in | gene with protein product | 600909 |
| LIPH | lipase H | Disease-causing germline mutation(s) in | gene with protein product | 607365 |
| APCDD1 | APC down-regulated 1 | Disease-causing germline mutation(s) in | gene with protein product | 607479 |
| RPL21 | ribosomal protein L21 | Disease-causing germline mutation(s) in | gene with protein product | 603636 |
| SNRPE | small nuclear ribonucleoprotein polypeptide E | Disease-causing germline mutation(s) in | gene with protein product | 128260 |
| LPAR6 | lysophosphatidic acid receptor 6 | Disease-causing germline mutation(s) in | gene with protein product | 609239 |
| DSG4 | desmoglein 4 | Disease-causing germline mutation(s) in | gene with protein product | 607892 |
Фенотипы (HPO)6
Очень частый (80–99%)5
HP:0000653Sparse eyelashes
HP:0001596Alopecia
HP:0002209Sparse scalp hair
HP:0002231Sparse body hair
HP:0045075Sparse eyebrow
Частый (30–79%)1
HP:0008070Sparse hair
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 38 | 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)