← Назад

Hypotrichosis simplex of the scalp

ORPHA:90368DiseaseAutosomal dominantChildhood

Ассоциированные гены (2)

KRT74
keratin 74
Disease-causing germline mutation(s) in
OMIM: 608248
CDSN
corneodesmosin
Disease-causing germline mutation(s) in
OMIM: 602593

Фенотипы (21)

Очень частый (80–99%)2
HP:0002213Fine hair
HP:0100038Slow-growing scalp hair
Частый (30–79%)5
HP:0000962Hyperkeratosis
HP:0001036Parakeratosis
HP:0002209Sparse scalp hair
HP:0002293Alopecia of scalp
HP:0025092Epidermal acanthosis
Периодический (5–29%)5
HP:0000989Pruritus
HP:0001047Atopic dermatitis
HP:0003193Allergic rhinitis
HP:0003212Increased circulating IgE level
HP:0040189Scaling skin
Исключён (0%)9
HP:0000164Abnormality of the dentition
HP:0000499Abnormal eyelash morphology
HP:0000534Abnormal eyebrow morphology
HP:0001597Abnormality of the nail
HP:0002550Absent facial hair
HP:0004528Generalized hypotrichosis
HP:0007550Hypohidrosis or hyperhidrosis
HP:0100133Abnormality of the pubic hair
HP:0100134Abnormality of the axillary hair

Эпидемиология (1)

Point prevalence
Unknown
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы