Keratosis follicularis spinulosa decalvans
ORPHA:2340DiseaseAutosomal dominant, Autosomal recessive, X-linked recessiveChildhood
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MBTPS2 | membrane bound transcription factor peptidase, site 2 | Disease-causing germline mutation(s) in | gene with protein product | 300294 |
| SAT1 | spermidine/spermine N1-acetyltransferase 1 | Candidate gene tested in | gene with protein product | 313020 |
| LRP1 | LDL receptor related protein 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 107770 |
Фенотипы (HPO)17
Частый (30–79%)10
HP:0000653Sparse eyelashes
HP:0000989Pruritus
HP:0001041Facial erythema
HP:0002287Progressive alopecia
HP:0004552Scarring alopecia of scalp
HP:0007502Follicular hyperkeratosis
HP:0025084Folliculitis
HP:0032152Keratosis pilaris
HP:0045059Hyperkeratotic papule
HP:0045075Sparse eyebrow
Периодический (5–29%)7
HP:0000498Blepharitis
HP:0000509Conjunctivitis
HP:0000613Photophobia
HP:0000982Palmoplantar keratoderma
HP:0001047Atopic dermatitis
HP:0001131Corneal dystrophy
HP:0008404Nail dystrophy
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)