Mutilating palmoplantar keratoderma with periorificial keratotic plaques
ORPHA:659DiseaseAutosomal dominant, Not applicable, X-linked recessiveChildhood, Infancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PERP | p53 apoptosis effector related to PMP22 | Disease-causing germline mutation(s) in | gene with protein product | 609301 |
| MBTPS2 | membrane bound transcription factor peptidase, site 2 | Disease-causing germline mutation(s) in | gene with protein product | 300294 |
| TRPV3 | transient receptor potential cation channel subfamily V member 3 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 607066 |
Фенотипы (HPO)23
Очень частый (80–99%)9
HP:0000970Anhidrosis
HP:0000982Palmoplantar keratoderma
HP:0001072Thickened skin
HP:0001231Abnormal fingernail morphology
HP:0007410Palmoplantar hyperhidrosis
HP:0008070Sparse hair
HP:0010783Erythema
HP:0031013Ankylosis
HP:0031057Skin fissure
Частый (30–79%)5
HP:0000164Abnormality of the dentition
HP:0000407Sensorineural hearing impairment
HP:0000668Hypodontia
HP:0000670Carious teeth
HP:0200042Skin ulcer
Периодический (5–29%)9
HP:0001596Alopecia
HP:0002797Osteolysis
HP:0002861Melanoma
HP:0008069Neoplasm of the skin
HP:0011830Abnormal oral mucosa morphology
HP:0100526Neoplasm of the lung
HP:0000157Abnormality of the tongue
HP:0000168Abnormality of the gingiva
HP:0001250Seizure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 73 | 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)