Pachyonychia congenita
ORPHA:2309DiseaseAutosomal dominant, Autosomal recessiveAll ages
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| KRT16 | keratin 16 | Disease-causing germline mutation(s) in | gene with protein product | 148067 |
| KRT17 | keratin 17 | Disease-causing germline mutation(s) in | gene with protein product | 148069 |
| KRT6A | keratin 6A | Disease-causing germline mutation(s) in | gene with protein product | 148041 |
| KRT6B | keratin 6B | Disease-causing germline mutation(s) in | gene with protein product | 148042 |
Фенотипы (HPO)27
Очень частый (80–99%)6
HP:0000982Palmoplantar keratoderma
HP:0007446Palmoplantar blistering
HP:0008401Onychogryposis of toenails
HP:0008404Nail dystrophy
HP:0012514Lower limb pain
HP:0030268Hyperplastic callus formation
Частый (30–79%)10
HP:0002745Oral leukoplakia
HP:0007410Palmoplantar hyperhidrosis
HP:0007490Linear arrays of macular hyperkeratoses in flexural areas
HP:0007502Follicular hyperkeratosis
HP:0010765Palmar hyperkeratosis
HP:0012035Steatocystoma multiplex
HP:0025245Cutaneous cyst
HP:0040036Onychogryposis of fingernail
HP:0100798Fingernail dysplasia
HP:0200040Epidermoid cyst
Периодический (5–29%)7
HP:0000695Natal tooth
HP:0001508Failure to thrive
HP:0001818Paronychia
HP:0006288Advanced eruption of teeth
HP:0011968Feeding difficulties
HP:0025248Eruptive vellus hair cyst
HP:0030766Ear pain
Очень редкий (1–4%)4
HP:0001596Alopecia
HP:0001609Hoarse voice
HP:0002098Respiratory distress
HP:0030318Angular cheilitis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 1000 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | 0.09 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)