Stiff skin syndrome
ORPHA:2833DiseaseAutosomal dominantChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)24
Очень частый (80–99%)3
HP:0001072Thickened skin
HP:0001376Limitation of joint mobility
HP:0100679Lack of skin elasticity
Частый (30–79%)2
HP:0000953Hyperpigmentation of the skin
HP:0000998Hypertrichosis
Периодический (5–29%)18
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000501Glaucoma
HP:0000541Retinal detachment
HP:0000787Nephrolithiasis
HP:0000822Hypertension
HP:0001324Muscle weakness
HP:0001482Subcutaneous nodule
HP:0003011Abnormality of the musculature
HP:0003119Abnormal circulating lipid concentration
HP:0004322Short stature
HP:0004325Decreased body weight
HP:0005978Type II diabetes mellitus
HP:0007328Impaired pain sensation
HP:0008065Aplasia/Hypoplasia of the skin
HP:0009830Peripheral neuropathy
HP:0011800Midface retrusion
HP:0100578Lipoatrophy
Очень редкий (1–4%)1
HP:0030057Autoimmune antibody positivity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 54 | 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)