Prolidase deficiency
ORPHA:742DiseaseAutosomal recessiveAdolescent, Adult, Childhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)39
Очень частый (80–99%)19
HP:0000365Hearing impairment
HP:0000370Abnormality of the middle ear
HP:0000670Carious teeth
HP:0000958Dry skin
HP:0000962Hyperkeratosis
HP:0000963Thin skin
HP:0000982Palmoplantar keratoderma
HP:0000989Pruritus
HP:0000992Cutaneous photosensitivity
HP:0001999Abnormal facial shape
HP:0002205Recurrent respiratory infections
HP:0002715Abnormality of the immune system
HP:0003272Abnormality of the hip bone
HP:0005280Depressed nasal bridge
HP:0007473Crusting erythematous dermatitis
HP:0008065Aplasia/Hypoplasia of the skin
HP:0010783Erythema
HP:0200034Papule
HP:0200042Skin ulcer
Частый (30–79%)13
HP:0000294Low anterior hairline
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000457Depressed nasal ridge
HP:0000505Visual impairment
HP:0001007Hirsutism
HP:0001166Arachnodactyly
HP:0001231Abnormal fingernail morphology
HP:0002211White forelock
HP:0002230Generalized hirsutism
HP:0002857Genu valgum
HP:0007598Bilateral single transverse palmar creases
HP:0007703Abnormality of retinal pigmentation
Периодический (5–29%)7
HP:0000520Proptosis
HP:0001249Intellectual disability
HP:0001744Splenomegaly
HP:0002240Hepatomegaly
HP:0004349Reduced bone mineral density
HP:0010669Hypoplasia of the zygomatic bone
HP:0012786Recurrent cystitis
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 90 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | <1 / 1 000 000 | 0.08 | Canada | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)