Naegeli-Franceschetti-Jadassohn syndrome
ORPHA:69087DiseaseAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)30
Очень частый (80–99%)2
HP:0007427Reticulated skin pigmentation
HP:0007455Adermatoglyphia
Частый (30–79%)10
HP:0000164Abnormality of the dentition
HP:0000958Dry skin
HP:0000966Hypohidrosis
HP:0001808Fragile nails
HP:0002046Heat intolerance
HP:0006482Abnormal dental morphology
HP:0007500Decreased number of sweat glands
HP:0008392Subungual hyperkeratosis
HP:0008404Nail dystrophy
HP:0031282Malalignment of the great toenail
Периодический (5–29%)18
HP:0000670Carious teeth
HP:0000970Anhidrosis
HP:0000972Palmoplantar hyperkeratosis
HP:0001010Hypopigmentation of the skin
HP:0001056Milia
HP:0001220Interphalangeal joint contracture of finger
HP:0001806Onycholysis
HP:0001810Dystrophic toenail
HP:0005586Hyperpigmentation in sun-exposed areas
HP:0006253Swelling of proximal interphalangeal joints
HP:0006286Yellow-brown discoloration of the teeth
HP:0006297Enamel hypoplasia
HP:0006480Premature loss of teeth
HP:0007530Punctate palmoplantar hyperkeratosis
HP:0007599Generalized reticulate brown pigmentation
HP:0011069Supernumerary tooth
HP:0012785Flexion contracture of finger
HP:0031045Acral blistering
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | 0.035 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)