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Reynolds syndrome

ORPHA:779DiseaseNot applicableAdult

Ассоциированные гены (1)

LBR
lamin B receptor
Candidate gene tested in
OMIM: 600024

Фенотипы (24)

Очень частый (80–99%)7
HP:0000989Pruritus
HP:0002020Gastroesophageal reflux
HP:0002240Hepatomegaly
HP:0003326Myalgia
HP:0004295Abnormality of the gastric mucosa
HP:0011354Generalized abnormality of skin
HP:0012378Fatigue
Частый (30–79%)11
HP:0000217Xerostomia
HP:0000988Skin rash
HP:0001097Keratoconjunctivitis sicca
HP:0001369Arthritis
HP:0001945Fever
HP:0002015Dysphagia
HP:0007400Irregular hyperpigmentation
HP:0011838Sclerodactyly
HP:0100579Mucosal telangiectasiae
HP:0100585Telangiectasia of the skin
HP:0200042Skin ulcer
Периодический (5–29%)6
HP:0000952Jaundice
HP:0001394Cirrhosis
HP:0001541Ascites
HP:0002093Respiratory insufficiency
HP:0002383Infectious encephalitis
HP:0100725Lichenification

Эпидемиология (1)

Point prevalence
Unknown
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы