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Whipple disease

ORPHA:3452DiseaseNot applicableNo data available

Ассоциированные гены (1)

IRF4
interferon regulatory factor 4
Major susceptibility factor in
OMIM: 601900

Фенотипы (47)

Очень частый (80–99%)13
HP:0000716Depression
HP:0001336Myoclonus
HP:0001369Arthritis
HP:0001945Fever
HP:0002014Diarrhea
HP:0002024Malabsorption
HP:0002027Abdominal pain
HP:0002039Anorexia
HP:0002376Developmental regression
HP:0002829Arthralgia
HP:0004326Cachexia
HP:0012378Fatigue
HP:0100721Mediastinal lymphadenopathy
Частый (30–79%)7
HP:0000554Uveitis
HP:0001744Splenomegaly
HP:0002102Pleuritis
HP:0002240Hepatomegaly
HP:0002360Sleep abnormality
HP:0002615Hypotension
HP:0003326Myalgia
Периодический (5–29%)27
HP:0000238Hydrocephalus
HP:0000520Proptosis
HP:0000821Hypothyroidism
HP:0000855Insulin resistance
HP:0001250Seizure
HP:0001251Ataxia
HP:0001324Muscle weakness
HP:0001658Myocardial infarction
HP:0001701Pericarditis
HP:0001903Anemia
HP:0001959Polydipsia
HP:0002093Respiratory insufficiency
HP:0002239Gastrointestinal hemorrhage
HP:0002383Infectious encephalitis
HP:0002516Increased intracranial pressure
HP:0002902Hyponatremia
HP:0006824Cranial nerve paralysis
HP:0007256Abnormal pyramidal sign
HP:0007440Generalized hyperpigmentation
HP:0009830Peripheral neuropathy
HP:0010741Pedal edema
HP:0012735Cough
HP:0012819Myocarditis
HP:0100614Myositis
HP:0100639Erectile dysfunction
HP:0100749Chest pain
HP:0100829Galactorrhea

Эпидемиология (4)

Annual incidence
<1 / 1 000 000
Europe
Point prevalence
Unknown
Worldwide
Point prevalence
1-9 / 1 000 000
Italy
Point prevalence
1-9 / 1 000 000
United States

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы