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AA amyloidosis

ORPHA:85445DiseaseNot applicableAdolescent, Adult, Childhood

Ассоциированные гены (1)

SAA1
serum amyloid A1
Major susceptibility factor in
OMIM: 104750

Фенотипы (32)

Очень частый (80–99%)5
HP:0000093Proteinuria
HP:0000112Nephropathy
HP:0001917Renal amyloidosis
HP:0002615Hypotension
HP:0011034Amyloidosis
Частый (30–79%)13
HP:0000100Nephrotic syndrome
HP:0000105Enlarged kidney
HP:0001396Cholestasis
HP:0002013Vomiting
HP:0002018Nausea
HP:0002024Malabsorption
HP:0002027Abdominal pain
HP:0002028Chronic diarrhea
HP:0002240Hepatomegaly
HP:0004395Malnutrition
HP:0004936Venous thrombosis
HP:0011830Abnormal oral mucosa morphology
HP:0012622Chronic kidney disease
Периодический (5–29%)10
HP:0000083Renal insufficiency
HP:0000853Goiter
HP:0001278Orthostatic hypotension
HP:0001744Splenomegaly
HP:0001919Acute kidney injury
HP:0005162Abnormal left ventricular function
HP:0009830Peripheral neuropathy
HP:0012185Constrictive median neuropathy
HP:0025077Decreased QRS voltage
HP:0030164Jaw claudication
Очень редкий (1–4%)4
HP:0000158Macroglossia
HP:0000821Hypothyroidism
HP:0000846Adrenal insufficiency
HP:0030843Cardiac amyloidosis

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