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AApoAII amyloidosis
Disease definition
A rare hereditary amyloidosis with primary renal involvement characterized by variable onset of renal insufficiency with edema, hypertension, proteinuria, and azotemia, eventually leading to end-stage renal disease. Amyloid cardiomyopathy and histopathological evidence of amyloid deposition in other organs, such as the spleen, liver, adrenal glands, and pancreas, among others, have also been described.
ORPHA:238269
Classification level: Subtype of disorder- Synonym(s):
- Apolipoprotein A-II amyloidosis
- Familial amyloid nephropathy due to apolipoprotein A-II variant
- Familial renal amyloidosis due to apolipoprotein A-II variant
- Hereditary amyloid nephropathy due to apolipoprotein A-II variant
- Hereditary renal amyloidosis due to apolipoprotein A-II variant
- Prevalence: -
- Inheritance: Autosomal dominant
- Age of onset: -
- ICD-10: E85.0
- OMIM: -
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
A summary on this disease is available in Español (2020) Français (2020) Nederlands (2020)
Detailed information
General public
- Article for general public
- Français (2014) - SNFMI
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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