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Start free with EleplanAApoAI amyloidosis
ORPHA:93560Clinical subtype
Also called Apolipoprotein A-I amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-I variant · Familial renal amyloidosis due to apolipoprotein A-I variant · Hereditary amyloid nephropathy due to apolipoprotein A-I variant · Hereditary renal amyloidosis due to apolipoprotein A-I variant
What it is
A rare, hereditary amyloidosis with primary renal involvement characterized by renal interstitial and medullary deposition of amyloid, low plasma levels of ApoA-1 and slow disease progression. Main clinical signs and symptoms are hypertension, proteinuria, hematuria and edema due to chronic renal insufficiency leading to end stage renal disease. Hepatosplenomegaly, progressive cardiomyopathy and involvement of skin, testes and adrenals (hypergonadotropic hypogonadism) have also been reported.
Key facts
- Inheritance
- Autosomal dominant
- Classified as
- Clinical subtype
Recorded for the broader condition
- Age of onset
- All agesHereditary amyloidosis with primary renal involvement
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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