AApoAII amyloidosis

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AApoAII amyloidosis

ORPHA:238269Clinical subtype

Also called 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

What it is

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.

Key facts

Inheritance
Autosomal dominant
Classified as
Clinical subtype

Recorded for the broader condition

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

APOA2Disease-causing germline mutation(s)

ICD-10 codes

E85.0filed under a broader ICD-10 category — shared with 14 other rare diseases

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

MONDO 0016533UMLS C5679845

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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