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Familial visceral amyloidosis, Ostertag type

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Description

A group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited.

ORDO

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

105

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Genes

External Links

  • OMIM

    105200

  • Orphanet

    85450

  • HPO
  • Medgen

    C0268389

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