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GTR Home > Conditions/Phenotypes > Familial visceral amyloidosis, Ostertag type

Familial visceral amyloidosis, Ostertag type

Synonyms
AMYLOIDOSIS, HEREDITARY SYSTEMIC 2; APOA1-Related Familial Visceral Amyloidosis; Amyloidosis 8; Amyloidosis familial renal; Amyloidosis systemic nonneuropathic; Amyloidosis, hepatic and systemic; FGA-Related Familial Visceral Amyloidosis; Familial visceral amyloidosis; German type amyloidosis; LYZ-Related Familial Visceral Amyloidosis; Ostertag type amyloidosis
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Systemic amyloidosis is a rare protein misfolding and deposition disorder caused by extracellular deposition of amyloid and leading to progressive organ failure. Amyloid is composed of highly organized proteinaceous, insoluble, and degradation-resistant fibrils. Hereditary systemic amyloidosis-2 (AMYLD2), resulting from mutation in the FGA gene, is the most common form of hereditary renal amyloidosis. The kidneys are the major affected organ, presenting with proteinuria. Other less frequently involved organs include liver, heart, autonomic nerve, and, rarely, peripheral nerve. A strong family history of coronary or vascular disease is also frequently seen (summary by Muchtar et al., 2021). The various forms of hereditary systemic amyloidosis that do not have peripheral neuropathy as part of the clinical syndrome have been referred to as 'Ostertag type' in reference to a German family described by Benno Ostertag (1932) in which several members died with renal amyloidosis. Since the form of hereditary amyloidosis caused by mutation in the FGA gene is the most common in Europe and has a clinical presentation with hypertension and proteinuria, Benson (2005) considered it a very good candidate for being the original amyloidosis described by Ostertag. For a discussion of genetic heterogeneity of hereditary systemic amyloidosis, see AMYLD1 (105210). [from OMIM]

Available tests

52 tests are in the database for this condition.

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Clinical tests (52 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMYLD3, HPALP2, apo(a), APOA1
    Summary: apolipoprotein A1

  • Also known as: AMYLD6, IMD43, MHC1D4, B2M
    Summary: beta-2-microglobulin

  • Also known as: AMYLD2, Fib2, FGA
    Summary: fibrinogen alpha chain

  • Also known as: AMYLD5, LYZF1, LZM, LYZ
    Summary: lysozyme

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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