Familial visceral amyloidosis, Ostertag type

MedGen UID:: 82799
•Concept ID:: C0268389
•: Disease or Syndrome

Synonyms:	Amyloidosis 8; Amyloidosis familial renal; Amyloidosis systemic nonneuropathic; Amyloidosis, hepatic and systemic; APOA1-Related Familial Visceral Amyloidosis; Familial visceral amyloidosis; FGA-Related Familial Visceral Amyloidosis; German type amyloidosis; LYZ-Related Familial Visceral Amyloidosis; Ostertag type amyloidosis
SNOMED CT:	Familial visceral amyloidosis, Ostertag type (66451004); Amyloid nephropathy of Ostertag (66451004); Amyloidosis VIII (66451004); Familial renal amyloidosis (66451004); German type amyloidosis (66451004)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Genes (locations): Gene(s) directly associated with this condition or phenotype.	APOA1 (11q23.3); B2M (15q21.1); FGA (4q31.3); LYZ (12q15)

Monarch Initiative:	MONDO:0007099
OMIM®:	105200
Orphanet:	ORPHA85450

Definition

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. [from ORDO]

Clinical features

From HPO

Hematuria

MedGen UID:: 5488
•Concept ID:: C0018965
•: Disease or Syndrome

The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine).

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Kidney disorder

MedGen UID:: 9635
•Concept ID:: C0022658
•: Disease or Syndrome

A nonspecific term referring to disease or damage of the kidneys.

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Nephrotic syndrome

MedGen UID:: 10308
•Concept ID:: C0027726
•: Disease or Syndrome

Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia.

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Proteinuria