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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.
 
Genes (locations): 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]

Additional description

From OMIM
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).  http://www.omim.org/entry/105200

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).
Kidney disorder
MedGen UID:
9635
Concept ID:
C0022658
Disease or Syndrome
A nonspecific term referring to disease or damage of the kidneys.
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.
Proteinuria
MedGen UID:
10976
Concept ID:
C0033687
Finding
Increased levels of protein in the urine.
Renal amyloidosis
MedGen UID:
120633
Concept ID:
C0268382
Disease or Syndrome
A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856).
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Cholestasis
MedGen UID:
925
Concept ID:
C0008370
Disease or Syndrome
Impairment of bile flow due to obstruction in bile ducts.
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Skin rash
MedGen UID:
1830322
Concept ID:
C5779628
Sign or Symptom
A red eruption of the skin.
Edema
MedGen UID:
4451
Concept ID:
C0013604
Pathologic Function
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Generalized amyloid deposition
MedGen UID:
354872
Concept ID:
C1862968
Finding
A diffuse form of amyloidosis.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial visceral amyloidosis, Ostertag type
Follow this link to review classifications for Familial visceral amyloidosis, Ostertag type in Orphanet.

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