MCID: FML003
MIFTS: 42

Familial Visceral Amyloidosis malady

Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Metabolic diseases, Ear diseases categories
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Summaries for Familial Visceral Amyloidosis

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Wikipedia:65 Familial renal amyloidosis (or familial visceral amyloidosis, or hereditary amyloid nephropathy) is a... more...

MalaCards based summary: Familial Visceral Amyloidosis, also known as amyloidosis, systemic nonneuropathic, is related to amyloidosis and multiple myeloma, and has symptoms including An important gene associated with Familial Visceral Amyloidosis is FGA (fibrinogen alpha chain), and among its related pathways are Response to elevated platelet cytosolic Ca2+ and Disease. The compounds an 69 and 6-ketoprostaglandin f1alpha have been mentioned in the context of this disorder. Affiliated tissues include kidney and bone, and related mouse phenotypes are integument and liver/biliary system.

Description from OMIM:46 105200

Aliases & Classifications for Familial Visceral Amyloidosis

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 62UMLS, 46OMIM, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet
See all sources

Familial Visceral Amyloidosis, Aliases & Descriptions:

Name: Familial Visceral Amyloidosis 8
Amyloidosis, Systemic Nonneuropathic 44 62
Amyloidosis, Familial Visceral 46 62
Hereditary Amyloid Nephropathy 48 62
Hereditary Renal Amyloidosis 48 62
Ostertag Type Amyloidosis 8 42
German Type Amyloidosis 8 42
Amyloidosis Viii 42 62
Amyloidosis 8 42 62
 
Progressive Hereditary Glomerulonephritis Without Deafness 62
Systemic Nonneuropathic Amyloidosis 8
Amyloidosis Systemic Nonneuropathic 42
Amyloidosis Familial Visceral 42
Familial Amyloid Nephropathy 48
Amyloidosis, Familial Renal 8
Amyloidosis, Ostertag Type 48
Familial Renal Amyloidosis 48
Amyloidosis Familial Renal 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
hereditary amyloid nephropathy:
Inheritance: Autosomal dominant; Age of onset: Variable


External Ids:

Disease Ontology8 DOID:0050636
OMIM46 105200
ICD10 via Orphanet26 E85.0

Related Diseases for Familial Visceral Amyloidosis

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Diseases in the Familial Visceral Amyloidosis family:

Apoa1-Related Familial Visceral Amyloidosis Fga-Related Familial Visceral Amyloidosis
Lyz-Related Familial Visceral Amyloidosis

Diseases related to Familial Visceral Amyloidosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 33)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis29.7APOA1, B2M, LYZ
2multiple myeloma10.4B2M
3spiradenoma10.3LYZ
4apoa1-related familial visceral amyloidosis10.3
5fga-related familial visceral amyloidosis10.3
6lyz-related familial visceral amyloidosis10.3
7familial renal amyloidosis due to apolipoprotein aii variant10.3
8familial renal amyloidosis due to fibrinogen a alpha-chain variant10.3
9familial renal amyloidosis due to apolipoprotein ai variant10.3
10familial renal amyloidosis due to lysozyme variant10.3
11muckle-wells syndrome10.2
12hypersensitivity reaction type ii disease10.1B2M, LYZ
13amyloidosis, secondary10.0B2M, APOA1
14coronary stenosis10.0FGA, APOA1
15transthyretin amyloidosis10.0
16thromboembolism10.0FGA, APOA1
17non-hodgkin lymphoma10.0FGA, B2M
18hypercholesterolemia10.0APOA1, FGA
19acute myocardial infarction10.0FGA, APOA1
20essential hypertension10.0FGA, APOA1
21diabetic nephropathy10.0B2M, APOA1
22immunodeficiency with hyper igm type 210.0FGA, B2M
23arthritis10.0B2M, LYZ
24primary hyperoxaluria10.0LYZ, APOA1
25type 1 diabetes mellitus10.0B2M, APOA1
26vascular disease9.9FGA, APOA1
27coronary artery anomaly9.9FGA, APOA1
28leukemia9.8LYZ, FGA, B2M
29nephrotic syndrome9.8B2M, APOA1, FGA
30proteinuria9.8FGA, B2M, APOA1
31chronic kidney failure9.8B2M, APOA1, FGA
32diabetes mellitus9.8FGA, APOA1, B2M
33myocardial infarction9.8APOA1, FGA

Graphical network of the top 20 diseases related to Familial Visceral Amyloidosis:



Diseases related to familial visceral amyloidosis

Symptoms for Familial Visceral Amyloidosis

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Symptoms by clinical synopsis from OMIM:

105200

Clinical features from OMIM:

105200

HPO human phenotypes related to Familial Visceral Amyloidosis:

(show all 12)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 proteinuria HP:0000093
3 nephrotic syndrome HP:0000100
4 nephropathy HP:0000112
5 hematuria HP:0000790
6 hypertension HP:0000822
7 edema HP:0000969
8 skin rash HP:0000988
9 cholestasis HP:0001396
10 splenomegaly HP:0001744
11 hepatomegaly HP:0002240
12 generalized amyloid deposition HP:0003216

Drugs & Therapeutics for Familial Visceral Amyloidosis

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Drug clinical trials:

Search ClinicalTrials for Familial Visceral Amyloidosis

Search NIH Clinical Center for Familial Visceral Amyloidosis

Genetic Tests for Familial Visceral Amyloidosis

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Anatomical Context for Familial Visceral Amyloidosis

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MalaCards organs/tissues related to Familial Visceral Amyloidosis:

32
Kidney, Bone

Animal Models for Familial Visceral Amyloidosis or affiliated genes

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MGI Mouse Phenotypes related to Familial Visceral Amyloidosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.6FGA, APOA1, B2M
2MP:00053708.5FGA, APOA1, B2M
3MP:00053798.3FGA, APOA1, B2M

Publications for Familial Visceral Amyloidosis

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Variations for Familial Visceral Amyloidosis

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UniProtKB/Swiss-Prot genetic disease variations for Familial Visceral Amyloidosis:

64
id Symbol AA change Variation ID SNP ID
1APOA1p.Gly50ArgVAR_000609rs28931574
2APOA1p.Leu84ArgVAR_000610
3FGAp.Glu545ValVAR_010731
4FGAp.Arg573LeuVAR_010732
5LYZp.Ile74ThrVAR_004280
6LYZp.Asp85HisVAR_004281

Clinvar genetic disease variations for Familial Visceral Amyloidosis:

6 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1LYZNM_000239.2(LYZ): c.221T> C (p.Ile74Thr)single nucleotide variantPathogenicrs121913547GRCh37Chr 12, 69743972: 69743972
2LYZNM_000239.2(LYZ): c.199G> C (p.Asp67His)single nucleotide variantPathogenicrs387906535GRCh37Chr 12, 69743950: 69743950
3LYZNM_000239.2(LYZ): c.244T> C (p.Trp82Arg)single nucleotide variantPathogenicrs387906536GRCh37Chr 12, 69743995: 69743995
4LYZNM_000239.2(LYZ): c.223T> A (p.Phe75Ile)single nucleotide variantPathogenicrs121913549GRCh37Chr 12, 69743974: 69743974
5LYZNM_000239.2(LYZ): c.244T> A (p.Trp82Arg)single nucleotide variantPathogenicrs387906536GRCh37Chr 12, 69743995: 69743995
6FGANM_000508.3(FGA): c.1718G> T (p.Arg573Leu)single nucleotide variantPathogenicrs78506343GRCh37Chr 4, 155506863: 155506863
7FGAFGA, 1-BP DEL, 4897TdeletionPathogenic
8FGANM_021871.2(FGA): c.1634A> T (p.Glu545Val)single nucleotide variantPathogenicrs121909612GRCh37Chr 4, 155506947: 155506947
9FGAFGA, 1-BP DEL, 4904GdeletionPathogenic
10APOA1NM_000039.1(APOA1): c.251T> G (p.Leu84Arg)single nucleotide variantPathogenicrs121912724GRCh37Chr 11, 116707077: 116707077
11APOA1NM_000039.1(APOA1): c.220T> C (p.Trp74Arg)single nucleotide variantPathogenicrs121912726GRCh37Chr 11, 116707108: 116707108
12APOA1NM_000039.1(APOA1): c.593T> C (p.Leu198Ser)single nucleotide variantPathogenicrs121912729GRCh37Chr 11, 116706735: 116706735
13APOA1NM_000039.1(APOA1): c.595G> C (p.Ala199Pro)single nucleotide variantPathogenicrs121912730GRCh37Chr 11, 116706733: 116706733
14B2MNM_004048.2(B2M): c.286G> A (p.Asp96Asn)single nucleotide variantPathogenicrs398122820GRCh37Chr 15, 45007839: 45007839

Expression for genes affiliated with Familial Visceral Amyloidosis

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Expression patterns in normal tissues for genes affiliated with Familial Visceral Amyloidosis

Search GEO for disease gene expression data for Familial Visceral Amyloidosis.

Pathways for genes affiliated with Familial Visceral Amyloidosis

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Compounds for genes affiliated with Familial Visceral Amyloidosis

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Compounds related to Familial Visceral Amyloidosis according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1an 69449.8FGA, B2M
26-ketoprostaglandin f1alpha449.8FGA, B2M
3cuprophan449.8B2M, FGA
4polysulfone449.8B2M, FGA
5cellulose acetate449.8B2M, FGA
6txb2449.8B2M, FGA
7pge1449.7B2M, FGA
8nacl449.5FGA, LYZ
925-hydroxyvitamin d449.5B2M, APOA1
10sucrose44 24 1111.4B2M, LYZ
11captopril44 61 50 28 1113.4APOA1, B2M
12vitamin b12449.4APOA1, B2M
13uric acid44 2410.4APOA1, B2M
14nifedipine44 28 50 1112.4B2M, APOA1
15thyroxine44 2410.4APOA1, B2M
16formaldehyde44 2410.4APOA1, B2M
17prostacyclin449.3APOA1, FGA
18vitamin a44 24 1111.3APOA1, B2M
19aspirin44 50 28 2412.2FGA, APOA1
20acetylcholine44 50 28 24 1113.1FGA, APOA1
21indomethacin44 28 61 1112.0B2M, APOA1
22iohexol449.0B2M, APOA1, FGA
23pge2449.0FGA, APOA1, B2M
24lactate449.0FGA, B2M, APOA1
25creatinine448.9B2M, APOA1, FGA
26cholesterol44 28 24 1111.9APOA1, B2M, FGA
27fibrinogen448.8FGA, APOA1
28serine448.6FGA, APOA1, B2M

GO Terms for genes affiliated with Familial Visceral Amyloidosis

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Cellular components related to Familial Visceral Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.4B2M, FGA
2blood microparticleGO:0725629.0FGA, APOA1
3endoplasmic reticulum lumenGO:0057888.8APOA1, B2M
4extracellular spaceGO:0056158.1APOA1, B2M, LYZ, FGA
5extracellular regionGO:0055768.1FGA, B2M, APOA1, LYZ
6extracellular vesicular exosomeGO:0700628.0B2M, APOA1, LYZ, FGA

Biological processes related to Familial Visceral Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1retina homeostasisGO:0018959.3LYZ, B2M
2response to drugGO:0424939.1APOA1, B2M
3platelet degranulationGO:0025769.0FGA, APOA1
4platelet activationGO:0301688.8FGA, APOA1

Molecular functions related to Familial Visceral Amyloidosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428028.5LYZ, APOA1, B2M

Products for genes affiliated with Familial Visceral Amyloidosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Familial Visceral Amyloidosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet