MCID: AMY082
MIFTS: 43

Amyloidosis, Familial Visceral malady

Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases categories

Aliases & Classifications for Amyloidosis, Familial Visceral

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Sources:
46OMIM, 61UMLS, 9diseasecard, 8Disease Ontology, 42NIH Rare Diseases, 48Orphanet, 44Novoseek, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Amyloidosis, Familial Visceral:

Name: Amyloidosis, Familial Visceral 46 61
Hereditary Amyloid Nephropathy 42 48 61
Hereditary Renal Amyloidosis 42 48
Amyloidosis, 3 or More Types 46 9
Familial Amyloid Nephropathy 42 48
Familial Renal Amyloidosis 42 48
Amyloidosis, Ostertag Type 42 48
Ostertag Type Amyloidosis 8 42
German Type Amyloidosis 8 42
Amyloidosis, Systemic Nonneuropathic 44
Amyloidosis Systemic Nonneuropathic 42
 
Systemic Nonneuropathic Amyloidosis 8
Amyloidosis Familial Visceral 42
Familial Visceral Amyloidosis 8
Amyloidosis, Familial Renal 8
Amyloidosis Familial Renal 42
Amyloid Nephropathy 61
Amyloidosis, Renal 46
Renal Amyloidosis 44
Amyloidosis Viii 42
Amyloidosis 8 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 105200
Disease Ontology8 DOID:0050636
Orphanet48 85450
ICD10 via Orphanet26 E85.0

Summaries for Amyloidosis, Familial Visceral

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Wikipedia:64 Familial renal amyloidosis (or familial visceral amyloidosis, or hereditary amyloid nephropathy) is a... more...

MalaCards based summary: Amyloidosis, Familial Visceral, also known as hereditary amyloid nephropathy, is related to amyloidosis and arthritis, and has symptoms including autosomal dominant inheritance, proteinuria and nephrotic syndrome. An important gene associated with Amyloidosis, Familial Visceral 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, bone and skin, and related mouse phenotypes are integument and liver/biliary system.

Description from OMIM:46 105200

Related Diseases for Amyloidosis, Familial Visceral

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Diseases in the Amyloidosis, Familial Visceral family:

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

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

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis30.6B2M, APOA1, LYZ
2arthritis30.4LYZ, B2M
3secondary amyloidosis30.3B2M, APOA1
4nephrotic syndrome30.1FGA, APOA1, B2M
5proteinuria30.1B2M, APOA1, FGA
6apoa1-related familial visceral amyloidosis10.4
7fga-related familial visceral amyloidosis10.4
8lyz-related familial visceral amyloidosis10.4
9glomerulonephritis10.4
10multiple myeloma10.4B2M
11rheumatoid arthritis10.3
12muckle-wells syndrome10.3
13eye disease10.3LYZ
14crescentic glomerulonephritis10.3
15castleman's disease10.2
16familial renal amyloidosis due to apolipoprotein aii variant10.2
17familial renal amyloidosis due to fibrinogen a alpha-chain variant10.2
18familial renal amyloidosis due to apolipoprotein ai variant10.2
19familial renal amyloidosis due to lysozyme variant10.2
20familial cold-induced inflammatory syndrome 110.1
21pure red-cell aplasia10.1
22bronchiectasis10.1
23rapidly progressive glomerulonephritis10.1
24adult-onset still's disease10.1
25interstitial nephritis10.1
26hypoaldosteronism10.1
27nephritis10.1
28hypersensitivity reaction type ii disease10.1B2M, LYZ
29coronary stenosis10.0FGA, APOA1
30thrombophilia due to thrombin defect10.0APOA1, FGA
31lymphoma, non-hodgkin10.0FGA, B2M
32hypercholesterolemia, familial10.0FGA, APOA1
33sickle cell anemia10.0
34aspergillosis10.0
35hyper-igd syndrome10.0
36factor x deficiency10.0
37leprosy10.0
38hypoalphalipoproteinemia10.0
39familial mediterranean fever, ar10.0
40familial mediterranean fever, ad10.0
41chronic granulomatous disease10.0
42common variable immunodeficiency10.0
43crohn's disease10.0
44hepatitis10.0
45diabetes insipidus10.0
46tuberculoid leprosy10.0
47juvenile rheumatoid arthritis10.0
48whipple disease10.0
49invasive aspergillosis10.0
50papillary carcinoma10.0

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



Diseases related to amyloidosis, familial visceral

Symptoms for Amyloidosis, Familial Visceral

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Symptoms by clinical synopsis from OMIM:

105200

Clinical features from OMIM:

105200

HPO human phenotypes related to Amyloidosis, Familial Visceral:

(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 Amyloidosis, Familial Visceral

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Drug clinical trials:

Search ClinicalTrials for Amyloidosis, Familial Visceral

Search NIH Clinical Center for Amyloidosis, Familial Visceral

Genetic Tests for Amyloidosis, Familial Visceral

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Anatomical Context for Amyloidosis, Familial Visceral

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MalaCards organs/tissues related to Amyloidosis, Familial Visceral:

31
Kidney, Bone, Skin

Animal Models for Amyloidosis, Familial Visceral or affiliated genes

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MGI Mouse Phenotypes related to Amyloidosis, Familial Visceral:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.6FGA, APOA1, B2M
2MP:00053708.5FGA, APOA1, B2M
3MP:00053798.3FGA, APOA1, B2M

Publications for Amyloidosis, Familial Visceral

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Variations for Amyloidosis, Familial Visceral

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

63
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 Amyloidosis, Familial Visceral:

5 (show all 14)
id Gene Variation 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 Amyloidosis, Familial Visceral

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

Pathways for genes affiliated with Amyloidosis, Familial Visceral

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Compounds for genes affiliated with Amyloidosis, Familial Visceral

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Compounds related to Amyloidosis, Familial Visceral according to GeneCards Suite gene sharing:

(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 60 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 60 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 Amyloidosis, Familial Visceral

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Cellular components related to Amyloidosis, Familial Visceral according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098979.4FGA, B2M
2blood microparticleGO:00725629.0FGA, APOA1
3endoplasmic reticulum lumenGO:00057888.8APOA1, B2M
4extracellular spaceGO:00056158.1FGA, LYZ, APOA1, B2M
5extracellular regionGO:00055768.1B2M, APOA1, LYZ, FGA
6extracellular vesicular exosomeGO:00700628.0B2M, APOA1, LYZ, FGA

Biological processes related to Amyloidosis, Familial Visceral according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1retina homeostasisGO:00018959.3LYZ, B2M
2response to drugGO:00424939.1APOA1, B2M
3platelet degranulationGO:00025769.0FGA, APOA1
4platelet activationGO:00301688.8FGA, APOA1

Molecular functions related to Amyloidosis, Familial Visceral according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428028.5LYZ, APOA1, B2M

Sources for Amyloidosis, Familial Visceral

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet