MCID: AMY034
MIFTS: 28

Amyloidosis, 3 or More Types malady

Genetic diseases (common) category

Summaries for Amyloidosis, 3 or More Types

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MalaCards based summary: Amyloidosis, 3 or More Types is related to multiple myeloma and spiradenoma. An important gene associated with Amyloidosis, 3 or More Types is APOA1 (apolipoprotein A-I), and among its related pathways are Response to elevated platelet cytosolic Ca2+ and Disease. The compounds 25-hydroxyvitamin d and captopril have been mentioned in the context of this disorder. Related mouse phenotypes are integument and liver/biliary system.

Description from OMIM:46 105200

Aliases & Classifications for Amyloidosis, 3 or More Types

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Amyloidosis, 3 or More Types, Aliases & Descriptions:

Name: Amyloidosis, 3 or More Types 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Amyloidosis, 3 or More Types

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Graphical network of the top 20 diseases related to Amyloidosis, 3 or More Types:



Diseases related to amyloidosis, 3 or more types

Symptoms for Amyloidosis, 3 or More Types

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Clinical features from OMIM:

105200

Drugs & Therapeutics for Amyloidosis, 3 or More Types

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Drug clinical trials:

Search ClinicalTrials for Amyloidosis, 3 or More Types

Search NIH Clinical Center for Amyloidosis, 3 or More Types

Genetic Tests for Amyloidosis, 3 or More Types

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Anatomical Context for Amyloidosis, 3 or More Types

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Animal Models for Amyloidosis, 3 or More Types or affiliated genes

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MGI Mouse Phenotypes related to Amyloidosis, 3 or More Types:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8FGA, APOA1, B2M
2MP:00053708.7FGA, APOA1, B2M
3MP:00053798.5FGA, APOA1, B2M

Publications for Amyloidosis, 3 or More Types

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Variations for Amyloidosis, 3 or More Types

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UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, 3 or More Types:

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, 3 or More Types:

7 (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 Amyloidosis, 3 or More Types

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Expression patterns in normal tissues for genes affiliated with Amyloidosis, 3 or More Types

Search GEO for disease gene expression data for Amyloidosis, 3 or More Types.

Pathways for genes affiliated with Amyloidosis, 3 or More Types

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Compounds for genes affiliated with Amyloidosis, 3 or More Types

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Compounds related to Amyloidosis, 3 or More Types according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
125-hydroxyvitamin d449.8APOA1, B2M
2captopril44 60 50 29 1213.8B2M, APOA1
3vitamin b12449.7B2M, APOA1
4an 69449.7FGA, B2M
56-ketoprostaglandin f1alpha449.7FGA, B2M
6uric acid44 2510.7APOA1, B2M
7cuprophan449.7B2M, FGA
8polysulfone449.7FGA, B2M
9nifedipine44 29 50 1212.7APOA1, B2M
10cellulose acetate449.7FGA, B2M
11thyroxine44 2510.7B2M, APOA1
12formaldehyde44 2510.7APOA1, B2M
13txb2449.6B2M, FGA
14pge1449.6FGA, B2M
15vitamin a44 25 1211.5B2M, APOA1
16prostacyclin449.5FGA, APOA1
17aspirin44 50 29 2512.4FGA, APOA1
18indomethacin44 29 60 1212.3APOA1, B2M
19acetylcholine44 50 29 25 1213.3FGA, APOA1
20sucrose44 25 1211.3B2M, LYZ
21nacl449.2FGA, LYZ
22iohexol449.2FGA, APOA1, B2M
23pge2449.2FGA, APOA1, B2M
24lactate449.2B2M, APOA1, FGA
25creatinine449.1FGA, APOA1, B2M
26cholesterol44 29 25 1212.1FGA, APOA1, B2M
27fibrinogen449.0FGA, APOA1
28serine448.8B2M, APOA1, FGA

GO Terms for genes affiliated with Amyloidosis, 3 or More Types

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Cellular components related to Amyloidosis, 3 or More Types according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.3FGA, B2M
2blood microparticleGO:0725629.2FGA, APOA1
3endoplasmic reticulum lumenGO:0057889.1APOA1, B2M
4extracellular spaceGO:0056158.1FGA, LYZ, APOA1, B2M
5extracellular regionGO:0055768.1B2M, APOA1, LYZ, FGA
6extracellular vesicular exosomeGO:0700628.0B2M, APOA1, LYZ, FGA

Biological processes related to Amyloidosis, 3 or More Types according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to drugGO:0424939.4APOA1, B2M
2platelet degranulationGO:0025769.2FGA, APOA1
3retina homeostasisGO:0018959.1LYZ, B2M
4platelet activationGO:0301689.0FGA, APOA1

Molecular functions related to Amyloidosis, 3 or More Types according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428028.6LYZ, APOA1, B2M

Products for genes affiliated with Amyloidosis, 3 or More Types

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Sources for Amyloidosis, 3 or More Types

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet