MCID: AMY034
MIFTS: 23

Amyloidosis, 3 or More Types malady

Genetic diseases (common) category
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Summaries for Amyloidosis, 3 or More Types

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47OMIM, 33MalaCards
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MalaCards: Amyloidosis, 3 or More Types is related to eye disease and amyloidosis. An important gene associated with Amyloidosis, 3 or More Types is APOA1 (apolipoprotein A-I), and among its related pathways are Hemostasis and Response to elevated platelet cytosolic Ca2+. The compounds nacl and iohexol have been mentioned in the context of this disorder.

Description from OMIM:47 105200

Aliases & Classifications for Amyloidosis, 3 or More Types

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47OMIM
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Classifications:

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


Aliases & Descriptions:

amyloidosis, 3 or more types 47


Related Diseases for Amyloidosis, 3 or More Types

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17GeneCards, 18GeneDecks
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Graphical network of 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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47OMIM
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Clinical features from OMIM:

105200

Drugs & Therapeutics for Amyloidosis, 3 or More Types

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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Publications for Amyloidosis, 3 or More Types

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Variations for Amyloidosis, 3 or More Types

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, 3 or More Types:

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 Amyloidosis, 3 or More Types:

1 (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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2BioGPS, 15Gene Expression Omnibus DataSets
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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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50PathCards, 55Reactome, 30KEGG
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Compounds for genes affiliated with Amyloidosis, 3 or More Types

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Sources:
45Novoseek, 51PharmGKB, 29IUPHAR, 24HMDB, 11DrugBank
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Compounds related to Amyloidosis, 3 or More Types according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nacl459.3LYZ, FGA
2iohexol459.3FGA, APOA1
3prostacyclin459.2FGA, APOA1
4aspirin45 51 29 2412.2FGA, APOA1
5fibrinogen459.1FGA, APOA1
6acetylcholine45 51 29 24 1113.1APOA1, FGA
7pge2459.0FGA, APOA1
8cholesterol45 29 24 1112.0FGA, APOA1
9lactate458.9FGA, APOA1
10creatinine458.7FGA, APOA1

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

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16Gene Ontology
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Cellular components related to Amyloidosis, 3 or More Types according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood microparticleGO:0725628.9FGA, APOA1
2extracellular spaceGO:0056158.5FGA, LYZ, APOA1
3extracellular vesicular exosomeGO:0700628.5FGA, LYZ, APOA1
4extracellular regionGO:0055768.2APOA1, LYZ, FGA

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

idNameGO IDScoreTop Affiliating Genes
1blood coagulationGO:0075969.0FGA, APOA1
2platelet degranulationGO:0025768.9FGA, APOA1
3platelet activationGO:0301688.7FGA, APOA1

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

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428029.3LYZ, APOA1

Products for genes affiliated with Amyloidosis, 3 or More Types

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Amyloidosis, 3 or More Types

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet