MCID: FML097
MIFTS: 16

Familial Amyloid Cardiomyopathy malady

Genetic diseases (common), Cardiovascular diseases categories
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Summaries for Familial Amyloid Cardiomyopathy

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Wikipedia:65 Familial amyloid cardiomyopathy (FAC), or Transthyretin (TTR) Amyloid Cardiomyopathy, or TTR amyloid... more...

MalaCards based summary: Familial Amyloid Cardiomyopathy, also known as danish type familial amyloid cardiomyopathy, is related to transthyretin amyloidosis and restrictive cardiomyopathy. An important gene associated with Familial Amyloid Cardiomyopathy is TTR (transthyretin). Affiliated tissues include heart.

Aliases & Classifications for Familial Amyloid Cardiomyopathy

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Familial Amyloid Cardiomyopathy, Aliases & Descriptions:

Name: Familial Amyloid Cardiomyopathy 20
 
Danish Type Familial Amyloid Cardiomyopathy 62


Classifications:

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


Related Diseases for Familial Amyloid Cardiomyopathy

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

idRelated DiseaseScoreTop Affiliating Genes
1transthyretin amyloidosis10.2
2restrictive cardiomyopathy10.2
3retinitis10.2

Symptoms for Familial Amyloid Cardiomyopathy

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Drugs & Therapeutics for Familial Amyloid Cardiomyopathy

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Drug clinical trials:

Search ClinicalTrials for Familial Amyloid Cardiomyopathy

Search NIH Clinical Center for Familial Amyloid Cardiomyopathy

Genetic Tests for Familial Amyloid Cardiomyopathy

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Genetic tests related to Familial Amyloid Cardiomyopathy:

id Genetic test Affiliating Genes
1 Familial Amyloid Cardiomyopathy20

Anatomical Context for Familial Amyloid Cardiomyopathy

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MalaCards organs/tissues related to Familial Amyloid Cardiomyopathy:

32
Heart

Animal Models for Familial Amyloid Cardiomyopathy or affiliated genes

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Publications for Familial Amyloid Cardiomyopathy

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Articles related to Familial Amyloid Cardiomyopathy:

(show all 14)
idTitleAuthorsYear
1
Structure-Based Analysis of A19D, a Variant of Transthyretin Involved in Familial Amyloid Cardiomyopathy. (24358189)
2013
2
Retinal microangiopathy as an initial manifestation of familial amyloid cardiomyopathy associated with transthyretin e89k mutation. (25391122)
2013
3
AG10 inhibits amyloidogenesis and cellular toxicity of the familial amyloid cardiomyopathy-associated V122I transthyretin. (23716704)
2013
4
Correction: Structure-Based Analysis of A19D, a Variant of Transthyretin Involved in Familial Amyloid Cardiomyopathy. (24391693)
2013
5
Two siblings diagnosed to have transthyretin-related familial amyloid cardiomyopathy around the same time at different hospitals. (22382560)
2012
6
Familial amyloid cardiomyopathy due to TTR mutations: an underdiagnosed cause of restrictive cardiomyopathy [corrected]. (19477408)
2009
7
Three siblings of familial amyloid cardiomyopathy with isoleucine-50 transthyretin mutation. (9314208)
1997
8
Verification of the transthyretin Met 111 mutation in familial amyloid cardiomyopathy of Danish origin by DNA sequencing. (8168822)
1994
9
Retrospective molecular detection of Transthyretin Met 111 mutation in a Danish kindred with familial amyloid cardiomyopathy, using DNA from formalin-fixed and paraffin-embedded tissues. (8406434)
1993
10
A Danish kindred with familial amyloid cardiomyopathy revisited: identification of a mutant transthyretin-methionine111 variant in serum from patients and carriers. (1626570)
1992
11
Molecular diagnosis of the transthyretin (TTR) Met111 mutation in familial amyloid cardiomyopathy of Danish origin. (1618497)
1992
12
Glycosaminoglycans in extracts of cardiac amyloid fibrils from familial amyloid cardiomyopathy of Danish origin related to variant transthyretin Met 111. (2068532)
1991
13
A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin. (3340821)
1988
14
The amyloid in familial amyloid cardiomyopathy of Danish origin is related to pre-albumin. (3924450)
1985

Variations for Familial Amyloid Cardiomyopathy

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Expression for genes affiliated with Familial Amyloid Cardiomyopathy

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Expression patterns in normal tissues for genes affiliated with Familial Amyloid Cardiomyopathy

Search GEO for disease gene expression data for Familial Amyloid Cardiomyopathy.

Pathways for genes affiliated with Familial Amyloid Cardiomyopathy

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Compounds for genes affiliated with Familial Amyloid Cardiomyopathy

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GO Terms for genes affiliated with Familial Amyloid Cardiomyopathy

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Products for genes affiliated with Familial Amyloid Cardiomyopathy

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  • Antibodies
  • Proteins
  • Lysates

Sources for Familial Amyloid Cardiomyopathy

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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