MCID: FML097
MIFTS: 14

Familial Amyloid Cardiomyopathy malady

Genetic diseases (common), Cardiovascular diseases categories

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 60


Classifications:

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


Summaries for Familial Amyloid Cardiomyopathy

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Wikipedia:63 Transthyretin Amyloid Cardiomyopathy (ATTR-CM), or Familial Amyloid Cardiomyopathy (FAC), results from... more...

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

Related Diseases for Familial Amyloid Cardiomyopathy

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

idRelated DiseaseScoreTop Affiliating Genes
1transthyretin-related familial amyloid cardiomyopathy10.5
2amyloidosis, hereditary, transthyretin-related10.2
3restrictive cardiomyopathy10.2
4retinitis10.2

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:

31
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 13)
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
Correction: Structure-Based Analysis of A19D, a Variant of Transthyretin Involved in Familial Amyloid Cardiomyopathy. (24391693)
2013
4
Two siblings diagnosed to have transthyretin-related familial amyloid cardiomyopathy around the same time at different hospitals. (22382560)
2012
5
Familial amyloid cardiomyopathy due to TTR mutations: an underdiagnosed cause of restrictive cardiomyopathy [corrected]. (19477408)
2009
6
Three siblings of familial amyloid cardiomyopathy with isoleucine-50 transthyretin mutation. (9314208)
1997
7
Verification of the transthyretin Met 111 mutation in familial amyloid cardiomyopathy of Danish origin by DNA sequencing. (8168822)
1994
8
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
9
A Danish kindred with familial amyloid cardiomyopathy revisited: identification of a mutant transthyretin-methionine111 variant in serum from patients and carriers. (1626570)
1992
10
Molecular diagnosis of the transthyretin (TTR) Met111 mutation in familial amyloid cardiomyopathy of Danish origin. (1618497)
1992
11
Glycosaminoglycans in extracts of cardiac amyloid fibrils from familial amyloid cardiomyopathy of Danish origin related to variant transthyretin Met 111. (2068532)
1991
12
A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin. (3340821)
1988
13
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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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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Familial Amyloid Cardiomyopathy

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet