MCID: FML097
MIFTS: 12

Familial Amyloid Cardiomyopathy malady

Cardiovascular, Genetic categories

Summaries for Familial Amyloid Cardiomyopathy

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64Wikipedia, 33MalaCards
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Wikipedia:64 Familial amyloid cardiomyopathy (FAC), or Transthyretin (TTR) Amyloid Cardiomyopathy, or TTR amyloid... more...

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

Aliases & Classifications for Familial Amyloid Cardiomyopathy

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20GeneTests, 61UMLS
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Classifications:

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


Aliases & Descriptions:

familial amyloid cardiomyopathy 20
danish type familial amyloid cardiomyopathy 61


Related Diseases for Familial Amyloid Cardiomyopathy

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17GeneCards, 18GeneDecks
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Diseases related to Familial Amyloid Cardiomyopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1familial restrictive cardiomyopathy10.1

Clinical Features for Familial Amyloid Cardiomyopathy

Drugs & Therapeutics for Familial Amyloid Cardiomyopathy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Familial Amyloid Cardiomyopathy

Search CenterWatch for Familial Amyloid Cardiomyopathy

Genetic Tests for Familial Amyloid Cardiomyopathy

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20GeneTests
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Familial Amyloid Cardiomyopathy:

33
Heart, Liver

Animal Models for Familial Amyloid Cardiomyopathy or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Familial Amyloid Cardiomyopathy

Sources:
51PubMed
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Articles related to Familial Amyloid Cardiomyopathy:

(show all 21)
idTitleAuthorsYear
1
Structure-Based Analysis of A19D, a Variant of Transthyretin Involved in Familial Amyloid Cardiomyopathy. (24358189)
2013
2
AG10 inhibits amyloidogenesis and cellular toxicity of the familial amyloid cardiomyopathy-associated V122I transthyretin. (23716704)
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
Clinical features and survival in senile systemic amyloidosis: comparison to familial transthyretin cardiomyopathy. (21838471)
2011
6
Prognostic value of pre-transplant cardiomyopathy in Swedish liver transplanted patients for familial amyloidotic polyneuropathy. (21838476)
2011
7
Familial amyloid cardiomyopathy due to TTR mutations: an underdiagnosed cause of restrictive cardiomyopathy [corrected]. (19477408)
2009
8
Accelerating restrictive cardiomyopathy after liver transplantation in a patient with familial amyloidotic polyneuropathy: a case report. (18241340)
2008
9
Images in cardiovascular medicine. Restrictive cardiomyopathy in familial amyloidosis TTR-Arg-50. (12566380)
2003
10
Restrictive cardiomyopathy in familial amyloidosis TTR-Arg-50. (12966927)
2003
11
Restrictive cardiomyopathy in familial amyloidosis TTR-Arg-50. (12963686)
2003
12
Progression of cardiomyopathy after liver transplantation in patients with familial amyloidotic polyneuropathy, Portuguese type. (11907421)
2002
13
Three siblings of familial amyloid cardiomyopathy with isoleucine-50 transthyretin mutation. (9314208)
1997
14
Purification and characterization of amyloid-related transthyretin associated with familial amyloidotic cardiomyopathy. (7867637)
1995
15
Verification of the transthyretin Met 111 mutation in familial amyloid cardiomyopathy of Danish origin by DNA sequencing. (8168822)
1994
16
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
17
A Danish kindred with familial amyloid cardiomyopathy revisited: identification of a mutant transthyretin-methionine111 variant in serum from patients and carriers. (1626570)
1992
18
Molecular diagnosis of the transthyretin (TTR) Met111 mutation in familial amyloid cardiomyopathy of Danish origin. (1618497)
1992
19
Glycosaminoglycans in extracts of cardiac amyloid fibrils from familial amyloid cardiomyopathy of Danish origin related to variant transthyretin Met 111. (2068532)
1991
20
A new prealbumin variant in familial amyloid cardiomyopathy of Danish origin. (3340821)
1988
21
The amyloid in familial amyloid cardiomyopathy of Danish origin is related to pre-albumin. (3924450)
1985

Genetic Variations for Familial Amyloid Cardiomyopathy

Expression for genes affiliated with Familial Amyloid Cardiomyopathy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Familial Amyloid Cardiomyopathy

GO Terms for genes affiliated with Familial Amyloid Cardiomyopathy

Products for genes affiliated with Familial Amyloid Cardiomyopathy

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Amyloid Cardiomyopathy

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet