MCID: FML154
MIFTS: 21

Familial Restrictive Cardiomyopathy malady

Genetic diseases (common), Cardiovascular diseases categories

Aliases & Classifications for Familial Restrictive Cardiomyopathy

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Sources:
60UMLS, 21Genetics Home Reference, 22GTR, 43Novoseek
See all sources

Familial Restrictive Cardiomyopathy, Aliases & Descriptions:

Name: Familial Restrictive Cardiomyopathy 21 22
Cardiomyopathy, Familial Restrictive, 1 60
Cardiomyopathy, Restrictive 21
 
Cardiomyopathy Restrictive 43
Restrictive Cardiomyopathy 60
Rcm 21


Classifications:

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


Summaries for Familial Restrictive Cardiomyopathy

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Genetics Home Reference:21 Familial restrictive cardiomyopathy is a genetic form of heart disease. For the heart to beat normally, the heart (cardiac) muscle must contract and relax in a coordinated way. Oxygen-rich blood from the lungs travels first through the upper chambers of the heart (the atria), and then to the lower chambers of the heart (the ventricles).

MalaCards based summary: Familial Restrictive Cardiomyopathy, also known as cardiomyopathy, familial restrictive, 1, is related to restrictive cardiomyopathy and tnni3-related familial restrictive cardiomyopathy. An important gene associated with Familial Restrictive Cardiomyopathy is TNNI3 (troponin I type 3 (cardiac)). Affiliated tissues include heart and lung.

Related Diseases for Familial Restrictive Cardiomyopathy

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Graphical network of diseases related to Familial Restrictive Cardiomyopathy:



Diseases related to familial restrictive cardiomyopathy

Symptoms for Familial Restrictive Cardiomyopathy

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Drugs & Therapeutics for Familial Restrictive Cardiomyopathy

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Drug clinical trials:

Search ClinicalTrials for Familial Restrictive Cardiomyopathy

Search NIH Clinical Center for Familial Restrictive Cardiomyopathy

Genetic Tests for Familial Restrictive Cardiomyopathy

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Genetic tests related to Familial Restrictive Cardiomyopathy:

id Genetic test Affiliating Genes
1 Familial Restrictive Cardiomyopathy22

Anatomical Context for Familial Restrictive Cardiomyopathy

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MalaCards organs/tissues related to Familial Restrictive Cardiomyopathy:

31
Heart, Lung

Animal Models for Familial Restrictive Cardiomyopathy or affiliated genes

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Publications for Familial Restrictive Cardiomyopathy

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Articles related to Familial Restrictive Cardiomyopathy:

idTitleAuthorsYear
1
Disturbance in Z-disk mechanosensitive proteins induced by a persistent mutant myopalladin causes familial restrictive cardiomyopathy. (25541130)
2014
2
Titin mutation in familial restrictive cardiomyopathy. (24315344)
2014
3
Familial restrictive cardiomyopathy with 12 affected family members. (22071211)
2012
4
Familial restrictive cardiomyopathy with atrioventricular block without skeletal myopathy. (18650983)
2007
5
Familial restrictive cardiomyopathy with skeletal abnormalities. (12943897)
2003
6
Familial restrictive cardiomyopathy with atrioventricular block and skeletal myopathy. (2317404)
1990
7
Familial restrictive cardiomyopathy. (2977941)
1988

Variations for Familial Restrictive Cardiomyopathy

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Clinvar genetic disease variations for Familial Restrictive Cardiomyopathy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1TNNI3NM_000363.4(TNNI3): c.569A> G (p.Asp190Gly)single nucleotide variantPathogenicrs104894728GRCh37Chr 19, 55663266: 55663266
2TNNI3NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp)single nucleotide variantPathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
3MT-RNR1m.1555A> Gsingle nucleotide variantPathogenicrs267606617GRCh37Chr MT, 1555: 1555

Expression for genes affiliated with Familial Restrictive Cardiomyopathy

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

Pathways for genes affiliated with Familial Restrictive Cardiomyopathy

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Compounds for genes affiliated with Familial Restrictive Cardiomyopathy

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GO Terms for genes affiliated with Familial Restrictive Cardiomyopathy

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Products for genes affiliated with Familial Restrictive Cardiomyopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Familial Restrictive 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