MCID: FML293
MIFTS: 21

Familial Isolated Restrictive Cardiomyopathy

Categories: Rare diseases, Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Familial Isolated Restrictive Cardiomyopathy

MalaCards integrated aliases for Familial Isolated Restrictive Cardiomyopathy:

Name: Familial Isolated Restrictive Cardiomyopathy 59 6
Familial or Idiopathic Restrictive Cardiomyopathy 59

Characteristics:

Orphanet epidemiological data:

59
familial isolated restrictive cardiomyopathy
Inheritance: Autosomal dominant,Not applicable; Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Orphanet 59 ORPHA75249
ICD10 via Orphanet 34 I42.5

Summaries for Familial Isolated Restrictive Cardiomyopathy

MalaCards based summary : Familial Isolated Restrictive Cardiomyopathy, also known as familial or idiopathic restrictive cardiomyopathy, is related to gas gangrene and myocardial stunning. An important gene associated with Familial Isolated Restrictive Cardiomyopathy is TNNT2 (Troponin T2, Cardiac Type), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Related phenotypes are cardiovascular system and muscle

Related Diseases for Familial Isolated Restrictive Cardiomyopathy

Graphical network of the top 20 diseases related to Familial Isolated Restrictive Cardiomyopathy:



Diseases related to Familial Isolated Restrictive Cardiomyopathy

Symptoms & Phenotypes for Familial Isolated Restrictive Cardiomyopathy

MGI Mouse Phenotypes related to Familial Isolated Restrictive Cardiomyopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.26 FLNC MYPN TNNI3 TNNT2
2 muscle MP:0005369 8.92 FLNC MYPN TNNI3 TNNT2

Drugs & Therapeutics for Familial Isolated Restrictive Cardiomyopathy

Search Clinical Trials , NIH Clinical Center for Familial Isolated Restrictive Cardiomyopathy

Genetic Tests for Familial Isolated Restrictive Cardiomyopathy

Anatomical Context for Familial Isolated Restrictive Cardiomyopathy

Publications for Familial Isolated Restrictive Cardiomyopathy

Variations for Familial Isolated Restrictive Cardiomyopathy

ClinVar genetic disease variations for Familial Isolated Restrictive Cardiomyopathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYL2 NM_000432.3(MYL2): c.3G> A (p.Met1Ile) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 12, 111358331: 111358331
2 MYL2 NM_000432.3(MYL2): c.3G> A (p.Met1Ile) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 12, 110920527: 110920527

Expression for Familial Isolated Restrictive Cardiomyopathy

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

Pathways for Familial Isolated Restrictive Cardiomyopathy

Pathways related to Familial Isolated Restrictive Cardiomyopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 TNNI3 TNNT2
2 11.45 TNNI3 TNNT2
3 11.29 FLNC TNNI3 TNNT2
4 11.15 TNNI3 TNNT2
5 11.01 TNNI3 TNNT2
6 10.68 TNNI3 TNNT2

GO Terms for Familial Isolated Restrictive Cardiomyopathy

Cellular components related to Familial Isolated Restrictive Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.37 FLNC MYPN
2 myofibril GO:0030016 9.32 TNNI3 TNNT2
3 troponin complex GO:0005861 9.26 TNNI3 TNNT2
4 cardiac myofibril GO:0097512 9.16 TNNI3 TNNT2
5 cardiac Troponin complex GO:1990584 8.96 TNNI3 TNNT2
6 sarcomere GO:0030017 8.8 MYPN TNNI3 TNNT2

Biological processes related to Familial Isolated Restrictive Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.43 TNNI3 TNNT2
2 cardiac muscle contraction GO:0060048 9.4 TNNI3 TNNT2
3 sarcomere organization GO:0045214 9.37 MYPN TNNT2
4 muscle filament sliding GO:0030049 9.32 TNNI3 TNNT2
5 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.26 TNNI3 TNNT2
6 skeletal muscle contraction GO:0003009 9.16 TNNI3 TNNT2
7 regulation of muscle contraction GO:0006937 8.96 TNNI3 TNNT2
8 negative regulation of ATPase activity GO:0032780 8.62 TNNI3 TNNT2

Molecular functions related to Familial Isolated Restrictive Cardiomyopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeletal protein binding GO:0008092 9.16 FLNC MYPN
2 actin filament binding GO:0051015 9.13 FLNC MYPN TNNI3
3 troponin C binding GO:0030172 8.62 TNNI3 TNNT2

Sources for Familial Isolated Restrictive Cardiomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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