MCID: FML154
MIFTS: 29

Familial Restrictive Cardiomyopathy malady

Genetic diseases (common), Cardiovascular diseases, Muscle diseases categories

Aliases & Classifications for Familial Restrictive Cardiomyopathy

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Sources:
65UMLS, 23Genetics Home Reference, 24GTR, 47Novoseek
See all sources

Aliases & Descriptions for Familial Restrictive Cardiomyopathy:

Name: Familial Restrictive Cardiomyopathy 23 24
Cardiomyopathy, Familial Restrictive, 1 65
Cardiomyopathy, Restrictive 23
 
Cardiomyopathy Restrictive 47
Restrictive Cardiomyopathy 65
Rcm 23


Classifications:



Summaries for Familial Restrictive Cardiomyopathy

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Genetics Home Reference:23 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 cardiomyopathy. An important gene associated with Familial Restrictive Cardiomyopathy is TNNI3 (Troponin I Type 3 (Cardiac)), and among its related pathways are Cardiac muscle contraction and Non-integrin membrane-ECM interactions. Affiliated tissues include heart and lung.

Related Diseases for Familial Restrictive Cardiomyopathy

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Diseases in the Restrictive Cardiomyopathy family:

Cardiomyopathy, Familial Restrictive, 3 Cardiomyopathy, Familial Restrictive, 2
Cardiomyopathy, Familial Restrictive, 1 Tnni3-Related Familial Restrictive Cardiomyopathy
Tnnt2-Related Familial Restrictive Cardiomyopathy familial restrictive cardiomyopathy

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1restrictive cardiomyopathy10.5
2cardiomyopathy10.5
3tnni3-related familial restrictive cardiomyopathy10.3
4tnnt2-related familial restrictive cardiomyopathy10.3
5atrioventricular block10.3
6myopathy10.3
7cancer-associated retinopathy10.2MYPN, TNNI3
8x-linked cleft palate and ankyloglossia10.1MYH7, TTN
9nephrogenic adenoma of urinary bladder10.1MYH7, TTN
10keratitis10.1
11acanthamoeba keratitis10.1
12childhood restrictive cardiomyopathy10.1
13ichthyosis lamellar 110.1NPPB, TNNI3
14hemangioma10.1NPPB, TNNI3
15endometrial mucinous adenocarcinoma10.0MYH7, NPPB
16gallbladder melanoma10.0MYH7, NPPB
17pulmonary eosinophilia10.0NPPB, TNNI3
18adult acute lymphocytic leukemia10.0NPPB, TNNI3
19whiplash10.0DES, TTN
20reductional transverse limb defects10.0DES, TTN
21cardiomyopathy, hypertrophic, 810.0
22tetralogy of fallot10.0
23dilated cardiomyopathy10.0
24pulmonary edema10.0
25hypertrophic cardiomyopathy10.0
26dermatomyositis10.0
27ceroid lipofuscinosis, neuronal, 610.0MYH7, NPPB
28invasive bladder transitional cell carcinoma10.0MYH7, TNNI3, TTN
29aortic valve disease 19.9MYH7, NPPB, TNNI3
30vesiculobullous skin disease9.9MYH7, NPPB
31minicore myopathy with external ophthalmoplegia9.9DES, MYH7
32atrophic glossitis9.9DES, NPPB
33cardiomyopathy, familial hypertrophic9.8MYH7, MYPN, TNNI3, TTN
34lethal congenital contracture syndrome 59.8DES, TTN
35respiratory system benign neoplasm9.8TTN, TTR
36acute pericementitis9.8DES, MYH7, TTN
37congenital hemolytic anemia9.8MYH7, NPPB, TNNI3, TTN
38noonan syndrome 19.7MYH7, MYPN, TNNI3, TTR
39myopathy of extraocular muscle9.7DES, MYH7, TTN
40muscular dystrophy9.7DES, MYH7, TNNI3, TTN
41fat necrosis of breast9.7DES, MYH7, TNNI3, TTN
42septate vagina9.5DES, MYH7, MYPN, TNNI3, TTN
43drug-induced hepatitis9.3DES, MYH7, MYPN, NPPB, TNNI3, TTN
44rete ovarii adenoma9.2DES, MT-RNR1, MYH7, MYPN, TNNI3, TTR
45cardiomyopathy with or without skeletal myopathy9.1DES, MYH7, MYPN, NPPB, TNNI3, TTN
46focal palmoplantar keratoderma8.9DES, MT-RNR1, MYH7, MYPN, NPPB, TNNI3

Graphical network of the top 20 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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Interventional clinical trials:

idNameStatusNCT IDPhase
1Prospective Observation of Exercise Parameters in Advanced Heart FailureCompletedNCT01210573
2Genotype-Phenotype Associations in Pediatric Cardiomyopathy (PCM GENES)RecruitingNCT01873963
3Pediatric Cardiomyopathy Mutation AnalysisRecruitingNCT02432092
4New Echocardiographic Parameters for Assessment of Longitudinal Left Ventricular FunctionRecruitingNCT01275963
5Non-invasive Evaluation of Myocardial Stiffness by ElastographyRecruitingNCT02537041
6Novel Cardiac Magnetic Resonance Imaging to Define a Unique Restrictive Cardiomyopathy in Sickle Cell DiseaseActive, not recruitingNCT02410811
7The Genetics of Cardiomyopathy and Heart FailureActive, not recruitingNCT00703443
8Prognostic Factors , Morbidity and Mortality in Patients With Muscular Dystrophies Admitted in ICUNot yet recruitingNCT02685215
9Plasty or Prosthesis to Treat Functional Mitral RegurgitationSuspendedNCT00947921

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 Cardiomyopathy24

Anatomical Context for Familial Restrictive Cardiomyopathy

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MalaCards organs/tissues related to Familial Restrictive Cardiomyopathy:

33
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:

5
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.575G> A (p.Arg192His)single nucleotide variantLikely pathogenic, Pathogenicrs104894729GRCh37Chr 19, 55663260: 55663260
3TNNI3NM_000363.4(TNNI3): c.433C> T (p.Arg145Trp)single nucleotide variantLikely pathogenic, Pathogenicrs104894724GRCh37Chr 19, 55665514: 55665514
4TNNI3NM_000363.4(TNNI3): c.511G> A (p.Ala171Thr)single nucleotide variantPathogenicrs121917761GRCh37Chr 19, 55665436: 55665436
5MYH7NM_000257.3(MYH7): c.2302G> A (p.Gly768Arg)single nucleotide variantLikely pathogenic, Pathogenicrs727503260GRCh37Chr 14, 23894612: 23894612
6TNNI3NM_000363.4(TNNI3): c.509G> A (p.Arg170Gln)single nucleotide variantPathogenicrs727503503GRCh37Chr 19, 55665438: 55665438
7MT-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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GO Terms for genes affiliated with Familial Restrictive Cardiomyopathy

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

idNameGO IDScoreTop Affiliating Genes
1myofibrilGO:00300169.9MYH7, TNNI3
2muscle myosin complexGO:00058599.8MYH7, TTN
3sarcomereGO:00300179.3MYH7, TNNI3, TTN
4contractile fiberGO:00432929.3DES, TNNI3
5I bandGO:00316748.9MYPN, TTN
6Z discGO:00300188.1DES, MYH7, MYPN, TTN

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1skeletal muscle contractionGO:00030099.9MYH7, TNNI3
2ventricular cardiac muscle tissue morphogenesisGO:00550109.7MYH7, TNNI3
3adult heart developmentGO:00075129.5MYH7, TTN
4striated muscle contractionGO:00069419.4MYH7, TNNI3, TTN
5sarcomere organizationGO:00452149.3MYPN, TTN
6cardiac muscle contractionGO:00600489.1MYH7, TNNI3, TTN
7muscle contractionGO:00069368.8DES, MYH7, TTN
8muscle filament slidingGO:00300498.3DES, MYH7, TNNI3, TTN

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

idNameGO IDScoreTop Affiliating Genes
1muscle alpha-actinin bindingGO:00513719.4MYPN, TTN
2cytoskeletal protein bindingGO:00080929.3DES, MYPN
3actin bindingGO:00037798.9MYH7, MYPN, TNNI3

Sources for Familial Restrictive Cardiomyopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet