MCID: RST002
MIFTS: 52

Restrictive Cardiomyopathy malady

Categories: Genetic diseases (common), Cardiovascular diseases

Aliases & Classifications for Restrictive Cardiomyopathy

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Aliases & Descriptions for Restrictive Cardiomyopathy:

Name: Restrictive Cardiomyopathy 10 12 65
Cardiomyopathy, Familial Restrictive 11 24
Familial Restrictive Cardiomyopathy 10 23
Cardiomyopathy, Restrictive 23 36
Cardiomyopathy Restrictive 47 24
 
Cardiomyopathy, Familial Restrictive, 1 65
Primary Restrictive Cardiomyopathy 10
Cardiomyopathy, Constrictive 10
Rcm 23

Classifications:



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Disease Ontology10 DOID:397
ICD1027 I42.5
MeSH36 D002313
NCIt42 C62798
UMLS65 C0007196, C1861861

Summaries for 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: Restrictive Cardiomyopathy, also known as cardiomyopathy, familial restrictive, is related to gastric cancer and cardiomyopathy, familial restrictive, 3. An important gene associated with Restrictive Cardiomyopathy is TNNI3 (Troponin I3, Cardiac Type), and among its related pathways are Cardiac Progenitor Differentiation and Cardiomyocyte Differentiation through BMP Receptors. Affiliated tissues include heart, lung and breast, and related mouse phenotype muscle.

Wikipedia:68 Restrictive cardiomyopathy (RCM) (a.k.a. Obliterative cardiomyopathy, once known as \"constrictive... more...

Related Diseases for 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

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

(show top 50)    (show all 254)
idRelated DiseaseScoreTop Affiliating Genes
1gastric cancer30.2TNNI3, TNNT2
2cardiomyopathy, familial restrictive, 312.7
3cardiomyopathy, familial restrictive, 112.7
4familial isolated restrictive cardiomyopathy12.6
5cardiomyopathy, familial restrictive, 212.5
6tnnt2-related familial restrictive cardiomyopathy12.4
7childhood restrictive cardiomyopathy12.4
8tnni3-related familial restrictive cardiomyopathy12.4
9cardiomyopathy, dilated, 1kk12.0
10loeffler endocarditis11.7
11coronary thrombosis10.4TNNI3, TNNT2
12transient retinal arterial occlusion10.3TNNI3, TNNT2
13obesity due to prohormone convertase i deficiency10.3MYPN, TNNI3, TNNT2
14familial amyloid cardiomyopathy10.3
15myh7-related familial hypertrophic cardiomyopathy10.2MYH7, TPM1
16scn5a-related brugada syndrome10.2MYH7, TPM1
17breast cancer10.2
18scn5a-related familial atrial fibrillation10.2MYH7, TPM1
19septal myocardial infarction10.2NPPB, TNNT2
20cardiomyopathy, dilated, 1e10.2MYH7, TPM1
21x-linked cleft palate and ankyloglossia10.2MYH7, TTN
22sulfate transporter-related osteochondrodysplasia10.1MYBPC3, MYH7, TPM1
23hepatitis10.1
24leukemia10.1
25prostatitis10.1
26postpartum depression10.1NPPB, TNNI3, TNNT2
27schizophrenia10.1
28obesity10.1
29adenocarcinoma10.1
30thyroiditis10.1
31neuronitis10.1
32endotheliitis10.1
33adams-oliver syndrome 510.1MYH7, NPPB, TNNI3
34al gazali aziz salem syndrome10.1NPPB, TNNT2, TTR
35leopard syndrome10.1MYH7, NPPB
36limb-girdle muscular dystrophy10.0DES, MYH7, TTN
37rheumatic heart disease10.0MYH7, NPPB
38prostate cancer10.0
39hepatocellular carcinoma10.0
40aplastic anemia10.0
41multiple myeloma10.0
42hematopoietic stem cell transplantation10.0
43polycystic ovary syndrome10.0
44hypophosphatemia10.0
45lymphoma10.0
46myeloma10.0
47osteomyelitis10.0
48rickets10.0
49corneal edema10.0
50esophagitis10.0

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



Diseases related to restrictive cardiomyopathy

Symptoms for Restrictive Cardiomyopathy

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Drugs & Therapeutics for Restrictive Cardiomyopathy

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Drugs for Restrictive Cardiomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1diuretics1194

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 Restrictive Cardiomyopathy


Cochrane evidence based reviews: cardiomyopathy, restrictive

Genetic Tests for Restrictive Cardiomyopathy

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Anatomical Context for Restrictive Cardiomyopathy

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MalaCards organs/tissues related to Restrictive Cardiomyopathy:

33
Heart, Lung, Breast, Liver, T cells, Bone, Pituitary

Animal Models for Restrictive Cardiomyopathy or affiliated genes

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MGI Mouse Phenotypes related to Restrictive Cardiomyopathy:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8DES, MYBPC3, MYH7, MYL2, TNNI3, TNNT2

Publications for Restrictive Cardiomyopathy

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Articles related to Restrictive Cardiomyopathy:

(show top 50)    (show all 281)
idTitleAuthorsYear
1
Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia. (27010479)
2016
2
Correction: Stereoscopic Analysis of Optic Nerve Head Parameters in Primary Open Angle Glaucoma: The Glaucoma Stereo Analysis Study. (25849906)
2015
3
Complementary roles of the neuron-enriched endosomal proteins NEEP21 and calcyon in neuronal vesicle trafficking. (25376768)
2015
4
Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases. (26798346)
2015
5
Extradural granulation complicated by chronic suppurative otitis media with cholesteatoma. (24982237)
2014
6
Magnetic resonance assessment of prevalence and correlates of right ventricular abnormalities in isolated left ventricular noncompaction. (24176065)
2014
7
Chronic insertional Achilles tendinopathy: surgical outcomes. (23738280)
2012
8
Effects of transplantation of human umbilical cord blood mononuclear cells, expressing VEGF and FGF2 genes, into the area of spinal cord traumatic lesion]. (23236888)
2012
9
Intermuscular hemangioma of the left ventricle. (22845623)
2012
10
Pathogenesis of rhinitis in rats with experimentally induced hypothyroidism. (23289197)
2012
11
AZFc deletions and spermatogenic failure: a population-based survey of 20,000 Y chromosomes. (23103232)
2012
12
Ionic strength effects on amyloid formation by amylin are a complicated interplay among Debye screening, ion selectivity, and Hofmeister effects. (23016872)
2012
13
Decreased adrenergic tone in acromegaly: evidence from direct recording of muscle sympathetic nerve activity. (22233452)
2012
14
Vitamins e and C alleviate the germ cell loss and oxidative stress in cryptorchidism when administered separately but not when combined in rats. (23213563)
2012
15
MicroRNA-138 modulates DNA damage response by repressing histone H2AX expression. (21693595)
2011
16
Obstruction of St. Jude medical valves in the aortic position: plasma transforming growth factor type beta 1 in patients with pannus overgrowth. (20447046)
2010
17
Ichthyosis in SjAPgren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion. (20049467)
2010
18
Massive pericardial effusion in a child: an unusual presentation of hypothyroidism. (19730106)
2010
19
Atypical presentations of subacute sclerosing panencephalitis in two neurologically handicapped cases. (20135578)
2009
20
Effects of surfactin on proliferation, apoptosis and cytoskeleton in human breast cancer MCF-7 cells]. (20222471)
2009
21
The carboxy-terminal domain of xeroderma pigmentosum complementation group C protein, involved in TFIIH and centrin binding, is highly disordered. (18177054)
2008
22
Transcranial sonography in spinocerebellar ataxia type 2. (18458857)
2008
23
Corticotropin-releasing hormone activates connexin 43 via activator protein-1 transcription factor in human myometrial smooth muscle cells. (17895291)
2007
24
Salt addiction: a different kind of drug addiction. (16790320)
2006
25
Divergent expression and function of glucocorticoid receptor beta in human monocytes and T cells. (16461744)
2006
26
Impact of room air resuscitation on early growth response gene-1 in a neonatal piglet model of cerebral hypoxic ischemia. (16492983)
2006
27
Dermatofibrosarcoma protuberans occurring in the site of prior leishmanization. (17184275)
2006
28
Activation of p21-activated kinase 2 by human immunodeficiency virus type 1 Nef induces merlin phosphorylation. (16282498)
2005
29
Fatty acids and idiopathic calcium nephrolithiasis. (16123560)
2005
30
Comparison of the activities of granulocyte-macrophage colony-stimulating factor and interleukin-8 secretion between two lung epithelial cell lines. (16211140)
2005
31
Case report of unchanged tacrolimus clearance in a hypoxemic pediatric liver transplant recipient with hepatopulmonary syndrome. (15502939)
2004
32
Great auricular causalgia: an unusual complication of excision of the submandibular gland. (14581027)
2003
33
Intracrine cysteinyl leukotriene receptor-mediated signaling of eosinophil vesicular transport-mediated interleukin-4 secretion. (12235216)
2002
34
Acute disseminated encephalomyelitis. (12391446)
2002
35
Signal transduction from bradykinin, angiotensin, adrenergic and muscarinic receptors to effector enzymes, including ADP-ribosyl cyclase. (11258666)
2001
36
A case of retroperitoneal extramedullary plasmacytoma with multiple metastases. (11368939)
2000
37
Membrane-bound paracrystalloid structures in alveolar rhabdomyosarcoma. (11247391)
2000
38
Inhibition of neuronal nitric-oxide synthase by calcium/ calmodulin-dependent protein kinase IIalpha through Ser847 phosphorylation in NG108-15 neuronal cells. (10874031)
2000
39
Is abnormal polymorphonuclear leukocyte function in end-stage renal failure associated with increased incidence of CAPD peritonitis? (9527034)
1998
40
Lipocalin-type prostaglandin D synthase (beta-trace) is a newly recognized type of retinoid transporter. (9188476)
1997
41
Drosophila melanogaster P1 genomic clone DS05563 contains the chaperonin-encoding gene Cctg. (8666276)
1996
42
Migraine with aura: segregation analysis and heritability estimation. (8682675)
1996
43
Effects of induced hyperprolactinemia on in vitro fertilization cycles. (7843446)
1995
44
Prohibitin expression during cellular senescence of human diploid fibroblasts. (8198603)
1994
45
Renal and electrolyte complications of congestive heart failure and effects of therapy with angiotensin-converting enzyme inhibitors. (1558426)
1992
46
Cercarial dermatitis outbreak at a state park--Delaware, 1991. (1557012)
1992
47
Concurrent localized scleroderma and discoid lupus erythematosus. Cutaneous 'mixed' or 'overlap' syndrome. (718182)
1978
48
Gas gangrene of the extremities. (4683702)
1973
49
Articular manifestations of lymphogranuloma venereum. (18148585)
1949
50

Variations for Restrictive Cardiomyopathy

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Clinvar genetic disease variations for 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
7TNNI3NM_000363.4(TNNI3): c.508C> T (p.Arg170Trp)single nucleotide variantLikely pathogenic, Pathogenicrs727503504GRCh37Chr 19, 55665439: 55665439
8TNNI3NM_000363.4(TNNI3): c.522G> C (p.Lys174Asn)single nucleotide variantPathogenicrs730880231GRCh38Chr 19, 55154057: 55154057
9MYH7NM_000257.3(MYH7): c.2513C> T (p.Pro838Leu)single nucleotide variantPathogenicrs397516153GRCh37Chr 14, 23894144: 23894144
10MT-RNR1m.1555A> Gsingle nucleotide variantPathogenicrs267606617GRCh37Chr MT, 1555: 1555

Expression for genes affiliated with Restrictive Cardiomyopathy

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Search GEO for disease gene expression data for Restrictive Cardiomyopathy.

Pathways for genes affiliated with Restrictive Cardiomyopathy

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

(show all 44)
idSuper pathwaysScoreTop Affiliating Genes
19.8MYL2, TNNI3, TNNT2
29.6MYH7, MYL2, NPPB
39.6DES, MYL3, TNNI3, TNNT2
49.0MYH7, MYL2, MYL3, TNNI3, TNNT2, TPM1
58.8ADCY1, ADCY3, ADCY9, TNNI3
68.5DES, MYBPC3, MYL2, MYL3, TNNI3, TNNT2
7
Show member pathways
8.5DES, MYBPC3, MYL2, MYL3, TNNI3, TNNT2
88.5ADCY1, ADCY3, ADCY5, ADCY9
9
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
10
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
11
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
128.5ADCY1, ADCY3, ADCY5, ADCY9
13
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
148.5ADCY1, ADCY3, ADCY5, ADCY9
15
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
16
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
17
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
18
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
19
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
208.5ADCY1, ADCY3, ADCY5, ADCY9
21
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
22
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
23
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
248.5ADCY1, ADCY3, ADCY5, ADCY9
258.5ADCY1, ADCY3, ADCY5, ADCY9
268.5ADCY1, ADCY3, ADCY5, ADCY9
278.5ADCY1, ADCY3, ADCY5, ADCY9
28
Show member pathways
8.5ADCY1, ADCY3, ADCY5, ADCY9
298.5ADCY1, ADCY3, ADCY5, ADCY9
308.5ADCY1, ADCY3, ADCY5, ADCY9
318.5ADCY1, ADCY3, ADCY5, ADCY9
328.3ADCY1, ADCY3, ADCY5, ADCY9, TNNI3
33
Show member pathways
8.3ADCY1, ADCY3, ADCY5, ADCY9, TNNI3
34
Show member pathways
8.2ADCY1, ADCY3, ADCY5, ADCY9, MYL3
35
Show member pathways
8.2ADCY1, ADCY3, ADCY5, ADCY9, MYL2
36
Show member pathways
8.1ADCY1, ADCY3, ADCY5, ADCY9, NPPB
37
Show member pathways
8.1ADCY1, ADCY3, ADCY5, ADCY9, TNNI3, TNNT2
38
Show member pathways
7.7ADCY1, ADCY3, ADCY5, ADCY9, MYH7, MYL2
39
Show member pathways
7.6ADCY1, ADCY3, ADCY5, ADCY9, PKLR
40
Show member pathways
7.6ADCY1, ADCY3, ADCY5, ADCY9, PKLR
41
Show member pathways
7.6ADCY1, ADCY3, ADCY5, ADCY9, PKLR
42
Show member pathways
7.5ADCY1, ADCY3, ADCY5, ADCY9, MYH7, MYL2
43
Show member pathways
6.7ADCY1, ADCY3, ADCY5, ADCY9, MYH7, MYL2
44
Show member pathways
6.3ADCY1, ADCY3, ADCY5, ADCY9, DES, MYBPC3

GO Terms for genes affiliated with Restrictive Cardiomyopathy

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

idNameGO IDScoreTop Affiliating Genes
1myofibrilGO:003001610.4TNNT2, TPM1
2myosin complexGO:001645910.4MYL2, MYL3
3cytosolGO:00058298.3ADCY5, MYBPC3, MYL2, MYL3, TNNT2, TPM1

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1regulation of striated muscle contractionGO:000694210.4MYL2, MYL3
2heart contractionGO:006004710.3MYL2, TNNI3
3striated muscle contractionGO:000694110.3MYH7, TNNI3
4cardiac myofibril assemblyGO:005500310.2MYL2, TTN
5cellular response to forskolinGO:190432210.0ADCY1, ADCY3
6positive regulation of ATPase activityGO:00327819.8MYBPC3, TNNT2, TPM1
7muscle filament slidingGO:00300499.7MYBPC3, MYH7, MYL3, TTN
8response to lithium ionGO:00102269.7ADCY1, PKLR
9cyclic nucleotide biosynthetic processGO:00091909.7ADCY1, ADCY5, ADCY9
10adenylate cyclase-inhibiting G-protein coupled receptor signaling pathwayGO:00071939.0ADCY1, ADCY3, ADCY5, ADCY9
11activation of protein kinase A activityGO:00341999.0ADCY1, ADCY3, ADCY5, ADCY9
12cellular response to glucagon stimulusGO:00713778.9ADCY1, ADCY3, ADCY5, ADCY9
13cAMP-mediated signalingGO:00199338.9ADCY1, ADCY3, ADCY5, ADCY9
14water transportGO:00068338.7ADCY1, ADCY3, ADCY5, ADCY9
15epidermal growth factor receptor signaling pathwayGO:00071738.7ADCY1, ADCY3, ADCY5, ADCY9
16cardiac muscle contractionGO:00600488.6MYL2, MYL3, TNNI3, TNNT2, TPM1, TTN
17activation of phospholipase C activityGO:00072028.6ADCY1, ADCY3, ADCY5, ADCY9
18energy reserve metabolic processGO:00061127.6ADCY1, ADCY3, ADCY5, ADCY9, PKLR

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

idNameGO IDScoreTop Affiliating Genes
1motor activityGO:000377410.0MYH7, MYL3

Sources for 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