Myh7-Related Dilated Cardiomyopathy malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Myh7-Related Dilated Cardiomyopathy

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Aliases & Descriptions for Myh7-Related Dilated Cardiomyopathy:

Name: Myh7-Related Dilated Cardiomyopathy 22
Cardiomyopathy, Dilated 1y 24
Dilated Cardiomyopathy 1s 22
Campomelic Dysplasia 65
Cmd1s 22


Summaries for Myh7-Related Dilated Cardiomyopathy

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MalaCards based summary: Myh7-Related Dilated Cardiomyopathy, also known as cardiomyopathy, dilated 1y, is related to cardiomyopathy, dilated, 1e and campomelic dysplasia, and has symptoms including respiratory distress An important gene associated with Myh7-Related Dilated Cardiomyopathy is MYH7 (Myosin, Heavy Chain 7, Cardiac Muscle, Beta), and among its related pathways are Hypertrophic cardiomyopathy (HCM) and Cardiac muscle contraction. Affiliated tissues include spinal cord.

Related Diseases for Myh7-Related Dilated Cardiomyopathy

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Diseases in the Cardiomyopathy family:

Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1a
Cardiomyopathy, Dilated, 1v Cardiomyopathy, Dilated, 1d
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1i Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 1z Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1gg Cardiomyopathy, Dilated, 1l
Cardiomyopathy, Dilated, 1k Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1p Cardiomyopathy, Dilated, 1j
Cardiomyopathy, Dilated, 2b Cardiomyopathy, Dilated, 1q
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1kk
Cardiomyopathy, Dilated, 1w Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1o
Cardiomyopathy, Dilated, 1t Cardiomyopathy, Dilated, 1ee
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1r
Cardiomyopathy, Dilated, 1bb Cardiomyopathy, Dilated, 2a
Cardiomyopathy, Dilated, 1ff Cardiomyopathy, Dilated, 3b
Dilated Cardiomyopathy Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Cryab-Related Dilated Cardiomyopathy
Mypn-Related Cardiomyopathy Abcc9-Related Dilated Cardiomyopathy
Actc1-Related Dilated Cardiomyopathy Actn2-Related Dilated Cardiomyopathy
Ankrd1-Related Dilated Cardiomyopathy Bag3-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Des-Related Dilated Cardiomyopathy
Dmd-Related Dilated Cardiomyopathy Dsg2-Related Dilated Cardiomyopathy
Eya4-Related Dilated Cardiomyopathy Fktn-Related Dilated Cardiomyopathy
Gatad1-Related Dilated Cardiomyopathy Lama4-Related Dilated Cardiomyopathy
Ldb3-Related Dilated Cardiomyopathy Mybpc3-Related Dilated Cardiomyopathy
Myh6-Related Dilated Cardiomyopathy myh7-related dilated cardiomyopathy
Nexn-Related Dilated Cardiomyopathy Pln-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Sgcd-Related Dilated Cardiomyopathy Taz-Related Dilated Cardiomyopathy
Tcap-Related Dilated Cardiomyopathy Tmpo-Related Dilated Cardiomyopathy
Tnnc1-Related Dilated Cardiomyopathy Tnni3-Related Dilated Cardiomyopathy
Tnnt2-Related Dilated Cardiomyopathy Tpm1-Related Dilated Cardiomyopathy
Ttn-Related Dilated Cardiomyopathy Vcl-Related Dilated Cardiomyopathy

Diseases related to Myh7-Related Dilated Cardiomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1cardiomyopathy, dilated, 1e30.2MYH7, SCN5A, TPM1
2campomelic dysplasia11.1
3cardiomyopathy, dilated, 1a10.0
4cylindrical spirals myopathy9.8MYH7, TPM1
5specific developmental disorder9.7MYH7, TPM1
6conjunctival concretion9.7MYH7, TPM1
7extrinsic cardiomyopathy9.6MYH7, TPM1
8myh7-related familial hypertrophic cardiomyopathy9.2MYH7, SCN5A, TPM1
9scn5a-related brugada syndrome9.2MYH7, SCN5A, TPM1
10scn5a-related familial atrial fibrillation9.2MYH7, SCN5A, TPM1
11spinal canal and spinal cord meningioma9.2MYH7, SCN5A
12transverse vaginal septum9.2MYH7, SCN5A, TPM1
13sulfate transporter-related osteochondrodysplasia9.1MYH7, SCN5A, TPM1
14spoan syndrome9.1MYH7, SCN5A, TPM1
15drug-induced hepatitis9.1MYH7, SCN5A, TPM1
16cardiomyopathy with or without skeletal myopathy9.1MYH7, SCN5A, TPM1

Graphical network of diseases related to Myh7-Related Dilated Cardiomyopathy:

Diseases related to myh7-related dilated cardiomyopathy

Symptoms for Myh7-Related Dilated Cardiomyopathy

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UMLS symptoms related to Myh7-Related Dilated Cardiomyopathy:

respiratory distress

Drugs & Therapeutics for Myh7-Related Dilated Cardiomyopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Myh7-Related Dilated Cardiomyopathy

Genetic Tests for Myh7-Related Dilated Cardiomyopathy

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Genetic tests related to Myh7-Related Dilated Cardiomyopathy:

id Genetic test Affiliating Genes
1 Myh7-Related Dilated Cardiomyopathy22 MYH7

Anatomical Context for Myh7-Related Dilated Cardiomyopathy

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MalaCards organs/tissues related to Myh7-Related Dilated Cardiomyopathy:

Spinal cord

Animal Models for Myh7-Related Dilated Cardiomyopathy or affiliated genes

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Publications for Myh7-Related Dilated Cardiomyopathy

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Variations for Myh7-Related Dilated Cardiomyopathy

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Clinvar genetic disease variations for Myh7-Related Dilated Cardiomyopathy:

id Gene Variation Type Significance SNP ID Assembly Location
1MYH7NM_000257.3(MYH7): c.5378_5380delTGC (p.Leu1793del)deletionPathogenicrs587779396GRCh37Chr 14, 23884383: 23884385
2SCN5ANM_198056.2(SCN5A): c.2550_2551dupGT (p.Phe851Cysfs)duplicationPathogenicrs397514450GRCh37Chr 3, 38627418: 38627419
3TPM1NM_001018005.1(TPM1): c.688G> A (p.Asp230Asn)single nucleotide variantPathogenicrs199476317GRCh37Chr 15, 63354462: 63354462
4SCN5ANM_198056.2(SCN5A): c.665G> A (p.Arg222Gln)single nucleotide variantLikely pathogenic, Pathogenicrs45546039GRCh37Chr 3, 38655272: 38655272
5MYH7NM_000257.3(MYH7): c.3578G> A (p.Arg1193His)single nucleotide variantLikely pathogenic, Pathogenicrs397516187GRCh37Chr 14, 23889202: 23889202
6MYH7NM_000257.3(MYH7): c.5740G> A (p.Glu1914Lys)single nucleotide variantPathogenicrs397516254GRCh37Chr 14, 23883018: 23883018
7SCN5ANM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys)single nucleotide variantLikely pathogenic, Pathogenicrs199473119GRCh37Chr 3, 38645526: 38645526
8SCN5ANM_198056.2(SCN5A): c.3823G> A (p.Asp1275Asn)single nucleotide variantPathogenicrs137854618GRCh37Chr 3, 38607917: 38607917

Expression for genes affiliated with Myh7-Related Dilated Cardiomyopathy

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Search GEO for disease gene expression data for Myh7-Related Dilated Cardiomyopathy.

GO Terms for genes affiliated with Myh7-Related Dilated Cardiomyopathy

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Sources for Myh7-Related Dilated Cardiomyopathy

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28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet