CMD1D
MCID: CRD097
MIFTS: 40

Cardiomyopathy, Dilated, 1d (CMD1D) malady

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Ear diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1d

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Aliases & Descriptions for Cardiomyopathy, Dilated, 1d:

Name: Cardiomyopathy, Dilated, 1d 52 12 68
Left Ventricular Noncompaction 6 52 24 27
Dilated Cardiomyopathy 1d 11 13
 
Cmd1d 11 70
Cardiomyopathy, Dilated 1d 70
Lvnc6 24

Characteristics:

HPO:

64
cardiomyopathy, dilated, 1d:
Inheritance: autosomal dominant inheritance
Mortality/Aging: sudden death

Classifications:



External Ids:

OMIM52 601494
Disease Ontology11 DOID:0110426
ICD1030 I42.0
MedGen37 C1832243
MeSH39 D002311

Summaries for Cardiomyopathy, Dilated, 1d

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UniProtKB/Swiss-Prot:70 Cardiomyopathy, dilated 1D: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary: Cardiomyopathy, Dilated, 1d, also known as left ventricular noncompaction 6, is related to tnnt2-related dilated cardiomyopathy and cardiomyopathy, dilated, 1a, and has symptoms including congestive heart failure, dilated cardiomyopathy and left ventricular hypertrophy. An important gene associated with Cardiomyopathy, Dilated, 1d is TNNT2 (Troponin T2, Cardiac Type), and among its related pathways are ECM-receptor interaction and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include heart, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and digestive/alimentary.

Disease Ontology:11 A dilated cardiomyopathy that has material basis in mutation in the TNNT2 gene on chromosome 1q32.

Description from OMIM:52 601494

Related Diseases for Cardiomyopathy, Dilated, 1d

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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 Dmd-Related Dilated Cardiomyopathy
Dilated Cardiomyopathy 1c Dilated Cardiomyopathy 1aa
Dilated Cardiomyopathy 1b Lmna-Related Dilated Cardiomyopathy
Cardiomyopathy Due to Anthracyclines Mypn-Related Cardiomyopathy
Abcc9-Related Dilated Cardiomyopathy Actc1-Related Dilated Cardiomyopathy
Actn2-Related Dilated Cardiomyopathy Ankrd1-Related Dilated Cardiomyopathy
Bag3-Related Dilated Cardiomyopathy Cryab-Related Dilated Cardiomyopathy
Csrp3-Related Dilated Cardiomyopathy Des-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 Prdm16-Related Dilated Cardiomyopathy
Psen1-Related Dilated Cardiomyopathy Psen2-Related Dilated Cardiomyopathy
Rbm20-Related Dilated Cardiomyopathy Scn5a-Related Dilated Cardiomyopathy
Sdha-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 Cardiomyopathy, Dilated, 1d via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1tnnt2-related dilated cardiomyopathy11.0
2cardiomyopathy, dilated, 1a10.9
3left ventricular noncompaction 1, with or without congenital heart defects10.9
4cubitus valgus with mental retardation and unusual facies10.1DMD, LAMA2
5pancreatic agenesis 110.1DAG1, DMD
6glomerulonephritis10.1DMD, TNNT2
7sdhc-related paraganglioma and gastric stromal sarcoma10.1DAG1, DMD
8cone-rod dystrophy, prph2-related10.1DAG1, DMD
9nonsyndromic hearing loss and deafness, mitochondrial10.1DMD, LDB3
10myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related10.0DMD, LDB3
11primary cutaneous gamma/delta-positive t-cell lymphoma10.0DMD, LDB3, TNNT2
12sudden infant death with dysgenesis of the testes syndrome10.0DAG1, DMD, LAMA2
13dermatofibrosarcoma protuberans10.0DAG1, DMD, LAMA2
14immunodeficiency 34, mycobacteriosis, x-linked10.0DAG1, DMD, TNNT2
15thrombocytopenia, x-linked10.0DMD, LAMA2
16cardiomyopathy, dilated, 1x10.0DAG1, DMD, LAMA2
17glycogen storage disease 0, muscle10.0DAG1, DMD, LAMA2
18myasthenia gravis, limb-girdle10.0DAG1, DMD, LAMA2
19muscular dystrophy, limb-girdle, type 1b10.0DAG1, DMD, LAMA2
20cerebral angioma10.0DAG1, DMD, LAMA2
21autosomal dominant nonsyndromic deafness9.9DAG1, DMD, LAMA2
22central corneal ulcer9.9DAG1, DMD, LAMA2
23hiatus hernia9.9DMD, HMOX2
24vestibulocochlear nerve disease9.9DMD, HMOX2
25muscular dystrophy, rigid spine, 19.9DMD, LAMA2
26autosomal recessive nonsyndromic deafness 479.8DAG1, DMD, LAMA2, LDB3
27cardiomyopathy, dilated, 1aa, with or without lvnc9.8DAG1, DMD, LAMA2, LDB3
28lipodystrophy, familial partial, 29.8DAG1, DMD, LAMA2, LDB3
29parametrium malignant neoplasm9.8DMD, LAMA2, MMP9
30cdkl5-related angelman-like syndrome9.7DAG1, DMD, LAMA2, LDB3, TNNT2
31emery-dreifuss muscular dystrophy, dominant type9.7DAG1, DMD, LAMA2, LDB3, TNNT2
32cardiomyopathy, familial restrictive, 38.6DAG1, DMD, HMOX2, KCNH1, LAMA2, LAMB3

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1d:



Diseases related to cardiomyopathy, dilated, 1d

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1d

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Symptoms by clinical synopsis from OMIM:

601494

Clinical features from OMIM:

601494

Human phenotypes related to Cardiomyopathy, Dilated, 1d:

 64
id Description HPO Frequency HPO Source Accession
1 congestive heart failure64 HP:0001635
2 dilated cardiomyopathy64 HP:0001644
3 left ventricular hypertrophy64 HP:0001712
4 atrial fibrillation64 HP:0005110
5 left ventricular noncompaction64 HP:0030682

GenomeRNAi Phenotypes related to Cardiomyopathy, Dilated, 1d according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.8HMOX2, LAMB3, PPP2R5A

MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1d according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.7DMD, HMOX2, LAMB3, LDB3, MMP9
2MP:00053867.8DAG1, DMD, HMOX2, KCNH1, LAMA2, LDB3
3MP:00053887.8DMD, HMOX2, LAMB3, LDB3, MMP9
4MP:00053697.7DAG1, DMD, HMOX2, LAMA2, LDB3, MMP9

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1d

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cardiomyopathy, Dilated, 1d

Genetic Tests for Cardiomyopathy, Dilated, 1d

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Genetic tests related to Cardiomyopathy, Dilated, 1d:

id Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 627 24 TNNT2

Anatomical Context for Cardiomyopathy, Dilated, 1d

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MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1d:

36
Heart

Publications for Cardiomyopathy, Dilated, 1d

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Variations for Cardiomyopathy, Dilated, 1d

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UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1d:

70
id Symbol AA change Variation ID SNP ID
1TNNT2p.Arg151TrpVAR_016198rs74315379
2TNNT2p.Arg141TrpVAR_043983rs74315380
3TNNT2p.Arg215LeuVAR_043984rs121964860

Clinvar genetic disease variations for Cardiomyopathy, Dilated, 1d:

5
id Gene Variation Type Significance SNP ID Assembly Location
1TNNT2NM_ 001001430.2(TNNT2): c.236T> A (p.Ile79Asn)SNVPathogenic/ Likely pathogenicrs121964855GRCh37Chr 1, 201334766: 201334766
2TNNT2NM_ 001001430.2(TNNT2): c.421C> T (p.Arg141Trp)SNVPathogenic/ Likely pathogenicrs74315379GRCh37Chr 1, 201333464: 201333464
3TNNT2NM_ 000364.3(TNNT2): c.635G> T (p.Arg212Leu)SNVPathogenicrs121964860GRCh37Chr 1, 201331116: 201331116
4TNNT2NM_ 000364.3(TNNT2): c.829G> A (p.Asp277Asn)SNVPathogenicrs121964861GRCh37Chr 1, 201328764: 201328764
5TNNT2NM_ 000364.3(TNNT2): c.316G> A (p.Glu106Lys)SNVPathogenicrs869312881GRCh37Chr 1, 201334414: 201334414
6TNNT2NM_ 001001430.2(TNNT2): c.517C> T (p.Arg173Trp)SNVPathogenic/ Likely pathogenicrs727503512GRCh38Chr 1, 201363349: 201363349
7TNNT2NM_ 001001430.2(TNNT2): c.518G> A (p.Arg173Gln)SNVLikely pathogenicrs397516471GRCh37Chr 1, 201332476: 201332476
8TNNT2NM_ 001001430.2(TNNT2): c.629_ 631delAGA (p.Lys210del)deletionPathogenicrs45578238GRCh37Chr 1, 201331099: 201331101

Expression for genes affiliated with Cardiomyopathy, Dilated, 1d

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Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1d.

Pathways for genes affiliated with Cardiomyopathy, Dilated, 1d

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GO Terms for genes affiliated with Cardiomyopathy, Dilated, 1d

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Cellular components related to Cardiomyopathy, Dilated, 1d according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1myofibrilGO:003001610.3DMD, TNNT2
2costamereGO:004303410.2DAG1, DMD
3dystrophin-associated glycoprotein complexGO:001601010.1DAG1, DMD
4basement membraneGO:000560410.0DAG1, LAMA2, LAMB3
5postsynaptic membraneGO:00452119.7DAG1, DMD, KCNH1
6sarcolemmaGO:00423839.7DAG1, DMD, LAMA2
7Z discGO:00300189.0DMD, LDB3, PPP2R5A

Biological processes related to Cardiomyopathy, Dilated, 1d according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cardiac muscle contractionGO:006004810.3DMD, TNNT2
2muscle filament slidingGO:003004910.1DMD, TNNT2
3Schwann cell differentiationGO:001403710.0DAG1, LAMA2
4endodermal cell differentiationGO:00359879.9LAMB3, MMP9
5response to denervation involved in regulation of muscle adaptationGO:00148949.9DAG1, DMD
6skeletal muscle tissue regenerationGO:00434039.5DAG1, DMD
7extracellular matrix organizationGO:00301989.0DAG1, LAMA2, LAMB3, MMP9

Molecular functions related to Cardiomyopathy, Dilated, 1d according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dystroglycan bindingGO:000216210.0DAG1, DMD
2structural constituent of muscleGO:00083079.8DAG1, DMD
3vinculin bindingGO:00171669.5DAG1, DMD

Sources for Cardiomyopathy, Dilated, 1d

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet