CMD1C
MCID: CRD234
MIFTS: 29

Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction (CMD1C)

Categories: Cardiovascular diseases, Genetic diseases

Aliases & Classifications for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:

Name: Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction 57
Left Ventricular Noncompaction 3 57 74 6 72
Dilated Cardiomyopathy 1c 12 29 6
Cardiomyopathy, Dilated, 1c, with or Without Lvnc 57 29
Cardiomyopathy, Hypertrophic, 24 57 29
Cmd1c 57 74
Cardiomyopathy, Dilated 1c, with or Without Left Ventricular Non-Compaction 74
Dilated Cardiomyopathy 1c with or Without Left Ventricular Noncompaction 12
Cardiomyopathy Dilated with Left Ventricular Noncompaction 74
Dilated Cardiomyopathy with Left Ventricular Noncompaction 6
Cardiomyopathy, Familial Hypertrophic 24 74
Familial Hypertrophic Cardiomyopathy 24 6
Left Ventricular Non-Compaction 3 74
Cardiomyopathy, Dilated, 1c 72
Cardiomyopathy, Dilated 1c 13
Cmdc1 12
Cmh24 74
Lvnc3 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110423
ICD10 33 I42.0
UMLS 72 C1832244 C3152137

Summaries for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

UniProtKB/Swiss-Prot : 74 Cardiomyopathy, dilated 1C, with or without left ventricular non-compaction: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy dilated type 1C is associated with left ventricular non-compaction in some patients. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. Cardiomyopathy, familial hypertrophic 24: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Left ventricular non-compaction 3: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC3 is an autosomal dominant condition.

MalaCards based summary : Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction, is also known as left ventricular noncompaction 3. An important gene associated with Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction is LDB3 (LIM Domain Binding 3). Affiliated tissues include heart and testes, and related phenotypes are sudden cardiac death and left ventricular hypertrophy

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the LDB3 gene on chromosome 10q23.2.

More information from OMIM: 601493 PS115200 PS192600 PS604169

Related Diseases for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

Human phenotypes related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 32 occasional (7.5%) HP:0001645
2 left ventricular hypertrophy 32 occasional (7.5%) HP:0001712
3 ventricular arrhythmia 32 occasional (7.5%) HP:0004308
4 left ventricular noncompaction 32 occasional (7.5%) HP:0030682
5 congestive heart failure 32 HP:0001635
6 dilated cardiomyopathy 32 HP:0001644
7 endocardial fibrosis 32 HP:0006685

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
congestive heart failure
left ventricular hypertrophy (in some patients)
left ventricular noncompaction (in some patients)
left ventricular dilation
sigmoid septal shape (in some patients)
more

Clinical features from OMIM:

601493

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction

Genetic Tests for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

Genetic tests related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1c 29 LDB3
2 Cardiomyopathy, Hypertrophic, 24 29
3 Cardiomyopathy, Dilated, 1c, with or Without Lvnc 29

Anatomical Context for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

MalaCards organs/tissues related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:

41
Heart, Testes

Publications for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

Articles related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:

(show all 26)
# Title Authors PMID Year
1
D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias. 8 71
26419279 2016
2
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. 8 71
17097056 2006
3
Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. 8 71
16427346 2006
4
A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. 8 71
14660611 2004
5
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. 8 71
14662268 2003
6
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 71
25173338 2014
7
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 71
22241583 2012
8
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 71
21810866 2011
9
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 71
19808356 2009
10
Hypertrophic Cardiomyopathy Overview 71
20301725 2008
11
Mutations in sarcomere protein genes in left ventricular noncompaction. 71
18506004 2008
12
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 71
18258667 2008
13
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 71
17611253 2007
14
Dilated Cardiomyopathy Overview 71
20301486 2007
15
Gene mutations in apical hypertrophic cardiomyopathy. 71
16267253 2005
16
Molecular and muscle pathology in a series of caveolinopathy patients. 71
15580566 2005
17
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 71
14672715 2004
18
American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. 71
14607462 2003
19
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 71
12767666 2003
20
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 71
10966831 2000
21
Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. 8
8823300 1996
22
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. 71
8889580 1996
23
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. 71
8079988 1994
24
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. 71
7459150 1980
25
New-onset heart failure due to heart muscle disease in childhood: a prospective study in the United kingdom and Ireland. 38
18086928 2008
26
Cardiac manifestations in oxidative phosphorylation disorders of childhood. 38
17382120 2007

Variations for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:

6 (show all 14)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LDB3 NM_007078.3(LDB3): c.1035C> G (p.Ile345Met) single nucleotide variant Pathogenic rs121908336 10:88466426-88466426 10:86706669-86706669
2 LDB3 NM_007078.3(LDB3): c.617C> T (p.Thr206Ile) single nucleotide variant Pathogenic rs121908337 10:88441488-88441488 10:86681731-86681731
3 VCL NM_014000.2(VCL): c.2862_2864del (p.Leu955del) deletion Conflicting interpretations of pathogenicity rs397517237 10:75871783-75871785 10:74112025-74112027
4 LDB3 NM_007078.3(LDB3): c.566C> T (p.Ser189Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs45487699 10:88441437-88441437 10:86681680-86681680
5 LDB3 NM_007078.3(LDB3): c.1502C> T (p.Ala501Val) single nucleotide variant Uncertain significance rs755362259 10:88476354-88476354 10:86716597-86716597
6 LDB3 NM_001080116.1(LDB3): c.490G> C (p.Asp164His) single nucleotide variant Uncertain significance rs1000020884 10:88446971-88446971 10:86687214-86687214
7 LDB3 NM_001080116.1(LDB3): c.802C> T (p.Arg268Cys) single nucleotide variant Uncertain significance rs121908335 10:88459081-88459081 10:86699324-86699324
8 LDB3 NM_001080116.1(LDB3): c.383A> T (p.Lys128Met) single nucleotide variant Uncertain significance rs121908339 10:88446864-88446864 10:86687107-86687107
9 LDB3 NM_007078.3(LDB3): c.2017G> A (p.Asp673Asn) single nucleotide variant Uncertain significance rs45514002 10:88485932-88485932 10:86726175-86726175
10 RYR2 NM_001035.3(RYR2): c.8209-3A> G single nucleotide variant Uncertain significance rs376788358 1:237823282-237823282 1:237659982-237659982
11 LDB3 NM_007078.3(LDB3): c.1823C> T (p.Pro608Leu) single nucleotide variant Uncertain significance rs145983824 10:88477867-88477867 10:86718110-86718110
12 LDB3 NM_007078.3(LDB3): c.664G> A (p.Ala222Thr) single nucleotide variant Uncertain significance rs139922045 10:88441535-88441535 10:86681778-86681778
13 LDB3 NM_007078.3(LDB3): c.54G> T (p.Gln18His) single nucleotide variant Uncertain significance rs149348427 10:88428502-88428502 10:86668745-86668745
14 LDB3 NM_001080116.1(LDB3): c.349G> A (p.Asp117Asn) single nucleotide variant Benign/Likely benign rs121908338 10:88446830-88446830 10:86687073-86687073

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:

74
# Symbol AA change Variation ID SNP ID
1 LDB3 p.Ser189Leu VAR_024009 rs45487699
2 LDB3 p.Thr206Ile VAR_024010 rs121908337
3 LDB3 p.Ile345Met VAR_024011 rs121908336
4 LDB3 p.Asp673Asn VAR_024013 rs45514002

Expression for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

Search GEO for disease gene expression data for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction.

Pathways for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

GO Terms for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

Sources for Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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40 LOVD
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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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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