CMD1C
MCID: CRD234
MIFTS: 22

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 75 6 73
Dilated Cardiomyopathy 1c 12 29 6
Cmd1c 57 75
Cardiomyopathy, Dilated 1c, with or Without Left Ventricular Non-Compaction 75
Dilated Cardiomyopathy 1c with or Without Left Ventricular Noncompaction 12
Cardiomyopathy Dilated with Left Ventricular Noncompaction 75
Dilated Cardiomyopathy with Left Ventricular Noncompaction 6
Cardiomyopathy, Dilated, Type 1c, with or Without Lvnc 40
Cardiomyopathy, Dilated, 1c, with or Without Lvnc 57
Cardiomyopathy, Familial Hypertrophic 24 75
Familial Hypertrophic Cardiomyopathy 24 6
Left Ventricular Non-Compaction 3 75
Cardiomyopathy, Hypertrophic, 24 57
Cardiomyopathy, Dilated, 1c 73
Cardiomyopathy, Dilated 1c 13
Cmdc1 12
Cmh24 75
Lvnc3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 related phenotypes are sudden cardiac death and congestive heart failure

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

Description from OMIM: 601493

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

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

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

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 congestive heart failure 32 HP:0001635
3 dilated cardiomyopathy 32 HP:0001644
4 left ventricular hypertrophy 32 occasional (7.5%) HP:0001712
5 ventricular arrhythmia 32 occasional (7.5%) HP:0004308
6 endocardial fibrosis 32 HP:0006685
7 left ventricular noncompaction 32 occasional (7.5%) HP:0030682

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

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

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

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

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

75
# 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

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

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 LDB3 NM_007078.2(LDB3): c.1035C> G (p.Ile345Met) single nucleotide variant Pathogenic rs121908336 GRCh37 Chromosome 10, 88466426: 88466426
2 LDB3 NM_007078.2(LDB3): c.1035C> G (p.Ile345Met) single nucleotide variant Pathogenic rs121908336 GRCh38 Chromosome 10, 86706669: 86706669
3 LDB3 NM_001080116.1(LDB3): c.321+1523C> T single nucleotide variant Conflicting interpretations of pathogenicity rs45487699 GRCh37 Chromosome 10, 88441437: 88441437
4 LDB3 NM_001080116.1(LDB3): c.321+1523C> T single nucleotide variant Conflicting interpretations of pathogenicity rs45487699 GRCh38 Chromosome 10, 86681680: 86681680
5 LDB3 NM_007078.2(LDB3): c.617C> T (p.Thr206Ile) single nucleotide variant Pathogenic rs121908337 GRCh37 Chromosome 10, 88441488: 88441488
6 LDB3 NM_007078.2(LDB3): c.617C> T (p.Thr206Ile) single nucleotide variant Pathogenic rs121908337 GRCh38 Chromosome 10, 86681731: 86681731
7 LDB3 NM_001080116.1(LDB3): c.349G> A (p.Asp117Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs121908338 GRCh37 Chromosome 10, 88446830: 88446830
8 LDB3 NM_001080116.1(LDB3): c.349G> A (p.Asp117Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs121908338 GRCh38 Chromosome 10, 86687073: 86687073
9 LDB3 NM_001080116.1(LDB3): c.383A> T (p.Lys128Met) single nucleotide variant Pathogenic rs121908339 GRCh37 Chromosome 10, 88446864: 88446864
10 LDB3 NM_001080116.1(LDB3): c.383A> T (p.Lys128Met) single nucleotide variant Pathogenic rs121908339 GRCh38 Chromosome 10, 86687107: 86687107
11 LDB3 NM_007078.2(LDB3): c.2017G> A (p.Asp673Asn) single nucleotide variant Uncertain significance rs45514002 GRCh37 Chromosome 10, 88485932: 88485932
12 LDB3 NM_007078.2(LDB3): c.2017G> A (p.Asp673Asn) single nucleotide variant Uncertain significance rs45514002 GRCh38 Chromosome 10, 86726175: 86726175
13 RYR2 NM_001035.2(RYR2): c.8209-3A> G single nucleotide variant Uncertain significance rs376788358 GRCh37 Chromosome 1, 237823282: 237823282
14 RYR2 NM_001035.2(RYR2): c.8209-3A> G single nucleotide variant Uncertain significance rs376788358 GRCh38 Chromosome 1, 237659982: 237659982
15 LDB3 NM_007078.2(LDB3): c.1823C> T (p.Pro608Leu) single nucleotide variant Uncertain significance rs145983824 GRCh37 Chromosome 10, 88477867: 88477867
16 LDB3 NM_007078.2(LDB3): c.1823C> T (p.Pro608Leu) single nucleotide variant Uncertain significance rs145983824 GRCh38 Chromosome 10, 86718110: 86718110
17 VCL NM_014000.2(VCL): c.2862_2864delGTT (p.Leu955del) deletion Conflicting interpretations of pathogenicity rs397517237 GRCh37 Chromosome 10, 75871783: 75871785
18 VCL NM_014000.2(VCL): c.2862_2864delGTT (p.Leu955del) deletion Conflicting interpretations of pathogenicity rs397517237 GRCh38 Chromosome 10, 74112025: 74112027
19 VCL NM_014000.2(VCL): c.2862_2864delGTT (p.Leu955del) deletion Conflicting interpretations of pathogenicity rs397517237 NCBI36 Chromosome 10, 75541789: 75541791

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...

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17 ExPASy
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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