CMD1C
MCID: CRD234
MIFTS: 43

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 56
Left Ventricular Noncompaction 3 56 73 6 71
Dilated Cardiomyopathy 1c 12 29 6 15
Cardiomyopathy, Dilated, 1c, with or Without Lvnc 56 29
Cardiomyopathy, Hypertrophic, 24 56 29
Cmd1c 56 73
Cardiomyopathy, Dilated 1c, with or Without Left Ventricular Non-Compaction 73
Dilated Cardiomyopathy 1c with or Without Left Ventricular Noncompaction 12
Cardiomyopathy Dilated with Left Ventricular Noncompaction 73
Dilated Cardiomyopathy with Left Ventricular Noncompaction 6
Cardiomyopathy, Familial Hypertrophic 24 73
Familial Hypertrophic Cardiomyopathy 24 6
Left Ventricular Non-Compaction 3 73
Cardiomyopathy, Dilated, 1c 71
Cardiomyopathy, Dilated 1c 13
Cmdc1 12
Cmh24 73
Lvnc3 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110423
OMIM 56 601493
OMIM Phenotypic Series 56 PS115200 PS192600 PS604169
ICD10 32 I42.0
UMLS 71 C1832244 C3152137

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

UniProtKB/Swiss-Prot : 73 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, also known as left ventricular noncompaction 3, is related to recombinase activating gene 1 deficiency and skin sarcoidosis. An important gene associated with Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction is LDB3 (LIM Domain Binding 3), and among its related pathways/superpathways are Innate Immune System and Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. Affiliated tissues include heart, nk cells 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...

Diseases in the Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction family:

Cardiomyopathy, Dilated, 1aa, with or Without Left Ventricular Noncompaction

Diseases related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 recombinase activating gene 1 deficiency 10.4 S100A12 CD19
2 skin sarcoidosis 10.4 CD83 CD1C
3 reticulohistiocytic granuloma 10.3 CD1C CD163
4 balloon cell malignant melanoma 10.3 CD1C CD163
5 granuloma annulare 10.3 CD1C CD163
6 central nervous system leukemia 10.2 CD33 CD19
7 histiocytic and dendritic cell cancer 10.2 CD1C CD163
8 non-langerhans-cell histiocytosis 10.2 CD1C CD163
9 adult xanthogranuloma 10.2 CD1C CD163
10 leukemia, acute monocytic 10.0 THBD MALAT1 CD33
11 silo filler's disease 10.0 POTEF ACTG1
12 retinitis pigmentosa 74 10.0 POTEF ACTG1
13 localized pulmonary fibrosis 9.9 PSMD5 PSMD4
14 blood platelet disease 9.9 THBD CD33 CD19
15 ophthalmia nodosa 9.8 PSMD5 PSMD4
16 ciliary dyskinesia, primary, 10 9.8 PSMD5 PSMD4
17 transient neonatal neutropenia 9.7 FCGR3B FCGR3A
18 hypotrichosis 1 9.7 PSMD5 PSMD4 CD19
19 chronic nk-cell lymphocytosis 9.7 FCGR3B FCGR3A
20 oxirane allergy 9.7 FCGR3B FCGR3A
21 baraitser-winter syndrome 9.7 POTEF ACTG1
22 cd3zeta deficiency 9.7 FCGR3B FCGR3A
23 autoimmune disease of blood 9.6 FCGR3B FCGR3A CD19
24 ciliary dyskinesia, primary, 9 9.5 PSMD5 PSMD4
25 aggressive nk-cell leukemia 9.5 FCGR3B FCGR3A
26 retinitis pigmentosa 23 9.3 PSMD5 PSMD4 POTEF ACTG1
27 myeloma, multiple 9.1 MALAT1 FCGR3B FCGR3A CD33 CD19
28 leukemia, acute myeloid 8.2 PSMD5 PSMD4 MALAT1 FCGR3B FCGR3A CD33

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction:



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

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

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 sudden cardiac death 31 occasional (7.5%) HP:0001645
2 left ventricular hypertrophy 31 occasional (7.5%) HP:0001712
3 ventricular arrhythmia 31 occasional (7.5%) HP:0004308
4 left ventricular noncompaction 31 occasional (7.5%) HP:0030682
5 congestive heart failure 31 HP:0001635
6 dilated cardiomyopathy 31 HP:0001644
7 endocardial fibrosis 31 HP:0006685

Symptoms via clinical synopsis from OMIM:

56
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, Dilated, 1c, with or Without Lvnc 29
3 Cardiomyopathy, Hypertrophic, 24 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:

40
Heart, Nk Cells, Testes, Skin, Myeloid, Monocytes

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. 56 6
26419279 2016
2
Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. 56 6
17097056 2006
3
Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity. 56 6
16427346 2006
4
A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. 56 6
14660611 2004
5
Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. 56 6
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). 6
25173338 2014
7
Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss. 6
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). 6
21810866 2011
9
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. 6
19808356 2009
10
Hypertrophic Cardiomyopathy Overview 6
20301725 2008
11
Mutations in sarcomere protein genes in left ventricular noncompaction. 6
18506004 2008
12
Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy. 6
18258667 2008
13
Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects. 6
17611253 2007
14
Dilated Cardiomyopathy Overview 6
20301486 2007
15
Gene mutations in apical hypertrophic cardiomyopathy. 6
16267253 2005
16
Molecular and muscle pathology in a series of caveolinopathy patients. 6
15580566 2005
17
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 6
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. 6
14607462 2003
19
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. 6
12767666 2003
20
Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. 6
10966831 2000
21
Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. 56
8823300 1996
22
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. 6
8889580 1996
23
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. 6
8079988 1994
24
Report of the WHO/ISFC task force on the definition and classification of cardiomyopathies. 6
7459150 1980
25
New-onset heart failure due to heart muscle disease in childhood: a prospective study in the United kingdom and Ireland. 61
18086928 2008
26
Cardiac manifestations in oxidative phosphorylation disorders of childhood. 61
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LDB3 NM_007078.3(LDB3):c.1035C>G (p.Ile345Met)SNV Pathogenic 4730 rs121908336 10:88466426-88466426 10:86706669-86706669
2 LDB3 NM_007078.3(LDB3):c.617C>T (p.Thr206Ile)SNV Pathogenic 4732 rs121908337 10:88441488-88441488 10:86681731-86681731
3 LDB3 NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)SNV Conflicting interpretations of pathogenicity 4731 rs45487699 10:88441437-88441437 10:86681680-86681680
4 LDB3 NM_007078.3(LDB3):c.664G>A (p.Ala222Thr)SNV Conflicting interpretations of pathogenicity 45551 rs139922045 10:88441535-88441535 10:86681778-86681778
5 VCL NM_003373.4(VCL):c.2746-2159_2746-2157deldeletion Conflicting interpretations of pathogenicity 45602 rs397517237 10:75871782-75871784 10:74112024-74112026
6 RYR2 NM_001035.3(RYR2):c.8209-3A>GSNV Conflicting interpretations of pathogenicity 43829 rs376788358 1:237823282-237823282 1:237659982-237659982
7 LDB3 NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu)SNV Uncertain significance 45533 rs145983824 10:88477867-88477867 10:86718110-86718110
8 LDB3 NM_007078.3(LDB3):c.1502C>T (p.Ala501Val)SNV Uncertain significance 426972 rs755362259 10:88476354-88476354 10:86716597-86716597
9 LDB3 NM_001080116.1(LDB3):c.490G>C (p.Asp164His)SNV Uncertain significance 532931 rs1000020884 10:88446971-88446971 10:86687214-86687214
10 LDB3 NM_007078.3(LDB3):c.54G>T (p.Gln18His)SNV Uncertain significance 201856 rs149348427 10:88428502-88428502 10:86668745-86668745
11 LDB3 NM_001080116.1(LDB3):c.802C>T (p.Arg268Cys)SNV Uncertain significance 4729 rs121908335 10:88459081-88459081 10:86699324-86699324
12 LDB3 NM_001080116.1(LDB3):c.383A>T (p.Lys128Met)SNV Uncertain significance 4734 rs121908339 10:88446864-88446864 10:86687107-86687107
13 LDB3 NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn)SNV Uncertain significance 4735 rs45514002 10:88485932-88485932 10:86726175-86726175
14 LDB3 NM_001080116.1(LDB3):c.349G>A (p.Asp117Asn)SNV Benign/Likely benign 4733 rs121908338 10:88446830-88446830 10:86687073-86687073

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

73
# 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...

Cellular components related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.24 THBD SDHA S100A12 IL7R FCGR3B FCGR3A
2 integral component of plasma membrane GO:0005887 9.8 THBD CD83 CD6 CD33 CD1C CD19
3 plasma membrane GO:0005886 9.8 THBD S100A12 IL7R FCGR3B FCGR3A CLEC4C
4 proteasome accessory complex GO:0022624 9.32 PSMD5 PSMD4
5 external side of plasma membrane GO:0009897 9.23 IL7R FCGR3A CD83 CD6 CD33 CD1C
6 proteasome regulatory particle, base subcomplex GO:0008540 9.16 PSMD5 PSMD4

Biological processes related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adaptive immune response GO:0002250 9.56 CLEC4C CD6 CD1C CD19
2 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.33 PSMD5 PSMD4 CLEC4C
3 proteasome assembly GO:0043248 8.96 PSMD5 PSMD4
4 regulation of immune response GO:0050776 8.92 FCGR3A CD33 CD1C CD19

Molecular functions related to Cardiomyopathy, Dilated, 1c, with or Without Left Ventricular Noncompaction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 IgG binding GO:0019864 8.62 FCGR3B FCGR3A

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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