CMD1CC
MCID: CRD115
MIFTS: 18

Cardiomyopathy, Dilated, 1cc (CMD1CC)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1cc

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1cc:

Name: Cardiomyopathy, Dilated, 1cc 57 13 73
Dilated Cardiomyopathy 1cc 12 29 6
Cmd1cc 57 12 75
Cardiomyopathy, Dilated, Type 1cc 40
Cardiomyopathy, Dilated 1cc 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
average age of onset 50.8 +/- 9.0 years
some patients require cardiac transplantation


HPO:

32
cardiomyopathy, dilated, 1cc:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613122
Disease Ontology 12 DOID:0110424
ICD10 33 I42.0
MedGen 42 C2751084
MeSH 44 D002311
SNOMED-CT via HPO 69 263681008 195021004 399020009
UMLS 73 C2751084

Summaries for Cardiomyopathy, Dilated, 1cc

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, dilated 1CC: 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, 1cc, is also known as dilated cardiomyopathy 1cc. An important gene associated with Cardiomyopathy, Dilated, 1cc is NEXN (Nexilin F-Actin Binding Protein). Affiliated tissues include heart, and related phenotype is dilated cardiomyopathy.

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the NEXN gene on chromosome 1p31.1.

Description from OMIM: 613122

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1cc

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomyopathy, dilated
decreased left ventricular ejection fraction
decreased left ventricular end diastolic diameter


Clinical features from OMIM:

613122

Human phenotypes related to Cardiomyopathy, Dilated, 1cc:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1cc

Search Clinical Trials , NIH Clinical Center for Cardiomyopathy, Dilated, 1cc

Genetic Tests for Cardiomyopathy, Dilated, 1cc

Genetic tests related to Cardiomyopathy, Dilated, 1cc:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1cc 29 NEXN

Anatomical Context for Cardiomyopathy, Dilated, 1cc

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1cc

Variations for Cardiomyopathy, Dilated, 1cc

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

75
# Symbol AA change Variation ID SNP ID
1 NEXN p.Pro611Thr VAR_063009 rs137853198
2 NEXN p.Tyr652Cys VAR_063011 rs137853197

ClinVar genetic disease variations for Cardiomyopathy, Dilated, 1cc:

6 (show top 50) (show all 139)
# Gene Variation Type Significance SNP ID Assembly Location
1 NEXN NEXN, 3-BP DEL, 1948GGA deletion Pathogenic
2 NEXN NM_144573.3(NEXN): c.1955A> G (p.Tyr652Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853197 GRCh37 Chromosome 1, 78408441: 78408441
3 NEXN NM_144573.3(NEXN): c.1955A> G (p.Tyr652Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853197 GRCh38 Chromosome 1, 77942756: 77942756
4 NEXN NM_144573.3(NEXN): c.1831C> A (p.Pro611Thr) single nucleotide variant Pathogenic rs137853198 GRCh37 Chromosome 1, 78408317: 78408317
5 NEXN NM_144573.3(NEXN): c.1831C> A (p.Pro611Thr) single nucleotide variant Pathogenic rs137853198 GRCh38 Chromosome 1, 77942632: 77942632
6 NEXN NM_144573.3(NEXN): c.835C> T (p.Arg279Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146245480 GRCh37 Chromosome 1, 78392548: 78392548
7 NEXN NM_144573.3(NEXN): c.835C> T (p.Arg279Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146245480 GRCh38 Chromosome 1, 77926863: 77926863
8 NEXN NM_144573.3(NEXN): c.1053+1G> A single nucleotide variant Uncertain significance rs397517843 GRCh37 Chromosome 1, 78395190: 78395190
9 NEXN NM_144573.3(NEXN): c.1053+1G> A single nucleotide variant Uncertain significance rs397517843 GRCh38 Chromosome 1, 77929505: 77929505
10 NEXN NM_144573.3(NEXN): c.1112C> T (p.Pro371Leu) single nucleotide variant Uncertain significance rs200067011 GRCh37 Chromosome 1, 78399025: 78399025
11 NEXN NM_144573.3(NEXN): c.1112C> T (p.Pro371Leu) single nucleotide variant Uncertain significance rs200067011 GRCh38 Chromosome 1, 77933340: 77933340
12 NEXN NM_144573.3(NEXN): c.1368A> C (p.Gly456=) single nucleotide variant Likely benign rs397517845 GRCh37 Chromosome 1, 78401624: 78401624
13 NEXN NM_144573.3(NEXN): c.1368A> C (p.Gly456=) single nucleotide variant Likely benign rs397517845 GRCh38 Chromosome 1, 77935939: 77935939
14 NEXN NM_144573.3(NEXN): c.1407_1409delAGA (p.Glu470del) deletion Uncertain significance rs397517846 GRCh37 Chromosome 1, 78401663: 78401665
15 NEXN NM_144573.3(NEXN): c.1407_1409delAGA (p.Glu470del) deletion Uncertain significance rs397517846 GRCh38 Chromosome 1, 77935978: 77935980
16 NEXN NM_144573.3(NEXN): c.1677_1682delGGAGGA (p.Glu561_Glu562del) deletion Conflicting interpretations of pathogenicity rs397517848 GRCh37 Chromosome 1, 78408163: 78408168
17 NEXN NM_144573.3(NEXN): c.1677_1682delGGAGGA (p.Glu561_Glu562del) deletion Conflicting interpretations of pathogenicity rs397517848 GRCh38 Chromosome 1, 77942478: 77942483
18 NEXN NM_144573.3(NEXN): c.1788T> G (p.Ser596Arg) single nucleotide variant Uncertain significance rs199738750 GRCh37 Chromosome 1, 78408274: 78408274
19 NEXN NM_144573.3(NEXN): c.1788T> G (p.Ser596Arg) single nucleotide variant Uncertain significance rs199738750 GRCh38 Chromosome 1, 77942589: 77942589
20 NEXN NM_144573.3(NEXN): c.1949_1951delGAG (p.Gly650del) deletion Conflicting interpretations of pathogenicity rs397517853 GRCh37 Chromosome 1, 78408435: 78408437
21 NEXN NM_144573.3(NEXN): c.1949_1951delGAG (p.Gly650del) deletion Conflicting interpretations of pathogenicity rs397517853 GRCh38 Chromosome 1, 77942750: 77942752
22 NEXN NM_144573.3(NEXN): c.363G> A (p.Thr121=) single nucleotide variant Benign/Likely benign rs35117963 GRCh37 Chromosome 1, 78383874: 78383874
23 NEXN NM_144573.3(NEXN): c.363G> A (p.Thr121=) single nucleotide variant Benign/Likely benign rs35117963 GRCh38 Chromosome 1, 77918189: 77918189
24 NEXN NM_144573.3(NEXN): c.613G> A (p.Glu205Lys) single nucleotide variant Uncertain significance rs201447781 GRCh37 Chromosome 1, 78392222: 78392222
25 NEXN NM_144573.3(NEXN): c.613G> A (p.Glu205Lys) single nucleotide variant Uncertain significance rs201447781 GRCh38 Chromosome 1, 77926537: 77926537
26 NEXN NM_144573.3(NEXN): c.732C> A (p.Pro244=) single nucleotide variant Conflicting interpretations of pathogenicity rs201171783 GRCh37 Chromosome 1, 78392445: 78392445
27 NEXN NM_144573.3(NEXN): c.732C> A (p.Pro244=) single nucleotide variant Conflicting interpretations of pathogenicity rs201171783 GRCh38 Chromosome 1, 77926760: 77926760
28 NEXN NM_144573.3(NEXN): c.777A> G (p.Gln259=) single nucleotide variant Benign/Likely benign rs375544798 GRCh37 Chromosome 1, 78392490: 78392490
29 NEXN NM_144573.3(NEXN): c.777A> G (p.Gln259=) single nucleotide variant Benign/Likely benign rs375544798 GRCh38 Chromosome 1, 77926805: 77926805
30 NEXN NM_144573.3(NEXN): c.893C> G (p.Thr298Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200753280 GRCh37 Chromosome 1, 78395029: 78395029
31 NEXN NM_144573.3(NEXN): c.893C> G (p.Thr298Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200753280 GRCh38 Chromosome 1, 77929344: 77929344
32 NEXN NM_144573.3(NEXN): c.995A> C (p.Glu332Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201763096 GRCh37 Chromosome 1, 78395131: 78395131
33 NEXN NM_144573.3(NEXN): c.995A> C (p.Glu332Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201763096 GRCh38 Chromosome 1, 77929446: 77929446
34 NEXN NM_144573.3(NEXN): c.1408G> C (p.Glu470Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs35366555 GRCh37 Chromosome 1, 78401664: 78401664
35 NEXN NM_144573.3(NEXN): c.1408G> C (p.Glu470Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs35366555 GRCh38 Chromosome 1, 77935979: 77935979
36 NEXN NM_144573.3(NEXN): c.237T> C (p.Ala79=) single nucleotide variant Likely benign rs727504549 GRCh38 Chromosome 1, 77917977: 77917977
37 NEXN NM_144573.3(NEXN): c.237T> C (p.Ala79=) single nucleotide variant Likely benign rs727504549 GRCh37 Chromosome 1, 78383662: 78383662
38 NEXN NM_144573.3(NEXN): c.586C> T (p.Arg196Cys) single nucleotide variant Uncertain significance rs369486891 GRCh38 Chromosome 1, 77926510: 77926510
39 NEXN NM_144573.3(NEXN): c.586C> T (p.Arg196Cys) single nucleotide variant Uncertain significance rs369486891 GRCh37 Chromosome 1, 78392195: 78392195
40 NEXN NM_144573.3(NEXN): c.949A> C (p.Met317Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs559464457 GRCh38 Chromosome 1, 77929400: 77929400
41 NEXN NM_144573.3(NEXN): c.949A> C (p.Met317Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs559464457 GRCh37 Chromosome 1, 78395085: 78395085
42 NEXN NM_144573.3(NEXN): c.1029G> A (p.Ala343=) single nucleotide variant Conflicting interpretations of pathogenicity rs374260457 GRCh38 Chromosome 1, 77929480: 77929480
43 NEXN NM_144573.3(NEXN): c.1029G> A (p.Ala343=) single nucleotide variant Conflicting interpretations of pathogenicity rs374260457 GRCh37 Chromosome 1, 78395165: 78395165
44 NEXN NM_144573.3(NEXN): c.1582G> C (p.Glu528Gln) single nucleotide variant Likely benign rs200071700 GRCh37 Chromosome 1, 78407816: 78407816
45 NEXN NM_144573.3(NEXN): c.1582G> C (p.Glu528Gln) single nucleotide variant Likely benign rs200071700 GRCh38 Chromosome 1, 77942131: 77942131
46 NEXN NM_144573.3(NEXN): c.1582_1584delGAA (p.Glu528del) deletion Uncertain significance rs794727077 GRCh37 Chromosome 1, 78407816: 78407818
47 NEXN NM_144573.3(NEXN): c.1582_1584delGAA (p.Glu528del) deletion Uncertain significance rs794727077 GRCh38 Chromosome 1, 77942131: 77942133
48 NEXN NM_144573.3(NEXN): c.242A> T (p.Asp81Val) single nucleotide variant Uncertain significance rs367871780 GRCh38 Chromosome 1, 77917982: 77917982
49 NEXN NM_144573.3(NEXN): c.242A> T (p.Asp81Val) single nucleotide variant Uncertain significance rs367871780 GRCh37 Chromosome 1, 78383667: 78383667
50 NEXN NM_144573.3(NEXN): c.512T> C (p.Ile171Thr) single nucleotide variant Benign/Likely benign rs372065024 GRCh37 Chromosome 1, 78392121: 78392121

Expression for Cardiomyopathy, Dilated, 1cc

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

Pathways for Cardiomyopathy, Dilated, 1cc

GO Terms for Cardiomyopathy, Dilated, 1cc

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