CMD1CC
MCID: CRD115
MIFTS: 23

Cardiomyopathy, Dilated, 1cc (CMD1CC)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1cc

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1cc:

Name: Cardiomyopathy, Dilated, 1cc 56 13 71
Dilated Cardiomyopathy 1cc 12 29 6
Cmd1cc 56 12 73
Cardiomyopathy, Dilated, Type 1cc 39
Cardiomyopathy, Dilated 1cc 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
cardiomyopathy, dilated, 1cc:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110424
OMIM 56 613122
OMIM Phenotypic Series 56 PS115200
MeSH 43 D002311
ICD10 32 I42.0
MedGen 41 C2751084
SNOMED-CT via HPO 68 195021004 263681008 399020009
UMLS 71 C2751084

Summaries for Cardiomyopathy, Dilated, 1cc

UniProtKB/Swiss-Prot : 73 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 bone, 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.

More information from OMIM: 613122 PS115200

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1cc

Human phenotypes related to Cardiomyopathy, Dilated, 1cc:

31
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 HP:0001644

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
cardiomyopathy, dilated
decreased left ventricular ejection fraction
decreased left ventricular end diastolic diameter

Clinical features from OMIM:

613122

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:

40
Heart, Bone

Publications for Cardiomyopathy, Dilated, 1cc

Articles related to Cardiomyopathy, Dilated, 1cc:

# Title Authors PMID Year
1
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. 56 6
19881492 2009
2
Dilated Cardiomyopathy Overview 6
20301486 2007

Variations for Cardiomyopathy, Dilated, 1cc

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

6 (show top 50) (show all 65) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEXN NEXN, 3-BP DEL, 1948GGAdeletion Pathogenic 325
2 NEXN NM_144573.3(NEXN):c.1831C>A (p.Pro611Thr)SNV Pathogenic 327 rs137853198 1:78408317-78408317 1:77942632-77942632
3 NEXN NM_144573.3(NEXN):c.799G>T (p.Glu267Ter)SNV Likely pathogenic 599095 rs771262904 1:78392512-78392512 1:77926827-77926827
4 NEXN NM_001172309.1(NEXN):c.1754_1756GAG[1] (p.Gly586del)short repeat Conflicting interpretations of pathogenicity 47899 rs397517853 1:78408435-78408437 1:77942746-77942748
5 NEXN NM_144573.3(NEXN):c.1918_1922del (p.Tyr640fs)deletion Conflicting interpretations of pathogenicity 470680 rs1222794437 1:78408401-78408405 1:77942716-77942720
6 NEXN NM_144573.3(NEXN):c.1955A>G (p.Tyr652Cys)SNV Conflicting interpretations of pathogenicity 326 rs137853197 1:78408441-78408441 1:77942756-77942756
7 NEXN NM_001172309.1(NEXN):c.1479_1481GGA[3] (p.Glu498del)short repeat Conflicting interpretations of pathogenicity 201945 rs397517848 1:78408155-78408157 1:77942470-77942472
8 NEXN NM_144573.3(NEXN):c.86G>T (p.Gly29Val)SNV Uncertain significance 229061 rs876657931 1:78383309-78383309 1:77917624-77917624
9 NEXN NM_144573.3(NEXN):c.379C>T (p.Arg127Cys)SNV Uncertain significance 229058 rs771113424 1:78383890-78383890 1:77918205-77918205
10 NEXN NM_144573.3(NEXN):c.1174C>T (p.Arg392Ter)SNV Uncertain significance 229051 rs750076188 1:78399087-78399087 1:77933402-77933402
11 NEXN NM_144573.3(NEXN):c.1415C>G (p.Ala472Gly)SNV Uncertain significance 229054 rs539665448 1:78401671-78401671 1:77935986-77935986
12 NEXN NM_144573.3(NEXN):c.586C>T (p.Arg196Cys)SNV Uncertain significance 179003 rs369486891 1:78392195-78392195 1:77926510-77926510
13 NEXN NM_144573.3(NEXN):c.1572_1574delAGAshort repeat Uncertain significance 194130 rs764505909 1:78407806-78407808 1:77942121-77942123
14 NEXN NM_144573.3(NEXN):c.242A>T (p.Asp81Val)SNV Uncertain significance 201915 rs367871780 1:78383667-78383667 1:77917982-77917982
15 NEXN NM_144573.3(NEXN):c.1271C>T (p.Thr424Ile)SNV Uncertain significance 201924 rs200442502 1:78401527-78401527 1:77935842-77935842
16 NEXN NM_144573.3(NEXN):c.1416_1418AAG[1] (p.Arg475del)short repeat Uncertain significance 201940 rs794729091 1:78401672-78401674 1:77935987-77935989
17 NEXN NM_144573.3(NEXN):c.1430T>C (p.Ile477Thr)SNV Uncertain significance 201934 rs727504658 1:78401686-78401686 1:77936001-77936001
18 NEXN NM_144573.3(NEXN):c.1435C>T (p.Leu479Phe)SNV Uncertain significance 201925 rs181520023 1:78401691-78401691 1:77936006-77936006
19 NEXN NM_144573.3(NEXN):c.1471G>C (p.Glu491Gln)SNV Uncertain significance 201926 rs373057251 1:78401727-78401727 1:77936042-77936042
20 NEXN NM_144573.3(NEXN):c.1640T>C (p.Ile547Thr)SNV Uncertain significance 201944 rs753636624 1:78407874-78407874 1:77942189-77942189
21 NEXN NM_144573.3(NEXN):c.277G>C (p.Ala93Pro)SNV Uncertain significance 470682 rs1256690084 1:78383702-78383702 1:77918017-77918017
22 NEXN NM_144573.3(NEXN):c.671G>A (p.Cys224Tyr)SNV Uncertain significance 298088 rs886046534 1:78392280-78392280 1:77926595-77926595
23 NEXN NM_144573.3(NEXN):c.902T>A (p.Ile301Asn)SNV Uncertain significance 409281 rs373878384 1:78395038-78395038 1:77929353-77929353
24 NEXN NM_144573.3(NEXN):c.1852G>A (p.Glu618Lys)SNV Uncertain significance 409282 rs1060502321 1:78408338-78408338 1:77942653-77942653
25 NEXN NM_144573.3(NEXN):c.1687G>T (p.Gly563Cys)SNV Uncertain significance 417868 rs1060499571 1:78408173-78408173 1:77942488-77942488
26 NEXN NM_144573.3(NEXN):c.871G>A (p.Glu291Lys)SNV Uncertain significance 470684 rs770120245 1:78395007-78395007 1:77929322-77929322
27 NEXN NM_144573.3(NEXN):c.613G>A (p.Glu205Lys)SNV Uncertain significance 47908 rs201447781 1:78392222-78392222 1:77926537-77926537
28 NEXN NM_144573.3(NEXN):c.687+4A>TSNV Uncertain significance 241866 rs754061340 1:78392300-78392300 1:77926615-77926615
29 NEXN NM_144573.3(NEXN):c.392A>C (p.Gln131Pro)SNV Uncertain significance 264597 rs397517858 1:78383903-78383903 1:77918218-77918218
30 NEXN NM_144573.3(NEXN):c.1053+1G>ASNV Uncertain significance 47886 rs397517843 1:78395190-78395190 1:77929505-77929505
31 NEXN NM_144573.3(NEXN):c.1112C>T (p.Pro371Leu)SNV Uncertain significance 47887 rs200067011 1:78399025-78399025 1:77933340-77933340
32 NEXN NM_001172309.1(NEXN):c.1209_1211AGA[2] (p.Glu406del)short repeat Uncertain significance 47890 rs397517846 1:78401657-78401659 1:77935972-77935974
33 NEXN NM_144573.3(NEXN):c.1457C>G (p.Ala486Gly)SNV Uncertain significance 47892 rs397517847 1:78401713-78401713 1:77936028-77936028
34 NEXN NM_001172309.1(NEXN):c.1561_1563AAG[1] (p.Lys522del)short repeat Uncertain significance 47896 rs397517851 1:78408239-78408241 1:77942554-77942556
35 NEXN NM_144573.3(NEXN):c.1788T>G (p.Ser596Arg)SNV Uncertain significance 47897 rs199738750 1:78408274-78408274 1:77942589-77942589
36 NEXN NM_144573.3(NEXN):c.134G>T (p.Arg45Ile)SNV Uncertain significance 643060 1:78383357-78383357 1:77917672-77917672
37 NEXN NM_144573.3(NEXN):c.431C>T (p.Ala144Val)SNV Uncertain significance 662564 1:78383942-78383942 1:77918257-77918257
38 NEXN NM_144573.3(NEXN):c.542C>T (p.Thr181Ile)SNV Uncertain significance 661519 1:78392151-78392151 1:77926466-77926466
39 NEXN NM_144573.3(NEXN):c.857G>A (p.Arg286Gln)SNV Uncertain significance 645036 1:78392570-78392570 1:77926885-77926885
40 NEXN NM_144573.3(NEXN):c.1046G>C (p.Arg349Thr)SNV Uncertain significance 649140 1:78395182-78395182 1:77929497-77929497
41 NEXN NM_144573.3(NEXN):c.1055T>C (p.Val352Ala)SNV Uncertain significance 662435 1:78398968-78398968 1:77933283-77933283
42 NEXN NM_144573.3(NEXN):c.1697T>C (p.Met566Thr)SNV Uncertain significance 641866 1:78408183-78408183 1:77942498-77942498
43 NEXN NM_144573.3(NEXN):c.1739G>A (p.Gly580Glu)SNV Uncertain significance 664341 1:78408225-78408225 1:77942540-77942540
44 NEXN NM_144573.3(NEXN):c.1877A>G (p.Glu626Gly)SNV Uncertain significance 665536 1:78408363-78408363 1:77942678-77942678
45 NEXN NM_144573.3(NEXN):c.2008A>T (p.Thr670Ser)SNV Uncertain significance 658474 1:78408494-78408494 1:77942809-77942809
46 NEXN NM_144573.3(NEXN):c.1994G>T (p.Ser665Ile)SNV Uncertain significance 538111 rs777703689 1:78408480-78408480 1:77942795-77942795
47 NEXN NM_144573.3(NEXN):c.491A>G (p.Glu164Gly)SNV Uncertain significance 538106 rs1553238441 1:78392100-78392100 1:77926415-77926415
48 NEXN NM_144573.3(NEXN):c.767G>A (p.Arg256Gln)SNV Uncertain significance 538105 rs748921688 1:78392480-78392480 1:77926795-77926795
49 NEXN NM_144573.3(NEXN):c.1348dup (p.Ser450fs)duplication Uncertain significance 538107 rs1553240600 1:78401599-78401600 1:77935914-77935915
50 NEXN NM_001172309.1(NEXN):c.1709_1712delinsTCT (p.Gly570fs)indel Uncertain significance 538109 rs1553242300 1:78408387-78408390 1:77942702-77942705

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

73
# Symbol AA change Variation ID SNP ID
1 NEXN p.Pro611Thr VAR_063009 rs137853198
2 NEXN p.Tyr652Cys VAR_063011 rs137853197

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

Sources for Cardiomyopathy, Dilated, 1cc

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