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 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

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 104) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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_144573.4(NEXN):c.835C>T (p.Arg279Cys)SNV Conflicting interpretations of pathogenicity 30994 rs146245480 1:78392548-78392548 1:77926863-77926863
5 NEXN NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)SNV Conflicting interpretations of pathogenicity 326 rs137853197 1:78408441-78408441 1:77942756-77942756
6 NEXN NM_144573.3(NEXN):c.1918_1922del (p.Tyr640fs)deletion Conflicting interpretations of pathogenicity 470680 rs1222794437 1:78408401-78408405 1:77942716-77942720
7 NEXN NM_144573.3(NEXN):c.1671_1673GGA[2] (p.Glu561_Glu562del)short repeat Conflicting interpretations of pathogenicity 47893 rs397517848 1:78408155-78408160 1:77942470-77942475
8 NEXN NM_144573.4(NEXN):c.1946_1948GAG[1] (p.Gly650del)short repeat Conflicting interpretations of pathogenicity 47899 rs397517853 1:78408435-78408437 1:77942746-77942748
9 NEXN NM_144573.4(NEXN):c.732C>A (p.Pro244=)SNV Conflicting interpretations of pathogenicity 47910 rs201171783 1:78392445-78392445 1:77926760-77926760
10 NEXN NM_144573.4(NEXN):c.893C>G (p.Thr298Arg)SNV Conflicting interpretations of pathogenicity 47914 rs200753280 1:78395029-78395029 1:77929344-77929344
11 NEXN NM_144573.4(NEXN):c.995A>C (p.Glu332Ala)SNV Conflicting interpretations of pathogenicity 47915 rs201763096 1:78395131-78395131 1:77929446-77929446
12 NEXN NM_144573.4(NEXN):c.1408G>C (p.Glu470Gln)SNV Conflicting interpretations of pathogenicity 138511 rs35366555 1:78401664-78401664 1:77935979-77935979
13 NEXN NM_144573.4(NEXN):c.1252-10T>GSNV Conflicting interpretations of pathogenicity 178878 rs201019553 1:78401498-78401498 1:77935813-77935813
14 NEXN NM_144573.4(NEXN):c.249G>A (p.Glu83=)SNV Conflicting interpretations of pathogenicity 178102 rs372532824 1:78383674-78383674 1:77917989-77917989
15 NEXN NM_144573.4(NEXN):c.949A>C (p.Met317Leu)SNV Conflicting interpretations of pathogenicity 178904 rs559464457 1:78395085-78395085 1:77929400-77929400
16 NEXN NM_144573.4(NEXN):c.1029G>A (p.Ala343=)SNV Conflicting interpretations of pathogenicity 178103 rs374260457 1:78395165-78395165 1:77929480-77929480
17 NEXN NM_144573.4(NEXN):c.512T>C (p.Ile171Thr)SNV Conflicting interpretations of pathogenicity 201917 rs372065024 1:78392121-78392121 1:77926436-77926436
18 NEXN NM_144573.3(NEXN):c.856C>T (p.Arg286Trp)SNV Conflicting interpretations of pathogenicity 201919 rs199917913 1:78392569-78392569 1:77926884-77926884
19 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
20 NEXN NM_144573.3(NEXN):c.2026_*1deldeletion Uncertain significance 201946 rs794729094 1:78408509-78408512 1:77942824-77942827
21 NEXN NM_144573.4(NEXN):c.86G>T (p.Gly29Val)SNV Uncertain significance 229061 rs876657931 1:78383309-78383309 1:77917624-77917624
22 NEXN NM_144573.3(NEXN):c.1572_1574delAGAshort repeat Uncertain significance 194130 rs764505909 1:78407806-78407808 1:77942121-77942123
23 NEXN NM_144573.3(NEXN):c.242A>T (p.Asp81Val)SNV Uncertain significance 201915 rs367871780 1:78383667-78383667 1:77917982-77917982
24 NEXN NM_144573.4(NEXN):c.613G>A (p.Glu205Lys)SNV Uncertain significance 47908 rs201447781 1:78392222-78392222 1:77926537-77926537
25 NEXN NM_144573.3(NEXN):c.1640T>C (p.Ile547Thr)SNV Uncertain significance 201944 rs753636624 1:78407874-78407874 1:77942189-77942189
26 NEXN NM_144573.4(NEXN):c.379C>T (p.Arg127Cys)SNV Uncertain significance 229058 rs771113424 1:78383890-78383890 1:77918205-77918205
27 NEXN NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter)SNV Uncertain significance 229051 rs750076188 1:78399087-78399087 1:77933402-77933402
28 NEXN NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly)SNV Uncertain significance 229054 rs539665448 1:78401671-78401671 1:77935986-77935986
29 NEXN NM_144573.3(NEXN):c.1820_1822del (p.Gly607del)deletion Uncertain significance 229055 rs876657928 1:78408304-78408306 1:77942619-77942621
30 NEXN NM_144573.3(NEXN):c.687+4A>TSNV Uncertain significance 241866 rs754061340 1:78392300-78392300 1:77926615-77926615
31 NEXN NM_144573.3(NEXN):c.392A>C (p.Gln131Pro)SNV Uncertain significance 264597 rs397517858 1:78383903-78383903 1:77918218-77918218
32 NEXN NM_144573.3(NEXN):c.671G>A (p.Cys224Tyr)SNV Uncertain significance 298088 rs886046534 1:78392280-78392280 1:77926595-77926595
33 NEXN NM_144573.3(NEXN):c.1271C>T (p.Thr424Ile)SNV Uncertain significance 201924 rs200442502 1:78401527-78401527 1:77935842-77935842
34 NEXN NM_144573.3(NEXN):c.1416_1418AAG[1] (p.Arg475del)short repeat Uncertain significance 201940 rs794729091 1:78401672-78401674 1:77935987-77935989
35 NEXN NM_144573.3(NEXN):c.1430T>C (p.Ile477Thr)SNV Uncertain significance 201934 rs727504658 1:78401686-78401686 1:77936001-77936001
36 NEXN NM_144573.3(NEXN):c.1435C>T (p.Leu479Phe)SNV Uncertain significance 201925 rs181520023 1:78401691-78401691 1:77936006-77936006
37 NEXN NM_144573.3(NEXN):c.1471G>C (p.Glu491Gln)SNV Uncertain significance 201926 rs373057251 1:78401727-78401727 1:77936042-77936042
38 NEXN NM_144573.4(NEXN):c.1528A>G (p.Lys510Glu)SNV Uncertain significance 179277 rs727504758 1:78407762-78407762 1:77942077-77942077
39 NEXN NM_144573.4(NEXN):c.586C>T (p.Arg196Cys)SNV Uncertain significance 179003 rs369486891 1:78392195-78392195 1:77926510-77926510
40 NEXN NM_001172309.1(NEXN):c.1561_1563AAG[1] (p.Lys522del)short repeat Uncertain significance 47896 rs397517851 1:78408239-78408241 1:77942554-77942556
41 NEXN NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg)SNV Uncertain significance 47897 rs199738750 1:78408274-78408274 1:77942589-77942589
42 NEXN NM_144573.3(NEXN):c.277G>C (p.Ala93Pro)SNV Uncertain significance 470682 rs1256690084 1:78383702-78383702 1:77918017-77918017
43 NEXN NM_144573.4(NEXN):c.1053+1G>ASNV Uncertain significance 47886 rs397517843 1:78395190-78395190 1:77929505-77929505
44 NEXN NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)SNV Uncertain significance 47887 rs200067011 1:78399025-78399025 1:77933340-77933340
45 NEXN NM_144573.4(NEXN):c.1401_1403AGA[2] (p.Glu470del)short repeat Uncertain significance 47890 rs397517846 1:78401657-78401659 1:77935972-77935974
46 NEXN NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys)SNV Uncertain significance 47891 rs368812830 1:78401709-78401709 1:77936024-77936024
47 NEXN NM_144573.4(NEXN):c.1457C>G (p.Ala486Gly)SNV Uncertain significance 47892 rs397517847 1:78401713-78401713 1:77936028-77936028
48 NEXN NM_144573.3(NEXN):c.134G>T (p.Arg45Ile)SNV Uncertain significance 643060 1:78383357-78383357 1:77917672-77917672
49 NEXN NM_144573.3(NEXN):c.431C>T (p.Ala144Val)SNV Uncertain significance 662564 1:78383942-78383942 1:77918257-77918257
50 NEXN NM_144573.3(NEXN):c.542C>T (p.Thr181Ile)SNV Uncertain significance 661519 1:78392151-78392151 1:77926466-77926466

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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