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 57 13 72
Dilated Cardiomyopathy 1cc 12 29 6
Cmd1cc 57 12 74
Cardiomyopathy, Dilated, Type 1cc 40
Cardiomyopathy, Dilated 1cc 74

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:

Disease Ontology 12 DOID:0110424
MeSH 44 D002311
ICD10 33 I42.0
MedGen 42 C2751084
UMLS 72 C2751084

Summaries for Cardiomyopathy, Dilated, 1cc

UniProtKB/Swiss-Prot : 74 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:

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

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

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

Articles related to Cardiomyopathy, Dilated, 1cc:

# Title Authors PMID Year
1
Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. 8 71
19881492 2009
2
Dilated Cardiomyopathy Overview 71
20301486 2007

Variations for Cardiomyopathy, Dilated, 1cc

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

6 (show top 50) (show all 87)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NEXN NEXN, 3-BP DEL, 1948GGA deletion Pathogenic
2 NEXN NM_144573.3(NEXN): c.1831C> A (p.Pro611Thr) single nucleotide variant Pathogenic rs137853198 1:78408317-78408317 1:77942632-77942632
3 NEXN NM_144573.3(NEXN): c.799G> T (p.Glu267Ter) single nucleotide variant Likely pathogenic 1:78392512-78392512 1:77926827-77926827
4 NEXN NM_144573.3(NEXN): c.1671_1673GGA[3] (p.Glu562del) short repeat Conflicting interpretations of pathogenicity rs397517848 1:78408166-78408168 1:77942481-77942483
5 NEXN NM_144573.3(NEXN): c.893C> G (p.Thr298Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs200753280 1:78395029-78395029 1:77929344-77929344
6 NEXN NM_144573.3(NEXN): c.995A> C (p.Glu332Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201763096 1:78395131-78395131 1:77929446-77929446
7 NEXN NM_144573.3(NEXN): c.1408G> C (p.Glu470Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs35366555 1:78401664-78401664 1:77935979-77935979
8 NEXN NM_144573.3(NEXN): c.949A> C (p.Met317Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs559464457 1:78395085-78395085 1:77929400-77929400
9 NEXN NM_144573.3(NEXN): c.1029G> A (p.Ala343=) single nucleotide variant Conflicting interpretations of pathogenicity rs374260457 1:78395165-78395165 1:77929480-77929480
10 NEXN NM_144573.3(NEXN): c.512T> C (p.Ile171Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs372065024 1:78392121-78392121 1:77926436-77926436
11 NEXN NM_144573.3(NEXN): c.856C> T (p.Arg286Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199917913 1:78392569-78392569 1:77926884-77926884
12 NEXN NM_144573.3(NEXN): c.1618A> G (p.Met540Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201390657 1:78407852-78407852 1:77942167-77942167
13 NEXN NM_144573.3(NEXN): c.835C> T (p.Arg279Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs146245480 1:78392548-78392548 1:77926863-77926863
14 NEXN NM_144573.3(NEXN): c.1955A> G (p.Tyr652Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs137853197 1:78408441-78408441 1:77942756-77942756
15 NEXN NM_144573.3(NEXN): c.1671_1673GGA[2] (p.Glu561_Glu562del) short repeat Conflicting interpretations of pathogenicity rs397517848 1:78408163-78408168 1:77942478-77942483
16 NEXN NM_144573.3(NEXN): c.1946_1948GAG[1] (p.Gly650del) short repeat Conflicting interpretations of pathogenicity rs397517853 1:78408435-78408437 1:77942750-77942752
17 NEXN NM_144573.3(NEXN): c.732C> A (p.Pro244=) single nucleotide variant Conflicting interpretations of pathogenicity rs201171783 1:78392445-78392445 1:77926760-77926760
18 NEXN NM_144573.3(NEXN): c.1918_1922del (p.Tyr640fs) deletion Conflicting interpretations of pathogenicity rs1222794437 1:78408404-78408408 1:77942719-77942723
19 NEXN NM_144573.3(NEXN): c.277G> C (p.Ala93Pro) single nucleotide variant Uncertain significance rs1256690084 1:78383702-78383702 1:77918017-77918017
20 NEXN NM_144573.3(NEXN): c.1994G> T (p.Ser665Ile) single nucleotide variant Uncertain significance rs777703689 1:78408480-78408480 1:77942795-77942795
21 NEXN NM_144573.3(NEXN): c.491A> G (p.Glu164Gly) single nucleotide variant Uncertain significance rs1553238441 1:78392100-78392100 1:77926415-77926415
22 NEXN NM_144573.3(NEXN): c.767G> A (p.Arg256Gln) single nucleotide variant Uncertain significance rs748921688 1:78392480-78392480 1:77926795-77926795
23 NEXN NM_144573.3(NEXN): c.1348dup (p.Ser450fs) duplication Uncertain significance rs1553240600 1:78401604-78401604 1:77935919-77935919
24 NEXN NM_144573.3(NEXN): c.1901_1904delinsTCT (p.Gly634fs) indel Uncertain significance rs1553242300 1:78408387-78408390 1:77942702-77942705
25 NEXN NM_144573.3(NEXN): c.902T> A (p.Ile301Asn) single nucleotide variant Uncertain significance rs373878384 1:78395038-78395038 1:77929353-77929353
26 NEXN NM_144573.3(NEXN): c.1852G> A (p.Glu618Lys) single nucleotide variant Uncertain significance rs1060502321 1:78408338-78408338 1:77942653-77942653
27 NEXN NM_144573.3(NEXN): c.1687G> T (p.Gly563Cys) single nucleotide variant Uncertain significance rs1060499571 1:78408173-78408173 1:77942488-77942488
28 NEXN NM_144573.3(NEXN): c.871G> A (p.Glu291Lys) single nucleotide variant Uncertain significance rs770120245 1:78395007-78395007 1:77929322-77929322
29 NEXN NM_144573.3(NEXN): c.1422G> A (p.Arg474=) single nucleotide variant Uncertain significance rs775204901 1:78401678-78401678 1:77935993-77935993
30 NEXN NM_144573.3(NEXN): c.1429A> G (p.Ile477Val) single nucleotide variant Uncertain significance rs1553240667 1:78401685-78401685 1:77936000-77936000
31 NEXN NM_144573.3(NEXN): c.1997C> A (p.Thr666Asn) single nucleotide variant Uncertain significance rs749271412 1:78408483-78408483 1:77942798-77942798
32 NEXN NM_144573.3(NEXN): c.613G> A (p.Glu205Lys) single nucleotide variant Uncertain significance rs201447781 1:78392222-78392222 1:77926537-77926537
33 NEXN NM_144573.3(NEXN): c.1753_1755AAG[1] (p.Lys586del) short repeat Uncertain significance rs397517851 1:78408242-78408244 1:77942557-77942559
34 NEXN NM_144573.3(NEXN): c.1788T> G (p.Ser596Arg) single nucleotide variant Uncertain significance rs199738750 1:78408274-78408274 1:77942589-77942589
35 NEXN NM_144573.3(NEXN): c.1401_1403AGA[2] (p.Glu470del) short repeat Uncertain significance rs397517846 1:78401663-78401665 1:77935978-77935980
36 NEXN NM_144573.3(NEXN): c.1457C> G (p.Ala486Gly) single nucleotide variant Uncertain significance rs397517847 1:78401713-78401713 1:77936028-77936028
37 NEXN NM_144573.3(NEXN): c.818G> A (p.Arg273His) single nucleotide variant Uncertain significance rs765385072 1:78392531-78392531 1:77926846-77926846
38 NEXN NM_144573.3(NEXN): c.1244T> C (p.Met415Thr) single nucleotide variant Uncertain significance rs1172366391 1:78399157-78399157 1:77933472-77933472
39 NEXN NM_144573.3(NEXN): c.1053+1G> A single nucleotide variant Uncertain significance rs397517843 1:78395190-78395190 1:77929505-77929505
40 NEXN NM_144573.3(NEXN): c.1112C> T (p.Pro371Leu) single nucleotide variant Uncertain significance rs200067011 1:78399025-78399025 1:77933340-77933340
41 NEXN NM_144573.3(NEXN): c.1640T> C (p.Ile547Thr) single nucleotide variant Uncertain significance rs753636624 1:78407874-78407874 1:77942189-77942189
42 NEXN NM_144573.3(NEXN): c.1573_1575GAA[3] (p.Glu528del) short repeat Uncertain significance rs764505909 1:78407816-78407818 1:77942131-77942133
43 NEXN NM_144573.3(NEXN): c.242A> T (p.Asp81Val) single nucleotide variant Uncertain significance rs367871780 1:78383667-78383667 1:77917982-77917982
44 NEXN NM_144573.3(NEXN): c.1271C> T (p.Thr424Ile) single nucleotide variant Uncertain significance rs200442502 1:78401527-78401527 1:77935842-77935842
45 NEXN NM_144573.3(NEXN): c.1416_1418AAG[1] (p.Arg475del) short repeat Uncertain significance rs794729091 1:78401675-78401677 1:77935990-77935992
46 NEXN NM_144573.3(NEXN): c.1430T> C (p.Ile477Thr) single nucleotide variant Uncertain significance 1:78401686-78401686 1:77936001-77936001
47 NEXN NM_144573.3(NEXN): c.1435C> T (p.Leu479Phe) single nucleotide variant Uncertain significance rs181520023 1:78401691-78401691 1:77936006-77936006
48 NEXN NM_144573.3(NEXN): c.1471G> C (p.Glu491Gln) single nucleotide variant Uncertain significance rs373057251 1:78401727-78401727 1:77936042-77936042
49 NEXN NM_144573.3(NEXN): c.586C> T (p.Arg196Cys) single nucleotide variant Uncertain significance rs369486891 1:78392195-78392195 1:77926510-77926510
50 NEXN NM_144573.3(NEXN): c.86G> T (p.Gly29Val) single nucleotide variant Uncertain significance rs876657931 1:78383309-78383309 1:77917624-77917624

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

74
# 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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