MCID: CRD115
MIFTS: 18

Cardiomyopathy, Dilated, 1cc

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Neuronal diseases, Ear 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 95)
# Gene Variation Type Significance SNP ID Assembly Location
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 GRCh37 Chromosome 1, 78408317: 78408317
3 NEXN NM_144573.3(NEXN): c.1831C> A (p.Pro611Thr) single nucleotide variant Pathogenic rs137853198 GRCh38 Chromosome 1, 77942632: 77942632
4 NEXN NM_144573.3(NEXN): c.237T> C (p.Ala79=) single nucleotide variant Likely benign rs727504549 GRCh37 Chromosome 1, 78383662: 78383662
5 NEXN NM_144573.3(NEXN): c.237T> C (p.Ala79=) single nucleotide variant Likely benign rs727504549 GRCh38 Chromosome 1, 77917977: 77917977
6 NEXN NM_144573.3(NEXN): c.586C> T (p.Arg196Cys) single nucleotide variant Uncertain significance rs369486891 GRCh37 Chromosome 1, 78392195: 78392195
7 NEXN NM_144573.3(NEXN): c.586C> T (p.Arg196Cys) single nucleotide variant Uncertain significance rs369486891 GRCh38 Chromosome 1, 77926510: 77926510
8 NEXN NM_144573.3(NEXN): c.949A> C (p.Met317Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs559464457 GRCh37 Chromosome 1, 78395085: 78395085
9 NEXN NM_144573.3(NEXN): c.949A> C (p.Met317Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs559464457 GRCh38 Chromosome 1, 77929400: 77929400
10 NEXN NM_144573.3(NEXN): c.1029G> A (p.Ala343=) single nucleotide variant Conflicting interpretations of pathogenicity rs374260457 GRCh37 Chromosome 1, 78395165: 78395165
11 NEXN NM_144573.3(NEXN): c.1029G> A (p.Ala343=) single nucleotide variant Conflicting interpretations of pathogenicity rs374260457 GRCh38 Chromosome 1, 77929480: 77929480
12 NEXN NM_144573.3(NEXN): c.1582G> C (p.Glu528Gln) single nucleotide variant Likely benign rs200071700 GRCh37 Chromosome 1, 78407816: 78407816
13 NEXN NM_144573.3(NEXN): c.1582G> C (p.Glu528Gln) single nucleotide variant Likely benign rs200071700 GRCh38 Chromosome 1, 77942131: 77942131
14 NEXN NM_144573.3(NEXN): c.1582_1584delGAA (p.Glu528del) deletion Uncertain significance rs794727077 GRCh37 Chromosome 1, 78407816: 78407818
15 NEXN NM_144573.3(NEXN): c.1582_1584delGAA (p.Glu528del) deletion Uncertain significance rs794727077 GRCh38 Chromosome 1, 77942131: 77942133
16 NEXN NM_144573.3(NEXN): c.242A> T (p.Asp81Val) single nucleotide variant Uncertain significance rs367871780 GRCh38 Chromosome 1, 77917982: 77917982
17 NEXN NM_144573.3(NEXN): c.242A> T (p.Asp81Val) single nucleotide variant Uncertain significance rs367871780 GRCh37 Chromosome 1, 78383667: 78383667
18 NEXN NM_144573.3(NEXN): c.512T> C (p.Ile171Thr) single nucleotide variant Benign/Likely benign rs372065024 GRCh37 Chromosome 1, 78392121: 78392121
19 NEXN NM_144573.3(NEXN): c.512T> C (p.Ile171Thr) single nucleotide variant Benign/Likely benign rs372065024 GRCh38 Chromosome 1, 77926436: 77926436
20 NEXN NM_144573.3(NEXN): c.856C> T (p.Arg286Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199917913 GRCh37 Chromosome 1, 78392569: 78392569
21 NEXN NM_144573.3(NEXN): c.856C> T (p.Arg286Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs199917913 GRCh38 Chromosome 1, 77926884: 77926884
22 NEXN NM_144573.3(NEXN): c.1271C> T (p.Thr424Ile) single nucleotide variant Uncertain significance rs200442502 GRCh37 Chromosome 1, 78401527: 78401527
23 NEXN NM_144573.3(NEXN): c.1271C> T (p.Thr424Ile) single nucleotide variant Uncertain significance rs200442502 GRCh38 Chromosome 1, 77935842: 77935842
24 NEXN NM_144573.3(NEXN): c.1419_1421delAAG (p.Arg475del) deletion Uncertain significance rs794729091 GRCh37 Chromosome 1, 78401675: 78401677
25 NEXN NM_144573.3(NEXN): c.1419_1421delAAG (p.Arg475del) deletion Uncertain significance rs794729091 GRCh38 Chromosome 1, 77935990: 77935992
26 NEXN NM_144573.3(NEXN): c.1435C> T (p.Leu479Phe) single nucleotide variant Uncertain significance rs181520023 GRCh37 Chromosome 1, 78401691: 78401691
27 NEXN NM_144573.3(NEXN): c.1435C> T (p.Leu479Phe) single nucleotide variant Uncertain significance rs181520023 GRCh38 Chromosome 1, 77936006: 77936006
28 NEXN NM_144573.3(NEXN): c.1471G> C (p.Glu491Gln) single nucleotide variant Uncertain significance rs373057251 GRCh37 Chromosome 1, 78401727: 78401727
29 NEXN NM_144573.3(NEXN): c.1471G> C (p.Glu491Gln) single nucleotide variant Uncertain significance rs373057251 GRCh38 Chromosome 1, 77936042: 77936042
30 NEXN NM_144573.3(NEXN): c.1618A> G (p.Met540Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201390657 GRCh37 Chromosome 1, 78407852: 78407852
31 NEXN NM_144573.3(NEXN): c.1618A> G (p.Met540Val) single nucleotide variant Conflicting interpretations of pathogenicity rs201390657 GRCh38 Chromosome 1, 77942167: 77942167
32 NEXN NM_144573.3(NEXN): c.1680_1682delGGA (p.Glu562del) deletion Conflicting interpretations of pathogenicity rs794729093 GRCh37 Chromosome 1, 78408166: 78408168
33 NEXN NM_144573.3(NEXN): c.1680_1682delGGA (p.Glu562del) deletion Conflicting interpretations of pathogenicity rs794729093 GRCh38 Chromosome 1, 77942481: 77942483
34 NEXN NM_144573.3(NEXN): c.156C> T (p.Asp52=) single nucleotide variant Benign/Likely benign rs371431782 GRCh37 Chromosome 1, 78383379: 78383379
35 NEXN NM_144573.3(NEXN): c.156C> T (p.Asp52=) single nucleotide variant Benign/Likely benign rs371431782 GRCh38 Chromosome 1, 77917694: 77917694
36 NEXN NM_144573.3(NEXN): c.1415C> G (p.Ala472Gly) single nucleotide variant Uncertain significance rs539665448 GRCh37 Chromosome 1, 78401671: 78401671
37 NEXN NM_144573.3(NEXN): c.1415C> G (p.Ala472Gly) single nucleotide variant Uncertain significance rs539665448 GRCh38 Chromosome 1, 77935986: 77935986
38 NEXN NM_144573.3(NEXN): c.222T> C (p.Ile74=) single nucleotide variant Likely benign rs767610015 GRCh37 Chromosome 1, 78383647: 78383647
39 NEXN NM_144573.3(NEXN): c.222T> C (p.Ile74=) single nucleotide variant Likely benign rs767610015 GRCh38 Chromosome 1, 77917962: 77917962
40 NEXN NM_144573.3(NEXN): c.687+4A> T single nucleotide variant Uncertain significance rs754061340 GRCh37 Chromosome 1, 78392300: 78392300
41 NEXN NM_144573.3(NEXN): c.687+4A> T single nucleotide variant Uncertain significance rs754061340 GRCh38 Chromosome 1, 77926615: 77926615
42 NEXN NM_144573.3(NEXN): c.688-10G> A single nucleotide variant Likely benign rs370574269 GRCh37 Chromosome 1, 78392391: 78392391
43 NEXN NM_144573.3(NEXN): c.688-10G> A single nucleotide variant Likely benign rs370574269 GRCh38 Chromosome 1, 77926706: 77926706
44 NEXN NM_144573.3(NEXN): c.1089A> C (p.Thr363=) single nucleotide variant Likely benign rs878855209 GRCh37 Chromosome 1, 78399002: 78399002
45 NEXN NM_144573.3(NEXN): c.1089A> C (p.Thr363=) single nucleotide variant Likely benign rs878855209 GRCh38 Chromosome 1, 77933317: 77933317
46 NEXN NM_144573.3(NEXN): c.1785C> T (p.Asp595=) single nucleotide variant Benign/Likely benign rs182998780 GRCh37 Chromosome 1, 78408271: 78408271
47 NEXN NM_144573.3(NEXN): c.1785C> T (p.Asp595=) single nucleotide variant Benign/Likely benign rs182998780 GRCh38 Chromosome 1, 77942586: 77942586
48 NEXN NM_144573.3(NEXN): c.671G> A (p.Cys224Tyr) single nucleotide variant Uncertain significance rs886046534 GRCh38 Chromosome 1, 77926595: 77926595
49 NEXN NM_144573.3(NEXN): c.671G> A (p.Cys224Tyr) single nucleotide variant Uncertain significance rs886046534 GRCh37 Chromosome 1, 78392280: 78392280
50 NEXN NM_144573.3(NEXN): c.1083T> C (p.Tyr361=) single nucleotide variant Likely benign rs1060504549 GRCh37 Chromosome 1, 78398996: 78398996

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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