MCID: CRD101
MIFTS: 21

Cardiomyopathy, Dilated, 1x

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1x

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1x:

Name: Cardiomyopathy, Dilated, 1x 57 13 73
Dilated Cardiomyopathy 1x 12 29 6 15
Cmd1x 57 12 75
Dilated Cardiomyopathy with Mild or No Proximal Muscle Weakness 12 75
Cardiomyopathy, Dilated, with Mild or No Proximal Muscle Weakness 57
Cardiomyopathy, Dilated, Type 1x 40
Cardiomyopathy, Dilated 1x 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cardiomyopathy, dilated, 1x:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 611615
Disease Ontology 12 DOID:0110444
ICD10 33 I42.0
MedGen 42 C1969024
MeSH 44 D002311
UMLS 73 C1969024

Summaries for Cardiomyopathy, Dilated, 1x

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, dilated 1X: 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, 1x, also known as dilated cardiomyopathy 1x, is related to dilated cardiomyopathy and placenta disease. An important gene associated with Cardiomyopathy, Dilated, 1x is FKTN (Fukutin). Affiliated tissues include heart, and related phenotypes are dilated cardiomyopathy and proximal muscle weakness

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the FKTN gene on chromosome 9q31.

Description from OMIM: 611615

Related Diseases for Cardiomyopathy, Dilated, 1x

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1x

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomyopathy, dilated

Muscle Soft Tissue:
proximal muscle weakness, mild


Clinical features from OMIM:

611615

Human phenotypes related to Cardiomyopathy, Dilated, 1x:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644
2 proximal muscle weakness 32 HP:0003701

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1x

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

Genetic Tests for Cardiomyopathy, Dilated, 1x

Genetic tests related to Cardiomyopathy, Dilated, 1x:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1x 29 FKTN

Anatomical Context for Cardiomyopathy, Dilated, 1x

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1x

Articles related to Cardiomyopathy, Dilated, 1x:

# Title Authors Year
1
A case of pregnancy complicated with dilated cardiomyopathy 1X. ( 26566449 )
2015

Variations for Cardiomyopathy, Dilated, 1x

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

75
# Symbol AA change Variation ID SNP ID
1 FKTN p.Arg179Thr VAR_039287 rs119463994
2 FKTN p.Gln358Pro VAR_039289 rs119463993

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FKTN NM_006731.2(FKTN): c.*4392_*4393insAB185332.1 insertion Pathogenic
2 FKTN NM_001079802.1(FKTN): c.1073A> C (p.Gln358Pro) single nucleotide variant Pathogenic rs119463993 GRCh37 Chromosome 9, 108382243: 108382243
3 FKTN NM_001079802.1(FKTN): c.1073A> C (p.Gln358Pro) single nucleotide variant Pathogenic rs119463993 GRCh38 Chromosome 9, 105619962: 105619962
4 FKTN NM_001079802.1(FKTN): c.536G> C (p.Arg179Thr) single nucleotide variant Likely pathogenic rs119463994 GRCh37 Chromosome 9, 108366662: 108366662
5 FKTN NM_001079802.1(FKTN): c.536G> C (p.Arg179Thr) single nucleotide variant Likely pathogenic rs119463994 GRCh38 Chromosome 9, 105604381: 105604381

Expression for Cardiomyopathy, Dilated, 1x

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

Pathways for Cardiomyopathy, Dilated, 1x

GO Terms for Cardiomyopathy, Dilated, 1x

Sources for Cardiomyopathy, Dilated, 1x

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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