CMD1X
MCID: CRD101
MIFTS: 22

Cardiomyopathy, Dilated, 1x (CMD1X)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1x

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1x:

Name: Cardiomyopathy, Dilated, 1x 58 13 74
Dilated Cardiomyopathy 1x 12 30 6 15
Cmd1x 58 12 76
Dilated Cardiomyopathy with Mild or No Proximal Muscle Weakness 12 76
Cardiomyopathy, Dilated, with Mild or No Proximal Muscle Weakness 58
Cardiomyopathy, Dilated, Type 1x 41
Cardiomyopathy, Dilated 1x 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cardiomyopathy, dilated, 1x:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110444
OMIM 58 611615
MeSH 45 D002311
ICD10 34 I42.0
MedGen 43 C1969024
UMLS 74 C1969024

Summaries for Cardiomyopathy, Dilated, 1x

UniProtKB/Swiss-Prot : 76 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. 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

Human phenotypes related to Cardiomyopathy, Dilated, 1x:

33
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 33 HP:0001644
2 proximal muscle weakness 33 HP:0003701

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
cardiomyopathy, dilated

Muscle Soft Tissue:
proximal muscle weakness, mild

Clinical features from OMIM:

611615

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 30 FKTN

Anatomical Context for Cardiomyopathy, Dilated, 1x

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

42
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
2
Consensus statement on standard of care for congenital muscular dystrophies. ( 21078917 )
2010
3
Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. ( 19842201 )
2009
4
Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. ( 17036286 )
2006
5
Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations. ( 16222679 )
2005
6
A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. ( 15103718 )
2004
7
Age and origin of the FCMD 3'-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in the Japanese population. ( 11153909 )
2000
8
An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. ( 9690476 )
1998

Variations for Cardiomyopathy, Dilated, 1x

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

76
# 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 (show all 15)
# 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
6 FKTN NM_001079802.1(FKTN): c.1228C> A (p.His410Asn) single nucleotide variant Uncertain significance rs146272618 GRCh37 Chromosome 9, 108397387: 108397387
7 FKTN NM_001079802.1(FKTN): c.1228C> A (p.His410Asn) single nucleotide variant Uncertain significance rs146272618 GRCh38 Chromosome 9, 105635106: 105635106
8 FKTN NM_001079802.1(FKTN): c.383G> A (p.Arg128Gln) single nucleotide variant Uncertain significance rs146049441 GRCh37 Chromosome 9, 108366509: 108366509
9 FKTN NM_001079802.1(FKTN): c.383G> A (p.Arg128Gln) single nucleotide variant Uncertain significance rs146049441 GRCh38 Chromosome 9, 105604228: 105604228
10 FKTN NM_001079802.1(FKTN): c.559G> A (p.Gly187Ser) single nucleotide variant Uncertain significance rs1187674499 GRCh37 Chromosome 9, 108366685: 108366685
11 FKTN NM_001079802.1(FKTN): c.559G> A (p.Gly187Ser) single nucleotide variant Uncertain significance rs1187674499 GRCh38 Chromosome 9, 105604404: 105604404
12 FKTN NM_006731.2(FKTN): c.647+2084G> T single nucleotide variant Likely pathogenic rs1554754182 GRCh37 Chromosome 9, 108368857: 108368857
13 FKTN NM_006731.2(FKTN): c.647+2084G> T single nucleotide variant Likely pathogenic rs1554754182 GRCh38 Chromosome 9, 105606576: 105606576
14 FKTN NM_001079802.1(FKTN): c.1337A> G (p.Asn446Ser) single nucleotide variant Uncertain significance rs374912618 GRCh37 Chromosome 9, 108397496: 108397496
15 FKTN NM_001079802.1(FKTN): c.1337A> G (p.Asn446Ser) single nucleotide variant Uncertain significance rs374912618 GRCh38 Chromosome 9, 105635215: 105635215

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
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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33 HPO
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35 ICD10 via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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