MCID: CRD102
MIFTS: 26

Cardiomyopathy, Dilated, 1j

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1j

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1j:

Name: Cardiomyopathy, Dilated, 1j 57 13 73
Dilated Cardiomyopathy 1j 12 29 6 15
Cmd1j 57 12 75
Sensorineural Hearing Loss with Dilated Cardiomyopathy 12 59
Neurosensory Hearing Loss with Dilated Cardiomyopathy 12 59
Sensorineural Deafness with Dilated Cardiomyopathy 12 59
Neurosensory Deafness with Dilated Cardiomyopathy 12 59
Cardiomyopathy, Dilated, with Sensorineural Hearing Loss, Autosomal Dominant 57
Autosomal Dominant Dilated Cardiomyopathy with Sensorineural Hearing Loss 12
Cardiomyopathy Dilated with Sensorineural Hearing Loss Autosomal Dominant 75
Cardiomyopathy, Dilated, Type 1j 40
Cardiomyopathy, Dilated 1j 75

Characteristics:

Orphanet epidemiological data:

59
sensorineural deafness with dilated cardiomyopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
based on description of one family (mce)
some family members had hearing loss and no detectable heart disease


HPO:

32
cardiomyopathy, dilated, 1j:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Dilated, 1j

UniProtKB/Swiss-Prot : 75 Cardiomyopathy, dilated 1J: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD1J is characterized by the association of sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies.

MalaCards based summary : Cardiomyopathy, Dilated, 1j, also known as dilated cardiomyopathy 1j, is related to deafness, autosomal dominant 10. An important gene associated with Cardiomyopathy, Dilated, 1j is EYA4 (EYA Transcriptional Coactivator And Phosphatase 4). Affiliated tissues include heart, and related phenotypes are hearing impairment and congestive heart failure

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the EYA4 gene on chromosome 6q23.2.

Description from OMIM: 605362

Related Diseases for Cardiomyopathy, Dilated, 1j

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1j

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
sudden death
left ventricular dysfunction
left ventricular dilation
progressive heart failure
hypertrophic myocytes with enlarged hyperchromatic nuclei
more
Head And Neck Ears:
hearing loss, sensorineural, postlingual


Clinical features from OMIM:

605362

Human phenotypes related to Cardiomyopathy, Dilated, 1j:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
2 congestive heart failure 59 32 hallmark (90%) Very frequent (99-80%) HP:0001635
3 dilated cardiomyopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001644
4 abnormal cardiac ventricular function 59 32 hallmark (90%) Very frequent (99-80%) HP:0030872
5 recurrent infections of the middle ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0040268
6 sensorineural hearing impairment 32 HP:0000407
7 sudden cardiac death 32 HP:0001645

MGI Mouse Phenotypes related to Cardiomyopathy, Dilated, 1j:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.62 EYA4 TCF21

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1j

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

Genetic Tests for Cardiomyopathy, Dilated, 1j

Genetic tests related to Cardiomyopathy, Dilated, 1j:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1j 29 EYA4

Anatomical Context for Cardiomyopathy, Dilated, 1j

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

41
Heart

Publications for Cardiomyopathy, Dilated, 1j

Variations for Cardiomyopathy, Dilated, 1j

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

6
(show top 50) (show all 103)
# Gene Variation Type Significance SNP ID Assembly Location
1 EYA4 EYA4, 4,846-BP DEL deletion Pathogenic
2 EYA4 NM_004100.4(EYA4): c.905G> A (p.Gly302Asp) single nucleotide variant Benign rs75133151 GRCh37 Chromosome 6, 133789804: 133789804
3 EYA4 NM_004100.4(EYA4): c.905G> A (p.Gly302Asp) single nucleotide variant Benign rs75133151 GRCh38 Chromosome 6, 133468666: 133468666
4 EYA4 NM_004100.4(EYA4): c.866C> T (p.Thr289Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41286200 GRCh37 Chromosome 6, 133789765: 133789765
5 EYA4 NM_004100.4(EYA4): c.866C> T (p.Thr289Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41286200 GRCh38 Chromosome 6, 133468627: 133468627
6 EYA4 NM_004100.4(EYA4): c.1109G> A (p.Arg370His) single nucleotide variant Uncertain significance rs143936434 GRCh37 Chromosome 6, 133804171: 133804171
7 EYA4 NM_004100.4(EYA4): c.1109G> A (p.Arg370His) single nucleotide variant Uncertain significance rs143936434 GRCh38 Chromosome 6, 133483033: 133483033
8 EYA4 NM_004100.4(EYA4): c.1418G> T (p.Gly473Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146977269 GRCh37 Chromosome 6, 133834093: 133834093
9 EYA4 NM_004100.4(EYA4): c.1418G> T (p.Gly473Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146977269 GRCh38 Chromosome 6, 133512955: 133512955
10 EYA4 NM_004100.4(EYA4): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs200593099 GRCh37 Chromosome 6, 133595920: 133595920
11 EYA4 NM_004100.4(EYA4): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs200593099 GRCh38 Chromosome 6, 133274782: 133274782
12 EYA4 NM_004100.4(EYA4): c.215A> G (p.Asn72Ser) single nucleotide variant Uncertain significance rs200688814 GRCh38 Chromosome 6, 133448117: 133448117
13 EYA4 NM_004100.4(EYA4): c.215A> G (p.Asn72Ser) single nucleotide variant Uncertain significance rs200688814 GRCh37 Chromosome 6, 133769255: 133769255
14 EYA4 NM_004100.4(EYA4): c.887C> T (p.Ser296Leu) single nucleotide variant Uncertain significance rs755455584 GRCh37 Chromosome 6, 133789786: 133789786
15 EYA4 NM_004100.4(EYA4): c.887C> T (p.Ser296Leu) single nucleotide variant Uncertain significance rs755455584 GRCh38 Chromosome 6, 133468648: 133468648
16 EYA4 NM_004100.4(EYA4): c.979G> A (p.Asp327Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144415484 GRCh38 Chromosome 6, 133481471: 133481471
17 EYA4 NM_004100.4(EYA4): c.979G> A (p.Asp327Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144415484 GRCh37 Chromosome 6, 133802609: 133802609
18 EYA4 NM_004100.4(EYA4): c.1035G> C (p.Arg345Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140170914 GRCh37 Chromosome 6, 133802665: 133802665
19 EYA4 NM_004100.4(EYA4): c.1035G> C (p.Arg345Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140170914 GRCh38 Chromosome 6, 133481527: 133481527
20 EYA4 NM_004100.4(EYA4): c.1603A> G (p.Ile535Val) single nucleotide variant Uncertain significance rs200300314 GRCh37 Chromosome 6, 133836560: 133836560
21 EYA4 NM_004100.4(EYA4): c.1603A> G (p.Ile535Val) single nucleotide variant Uncertain significance rs200300314 GRCh38 Chromosome 6, 133515422: 133515422
22 EYA4 NM_004100.4(EYA4): c.277+9G> A single nucleotide variant Benign rs145320803 GRCh37 Chromosome 6, 133769326: 133769326
23 EYA4 NM_004100.4(EYA4): c.277+9G> A single nucleotide variant Benign rs145320803 GRCh38 Chromosome 6, 133448188: 133448188
24 EYA4 NM_004100.4(EYA4): c.641C> A (p.Pro214Gln) single nucleotide variant Uncertain significance rs878854624 GRCh38 Chromosome 6, 133462681: 133462681
25 EYA4 NM_004100.4(EYA4): c.641C> A (p.Pro214Gln) single nucleotide variant Uncertain significance rs878854624 GRCh37 Chromosome 6, 133783819: 133783819
26 EYA4 NM_004100.4(EYA4): c.971-7T> C single nucleotide variant Likely benign rs764351261 GRCh37 Chromosome 6, 133802594: 133802594
27 EYA4 NM_004100.4(EYA4): c.971-7T> C single nucleotide variant Likely benign rs764351261 GRCh38 Chromosome 6, 133481456: 133481456
28 EYA4 NM_004100.4(EYA4): c.987G> T (p.Met329Ile) single nucleotide variant Uncertain significance rs146144708 GRCh37 Chromosome 6, 133802617: 133802617
29 EYA4 NM_004100.4(EYA4): c.987G> T (p.Met329Ile) single nucleotide variant Uncertain significance rs146144708 GRCh38 Chromosome 6, 133481479: 133481479
30 EYA4 NM_004100.4(EYA4): c.1671G> A (p.Ala557=) single nucleotide variant Likely benign rs768995654 GRCh37 Chromosome 6, 133844248: 133844248
31 EYA4 NM_004100.4(EYA4): c.1671G> A (p.Ala557=) single nucleotide variant Likely benign rs768995654 GRCh38 Chromosome 6, 133523110: 133523110
32 EYA4 NM_004100.4(EYA4): c.1773G> A (p.Arg591=) single nucleotide variant Likely benign rs772266373 GRCh37 Chromosome 6, 133846326: 133846326
33 EYA4 NM_004100.4(EYA4): c.1773G> A (p.Arg591=) single nucleotide variant Likely benign rs772266373 GRCh38 Chromosome 6, 133525188: 133525188
34 EYA4 NM_172105.3(EYA4): c.1107+10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs752586864 GRCh38 Chromosome 6, 133481609: 133481609
35 EYA4 NM_172105.3(EYA4): c.1107+10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs752586864 GRCh37 Chromosome 6, 133802747: 133802747
36 EYA4 NM_004100.4(EYA4): c.707A> G (p.Tyr236Cys) single nucleotide variant Uncertain significance rs1060502993 GRCh37 Chromosome 6, 133783885: 133783885
37 EYA4 NM_004100.4(EYA4): c.707A> G (p.Tyr236Cys) single nucleotide variant Uncertain significance rs1060502993 GRCh38 Chromosome 6, 133462747: 133462747
38 EYA4 NM_004100.4(EYA4): c.83+5A> G single nucleotide variant Uncertain significance rs1060502995 GRCh37 Chromosome 6, 133703584: 133703584
39 EYA4 NM_004100.4(EYA4): c.83+5A> G single nucleotide variant Uncertain significance rs1060502995 GRCh38 Chromosome 6, 133382446: 133382446
40 EYA4 NM_004100.4(EYA4): c.313A> C (p.Ser105Arg) single nucleotide variant Uncertain significance rs1060502994 GRCh37 Chromosome 6, 133777729: 133777729
41 EYA4 NM_004100.4(EYA4): c.313A> C (p.Ser105Arg) single nucleotide variant Uncertain significance rs1060502994 GRCh38 Chromosome 6, 133456591: 133456591
42 EYA4 NM_004100.4(EYA4): c.1161C> T (p.Leu387=) single nucleotide variant Likely benign rs140472262 GRCh37 Chromosome 6, 133804223: 133804223
43 EYA4 NM_004100.4(EYA4): c.1161C> T (p.Leu387=) single nucleotide variant Likely benign rs140472262 GRCh38 Chromosome 6, 133483085: 133483085
44 EYA4 NM_004100.4(EYA4): c.951A> C (p.Pro317=) single nucleotide variant Likely benign rs1060504783 GRCh37 Chromosome 6, 133789850: 133789850
45 EYA4 NM_004100.4(EYA4): c.951A> C (p.Pro317=) single nucleotide variant Likely benign rs1060504783 GRCh38 Chromosome 6, 133468712: 133468712
46 EYA4 NM_004100.4(EYA4): c.1329G> A (p.Gly443=) single nucleotide variant Benign rs141300030 GRCh37 Chromosome 6, 133833906: 133833906
47 EYA4 NM_004100.4(EYA4): c.1329G> A (p.Gly443=) single nucleotide variant Benign rs141300030 GRCh38 Chromosome 6, 133512768: 133512768
48 EYA4 NM_004100.4(EYA4): c.30A> G (p.Gln10=) single nucleotide variant Uncertain significance rs1060502996 GRCh37 Chromosome 6, 133595948: 133595948
49 EYA4 NM_004100.4(EYA4): c.30A> G (p.Gln10=) single nucleotide variant Uncertain significance rs1060502996 GRCh38 Chromosome 6, 133274810: 133274810
50 EYA4 NM_004100.4(EYA4): c.59A> G (p.Asp20Gly) single nucleotide variant Uncertain significance rs779385322 GRCh37 Chromosome 6, 133703555: 133703555

Expression for Cardiomyopathy, Dilated, 1j

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Pathways for Cardiomyopathy, Dilated, 1j

GO Terms for Cardiomyopathy, Dilated, 1j

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