CMD1J
MCID: CRD102
MIFTS: 29

Cardiomyopathy, Dilated, 1j (CMD1J)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1j

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1j:

Name: Cardiomyopathy, Dilated, 1j 58 13 74
Dilated Cardiomyopathy 1j 12 30 6 15
Cmd1j 58 12 76
Sensorineural Hearing Loss with Dilated Cardiomyopathy 12 60
Neurosensory Hearing Loss with Dilated Cardiomyopathy 12 60
Sensorineural Deafness with Dilated Cardiomyopathy 12 60
Neurosensory Deafness with Dilated Cardiomyopathy 12 60
Cardiomyopathy, Dilated, with Sensorineural Hearing Loss, Autosomal Dominant 58
Autosomal Dominant Dilated Cardiomyopathy with Sensorineural Hearing Loss 12
Cardiomyopathy Dilated with Sensorineural Hearing Loss Autosomal Dominant 76
Cardiomyopathy, Dilated, Type 1j 41
Cardiomyopathy, Dilated 1j 76

Characteristics:

Orphanet epidemiological data:

60
sensorineural deafness with dilated cardiomyopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cardiomyopathy, dilated, 1j:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Cardiomyopathy, Dilated, 1j

UniProtKB/Swiss-Prot : 76 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 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and sensorineural hearing loss. 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

Human phenotypes related to Cardiomyopathy, Dilated, 1j:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
2 congestive heart failure 60 33 hallmark (90%) Very frequent (99-80%) HP:0001635
3 dilated cardiomyopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0001644
4 abnormal cardiac ventricular function 60 33 hallmark (90%) Very frequent (99-80%) HP:0030872
5 recurrent infections of the middle ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0040268
6 sudden cardiac death 33 HP:0001645
7 sensorineural hearing impairment 33 HP:0000407
8 left ventricular dysfunction 33 HP:0005162

Symptoms via clinical synopsis from OMIM:

58
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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.96 EYA4 TCF21
2 digestive/alimentary MP:0005381 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 30 EYA4

Anatomical Context for Cardiomyopathy, Dilated, 1j

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

42
Heart

Publications for Cardiomyopathy, Dilated, 1j

Articles related to Cardiomyopathy, Dilated, 1j:

# Title Authors Year
1
Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. ( 15735644 )
2005
2
Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24. ( 10769282 )
2000

Variations for Cardiomyopathy, Dilated, 1j

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

6 (show top 50) (show all 139)
# Gene Variation Type Significance SNP ID Assembly Location
1 EYA4 EYA4, 4,846-BP DEL deletion Pathogenic
2 EYA4 NM_004100.4(EYA4): c.1845C> T (p.Asn615=) single nucleotide variant Benign rs142721902 GRCh37 Chromosome 6, 133849868: 133849868
3 EYA4 NM_004100.4(EYA4): c.1845C> T (p.Asn615=) single nucleotide variant Benign rs142721902 GRCh38 Chromosome 6, 133528730: 133528730
4 EYA4 NM_004100.4(EYA4): c.103C> T (p.Leu35=) single nucleotide variant Benign rs35562371 GRCh37 Chromosome 6, 133767787: 133767787
5 EYA4 NM_004100.4(EYA4): c.103C> T (p.Leu35=) single nucleotide variant Benign rs35562371 GRCh38 Chromosome 6, 133446649: 133446649
6 EYA4 NM_004100.4(EYA4): c.111T> C (p.Ser37=) single nucleotide variant Benign rs35863035 GRCh37 Chromosome 6, 133767795: 133767795
7 EYA4 NM_004100.4(EYA4): c.111T> C (p.Ser37=) single nucleotide variant Benign rs35863035 GRCh38 Chromosome 6, 133446657: 133446657
8 EYA4 NM_004100.4(EYA4): c.744A> G (p.Ser248=) single nucleotide variant Likely benign rs397516879 GRCh37 Chromosome 6, 133785936: 133785936
9 EYA4 NM_004100.4(EYA4): c.744A> G (p.Ser248=) single nucleotide variant Likely benign rs397516879 GRCh38 Chromosome 6, 133464798: 133464798
10 EYA4 NM_004100.4(EYA4): c.783G> A (p.Thr261=) single nucleotide variant Benign/Likely benign rs17854076 GRCh37 Chromosome 6, 133785975: 133785975
11 EYA4 NM_004100.4(EYA4): c.783G> A (p.Thr261=) single nucleotide variant Benign/Likely benign rs17854076 GRCh38 Chromosome 6, 133464837: 133464837
12 EYA4 NM_004100.4(EYA4): c.905G> A (p.Gly302Asp) single nucleotide variant Benign rs75133151 GRCh37 Chromosome 6, 133789804: 133789804
13 EYA4 NM_004100.4(EYA4): c.905G> A (p.Gly302Asp) single nucleotide variant Benign rs75133151 GRCh38 Chromosome 6, 133468666: 133468666
14 EYA4 NM_004100.4(EYA4): c.263C> G (p.Pro88Arg) single nucleotide variant Uncertain significance rs727503050 GRCh37 Chromosome 6, 133769303: 133769303
15 EYA4 NM_004100.4(EYA4): c.263C> G (p.Pro88Arg) single nucleotide variant Uncertain significance rs727503050 GRCh38 Chromosome 6, 133448165: 133448165
16 EYA4 NM_004100.4(EYA4): c.866C> T (p.Thr289Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41286200 GRCh37 Chromosome 6, 133789765: 133789765
17 EYA4 NM_004100.4(EYA4): c.866C> T (p.Thr289Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41286200 GRCh38 Chromosome 6, 133468627: 133468627
18 EYA4 NM_004100.4(EYA4): c.1109G> A (p.Arg370His) single nucleotide variant Conflicting interpretations of pathogenicity rs143936434 GRCh37 Chromosome 6, 133804171: 133804171
19 EYA4 NM_004100.4(EYA4): c.1109G> A (p.Arg370His) single nucleotide variant Conflicting interpretations of pathogenicity rs143936434 GRCh38 Chromosome 6, 133483033: 133483033
20 EYA4 NM_004100.4(EYA4): c.1418G> T (p.Gly473Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146977269 GRCh38 Chromosome 6, 133512955: 133512955
21 EYA4 NM_004100.4(EYA4): c.1418G> T (p.Gly473Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146977269 GRCh37 Chromosome 6, 133834093: 133834093
22 EYA4 NM_004100.4(EYA4): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs200593099 GRCh37 Chromosome 6, 133595920: 133595920
23 EYA4 NM_004100.4(EYA4): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs200593099 GRCh38 Chromosome 6, 133274782: 133274782
24 EYA4 NM_004100.4(EYA4): c.215A> G (p.Asn72Ser) single nucleotide variant Uncertain significance rs200688814 GRCh38 Chromosome 6, 133448117: 133448117
25 EYA4 NM_004100.4(EYA4): c.215A> G (p.Asn72Ser) single nucleotide variant Uncertain significance rs200688814 GRCh37 Chromosome 6, 133769255: 133769255
26 EYA4 NM_004100.4(EYA4): c.887C> T (p.Ser296Leu) single nucleotide variant Uncertain significance rs755455584 GRCh37 Chromosome 6, 133789786: 133789786
27 EYA4 NM_004100.4(EYA4): c.887C> T (p.Ser296Leu) single nucleotide variant Uncertain significance rs755455584 GRCh38 Chromosome 6, 133468648: 133468648
28 EYA4 NM_004100.4(EYA4): c.978C> G (p.Phe326Leu) single nucleotide variant Uncertain significance rs773095472 GRCh38 Chromosome 6, 133481470: 133481470
29 EYA4 NM_004100.4(EYA4): c.978C> G (p.Phe326Leu) single nucleotide variant Uncertain significance rs773095472 GRCh37 Chromosome 6, 133802608: 133802608
30 EYA4 NM_004100.4(EYA4): c.979G> A (p.Asp327Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144415484 GRCh38 Chromosome 6, 133481471: 133481471
31 EYA4 NM_004100.4(EYA4): c.979G> A (p.Asp327Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144415484 GRCh37 Chromosome 6, 133802609: 133802609
32 EYA4 NM_004100.4(EYA4): c.1035G> C (p.Arg345Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140170914 GRCh37 Chromosome 6, 133802665: 133802665
33 EYA4 NM_004100.4(EYA4): c.1035G> C (p.Arg345Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140170914 GRCh38 Chromosome 6, 133481527: 133481527
34 EYA4 NM_004100.4(EYA4): c.1603A> G (p.Ile535Val) single nucleotide variant Uncertain significance rs200300314 GRCh37 Chromosome 6, 133836560: 133836560
35 EYA4 NM_004100.4(EYA4): c.1603A> G (p.Ile535Val) single nucleotide variant Uncertain significance rs200300314 GRCh38 Chromosome 6, 133515422: 133515422
36 EYA4 NM_004100.4(EYA4): c.277+9G> A single nucleotide variant Benign rs145320803 GRCh37 Chromosome 6, 133769326: 133769326
37 EYA4 NM_004100.4(EYA4): c.277+9G> A single nucleotide variant Benign rs145320803 GRCh38 Chromosome 6, 133448188: 133448188
38 EYA4 NM_004100.4(EYA4): c.641C> A (p.Pro214Gln) single nucleotide variant Uncertain significance rs878854624 GRCh38 Chromosome 6, 133462681: 133462681
39 EYA4 NM_004100.4(EYA4): c.641C> A (p.Pro214Gln) single nucleotide variant Uncertain significance rs878854624 GRCh37 Chromosome 6, 133783819: 133783819
40 EYA4 NM_004100.4(EYA4): c.971-7T> C single nucleotide variant Likely benign rs764351261 GRCh37 Chromosome 6, 133802594: 133802594
41 EYA4 NM_004100.4(EYA4): c.971-7T> C single nucleotide variant Likely benign rs764351261 GRCh38 Chromosome 6, 133481456: 133481456
42 EYA4 NM_004100.4(EYA4): c.987G> T (p.Met329Ile) single nucleotide variant Uncertain significance rs146144708 GRCh37 Chromosome 6, 133802617: 133802617
43 EYA4 NM_004100.4(EYA4): c.987G> T (p.Met329Ile) single nucleotide variant Uncertain significance rs146144708 GRCh38 Chromosome 6, 133481479: 133481479
44 EYA4 NM_004100.4(EYA4): c.1671G> A (p.Ala557=) single nucleotide variant Likely benign rs768995654 GRCh37 Chromosome 6, 133844248: 133844248
45 EYA4 NM_004100.4(EYA4): c.1671G> A (p.Ala557=) single nucleotide variant Likely benign rs768995654 GRCh38 Chromosome 6, 133523110: 133523110
46 EYA4 NM_004100.4(EYA4): c.1773G> A (p.Arg591=) single nucleotide variant Likely benign rs772266373 GRCh37 Chromosome 6, 133846326: 133846326
47 EYA4 NM_004100.4(EYA4): c.1773G> A (p.Arg591=) single nucleotide variant Likely benign rs772266373 GRCh38 Chromosome 6, 133525188: 133525188
48 EYA4 NM_172105.3(EYA4): c.1107+10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs752586864 GRCh38 Chromosome 6, 133481609: 133481609
49 EYA4 NM_172105.3(EYA4): c.1107+10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs752586864 GRCh37 Chromosome 6, 133802747: 133802747
50 EYA4 NM_004100.4(EYA4): c.707A> G (p.Tyr236Cys) single nucleotide variant Uncertain significance rs1060502993 GRCh37 Chromosome 6, 133783885: 133783885

Expression for Cardiomyopathy, Dilated, 1j

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

Pathways for Cardiomyopathy, Dilated, 1j

GO Terms for Cardiomyopathy, Dilated, 1j

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