CMD1J
MCID: CRD102
MIFTS: 41

Cardiomyopathy, Dilated, 1j (CMD1J)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1j

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1j:

Name: Cardiomyopathy, Dilated, 1j 56 13 71
Dilated Cardiomyopathy 1j 12 29 6 15
Cmd1j 56 12 73
Sensorineural Hearing Loss with Dilated Cardiomyopathy 12 58
Neurosensory Hearing Loss with Dilated Cardiomyopathy 12 58
Sensorineural Deafness with Dilated Cardiomyopathy 12 58
Neurosensory Deafness with Dilated Cardiomyopathy 12 58
Cardiomyopathy, Dilated, with Sensorineural Hearing Loss, Autosomal Dominant 56
Autosomal Dominant Dilated Cardiomyopathy with Sensorineural Hearing Loss 12
Cardiomyopathy Dilated with Sensorineural Hearing Loss Autosomal Dominant 73
Cardiomyopathy, Dilated, Type 1j 39
Cardiomyopathy, Dilated 1j 73

Characteristics:

Orphanet epidemiological data:

58
sensorineural deafness with dilated cardiomyopathy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: adult;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
cardiomyopathy, dilated, 1j:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110440
OMIM 56 605362
OMIM Phenotypic Series 56 PS115200
MeSH 43 D002311
Orphanet 58 ORPHA217622
MedGen 41 C1854368
UMLS 71 C1854368

Summaries for Cardiomyopathy, Dilated, 1j

UniProtKB/Swiss-Prot : 73 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 atrial standstill 1 and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. An important gene associated with Cardiomyopathy, Dilated, 1j is EYA4 (EYA Transcriptional Coactivator And Phosphatase 4), and among its related pathways/superpathways is DNA Double Strand Break Response. Affiliated tissues include heart and bone, 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.

More information from OMIM: 605362 PS115200

Related Diseases for Cardiomyopathy, Dilated, 1j

Diseases in the Rare Cardiomyopathy family:

Cardiomyopathy, Dilated, 1a Cardiomyopathy, Dilated, 3b
Cardiomyopathy, Dilated, 1b Cardiomyopathy, Dilated, 1e
Cardiomyopathy, Dilated, 1d Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1h Cardiomyopathy, Dilated, 1i
Cardiomyopathy, Dilated, 1j Cardiomyopathy, Dilated, 1k
Cardiomyopathy, Dilated, 1l Cardiomyopathy, Dilated, 1m
Cardiomyopathy, Dilated, 1o Cardiomyopathy, Dilated, 1p
Cardiomyopathy, Dilated, 1q Cardiomyopathy, Dilated, 1w
Cardiomyopathy, Dilated, 1x Cardiomyopathy, Dilated, 1z
Cardiomyopathy, Dilated, 2a Cardiomyopathy, Dilated, 1bb
Cardiomyopathy, Dilated, 1cc Cardiomyopathy, Dilated, 1dd
Cardiomyopathy, Dilated, 1ee Cardiomyopathy, Dilated, 1ff
Cardiomyopathy, Dilated, 1r Cardiomyopathy, Dilated, 1gg
Cardiomyopathy, Dilated, 1u Cardiomyopathy, Dilated, 1v
Cardiomyopathy, Dilated, 1hh Cardiomyopathy, Dilated, 2b
Cardiomyopathy, Dilated, 1ii Cardiomyopathy, Dilated, 1jj
Cardiomyopathy, Dilated, 1kk Cardiomyopathy, Dilated, 1nn
Cardiomyopathy, Dilated, 2c Autoimmune Cardiomyopathy
Dilated Cardiomyopathy 1t Dilated Cardiomyopathy
Lmna-Related Dilated Cardiomyopathy Cardiomyopathy Due to Anthracyclines

Diseases related to Cardiomyopathy, Dilated, 1j via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 atrial standstill 1 10.2
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
3 sensorineural hearing loss 10.2
4 dilated cardiomyopathy 10.2
5 deafness, autosomal dominant 10 9.9 EYA4 EYA1
6 auditory system disease 9.9 FOXI1 EYA4
7 ear malformation 9.8 FOXI1 EYA1
8 autosomal dominant nonsyndromic deafness 9.7 EYA4 EYA1
9 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 FOXI1 EYA1
10 malignant peripheral nerve sheath tumor 9.7 EYA4 EYA3 EYA1
11 rare genetic deafness 9.6 EYA4 EYA1
12 nonsyndromic deafness 9.5 FOXI1 EYA4 EYA1
13 branchiootorenal syndrome 9.3 FOXI1 EYA4 EYA3 EYA1
14 branchiootic syndrome 9.3 FOXI1 EYA4 EYA3 EYA1

Graphical network of the top 20 diseases related to Cardiomyopathy, Dilated, 1j:



Diseases related to Cardiomyopathy, Dilated, 1j

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1j

Human phenotypes related to Cardiomyopathy, Dilated, 1j:

58 31 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 congestive heart failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0001635
3 dilated cardiomyopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0001644
4 abnormal cardiac ventricular function 58 31 hallmark (90%) Very frequent (99-80%) HP:0030872
5 recurrent infections of the middle ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0040268
6 sudden cardiac death 31 HP:0001645
7 sensorineural hearing impairment 31 HP:0000407
8 left ventricular dysfunction 31 HP:0005162

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
sudden death
left ventricular dysfunction
progressive heart failure
left ventricular dilation
hypertrophic myocytes with enlarged hyperchromatic nuclei
more
Head And Neck Ears:
hearing loss, sensorineural, postlingual

Clinical features from OMIM:

605362

GenomeRNAi Phenotypes related to Cardiomyopathy, Dilated, 1j according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.26 EYA1
2 Increased Nanog expression GR00371-A-5 9.26 EYA1 EYA3 EYA4
3 Increased viability GR00386-A-1 9.1 DMRTA1 EYA3 EYA4 FOXI1 RIPPLY3 TCF21

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.72 EYA1 EYA4 FOXI1 RIPPLY3 TCF21
2 endocrine/exocrine gland MP:0005379 9.65 DMRTA1 EYA1 EYA4 RIPPLY3 TCF21
3 hearing/vestibular/ear MP:0005377 9.46 EYA1 EYA3 EYA4 FOXI1
4 renal/urinary system MP:0005367 9.26 EYA1 EYA3 FOXI1 TCF21
5 reproductive system MP:0005389 9.02 DMRTA1 EYA1 EYA4 FOXI1 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

Anatomical Context for Cardiomyopathy, Dilated, 1j

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

40
Heart, Bone

Publications for Cardiomyopathy, Dilated, 1j

Articles related to Cardiomyopathy, Dilated, 1j:

# Title Authors PMID Year
1
Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24. 61 56 6
10769282 2000
2
Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. 56 6
15735644 2005
3
Dilated Cardiomyopathy Overview 6
20301486 2007
4
Gene symbol: CMD1J. Disease: Dilated cardiomyopathy. 61
16156023 2005
5
Gene symbol: CMD1J. Disease: SensoriNeural Hearing Loss (SNHL). 61
16156022 2005

Variations for Cardiomyopathy, Dilated, 1j

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

6 (show top 50) (show all 67) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EYA4 EYA4, 4,846-BP DELdeletion Pathogenic 6238
2 EYA4 NM_004100.5(EYA4):c.1221_1225del (p.Arg408fs)deletion Pathogenic 572508 rs1562498114 6:133827273-133827277 6:133506135-133506139
3 EYA4 NM_004100.5(EYA4):c.415T>A (p.Ser139Thr)SNV Conflicting interpretations of pathogenicity 654464 6:133782296-133782296 6:133461158-133461158
4 EYA4 NM_004100.5(EYA4):c.979G>A (p.Asp327Asn)SNV Conflicting interpretations of pathogenicity 191664 rs144415484 6:133802609-133802609 6:133481471-133481471
5 EYA4 NM_004100.5(EYA4):c.1109G>A (p.Arg370His)SNV Conflicting interpretations of pathogenicity 163451 rs143936434 6:133804171-133804171 6:133483033-133483033
6 EYA4 NM_004100.5(EYA4):c.987G>T (p.Met329Ile)SNV Conflicting interpretations of pathogenicity 239632 rs146144708 6:133802617-133802617 6:133481479-133481479
7 EYA4 NM_004100.5(EYA4):c.263C>G (p.Pro88Arg)SNV Uncertain significance 163443 rs727503050 6:133769303-133769303 6:133448165-133448165
8 EYA4 NM_004100.5(EYA4):c.641C>A (p.Pro214Gln)SNV Uncertain significance 239630 rs878854624 6:133783819-133783819 6:133462681-133462681
9 EYA4 NM_004100.5(EYA4):c.44C>T (p.Thr15Met)SNV Uncertain significance 566153 rs769070323 6:133703540-133703540 6:133382402-133382402
10 EYA4 NM_004100.5(EYA4):c.172C>A (p.Leu58Ile)SNV Uncertain significance 579402 rs1562431794 6:133767856-133767856 6:133446718-133446718
11 EYA4 NM_004100.5(EYA4):c.1096A>G (p.Ser366Gly)SNV Uncertain significance 574928 rs1562471411 6:133802726-133802726 6:133481588-133481588
12 EYA4 NM_004100.5(EYA4):c.152C>T (p.Ser51Phe)SNV Uncertain significance 579330 rs542906126 6:133767836-133767836 6:133446698-133446698
13 EYA4 NM_004100.5(EYA4):c.209-10C>ASNV Uncertain significance 567220 rs1562433382 6:133769239-133769239 6:133448101-133448101
14 EYA4 NM_004100.5(EYA4):c.970+6G>TSNV Uncertain significance 574677 rs753123820 6:133789875-133789875 6:133468737-133468737
15 EYA4 NM_004100.5(EYA4):c.683C>T (p.Thr228Ile)SNV Uncertain significance 581663 rs747533734 6:133783861-133783861 6:133462723-133462723
16 EYA4 NM_004100.5(EYA4):c.1803T>G (p.Ile601Met)SNV Uncertain significance 465984 rs1554276013 6:133846356-133846356 6:133525218-133525218
17 EYA4 NM_004100.5(EYA4):c.89T>A (p.Met30Lys)SNV Uncertain significance 518967 rs1554259054 6:133767773-133767773 6:133446635-133446635
18 EYA4 NM_004100.5(EYA4):c.5A>G (p.Glu2Gly)SNV Uncertain significance 534390 rs780081930 6:133595923-133595923 6:133274785-133274785
19 EYA4 NM_004100.5(EYA4):c.955C>G (p.Leu319Val)SNV Uncertain significance 534389 rs370874438 6:133789854-133789854 6:133468716-133468716
20 EYA4 NM_004100.5(EYA4):c.1434G>T (p.Met478Ile)SNV Uncertain significance 534388 rs1187396214 6:133834109-133834109 6:133512971-133512971
21 EYA4 NM_004100.5(EYA4):c.1839+6C>TSNV Uncertain significance 534396 rs1554276050 6:133846398-133846398 6:133525260-133525260
22 EYA4 NM_004100.5(EYA4):c.790A>G (p.Ser264Gly)SNV Uncertain significance 534391 rs1392356186 6:133785982-133785982 6:133464844-133464844
23 EYA4 NM_004100.5(EYA4):c.1304A>G (p.Asp435Gly)SNV Uncertain significance 534386 rs977093056 6:133833881-133833881 6:133512743-133512743
24 EYA4 NM_004100.5(EYA4):c.1495G>A (p.Val499Ile)SNV Uncertain significance 534385 rs142122118 6:133834170-133834170 6:133513032-133513032
25 EYA4 NM_004100.5(EYA4):c.1643C>T (p.Thr548Met)SNV Uncertain significance 534387 rs1173190962 6:133844220-133844220 6:133523082-133523082
26 EYA4 NM_004100.5(EYA4):c.2T>C (p.Met1Thr)SNV Uncertain significance 191657 rs200593099 6:133595920-133595920 6:133274782-133274782
27 EYA4 NM_004100.5(EYA4):c.215A>G (p.Asn72Ser)SNV Uncertain significance 191658 rs200688814 6:133769255-133769255 6:133448117-133448117
28 EYA4 NM_004100.5(EYA4):c.887C>T (p.Ser296Leu)SNV Uncertain significance 191661 rs755455584 6:133789786-133789786 6:133468648-133468648
29 EYA4 NM_004100.5(EYA4):c.978C>G (p.Phe326Leu)SNV Uncertain significance 191663 rs773095472 6:133802608-133802608 6:133481470-133481470
30 EYA4 NM_004100.5(EYA4):c.1603A>G (p.Ile535Val)SNV Uncertain significance 191665 rs200300314 6:133836560-133836560 6:133515422-133515422
31 EYA4 NM_004100.5(EYA4):c.1685A>G (p.Tyr562Cys)SNV Uncertain significance 191666 rs199621266 6:133844262-133844262 6:133523124-133523124
32 EYA4 NM_004100.5(EYA4):c.707A>G (p.Tyr236Cys)SNV Uncertain significance 410657 rs1060502993 6:133783885-133783885 6:133462747-133462747
33 EYA4 NM_004100.5(EYA4):c.83+5A>GSNV Uncertain significance 410660 rs1060502995 6:133703584-133703584 6:133382446-133382446
34 EYA4 NM_004100.5(EYA4):c.313A>C (p.Ser105Arg)SNV Uncertain significance 410659 rs1060502994 6:133777729-133777729 6:133456591-133456591
35 EYA4 NM_004100.5(EYA4):c.30A>G (p.Gln10=)SNV Uncertain significance 410662 rs1060502996 6:133595948-133595948 6:133274810-133274810
36 EYA4 NM_004100.5(EYA4):c.59A>G (p.Asp20Gly)SNV Uncertain significance 410658 rs779385322 6:133703555-133703555 6:133382417-133382417
37 EYA4 NM_004100.5(EYA4):c.386G>T (p.Gly129Val)SNV Uncertain significance 465985 rs1554261713 6:133782267-133782267 6:133461129-133461129
38 EYA4 NM_004100.5(EYA4):c.523C>A (p.Pro175Thr)SNV Uncertain significance 465986 rs763350623 6:133783558-133783558 6:133462420-133462420
39 EYA4 NM_004100.5(EYA4):c.811C>G (p.Pro271Ala)SNV Uncertain significance 465990 rs752023028 6:133789710-133789710 6:133468572-133468572
40 EYA4 NC_000006.11:g.(?_133767748)_(133804273_?)deldeletion Uncertain significance 465981 6:133767748-133804273 6:133446610-133483135
41 EYA4 NM_004100.5(EYA4):c.949C>G (p.Pro317Ala)SNV Uncertain significance 465992 rs1554263071 6:133789848-133789848 6:133468710-133468710
42 EYA4 NM_004100.5(EYA4):c.83+6G>CSNV Uncertain significance 465991 rs200479266 6:133703585-133703585 6:133382447-133382447
43 EYA4 NM_004100.5(EYA4):c.478A>G (p.Met160Val)SNV Uncertain significance 662923 6:133783513-133783513 6:133462375-133462375
44 EYA4 NM_004100.5(EYA4):c.782C>T (p.Thr261Met)SNV Uncertain significance 644230 6:133785974-133785974 6:133464836-133464836
45 EYA4 NM_004100.5(EYA4):c.838C>A (p.Gln280Lys)SNV Uncertain significance 647153 6:133789737-133789737 6:133468599-133468599
46 EYA4 NM_004100.5(EYA4):c.874G>A (p.Ala292Thr)SNV Uncertain significance 647374 6:133789773-133789773 6:133468635-133468635
47 EYA4 NM_004100.5(EYA4):c.961A>G (p.Asn321Asp)SNV Uncertain significance 653594 6:133789860-133789860 6:133468722-133468722
48 EYA4 NM_004100.5(EYA4):c.994C>T (p.Pro332Ser)SNV Uncertain significance 639913 6:133802624-133802624 6:133481486-133481486
49 EYA4 NM_004100.5(EYA4):c.1263G>T (p.Leu421Phe)SNV Uncertain significance 665297 6:133827315-133827315 6:133506177-133506177
50 EYA4 NM_004100.5(EYA4):c.1358C>A (p.Thr453Asn)SNV Uncertain significance 657896 6:133834033-133834033 6:133512895-133512895

Expression for Cardiomyopathy, Dilated, 1j

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

Pathways for Cardiomyopathy, Dilated, 1j

Pathways related to Cardiomyopathy, Dilated, 1j according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.16 EYA4 EYA3 EYA1

GO Terms for Cardiomyopathy, Dilated, 1j

Cellular components related to Cardiomyopathy, Dilated, 1j according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.17 TCF21 RIPPLY3 FOXI1 EYA4 EYA3 EYA1

Biological processes related to Cardiomyopathy, Dilated, 1j according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.84 RIPPLY3 EYA4 EYA3 EYA1
2 cellular response to DNA damage stimulus GO:0006974 9.74 EYA4 EYA3 EYA1
3 DNA repair GO:0006281 9.7 EYA4 EYA3 EYA1
4 chromatin organization GO:0006325 9.69 EYA4 EYA3 EYA1
5 protein dephosphorylation GO:0006470 9.61 EYA4 EYA3 EYA1
6 double-strand break repair GO:0006302 9.56 EYA3 EYA1
7 inner ear morphogenesis GO:0042472 9.55 FOXI1 EYA1
8 peptidyl-tyrosine dephosphorylation GO:0035335 9.54 EYA4 EYA3 EYA1
9 anatomical structure development GO:0048856 9.5 EYA4 EYA3 EYA1
10 response to ionizing radiation GO:0010212 9.49 EYA3 EYA1
11 branching involved in ureteric bud morphogenesis GO:0001658 9.48 TCF21 EYA1
12 ureteric bud development GO:0001657 9.46 TCF21 EYA1
13 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.43 EYA4 EYA3 EYA1
14 pharyngeal system development GO:0060037 9.4 RIPPLY3 EYA1
15 positive regulation of DNA repair GO:0045739 9.33 EYA4 EYA3 EYA1
16 anatomical structure morphogenesis GO:0009653 9.26 FOXI1 EYA4 EYA3 EYA1
17 histone dephosphorylation GO:0016576 8.8 EYA4 EYA3 EYA1

Molecular functions related to Cardiomyopathy, Dilated, 1j according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine phosphatase activity GO:0004725 8.8 EYA4 EYA3 EYA1

Sources for Cardiomyopathy, Dilated, 1j

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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39 LOVD
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50 NDF-RT
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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