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 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 16)
# 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 hereditary hearing loss and deafness 9.9 EYA4 EYA1
6 syndromic microphthalmia 9.9 EYA3 EYA1
7 auditory system disease 9.9 FOXI1 EYA4
8 ear malformation 9.8 FOXI1 EYA1
9 autosomal dominant nonsyndromic deafness 9.7 EYA4 EYA1
10 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.7 FOXI1 EYA1
11 deafness, autosomal dominant 10 9.7 EYA4 EYA3 EYA1
12 malignant peripheral nerve sheath tumor 9.6 EYA4 EYA3 EYA1
13 rare genetic deafness 9.6 EYA4 EYA1
14 branchiootorenal syndrome 1 9.4 RIPPLY3 EYA4 EYA3 EYA1
15 branchiootorenal syndrome 9.3 FOXI1 EYA4 EYA3 EYA1
16 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 sensorineural hearing impairment 31 HP:0000407
7 sudden cardiac death 31 HP:0001645
8 left ventricular dysfunction 31 HP:0005162

Symptoms via clinical synopsis from OMIM:

56
Cardiovascular Heart:
left ventricular dysfunction
sudden death
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 8.92 EYA1
2 Increased Nanog expression GR00371-A-5 8.92 EYA1 EYA3 EYA4

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 EYA4

Anatomical Context for Cardiomyopathy, Dilated, 1j

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

40
Heart

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 194) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EYA4 NM_004100.5(EYA4):c.1221_1225del (p.Arg408fs)deletion Pathogenic 572508 rs1562498114 6:133827273-133827277 6:133506135-133506139
2 EYA4 EYA4, 4,846-BP DELdeletion Pathogenic 6238
3 EYA4 NM_004100.5(EYA4):c.783G>A (p.Thr261=)SNV Conflicting interpretations of pathogenicity 44772 rs17854076 6:133785975-133785975 6:133464837-133464837
4 EYA4 NM_004100.5(EYA4):c.*2044A>GSNV Conflicting interpretations of pathogenicity 905648 6:133851987-133851987 6:133530849-133530849
5 EYA4 NM_004100.5(EYA4):c.866C>T (p.Thr289Met)SNV Conflicting interpretations of pathogenicity 163446 rs41286200 6:133789765-133789765 6:133468627-133468627
6 EYA4 NM_004100.5(EYA4):c.1418G>T (p.Gly473Val)SNV Conflicting interpretations of pathogenicity 178347 rs146977269 6:133834093-133834093 6:133512955-133512955
7 EYA4 NM_004100.5(EYA4):c.1739-64G>ASNV Conflicting interpretations of pathogenicity 163454 rs143208937 6:133846228-133846228 6:133525090-133525090
8 EYA4 NM_004100.5(EYA4):c.979G>A (p.Asp327Asn)SNV Conflicting interpretations of pathogenicity 191664 rs144415484 6:133802609-133802609 6:133481471-133481471
9 EYA4 NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)SNV Conflicting interpretations of pathogenicity 192118 rs140170914 6:133802665-133802665 6:133481527-133481527
10 EYA4 NM_004100.5(EYA4):c.1109G>A (p.Arg370His)SNV Conflicting interpretations of pathogenicity 163451 rs143936434 6:133804171-133804171 6:133483033-133483033
11 EYA4 NM_004100.5(EYA4):c.1617-11C>TSNV Conflicting interpretations of pathogenicity 227369 rs118166702 6:133844183-133844183 6:133523045-133523045
12 EYA4 NM_004100.5(EYA4):c.987G>T (p.Met329Ile)SNV Conflicting interpretations of pathogenicity 239632 rs146144708 6:133802617-133802617 6:133481479-133481479
13 EYA4 NM_004100.5(EYA4):c.899C>A (p.Ala300Asp)SNV Conflicting interpretations of pathogenicity 702485 6:133789798-133789798 6:133468660-133468660
14 EYA4 NM_004100.5(EYA4):c.*1820A>TSNV Conflicting interpretations of pathogenicity 903730 6:133851763-133851763 6:133530625-133530625
15 EYA4 NM_004100.5(EYA4):c.415T>A (p.Ser139Thr)SNV Conflicting interpretations of pathogenicity 654464 6:133782296-133782296 6:133461158-133461158
16 EYA4 NM_004100.5(EYA4):c.888G>A (p.Ser296=)SNV Conflicting interpretations of pathogenicity 355444 rs768010410 6:133789787-133789787 6:133468649-133468649
17 EYA4 NM_004100.5(EYA4):c.347C>T (p.Ala116Val)SNV Conflicting interpretations of pathogenicity 355443 rs747223436 6:133777763-133777763 6:133456625-133456625
18 EYA4 NM_004100.5(EYA4):c.1107+10C>GSNV Conflicting interpretations of pathogenicity 355446 rs752586864 6:133802747-133802747 6:133481609-133481609
19 EYA4 NM_004100.5(EYA4):c.*1350G>ASNV Conflicting interpretations of pathogenicity 355454 rs553570769 6:133851293-133851293 6:133530155-133530155
20 EYA4 NM_004100.5(EYA4):c.*2188T>ASNV Conflicting interpretations of pathogenicity 355465 rs376366555 6:133852131-133852131 6:133530993-133530993
21 EYA4 NM_004100.5(EYA4):c.*2588C>TSNV Conflicting interpretations of pathogenicity 355472 rs140401218 6:133852531-133852531 6:133531393-133531393
22 EYA4 NM_004100.5(EYA4):c.*2359C>TSNV Conflicting interpretations of pathogenicity 355468 rs547907467 6:133852302-133852302 6:133531164-133531164
23 EYA4 NM_004100.5(EYA4):c.*1905T>ASNV Conflicting interpretations of pathogenicity 355461 rs542036379 6:133851848-133851848 6:133530710-133530710
24 EYA4 NM_004100.5(EYA4):c.*2750C>ASNV Uncertain significance 355474 rs886061097 6:133852693-133852693 6:133531555-133531555
25 EYA4 NM_004100.5(EYA4):c.-408G>TSNV Uncertain significance 355436 rs886061085 6:133562545-133562545 6:133241407-133241407
26 EYA4 NM_004100.5(EYA4):c.1338A>G (p.Leu446=)SNV Uncertain significance 355447 rs200309400 6:133833915-133833915 6:133512777-133512777
27 EYA4 NM_004100.5(EYA4):c.182C>T (p.Thr61Ile)SNV Uncertain significance 355442 rs778473535 6:133767866-133767866 6:133446728-133446728
28 EYA4 NM_004100.5(EYA4):c.970+5A>GSNV Uncertain significance 355445 rs886061089 6:133789874-133789874 6:133468736-133468736
29 EYA4 NM_004100.5(EYA4):c.*333G>ASNV Uncertain significance 355449 rs746964933 6:133850276-133850276 6:133529138-133529138
30 EYA4 NM_004100.5(EYA4):c.*2759G>ASNV Uncertain significance 355475 rs886061098 6:133852702-133852702 6:133531564-133531564
31 EYA4 NM_004100.5(EYA4):c.*3267C>ASNV Uncertain significance 355478 rs886061099 6:133853210-133853210 6:133532072-133532072
32 EYA4 NM_004100.5(EYA4):c.*2660T>CSNV Uncertain significance 355473 rs886061096 6:133852603-133852603 6:133531465-133531465
33 EYA4 NM_004100.5(EYA4):c.*1513T>CSNV Uncertain significance 355456 rs886061092 6:133851456-133851456 6:133530318-133530318
34 EYA4 NM_004100.5(EYA4):c.*2269C>TSNV Uncertain significance 355466 rs533609774 6:133852212-133852212 6:133531074-133531074
35 EYA4 NM_004100.5(EYA4):c.*2360G>ASNV Uncertain significance 355469 rs886061094 6:133852303-133852303 6:133531165-133531165
36 EYA4 NM_004100.5(EYA4):c.*2511G>ASNV Uncertain significance 355471 rs560590444 6:133852454-133852454 6:133531316-133531316
37 EYA4 NM_004100.5(EYA4):c.*1744G>ASNV Uncertain significance 355458 rs542230437 6:133851687-133851687 6:133530549-133530549
38 EYA4 NM_004100.5(EYA4):c.*1812G>TSNV Uncertain significance 355459 rs555600336 6:133851755-133851755 6:133530617-133530617
39 EYA4 NM_004100.5(EYA4):c.*2010A>GSNV Uncertain significance 355462 rs886061093 6:133851953-133851953 6:133530815-133530815
40 EYA4 NM_004100.5(EYA4):c.550A>G (p.Thr184Ala)SNV Uncertain significance 264605 rs886039203 6:133783585-133783585 6:133462447-133462447
41 EYA4 NM_004100.5(EYA4):c.-430T>CSNV Uncertain significance 355435 rs886061084 6:133562523-133562523 6:133241385-133241385
42 EYA4 NM_004100.5(EYA4):c.-256C>TSNV Uncertain significance 355438 rs886061086 6:133562697-133562697 6:133241559-133241559
43 EYA4 NM_004100.5(EYA4):c.-124C>TSNV Uncertain significance 355440 rs886061088 6:133562829-133562829 6:133241691-133241691
44 EYA4 NM_004100.5(EYA4):c.478A>G (p.Met160Val)SNV Uncertain significance 662923 6:133783513-133783513 6:133462375-133462375
45 EYA4 NM_004100.5(EYA4):c.782C>T (p.Thr261Met)SNV Uncertain significance 644230 6:133785974-133785974 6:133464836-133464836
46 EYA4 NM_004100.5(EYA4):c.838C>A (p.Gln280Lys)SNV Uncertain significance 647153 6:133789737-133789737 6:133468599-133468599
47 EYA4 NM_004100.5(EYA4):c.874G>A (p.Ala292Thr)SNV Uncertain significance 647374 6:133789773-133789773 6:133468635-133468635
48 EYA4 NM_004100.5(EYA4):c.961A>G (p.Asn321Asp)SNV Uncertain significance 653594 6:133789860-133789860 6:133468722-133468722
49 EYA4 NM_004100.5(EYA4):c.994C>T (p.Pro332Ser)SNV Uncertain significance 639913 6:133802624-133802624 6:133481486-133481486
50 EYA4 NM_004100.5(EYA4):c.1263G>T (p.Leu421Phe)SNV Uncertain significance 665297 6:133827315-133827315 6:133506177-133506177

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 18)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.86 RIPPLY3 EYA4 EYA3 EYA1
2 cell differentiation GO:0030154 9.81 FOXI1 EYA4 EYA3 EYA1
3 cellular response to DNA damage stimulus GO:0006974 9.75 EYA4 EYA3 EYA1
4 DNA repair GO:0006281 9.71 EYA4 EYA3 EYA1
5 chromatin organization GO:0006325 9.7 EYA4 EYA3 EYA1
6 protein dephosphorylation GO:0006470 9.61 EYA4 EYA3 EYA1
7 double-strand break repair GO:0006302 9.57 EYA3 EYA1
8 inner ear morphogenesis GO:0042472 9.55 FOXI1 EYA1
9 peptidyl-tyrosine dephosphorylation GO:0035335 9.54 EYA4 EYA3 EYA1
10 anatomical structure development GO:0048856 9.5 EYA4 EYA3 EYA1
11 response to ionizing radiation GO:0010212 9.49 EYA3 EYA1
12 branching involved in ureteric bud morphogenesis GO:0001658 9.48 TCF21 EYA1
13 ureteric bud development GO:0001657 9.46 TCF21 EYA1
14 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.43 EYA4 EYA3 EYA1
15 pharyngeal system development GO:0060037 9.4 RIPPLY3 EYA1
16 positive regulation of DNA repair GO:0045739 9.33 EYA4 EYA3 EYA1
17 anatomical structure morphogenesis GO:0009653 9.26 FOXI1 EYA4 EYA3 EYA1
18 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 phosphoprotein phosphatase activity GO:0004721 9.13 EYA4 EYA3 EYA1
2 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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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