CMD1J
MCID: CRD102
MIFTS: 32

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 57 13 72
Dilated Cardiomyopathy 1j 12 29 6 15
Cmd1j 57 12 74
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 74
Cardiomyopathy, Dilated, Type 1j 40
Cardiomyopathy, Dilated 1j 74

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:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110440
MeSH 44 D002311
Orphanet 59 ORPHA217622
MedGen 42 C1854368
UMLS 72 C1854368

Summaries for Cardiomyopathy, Dilated, 1j

UniProtKB/Swiss-Prot : 74 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). 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
Cardiomyopathy Due to Anthracyclines

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

# 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 9.2 TCF21 EYA4

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:

59 32 (show all 8)
# 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 sudden cardiac death 32 HP:0001645
7 sensorineural hearing impairment 32 HP:0000407
8 left ventricular dysfunction 32 HP:0005162

Symptoms via clinical synopsis from OMIM:

57
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

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

46
# 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 29 EYA4

Anatomical Context for Cardiomyopathy, Dilated, 1j

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

41
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. 38 8 71
10769282 2000
2
Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. 8 71
15735644 2005
3
Dilated Cardiomyopathy Overview 71
20301486 2007
4
Gene symbol: CMD1J. Disease: Dilated cardiomyopathy. 38
16156023 2005
5
Gene symbol: CMD1J. Disease: SensoriNeural Hearing Loss (SNHL). 38
16156022 2005

Variations for Cardiomyopathy, Dilated, 1j

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

6 (show top 50) (show all 91)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EYA4 EYA4, 4,846-BP DEL deletion Pathogenic
2 EYA4 NM_004100.5(EYA4): c.1221_1225del (p.Arg408fs) deletion Pathogenic 6:133827273-133827277 6:133506135-133506139
3 EYA4 NM_004100.5(EYA4): c.866C> T (p.Thr289Met) single nucleotide variant Conflicting interpretations of pathogenicity rs41286200 6:133789765-133789765 6:133468627-133468627
4 EYA4 NM_004100.5(EYA4): c.1109G> A (p.Arg370His) single nucleotide variant Conflicting interpretations of pathogenicity rs143936434 6:133804171-133804171 6:133483033-133483033
5 EYA4 NM_004100.5(EYA4): c.1418G> T (p.Gly473Val) single nucleotide variant Conflicting interpretations of pathogenicity rs146977269 6:133834093-133834093 6:133512955-133512955
6 EYA4 NM_004100.5(EYA4): c.979G> A (p.Asp327Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs144415484 6:133802609-133802609 6:133481471-133481471
7 EYA4 NM_004100.5(EYA4): c.1035G> C (p.Arg345Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs140170914 6:133802665-133802665 6:133481527-133481527
8 EYA4 NM_004100.5(EYA4): c.1107+10C> G single nucleotide variant Conflicting interpretations of pathogenicity rs752586864 6:133802747-133802747 6:133481609-133481609
9 EYA4 NM_004100.5(EYA4): c.44C> T (p.Thr15Met) single nucleotide variant Uncertain significance 6:133703540-133703540 6:133382402-133382402
10 EYA4 NM_004100.5(EYA4): c.172C> A (p.Leu58Ile) single nucleotide variant Uncertain significance 6:133767856-133767856 6:133446718-133446718
11 EYA4 NM_004100.5(EYA4): c.1096A> G (p.Ser366Gly) single nucleotide variant Uncertain significance 6:133802726-133802726 6:133481588-133481588
12 EYA4 NM_004100.5(EYA4): c.152C> T (p.Ser51Phe) single nucleotide variant Uncertain significance 6:133767836-133767836 6:133446698-133446698
13 EYA4 NM_004100.5(EYA4): c.209-10C> A single nucleotide variant Uncertain significance 6:133769239-133769239 6:133448101-133448101
14 EYA4 NM_004100.5(EYA4): c.970+6G> T single nucleotide variant Uncertain significance 6:133789875-133789875 6:133468737-133468737
15 EYA4 NM_004100.5(EYA4): c.683C> T (p.Thr228Ile) single nucleotide variant Uncertain significance 6:133783861-133783861 6:133462723-133462723
16 EYA4 NM_004100.5(EYA4): c.1603A> G (p.Ile535Val) single nucleotide variant Uncertain significance rs200300314 6:133836560-133836560 6:133515422-133515422
17 EYA4 NM_004100.5(EYA4): c.1685A> G (p.Tyr562Cys) single nucleotide variant Uncertain significance rs199621266 6:133844262-133844262 6:133523124-133523124
18 EYA4 NM_004100.5(EYA4): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs200593099 6:133595920-133595920 6:133274782-133274782
19 EYA4 NM_004100.5(EYA4): c.215A> G (p.Asn72Ser) single nucleotide variant Uncertain significance rs200688814 6:133769255-133769255 6:133448117-133448117
20 EYA4 NM_004100.5(EYA4): c.887C> T (p.Ser296Leu) single nucleotide variant Uncertain significance rs755455584 6:133789786-133789786 6:133468648-133468648
21 EYA4 NM_004100.5(EYA4): c.978C> G (p.Phe326Leu) single nucleotide variant Uncertain significance rs773095472 6:133802608-133802608 6:133481470-133481470
22 EYA4 NM_004100.5(EYA4): c.1639G> A (p.Val547Ile) single nucleotide variant Uncertain significance 6:133844216-133844216 6:133523078-133523078
23 EYA4 NM_004100.5(EYA4): c.806A> T (p.Asp269Val) single nucleotide variant Uncertain significance 6:133789705-133789705 6:133468567-133468567
24 EYA4 NM_004100.5(EYA4): c.1234A> T (p.Met412Leu) single nucleotide variant Uncertain significance 6:133827286-133827286 6:133506148-133506148
25 EYA4 NM_004100.5(EYA4): c.148A> T (p.Ser50Cys) single nucleotide variant Uncertain significance 6:133767832-133767832 6:133446694-133446694
26 EYA4 NM_004100.5(EYA4): c.251G> A (p.Ser84Asn) single nucleotide variant Uncertain significance 6:133769291-133769291 6:133448153-133448153
27 EYA4 NM_004100.5(EYA4): c.260C> T (p.Thr87Ile) single nucleotide variant Uncertain significance 6:133769300-133769300 6:133448162-133448162
28 EYA4 NM_004100.5(EYA4): c.349C> T (p.Leu117Phe) single nucleotide variant Uncertain significance 6:133777765-133777765 6:133456627-133456627
29 EYA4 NM_004100.5(EYA4): c.415T> A (p.Ser139Thr) single nucleotide variant Uncertain significance 6:133782296-133782296 6:133461158-133461158
30 EYA4 NM_004100.5(EYA4): c.478A> G (p.Met160Val) single nucleotide variant Uncertain significance 6:133783513-133783513 6:133462375-133462375
31 EYA4 NM_004100.5(EYA4): c.782C> T (p.Thr261Met) single nucleotide variant Uncertain significance 6:133785974-133785974 6:133464836-133464836
32 EYA4 NM_004100.5(EYA4): c.838C> A (p.Gln280Lys) single nucleotide variant Uncertain significance 6:133789737-133789737 6:133468599-133468599
33 EYA4 NM_004100.5(EYA4): c.874G> A (p.Ala292Thr) single nucleotide variant Uncertain significance 6:133789773-133789773 6:133468635-133468635
34 EYA4 NM_004100.5(EYA4): c.961A> G (p.Asn321Asp) single nucleotide variant Uncertain significance 6:133789860-133789860 6:133468722-133468722
35 EYA4 NM_004100.5(EYA4): c.994C> T (p.Pro332Ser) single nucleotide variant Uncertain significance 6:133802624-133802624 6:133481486-133481486
36 EYA4 NM_004100.5(EYA4): c.1263G> T (p.Leu421Phe) single nucleotide variant Uncertain significance 6:133827315-133827315 6:133506177-133506177
37 EYA4 NM_004100.5(EYA4): c.1358C> A (p.Thr453Asn) single nucleotide variant Uncertain significance 6:133834033-133834033 6:133512895-133512895
38 EYA4 NM_004100.5(EYA4): c.1379C> A (p.Ala460Glu) single nucleotide variant Uncertain significance 6:133834054-133834054 6:133512916-133512916
39 EYA4 NM_004100.5(EYA4): c.1502G> C (p.Gly501Ala) single nucleotide variant Uncertain significance 6:133836459-133836459 6:133515321-133515321
40 EYA4 NM_004100.5(EYA4): c.1633G> A (p.Val545Ile) single nucleotide variant Uncertain significance 6:133844210-133844210 6:133523072-133523072
41 EYA4 NM_004100.5(EYA4): c.1790T> C (p.Val597Ala) single nucleotide variant Uncertain significance 6:133846343-133846343 6:133525205-133525205
42 EYA4 NM_004100.5(EYA4): c.1828_1829delinsAA (p.Ala610Lys) indel Uncertain significance 6:133846381-133846382 6:133525243-133525244
43 EYA4 NM_004100.5(EYA4): c.277+3A> G single nucleotide variant Uncertain significance 6:133769320-133769320 6:133448182-133448182
44 EYA4 NM_004100.5(EYA4): c.30A> G (p.Gln10=) single nucleotide variant Uncertain significance rs1060502996 6:133595948-133595948 6:133274810-133274810
45 EYA4 NM_004100.5(EYA4): c.59A> G (p.Asp20Gly) single nucleotide variant Uncertain significance rs779385322 6:133703555-133703555 6:133382417-133382417
46 EYA4 NC_000006.11: g.(?_133767748)_(133804273_?)del deletion Uncertain significance 6:133767748-133804273 6:133446610-133483135
47 EYA4 NM_004100.5(EYA4): c.949C> G (p.Pro317Ala) single nucleotide variant Uncertain significance rs1554263071 6:133789848-133789848 6:133468710-133468710
48 EYA4 NM_004100.5(EYA4): c.83+6G> C single nucleotide variant Uncertain significance rs200479266 6:133703585-133703585 6:133382447-133382447
49 EYA4 NM_004100.5(EYA4): c.790A> G (p.Ser264Gly) single nucleotide variant Uncertain significance rs1392356186 6:133785982-133785982 6:133464844-133464844
50 EYA4 NM_004100.5(EYA4): c.1304A> G (p.Asp435Gly) single nucleotide variant Uncertain significance rs977093056 6:133833881-133833881 6:133512743-133512743

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

Sources for Cardiomyopathy, Dilated, 1j

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