CMD1JJ
MCID: CRD149
MIFTS: 19

Cardiomyopathy, Dilated, 1jj (CMD1JJ)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1jj

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1jj:

Name: Cardiomyopathy, Dilated, 1jj 58 13 74
Dilated Cardiomyopathy 1jj 12 30 6
Cmd1jj 58 12 76
Cardiomyopathy, Dilated, Type 1jj 41
Cardiomyopathy, Dilated 1jj 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
cardiomyopathy, dilated, 1jj:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110438
OMIM 58 615235
MeSH 45 D002311
ICD10 34 I42.0
SNOMED-CT via HPO 70 195021004 263681008 399020009
UMLS 74 C3808935

Summaries for Cardiomyopathy, Dilated, 1jj

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, dilated 1JJ: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.

MalaCards based summary : Cardiomyopathy, Dilated, 1jj, is also known as dilated cardiomyopathy 1jj. An important gene associated with Cardiomyopathy, Dilated, 1jj is LAMA4 (Laminin Subunit Alpha 4). Affiliated tissues include heart and endothelial, and related phenotype is dilated cardiomyopathy.

Disease Ontology : 12 A dilated cardiomyopathy that has material basis in mutation in the LAMA4 gene on chromosome 6q21.

Description from OMIM: 615235

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1jj

Human phenotypes related to Cardiomyopathy, Dilated, 1jj:

33
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 33 HP:0001644

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
cardiomyopathy, dilated, severe
markedly decreased ejection fraction
loss of endothelial cells seen on myocardial biopsy

Clinical features from OMIM:

615235

Drugs & Therapeutics for Cardiomyopathy, Dilated, 1jj

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

Genetic Tests for Cardiomyopathy, Dilated, 1jj

Genetic tests related to Cardiomyopathy, Dilated, 1jj:

# Genetic test Affiliating Genes
1 Dilated Cardiomyopathy 1jj 30 LAMA4

Anatomical Context for Cardiomyopathy, Dilated, 1jj

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

42
Heart, Endothelial

Publications for Cardiomyopathy, Dilated, 1jj

Articles related to Cardiomyopathy, Dilated, 1jj:

# Title Authors Year
1
Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. ( 17646580 )
2007

Variations for Cardiomyopathy, Dilated, 1jj

UniProtKB/Swiss-Prot genetic disease variations for Cardiomyopathy, Dilated, 1jj:

76
# Symbol AA change Variation ID SNP ID
1 LAMA4 p.Pro950Leu VAR_069708

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

6 (show top 50) (show all 364)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMA4 NM_002290.4(LAMA4): c.1169-8C> G single nucleotide variant Benign rs73538515 GRCh37 Chromosome 6, 112496690: 112496690
2 LAMA4 NM_002290.4(LAMA4): c.1169-8C> G single nucleotide variant Benign rs73538515 GRCh38 Chromosome 6, 112175488: 112175488
3 LAMA4 NM_002290.4(LAMA4): c.1277G> A (p.Arg426His) single nucleotide variant Uncertain significance rs369658574 GRCh37 Chromosome 6, 112496574: 112496574
4 LAMA4 NM_002290.4(LAMA4): c.1277G> A (p.Arg426His) single nucleotide variant Uncertain significance rs369658574 GRCh38 Chromosome 6, 112175372: 112175372
5 LAMA4 NM_002290.4(LAMA4): c.1305C> T (p.Leu435=) single nucleotide variant Benign/Likely benign rs3752580 GRCh37 Chromosome 6, 112496546: 112496546
6 LAMA4 NM_002290.4(LAMA4): c.1305C> T (p.Leu435=) single nucleotide variant Benign/Likely benign rs3752580 GRCh38 Chromosome 6, 112175344: 112175344
7 LAMA4 NM_002290.4(LAMA4): c.1336+4G> T single nucleotide variant Benign rs6917763 GRCh37 Chromosome 6, 112496511: 112496511
8 LAMA4 NM_002290.4(LAMA4): c.1336+4G> T single nucleotide variant Benign rs6917763 GRCh38 Chromosome 6, 112175309: 112175309
9 LAMA4 NM_002290.4(LAMA4): c.1369C> G (p.His457Asp) single nucleotide variant Uncertain significance rs151119304 GRCh37 Chromosome 6, 112493974: 112493974
10 LAMA4 NM_002290.4(LAMA4): c.1369C> G (p.His457Asp) single nucleotide variant Uncertain significance rs151119304 GRCh38 Chromosome 6, 112172772: 112172772
11 LAMA4 NM_002290.4(LAMA4): c.1454T> A (p.Leu485His) single nucleotide variant Conflicting interpretations of pathogenicity rs3752579 GRCh37 Chromosome 6, 112493889: 112493889
12 LAMA4 NM_002290.4(LAMA4): c.1454T> A (p.Leu485His) single nucleotide variant Conflicting interpretations of pathogenicity rs3752579 GRCh38 Chromosome 6, 112172687: 112172687
13 LAMA4 NM_002290.4(LAMA4): c.1471T> C (p.Tyr491His) single nucleotide variant Benign rs1050348 GRCh37 Chromosome 6, 112493872: 112493872
14 LAMA4 NM_002290.4(LAMA4): c.1471T> C (p.Tyr491His) single nucleotide variant Benign rs1050348 GRCh38 Chromosome 6, 112172670: 112172670
15 LAMA4 NM_002290.4(LAMA4): c.1612C> T (p.Arg538Cys) single nucleotide variant Likely benign rs138153075 GRCh37 Chromosome 6, 112486397: 112486397
16 LAMA4 NM_002290.4(LAMA4): c.1612C> T (p.Arg538Cys) single nucleotide variant Likely benign rs138153075 GRCh38 Chromosome 6, 112165195: 112165195
17 LAMA4 NM_002290.4(LAMA4): c.1653G> A (p.Ala551=) single nucleotide variant Likely benign rs150809897 GRCh37 Chromosome 6, 112480077: 112480077
18 LAMA4 NM_002290.4(LAMA4): c.1653G> A (p.Ala551=) single nucleotide variant Likely benign rs150809897 GRCh38 Chromosome 6, 112158875: 112158875
19 LAMA4 NM_002290.4(LAMA4): c.196-12T> C single nucleotide variant Benign rs78871662 GRCh37 Chromosome 6, 112537682: 112537682
20 LAMA4 NM_002290.4(LAMA4): c.196-12T> C single nucleotide variant Benign rs78871662 GRCh38 Chromosome 6, 112216481: 112216481
21 LAMA4 NM_002290.4(LAMA4): c.196-9C> T single nucleotide variant Benign/Likely benign rs144850734 GRCh37 Chromosome 6, 112537679: 112537679
22 LAMA4 NM_002290.4(LAMA4): c.196-9C> T single nucleotide variant Benign/Likely benign rs144850734 GRCh38 Chromosome 6, 112216478: 112216478
23 LAMA4 NM_002290.4(LAMA4): c.2069G> A (p.Arg690His) single nucleotide variant Uncertain significance rs397516723 GRCh37 Chromosome 6, 112471796: 112471796
24 LAMA4 NM_002290.4(LAMA4): c.2069G> A (p.Arg690His) single nucleotide variant Uncertain significance rs397516723 GRCh38 Chromosome 6, 112150594: 112150594
25 LAMA4 NM_002290.4(LAMA4): c.2150G> A (p.Arg717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs146868519 GRCh37 Chromosome 6, 112471715: 112471715
26 LAMA4 NM_002290.4(LAMA4): c.2150G> A (p.Arg717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs146868519 GRCh38 Chromosome 6, 112150513: 112150513
27 LAMA4 NM_001105206.2(LAMA4): c.264C> T (p.Ser88=) single nucleotide variant Benign/Likely benign rs201152817 GRCh37 Chromosome 6, 112537602: 112537602
28 LAMA4 NM_001105206.2(LAMA4): c.264C> T (p.Ser88=) single nucleotide variant Benign/Likely benign rs201152817 GRCh38 Chromosome 6, 112216401: 112216401
29 LAMA4 NM_002290.4(LAMA4): c.2789A> G (p.Glu930Gly) single nucleotide variant Benign/Likely benign rs35605307 GRCh37 Chromosome 6, 112462563: 112462563
30 LAMA4 NM_002290.4(LAMA4): c.2789A> G (p.Glu930Gly) single nucleotide variant Benign/Likely benign rs35605307 GRCh38 Chromosome 6, 112141361: 112141361
31 LAMA4 NM_002290.4(LAMA4): c.279C> T (p.Asp93=) single nucleotide variant Likely benign rs397516726 GRCh37 Chromosome 6, 112537587: 112537587
32 LAMA4 NM_002290.4(LAMA4): c.279C> T (p.Asp93=) single nucleotide variant Likely benign rs397516726 GRCh38 Chromosome 6, 112216386: 112216386
33 LAMA4 NM_002290.4(LAMA4): c.280G> A (p.Gly94Ser) single nucleotide variant Benign rs35349917 GRCh37 Chromosome 6, 112537586: 112537586
34 LAMA4 NM_002290.4(LAMA4): c.280G> A (p.Gly94Ser) single nucleotide variant Benign rs35349917 GRCh38 Chromosome 6, 112216385: 112216385
35 LAMA4 NM_002290.4(LAMA4): c.297+8G> A single nucleotide variant Benign/Likely benign rs200595773 GRCh37 Chromosome 6, 112537561: 112537561
36 LAMA4 NM_002290.4(LAMA4): c.297+8G> A single nucleotide variant Benign/Likely benign rs200595773 GRCh38 Chromosome 6, 112216360: 112216360
37 LAMA4 NM_002290.4(LAMA4): c.3218G> A (p.Arg1073Gln) single nucleotide variant Benign rs41289902 GRCh37 Chromosome 6, 112460365: 112460365
38 LAMA4 NM_002290.4(LAMA4): c.3218G> A (p.Arg1073Gln) single nucleotide variant Benign rs41289902 GRCh38 Chromosome 6, 112139163: 112139163
39 LAMA4 NM_002290.4(LAMA4): c.3262-15C> T single nucleotide variant Benign rs2032568 GRCh37 Chromosome 6, 112457471: 112457471
40 LAMA4 NM_002290.4(LAMA4): c.3262-15C> T single nucleotide variant Benign rs2032568 GRCh38 Chromosome 6, 112136269: 112136269
41 LAMA4 NM_002290.4(LAMA4): c.3328G> A (p.Gly1110Ser) single nucleotide variant Benign rs2032567 GRCh37 Chromosome 6, 112457390: 112457390
42 LAMA4 NM_002290.4(LAMA4): c.3328G> A (p.Gly1110Ser) single nucleotide variant Benign rs2032567 GRCh38 Chromosome 6, 112136188: 112136188
43 LAMA4 NM_002290.4(LAMA4): c.3335C> G (p.Pro1112Arg) single nucleotide variant Benign rs1050349 GRCh37 Chromosome 6, 112457383: 112457383
44 LAMA4 NM_002290.4(LAMA4): c.3335C> G (p.Pro1112Arg) single nucleotide variant Benign rs1050349 GRCh38 Chromosome 6, 112136181: 112136181
45 LAMA4 NM_002290.4(LAMA4): c.3813G> A (p.Gly1271=) single nucleotide variant Conflicting interpretations of pathogenicity rs141988342 GRCh37 Chromosome 6, 112453955: 112453955
46 LAMA4 NM_002290.4(LAMA4): c.3813G> A (p.Gly1271=) single nucleotide variant Conflicting interpretations of pathogenicity rs141988342 GRCh38 Chromosome 6, 112132753: 112132753
47 LAMA4 NM_002290.4(LAMA4): c.3922G> A (p.Val1308Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs70940811 GRCh37 Chromosome 6, 112452195: 112452195
48 LAMA4 NM_002290.4(LAMA4): c.3922G> A (p.Val1308Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs70940811 GRCh38 Chromosome 6, 112130993: 112130993
49 LAMA4 NM_002290.4(LAMA4): c.4044C> T (p.Phe1348=) single nucleotide variant Benign rs34753919 GRCh37 Chromosome 6, 112451146: 112451146
50 LAMA4 NM_002290.4(LAMA4): c.4044C> T (p.Phe1348=) single nucleotide variant Benign rs34753919 GRCh38 Chromosome 6, 112129944: 112129944

Expression for Cardiomyopathy, Dilated, 1jj

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

Pathways for Cardiomyopathy, Dilated, 1jj

GO Terms for Cardiomyopathy, Dilated, 1jj

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