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

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 358)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMA4 NM_002290.4(LAMA4): c.2634C> T (p.Leu878=) single nucleotide variant Benign/Likely benign rs35772073 GRCh37 Chromosome 6, 112463333: 112463333
2 LAMA4 NM_002290.4(LAMA4): c.2634C> T (p.Leu878=) single nucleotide variant Benign/Likely benign rs35772073 GRCh38 Chromosome 6, 112142131: 112142131
3 LAMA4 NM_002290.4(LAMA4): c.2382G> A (p.Thr794=) single nucleotide variant Benign/Likely benign rs142559688 GRCh37 Chromosome 6, 112466086: 112466086
4 LAMA4 NM_002290.4(LAMA4): c.2382G> A (p.Thr794=) single nucleotide variant Benign/Likely benign rs142559688 GRCh38 Chromosome 6, 112144884: 112144884
5 LAMA4 NM_002290.4(LAMA4): c.1593G> A (p.Ala531=) single nucleotide variant Benign/Likely benign rs143587921 GRCh37 Chromosome 6, 112486416: 112486416
6 LAMA4 NM_002290.4(LAMA4): c.1593G> A (p.Ala531=) single nucleotide variant Benign/Likely benign rs143587921 GRCh38 Chromosome 6, 112165214: 112165214
7 LAMA4 NM_002290.4(LAMA4): c.195+144T> C single nucleotide variant Benign rs147118520 GRCh37 Chromosome 6, 112575014: 112575014
8 LAMA4 NM_002290.4(LAMA4): c.195+144T> C single nucleotide variant Benign rs147118520 GRCh38 Chromosome 6, 112253812: 112253812
9 LAMA4 NM_002290.4(LAMA4): c.3066C> T (p.Pro1022=) single nucleotide variant Likely benign rs146880158 GRCh37 Chromosome 6, 112460977: 112460977
10 LAMA4 NM_002290.4(LAMA4): c.3066C> T (p.Pro1022=) single nucleotide variant Likely benign rs146880158 GRCh38 Chromosome 6, 112139775: 112139775
11 LAMA4 NM_002290.4(LAMA4): c.1938T> C (p.Asp646=) single nucleotide variant Conflicting interpretations of pathogenicity rs143269044 GRCh37 Chromosome 6, 112476767: 112476767
12 LAMA4 NM_002290.4(LAMA4): c.1938T> C (p.Asp646=) single nucleotide variant Conflicting interpretations of pathogenicity rs143269044 GRCh38 Chromosome 6, 112155565: 112155565
13 LAMA4 NM_002290.4(LAMA4): c.5429T> C (p.Ile1810Thr) single nucleotide variant Benign/Likely benign rs144482486 GRCh37 Chromosome 6, 112430662: 112430662
14 LAMA4 NM_002290.4(LAMA4): c.5429T> C (p.Ile1810Thr) single nucleotide variant Benign/Likely benign rs144482486 GRCh38 Chromosome 6, 112109459: 112109459
15 LAMA4 NM_002290.4(LAMA4): c.5421C> T (p.Ala1807=) single nucleotide variant Likely benign rs200300118 GRCh37 Chromosome 6, 112430670: 112430670
16 LAMA4 NM_002290.4(LAMA4): c.5421C> T (p.Ala1807=) single nucleotide variant Likely benign rs200300118 GRCh38 Chromosome 6, 112109467: 112109467
17 LAMA4 NM_002290.4(LAMA4): c.4644+8G> T single nucleotide variant Benign/Likely benign rs184220860 GRCh37 Chromosome 6, 112441478: 112441478
18 LAMA4 NM_002290.4(LAMA4): c.4644+8G> T single nucleotide variant Benign/Likely benign rs184220860 GRCh38 Chromosome 6, 112120275: 112120275
19 LAMA4 NM_002290.4(LAMA4): c.4624A> T (p.Asn1542Tyr) single nucleotide variant Uncertain significance rs141261442 GRCh37 Chromosome 6, 112441506: 112441506
20 LAMA4 NM_002290.4(LAMA4): c.4624A> T (p.Asn1542Tyr) single nucleotide variant Uncertain significance rs141261442 GRCh38 Chromosome 6, 112120303: 112120303
21 LAMA4 NM_002290.4(LAMA4): c.4605T> C (p.Ile1535=) single nucleotide variant Likely benign rs150791451 GRCh37 Chromosome 6, 112441525: 112441525
22 LAMA4 NM_002290.4(LAMA4): c.4605T> C (p.Ile1535=) single nucleotide variant Likely benign rs150791451 GRCh38 Chromosome 6, 112120322: 112120322
23 LAMA4 NM_001105206.2(LAMA4): c.2569G> A (p.Ala857Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144123257 GRCh37 Chromosome 6, 112463419: 112463419
24 LAMA4 NM_001105206.2(LAMA4): c.2569G> A (p.Ala857Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144123257 GRCh38 Chromosome 6, 112142217: 112142217
25 LAMA4 NM_002290.4(LAMA4): c.1014G> A (p.Thr338=) single nucleotide variant Benign/Likely benign rs147069572 GRCh37 Chromosome 6, 112506481: 112506481
26 LAMA4 NM_002290.4(LAMA4): c.1014G> A (p.Thr338=) single nucleotide variant Benign/Likely benign rs147069572 GRCh38 Chromosome 6, 112185279: 112185279
27 LAMA4 NM_002290.4(LAMA4): c.641G> A (p.Arg214His) single nucleotide variant Benign/Likely benign rs139146419 GRCh37 Chromosome 6, 112512915: 112512915
28 LAMA4 NM_002290.4(LAMA4): c.641G> A (p.Arg214His) single nucleotide variant Benign/Likely benign rs139146419 GRCh38 Chromosome 6, 112191713: 112191713
29 LAMA4 NM_001105206.2(LAMA4): c.2576C> T (p.Thr859Met) single nucleotide variant Uncertain significance rs730880121 GRCh37 Chromosome 6, 112463412: 112463412
30 LAMA4 NM_001105206.2(LAMA4): c.2576C> T (p.Thr859Met) single nucleotide variant Uncertain significance rs730880121 GRCh38 Chromosome 6, 112142210: 112142210
31 LAMA4 NM_002290.4(LAMA4): c.5416G> A (p.Gly1806Ser) single nucleotide variant Uncertain significance rs142048329 GRCh37 Chromosome 6, 112430675: 112430675
32 LAMA4 NM_002290.4(LAMA4): c.5416G> A (p.Gly1806Ser) single nucleotide variant Uncertain significance rs142048329 GRCh38 Chromosome 6, 112109472: 112109472
33 LAMA4 NM_002290.4(LAMA4): c.2377C> T (p.Arg793Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202184174 GRCh37 Chromosome 6, 112466091: 112466091
34 LAMA4 NM_002290.4(LAMA4): c.2377C> T (p.Arg793Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202184174 GRCh38 Chromosome 6, 112144889: 112144889
35 LAMA4 NM_002290.4(LAMA4): c.1256T> C (p.Met419Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200112094 GRCh37 Chromosome 6, 112496595: 112496595
36 LAMA4 NM_002290.4(LAMA4): c.1256T> C (p.Met419Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200112094 GRCh38 Chromosome 6, 112175393: 112175393
37 LAMA4 NM_002290.4(LAMA4): c.668G> A (p.Arg223His) single nucleotide variant Conflicting interpretations of pathogenicity rs200017155 GRCh37 Chromosome 6, 112512888: 112512888
38 LAMA4 NM_002290.4(LAMA4): c.668G> A (p.Arg223His) single nucleotide variant Conflicting interpretations of pathogenicity rs200017155 GRCh38 Chromosome 6, 112191686: 112191686
39 LAMA4 NM_002290.4(LAMA4): c.1652C> T (p.Ala551Val) single nucleotide variant Uncertain significance rs137893207 GRCh37 Chromosome 6, 112480078: 112480078
40 LAMA4 NM_002290.4(LAMA4): c.1652C> T (p.Ala551Val) single nucleotide variant Uncertain significance rs137893207 GRCh38 Chromosome 6, 112158876: 112158876
41 LAMA4 NM_002290.4(LAMA4): c.4657C> A (p.Arg1553=) single nucleotide variant Conflicting interpretations of pathogenicity rs150069819 GRCh37 Chromosome 6, 112440502: 112440502
42 LAMA4 NM_002290.4(LAMA4): c.4657C> A (p.Arg1553=) single nucleotide variant Conflicting interpretations of pathogenicity rs150069819 GRCh38 Chromosome 6, 112119299: 112119299
43 LAMA4 NM_002290.4(LAMA4): c.5423dupT (p.Ser1809Lysfs) duplication Uncertain significance rs782327744 GRCh37 Chromosome 6, 112430668: 112430668
44 LAMA4 NM_002290.4(LAMA4): c.5423dupT (p.Ser1809Lysfs) duplication Uncertain significance rs782327744 GRCh38 Chromosome 6, 112109465: 112109465
45 LAMA4 NM_002290.4(LAMA4): c.5319A> G (p.Thr1773=) single nucleotide variant Benign/Likely benign rs139241892 GRCh37 Chromosome 6, 112430772: 112430772
46 LAMA4 NM_002290.4(LAMA4): c.5319A> G (p.Thr1773=) single nucleotide variant Benign/Likely benign rs139241892 GRCh38 Chromosome 6, 112109569: 112109569
47 LAMA4 NM_002290.4(LAMA4): c.5186-14G> C single nucleotide variant Benign/Likely benign rs112265545 GRCh37 Chromosome 6, 112435412: 112435412
48 LAMA4 NM_002290.4(LAMA4): c.5186-14G> C single nucleotide variant Benign/Likely benign rs112265545 GRCh38 Chromosome 6, 112114209: 112114209
49 LAMA4 NM_002290.4(LAMA4): c.4562G> A (p.Arg1521His) single nucleotide variant Uncertain significance rs782805733 GRCh37 Chromosome 6, 112441568: 112441568
50 LAMA4 NM_002290.4(LAMA4): c.4562G> A (p.Arg1521His) single nucleotide variant Uncertain significance rs782805733 GRCh38 Chromosome 6, 112120365: 112120365

Expression for Cardiomyopathy, Dilated, 1jj

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Pathways for Cardiomyopathy, Dilated, 1jj

GO Terms for Cardiomyopathy, Dilated, 1jj

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