MCID: CRD149
MIFTS: 19

Cardiomyopathy, Dilated, 1jj

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1jj

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1jj:

Name: Cardiomyopathy, Dilated, 1jj 57 13 73
Dilated Cardiomyopathy 1jj 12 29 6
Cmd1jj 57 12 75
Cardiomyopathy, Dilated, Type 1jj 40
Cardiomyopathy, Dilated 1jj 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
cardiomyopathy, dilated, 1jj:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615235
Disease Ontology 12 DOID:0110438
ICD10 33 I42.0
MeSH 44 D002311
SNOMED-CT via HPO 69 263681008 195021004 399020009
UMLS 73 C3808935

Summaries for Cardiomyopathy, Dilated, 1jj

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
cardiomyopathy, dilated, severe
markedly decreased ejection fraction
loss of endothelial cells seen on myocardial biopsy


Clinical features from OMIM:

615235

Human phenotypes related to Cardiomyopathy, Dilated, 1jj:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644

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 29 LAMA4

Anatomical Context for Cardiomyopathy, Dilated, 1jj

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

41
Heart, Endothelial

Publications for Cardiomyopathy, Dilated, 1jj

Variations for Cardiomyopathy, Dilated, 1jj

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

75
# 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 218)
# Gene Variation Type Significance SNP ID Assembly Location
1 LAMA4 NM_002290.4(LAMA4): c.3217C> T (p.Arg1073Ter) single nucleotide variant Pathogenic rs372615994 GRCh37 Chromosome 6, 112460366: 112460366
2 LAMA4 NM_002290.4(LAMA4): c.3217C> T (p.Arg1073Ter) single nucleotide variant Pathogenic rs372615994 GRCh38 Chromosome 6, 112139164: 112139164
3 LAMA4 NM_002290.4(LAMA4): c.2828C> T (p.Pro943Leu) single nucleotide variant Pathogenic rs387907365 GRCh37 Chromosome 6, 112462089: 112462089
4 LAMA4 NM_002290.4(LAMA4): c.2828C> T (p.Pro943Leu) single nucleotide variant Pathogenic rs387907365 GRCh38 Chromosome 6, 112140887: 112140887
5 LAMA4 NM_002290.4(LAMA4): c.2634C> T (p.Leu878=) single nucleotide variant Benign/Likely benign rs35772073 GRCh37 Chromosome 6, 112463333: 112463333
6 LAMA4 NM_002290.4(LAMA4): c.2634C> T (p.Leu878=) single nucleotide variant Benign/Likely benign rs35772073 GRCh38 Chromosome 6, 112142131: 112142131
7 LAMA4 NM_002290.4(LAMA4): c.2382G> A (p.Thr794=) single nucleotide variant Benign/Likely benign rs142559688 GRCh37 Chromosome 6, 112466086: 112466086
8 LAMA4 NM_002290.4(LAMA4): c.2382G> A (p.Thr794=) single nucleotide variant Benign/Likely benign rs142559688 GRCh38 Chromosome 6, 112144884: 112144884
9 LAMA4 NM_002290.4(LAMA4): c.1593G> A (p.Ala531=) single nucleotide variant Benign/Likely benign rs143587921 GRCh37 Chromosome 6, 112486416: 112486416
10 LAMA4 NM_002290.4(LAMA4): c.1593G> A (p.Ala531=) single nucleotide variant Benign/Likely benign rs143587921 GRCh38 Chromosome 6, 112165214: 112165214
11 LAMA4 NM_002290.4(LAMA4): c.195+144T> C single nucleotide variant Benign rs147118520 GRCh37 Chromosome 6, 112575014: 112575014
12 LAMA4 NM_002290.4(LAMA4): c.195+144T> C single nucleotide variant Benign rs147118520 GRCh38 Chromosome 6, 112253812: 112253812
13 LAMA4 NM_002290.4(LAMA4): c.3066C> T (p.Pro1022=) single nucleotide variant Likely benign rs146880158 GRCh37 Chromosome 6, 112460977: 112460977
14 LAMA4 NM_002290.4(LAMA4): c.3066C> T (p.Pro1022=) single nucleotide variant Likely benign rs146880158 GRCh38 Chromosome 6, 112139775: 112139775
15 LAMA4 NM_002290.4(LAMA4): c.1938T> C (p.Asp646=) single nucleotide variant Conflicting interpretations of pathogenicity rs143269044 GRCh37 Chromosome 6, 112476767: 112476767
16 LAMA4 NM_002290.4(LAMA4): c.1938T> C (p.Asp646=) single nucleotide variant Conflicting interpretations of pathogenicity rs143269044 GRCh38 Chromosome 6, 112155565: 112155565
17 LAMA4 NM_002290.4(LAMA4): c.5429T> C (p.Ile1810Thr) single nucleotide variant Benign/Likely benign rs144482486 GRCh37 Chromosome 6, 112430662: 112430662
18 LAMA4 NM_002290.4(LAMA4): c.5429T> C (p.Ile1810Thr) single nucleotide variant Benign/Likely benign rs144482486 GRCh38 Chromosome 6, 112109459: 112109459
19 LAMA4 NM_002290.4(LAMA4): c.5421C> T (p.Ala1807=) single nucleotide variant Likely benign rs200300118 GRCh37 Chromosome 6, 112430670: 112430670
20 LAMA4 NM_002290.4(LAMA4): c.5421C> T (p.Ala1807=) single nucleotide variant Likely benign rs200300118 GRCh38 Chromosome 6, 112109467: 112109467
21 LAMA4 NM_002290.4(LAMA4): c.4644+8G> T single nucleotide variant Benign/Likely benign rs184220860 GRCh37 Chromosome 6, 112441478: 112441478
22 LAMA4 NM_002290.4(LAMA4): c.4644+8G> T single nucleotide variant Benign/Likely benign rs184220860 GRCh38 Chromosome 6, 112120275: 112120275
23 LAMA4 NM_002290.4(LAMA4): c.4624A> T (p.Asn1542Tyr) single nucleotide variant Uncertain significance rs141261442 GRCh37 Chromosome 6, 112441506: 112441506
24 LAMA4 NM_002290.4(LAMA4): c.4624A> T (p.Asn1542Tyr) single nucleotide variant Uncertain significance rs141261442 GRCh38 Chromosome 6, 112120303: 112120303
25 LAMA4 NM_002290.4(LAMA4): c.4605T> C (p.Ile1535=) single nucleotide variant Likely benign rs150791451 GRCh37 Chromosome 6, 112441525: 112441525
26 LAMA4 NM_002290.4(LAMA4): c.4605T> C (p.Ile1535=) single nucleotide variant Likely benign rs150791451 GRCh38 Chromosome 6, 112120322: 112120322
27 LAMA4 NM_001105206.2(LAMA4): c.2569G> A (p.Ala857Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144123257 GRCh37 Chromosome 6, 112463419: 112463419
28 LAMA4 NM_001105206.2(LAMA4): c.2569G> A (p.Ala857Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144123257 GRCh38 Chromosome 6, 112142217: 112142217
29 LAMA4 NM_002290.4(LAMA4): c.1014G> A (p.Thr338=) single nucleotide variant Benign/Likely benign rs147069572 GRCh37 Chromosome 6, 112506481: 112506481
30 LAMA4 NM_002290.4(LAMA4): c.1014G> A (p.Thr338=) single nucleotide variant Benign/Likely benign rs147069572 GRCh38 Chromosome 6, 112185279: 112185279
31 LAMA4 NM_002290.4(LAMA4): c.641G> A (p.Arg214His) single nucleotide variant Benign/Likely benign rs139146419 GRCh37 Chromosome 6, 112512915: 112512915
32 LAMA4 NM_002290.4(LAMA4): c.641G> A (p.Arg214His) single nucleotide variant Benign/Likely benign rs139146419 GRCh38 Chromosome 6, 112191713: 112191713
33 LAMA4 NM_001105206.2(LAMA4): c.2576C> T (p.Thr859Met) single nucleotide variant Uncertain significance rs730880121 GRCh37 Chromosome 6, 112463412: 112463412
34 LAMA4 NM_001105206.2(LAMA4): c.2576C> T (p.Thr859Met) single nucleotide variant Uncertain significance rs730880121 GRCh38 Chromosome 6, 112142210: 112142210
35 LAMA4 NM_002290.4(LAMA4): c.2377C> T (p.Arg793Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202184174 GRCh37 Chromosome 6, 112466091: 112466091
36 LAMA4 NM_002290.4(LAMA4): c.2377C> T (p.Arg793Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202184174 GRCh38 Chromosome 6, 112144889: 112144889
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.5319A> G (p.Thr1773=) single nucleotide variant Benign/Likely benign rs139241892 GRCh37 Chromosome 6, 112430772: 112430772
44 LAMA4 NM_002290.4(LAMA4): c.5319A> G (p.Thr1773=) single nucleotide variant Benign/Likely benign rs139241892 GRCh38 Chromosome 6, 112109569: 112109569
45 LAMA4 NM_002290.4(LAMA4): c.5186-14G> C single nucleotide variant Benign/Likely benign rs112265545 GRCh37 Chromosome 6, 112435412: 112435412
46 LAMA4 NM_002290.4(LAMA4): c.5186-14G> C single nucleotide variant Benign/Likely benign rs112265545 GRCh38 Chromosome 6, 112114209: 112114209
47 LAMA4 NM_002290.4(LAMA4): c.4562G> A (p.Arg1521His) single nucleotide variant Uncertain significance rs782805733 GRCh37 Chromosome 6, 112441568: 112441568
48 LAMA4 NM_002290.4(LAMA4): c.4562G> A (p.Arg1521His) single nucleotide variant Uncertain significance rs782805733 GRCh38 Chromosome 6, 112120365: 112120365
49 LAMA4 NM_002290.4(LAMA4): c.3224C> T (p.Pro1075Leu) single nucleotide variant Uncertain significance rs782040284 GRCh37 Chromosome 6, 112460359: 112460359
50 LAMA4 NM_002290.4(LAMA4): c.3224C> T (p.Pro1075Leu) single nucleotide variant Uncertain significance rs782040284 GRCh38 Chromosome 6, 112139157: 112139157

Expression for Cardiomyopathy, Dilated, 1jj

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Pathways for Cardiomyopathy, Dilated, 1jj

GO Terms for Cardiomyopathy, Dilated, 1jj

Sources for Cardiomyopathy, Dilated, 1jj

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