CMD1JJ
MCID: CRD149
MIFTS: 24

Cardiomyopathy, Dilated, 1jj (CMD1JJ)

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

Aliases & Classifications for Cardiomyopathy, Dilated, 1jj

MalaCards integrated aliases for Cardiomyopathy, Dilated, 1jj:

Name: Cardiomyopathy, Dilated, 1jj 56 13 71
Dilated Cardiomyopathy 1jj 12 29 6
Cmd1jj 56 12 73
Cardiomyopathy, Dilated, Type 1jj 39
Cardiomyopathy, Dilated 1jj 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
cardiomyopathy, dilated, 1jj:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110438
OMIM 56 615235
OMIM Phenotypic Series 56 PS115200
MeSH 43 D002311
ICD10 32 I42.0
SNOMED-CT via HPO 68 195021004 263681008 399020009
UMLS 71 C3808935

Summaries for Cardiomyopathy, Dilated, 1jj

UniProtKB/Swiss-Prot : 73 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.

More information from OMIM: 615235 PS115200

Symptoms & Phenotypes for Cardiomyopathy, Dilated, 1jj

Human phenotypes related to Cardiomyopathy, Dilated, 1jj:

31
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 31 HP:0001644

Symptoms via clinical synopsis from OMIM:

56
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 29 LAMA4

Anatomical Context for Cardiomyopathy, Dilated, 1jj

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

40
Heart, Endothelial

Publications for Cardiomyopathy, Dilated, 1jj

Articles related to Cardiomyopathy, Dilated, 1jj:

# Title Authors PMID Year
1
Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells. 56 6
17646580 2007

Variations for Cardiomyopathy, Dilated, 1jj

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

6 (show top 50) (show all 257) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LAMA4 NM_001105206.3(LAMA4):c.2849C>T (p.Pro950Leu)SNV Pathogenic 50370 rs387907365 6:112462089-112462089 6:112140887-112140887
2 LAMA4 NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=)SNV Conflicting interpretations of pathogenicity 177973 rs143269044 6:112476767-112476767 6:112155565-112155565
3 LAMA4 NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys)SNV Conflicting interpretations of pathogenicity 178049 rs145897390 6:112430768-112430768 6:112109565-112109565
4 LAMA4 NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys)SNV Conflicting interpretations of pathogenicity 192119 rs202184174 6:112466091-112466091 6:112144889-112144889
5 LAMA4 NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr)SNV Conflicting interpretations of pathogenicity 192120 rs200112094 6:112496595-112496595 6:112175393-112175393
6 LAMA4 NM_001105206.3(LAMA4):c.668G>A (p.Arg223His)SNV Conflicting interpretations of pathogenicity 192121 rs200017155 6:112512888-112512888 6:112191686-112191686
7 LAMA4 NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=)SNV Conflicting interpretations of pathogenicity 196891 rs150069819 6:112440502-112440502 6:112119299-112119299
8 LAMA4 NM_001105206.3(LAMA4):c.3055T>C (p.Tyr1019His)SNV Conflicting interpretations of pathogenicity 213590 rs73532636 6:112461009-112461009 6:112139807-112139807
9 LAMA4 NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe)SNV Conflicting interpretations of pathogenicity 213589 rs183262122 6:112461010-112461010 6:112139808-112139808
10 LAMA4 NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met)SNV Conflicting interpretations of pathogenicity 44373 rs373650093 6:112460429-112460429 6:112139227-112139227
11 LAMA4 NM_001105206.3(LAMA4):c.3558-7T>CSNV Conflicting interpretations of pathogenicity 44378 rs200864778 6:112454696-112454696 6:112133494-112133494
12 LAMA4 NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=)SNV Conflicting interpretations of pathogenicity 44379 rs141988342 6:112453955-112453955 6:112132753-112132753
13 LAMA4 NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile)SNV Conflicting interpretations of pathogenicity 44380 rs70940811 6:112452195-112452195 6:112130993-112130993
14 LAMA4 NM_001105206.3(LAMA4):c.4436G>A (p.Arg1479His)SNV Conflicting interpretations of pathogenicity 44389 rs140346737 6:112443256-112443256 6:112122053-112122053
15 LAMA4 NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe)SNV Conflicting interpretations of pathogenicity 44398 rs397516733 6:112439071-112439071 6:112117868-112117868
16 LAMA4 NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu)SNV Conflicting interpretations of pathogenicity 44404 rs200177134 6:112435335-112435335 6:112114132-112114132
17 LAMA4 NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly)SNV Conflicting interpretations of pathogenicity 44410 rs150084275 6:112508755-112508755 6:112187553-112187553
18 LAMA4 NM_001105206.3(LAMA4):c.343G>A (p.Asp115Asn)SNV Conflicting interpretations of pathogenicity 227477 rs781919095 6:112528301-112528301 6:112207100-112207100
19 LAMA4 NM_001105206.3(LAMA4):c.1551+4C>TSNV Conflicting interpretations of pathogenicity 228779 rs201209516 6:112493809-112493809 6:112172607-112172607
20 LAMA4 NM_001105206.3(LAMA4):c.1960-3T>CSNV Conflicting interpretations of pathogenicity 388786 rs373682270 6:112476152-112476152 6:112154950-112154950
21 LAMA4 NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)SNV Conflicting interpretations of pathogenicity 488160 rs547323858 6:112454047-112454047 6:112132845-112132845
22 LAMA4 NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His)SNV Conflicting interpretations of pathogenicity 44347 rs3752579 6:112493889-112493889 6:112172687-112172687
23 LAMA4 NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr)SNV Conflicting interpretations of pathogenicity 44357 rs397516720 6:112476110-112476110 6:112154908-112154908
24 LAMA4 NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His)SNV Conflicting interpretations of pathogenicity 44360 rs397516723 6:112471796-112471796 6:112150594-112150594
25 LAMA4 NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)SNV Conflicting interpretations of pathogenicity 44361 rs146868519 6:112471715-112471715 6:112150513-112150513
26 LAMA4 NM_001105206.3(LAMA4):c.1298G>A (p.Arg433His)SNV Uncertain significance 44341 rs369658574 6:112496574-112496574 6:112175372-112175372
27 LAMA4 NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp)SNV Uncertain significance 44346 rs151119304 6:112493974-112493974 6:112172772-112172772
28 LAMA4 NM_001105206.3(LAMA4):c.964A>C (p.Lys322Gln)SNV Uncertain significance 618699 rs1375382054 6:112508654-112508654 6:112187452-112187452
29 LAMA4 NM_001105206.3(LAMA4):c.5206+1G>ASNV Uncertain significance 635222 rs368035482 6:112435865-112435865 6:112114662-112114662
30 LAMA4 NM_001105206.3(LAMA4):c.1801G>A (p.Ala601Thr)SNV Uncertain significance 638532 6:112479950-112479950 6:112158748-112158748
31 LAMA4 NM_001105206.3(LAMA4):c.5254A>G (p.Asn1752Asp)SNV Uncertain significance 643208 6:112435351-112435351 6:112114148-112114148
32 LAMA4 NM_001105206.3(LAMA4):c.4724T>C (p.Leu1575Pro)SNV Uncertain significance 651076 6:112440456-112440456 6:112119253-112119253
33 LAMA4 NM_001105206.3(LAMA4):c.4681G>A (p.Glu1561Lys)SNV Uncertain significance 646145 6:112440499-112440499 6:112119296-112119296
34 LAMA4 NM_001105206.3(LAMA4):c.4234C>T (p.Leu1412Phe)SNV Uncertain significance 642288 6:112450177-112450177 6:112128975-112128975
35 LAMA4 NM_001105206.3(LAMA4):c.4223C>T (p.Pro1408Leu)SNV Uncertain significance 646942 6:112450188-112450188 6:112128986-112128986
36 LAMA4 NM_001105206.3(LAMA4):c.4066G>C (p.Gly1356Arg)SNV Uncertain significance 642981 6:112451145-112451145 6:112129943-112129943
37 LAMA4 NM_001105206.3(LAMA4):c.3483G>A (p.Met1161Ile)SNV Uncertain significance 649541 6:112455743-112455743 6:112134541-112134541
38 LAMA4 NM_001105206.3(LAMA4):c.2611C>T (p.Arg871Trp)SNV Uncertain significance 650166 6:112463377-112463377 6:112142175-112142175
39 LAMA4 NM_001105206.3(LAMA4):c.2416C>G (p.Arg806Gly)SNV Uncertain significance 661032 6:112466073-112466073 6:112144871-112144871
40 LAMA4 NM_001105206.3(LAMA4):c.1843G>A (p.Gly615Arg)SNV Uncertain significance 654405 6:112476883-112476883 6:112155681-112155681
41 LAMA4 NM_001105206.3(LAMA4):c.1829G>A (p.Ser610Asn)SNV Uncertain significance 648068 6:112476897-112476897 6:112155695-112155695
42 LAMA4 NM_001105206.3(LAMA4):c.1595T>C (p.Met532Thr)SNV Uncertain significance 641388 6:112486435-112486435 6:112165233-112165233
43 LAMA4 NM_001105206.3(LAMA4):c.1582G>A (p.Glu528Lys)SNV Uncertain significance 664563 6:112486448-112486448 6:112165246-112165246
44 LAMA4 NM_001105206.3(LAMA4):c.1522G>A (p.Ala508Thr)SNV Uncertain significance 654291 6:112493842-112493842 6:112172640-112172640
45 LAMA4 NM_001105206.3(LAMA4):c.1166A>G (p.His389Arg)SNV Uncertain significance 647160 6:112499346-112499346 6:112178144-112178144
46 LAMA4 NM_001105206.3(LAMA4):c.328T>G (p.Cys110Gly)SNV Uncertain significance 657006 6:112528316-112528316 6:112207115-112207115
47 LAMA4 NM_001105206.3(LAMA4):c.3283-3C>GSNV Uncertain significance 660540 6:112457459-112457459 6:112136257-112136257
48 LAMA4 NC_000006.11:g.(?_112465986)_(112476918_?)deldeletion Uncertain significance 832316 6:112465986-112476918
49 LAMA4 NM_001105206.3(LAMA4):c.5440G>A (p.Ala1814Thr)SNV Uncertain significance 848167 6:112430672-112430672 6:112109469-112109469
50 LAMA4 NM_001105206.3(LAMA4):c.5384A>C (p.His1795Pro)SNV Uncertain significance 845361 6:112430728-112430728 6:112109525-112109525

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

73
# Symbol AA change Variation ID SNP ID
1 LAMA4 p.Pro950Leu VAR_069708

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

Sources for Cardiomyopathy, Dilated, 1jj

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