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, endothelial and bone, 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, Bone

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 166) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.5270C>T (p.Pro1757Leu)SNV Conflicting interpretations of pathogenicity 44404 rs200177134 6:112435335-112435335 6:112114132-112114132
3 LAMA4 NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe)SNV Conflicting interpretations of pathogenicity 44398 rs397516733 6:112439071-112439071 6:112117868-112117868
4 LAMA4 NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly)SNV Conflicting interpretations of pathogenicity 44410 rs150084275 6:112508755-112508755 6:112187553-112187553
5 LAMA4 NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His)SNV Conflicting interpretations of pathogenicity 44360 rs397516723 6:112471796-112471796 6:112150594-112150594
6 LAMA4 NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)SNV Conflicting interpretations of pathogenicity 44361 rs146868519 6:112471715-112471715 6:112150513-112150513
7 LAMA4 NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=)SNV Conflicting interpretations of pathogenicity 44379 rs141988342 6:112453955-112453955 6:112132753-112132753
8 LAMA4 NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr)SNV Conflicting interpretations of pathogenicity 178053 rs144123257 6:112463419-112463419 6:112142217-112142217
9 LAMA4 NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys)SNV Conflicting interpretations of pathogenicity 192119 rs202184174 6:112466091-112466091 6:112144889-112144889
10 LAMA4 NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr)SNV Conflicting interpretations of pathogenicity 192120 rs200112094 6:112496595-112496595 6:112175393-112175393
11 LAMA4 NM_001105206.3(LAMA4):c.668G>A (p.Arg223His)SNV Conflicting interpretations of pathogenicity 192121 rs200017155 6:112512888-112512888 6:112191686-112191686
12 LAMA4 NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=)SNV Conflicting interpretations of pathogenicity 196891 rs150069819 6:112440502-112440502 6:112119299-112119299
13 LAMA4 NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe)SNV Conflicting interpretations of pathogenicity 213589 rs183262122 6:112461010-112461010 6:112139808-112139808
14 LAMA4 NM_001105206.3(LAMA4):c.343G>A (p.Asp115Asn)SNV Conflicting interpretations of pathogenicity 227477 rs781919095 6:112528301-112528301 6:112207100-112207100
15 LAMA4 NM_001105206.3(LAMA4):c.1960-3T>CSNV Conflicting interpretations of pathogenicity 388786 rs373682270 6:112476152-112476152 6:112154950-112154950
16 LAMA4 NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val)SNV Conflicting interpretations of pathogenicity 488160 rs547323858 6:112454047-112454047 6:112132845-112132845
17 LAMA4 NM_001105206.3(LAMA4):c.2402C>T (p.Thr801Met)SNV Uncertain significance 541219 rs782325644 6:112466087-112466087 6:112144885-112144885
18 LAMA4 NM_001105206.3(LAMA4):c.2143G>T (p.Ala715Ser)SNV Uncertain significance 541216 rs140710429 6:112471743-112471743 6:112150541-112150541
19 LAMA4 NM_001105206.3(LAMA4):c.730G>A (p.Gly244Arg)SNV Uncertain significance 541223 rs147078770 6:112510396-112510396 6:112189194-112189194
20 LAMA4 NM_001105206.3(LAMA4):c.167C>T (p.Ala56Val)SNV Uncertain significance 541220 rs372763422 6:112575186-112575186 6:112253984-112253984
21 LAMA4 NM_001105206.3(LAMA4):c.1961C>T (p.Ala654Val)SNV Uncertain significance 541217 rs782806847 6:112476148-112476148 6:112154946-112154946
22 LAMA4 NM_001105206.3(LAMA4):c.710A>T (p.Asn237Ile)SNV Uncertain significance 541225 rs1554349049 6:112512846-112512846 6:112191644-112191644
23 LAMA4 NM_001105206.3(LAMA4):c.2203A>G (p.Arg735Gly)SNV Uncertain significance 541221 rs552625719 6:112469509-112469509 6:112148307-112148307
24 LAMA4 NM_001105206.3(LAMA4):c.1275G>T (p.Lys425Asn)SNV Uncertain significance 541224 rs782618132 6:112496597-112496597 6:112175395-112175395
25 LAMA4 NM_001105206.3(LAMA4):c.4972G>A (p.Val1658Met)SNV Uncertain significance 541227 rs149555058 6:112438951-112438951 6:112117748-112117748
26 LAMA4 NM_001105206.3(LAMA4):c.4572G>C (p.Leu1524Phe)SNV Uncertain significance 541218 rs145315273 6:112441579-112441579 6:112120376-112120376
27 LAMA4 NM_001105206.3(LAMA4):c.4078A>G (p.Ile1360Val)SNV Uncertain significance 541222 rs1219695312 6:112451133-112451133 6:112129931-112129931
28 LAMA4 NM_001105206.3(LAMA4):c.1077+4C>TSNV Uncertain significance 541232 rs1192025877 6:112506435-112506435 6:112185233-112185233
29 LAMA4 NM_001105206.3(LAMA4):c.5129A>G (p.Asn1710Ser)SNV Uncertain significance 581348 rs1219557048 6:112435943-112435943 6:112114740-112114740
30 LAMA4 NM_001105206.3(LAMA4):c.1082dup (p.Asn361fs)duplication Uncertain significance 575788 rs1562698762 6:112499429-112499430 6:112178227-112178228
31 LAMA4 NM_001105206.3(LAMA4):c.909T>A (p.Ser303=)SNV Uncertain significance 566611 rs782217722 6:112508709-112508709 6:112187507-112187507
32 LAMA4 NM_001105206.3(LAMA4):c.550T>C (p.Cys184Arg)SNV Uncertain significance 581639 rs759487426 6:112513006-112513006 6:112191804-112191804
33 LAMA4 NM_001105206.3(LAMA4):c.4287+4A>GSNV Uncertain significance 569252 rs782528136 6:112450120-112450120 6:112128918-112128918
34 LAMA4 NM_001105206.3(LAMA4):c.2231C>A (p.Thr744Lys)SNV Uncertain significance 576733 rs782380775 6:112469481-112469481 6:112148279-112148279
35 LAMA4 NM_001105206.3(LAMA4):c.4786G>A (p.Gly1596Ser)SNV Uncertain significance 579669 rs373949918 6:112440394-112440394 6:112119191-112119191
36 LAMA4 NM_001105206.3(LAMA4):c.4402C>T (p.His1468Tyr)SNV Uncertain significance 583105 rs1562631261 6:112443290-112443290 6:112122087-112122087
37 LAMA4 NM_001105206.3(LAMA4):c.1105C>A (p.Leu369Ile)SNV Uncertain significance 568902 rs1291328403 6:112499407-112499407 6:112178205-112178205
38 LAMA4 NM_001105206.3(LAMA4):c.964A>C (p.Lys322Gln)SNV Uncertain significance 618699 rs1375382054 6:112508654-112508654 6:112187452-112187452
39 LAMA4 NM_001105206.3(LAMA4):c.1801G>A (p.Ala601Thr)SNV Uncertain significance 638532 6:112479950-112479950 6:112158748-112158748
40 LAMA4 NM_001105206.3(LAMA4):c.5254A>G (p.Asn1752Asp)SNV Uncertain significance 643208 6:112435351-112435351 6:112114148-112114148
41 LAMA4 NM_001105206.3(LAMA4):c.4724T>C (p.Leu1575Pro)SNV Uncertain significance 651076 6:112440456-112440456 6:112119253-112119253
42 LAMA4 NM_001105206.3(LAMA4):c.4681G>A (p.Glu1561Lys)SNV Uncertain significance 646145 6:112440499-112440499 6:112119296-112119296
43 LAMA4 NM_001105206.3(LAMA4):c.4234C>T (p.Leu1412Phe)SNV Uncertain significance 642288 6:112450177-112450177 6:112128975-112128975
44 LAMA4 NM_001105206.3(LAMA4):c.4223C>T (p.Pro1408Leu)SNV Uncertain significance 646942 6:112450188-112450188 6:112128986-112128986
45 LAMA4 NM_001105206.3(LAMA4):c.4066G>C (p.Gly1356Arg)SNV Uncertain significance 642981 6:112451145-112451145 6:112129943-112129943
46 LAMA4 NM_001105206.3(LAMA4):c.3483G>A (p.Met1161Ile)SNV Uncertain significance 649541 6:112455743-112455743 6:112134541-112134541
47 LAMA4 NM_001105206.3(LAMA4):c.2611C>T (p.Arg871Trp)SNV Uncertain significance 650166 6:112463377-112463377 6:112142175-112142175
48 LAMA4 NM_001105206.3(LAMA4):c.2416C>G (p.Arg806Gly)SNV Uncertain significance 661032 6:112466073-112466073 6:112144871-112144871
49 LAMA4 NM_001105206.3(LAMA4):c.1843G>A (p.Gly615Arg)SNV Uncertain significance 654405 6:112476883-112476883 6:112155681-112155681
50 LAMA4 NM_001105206.3(LAMA4):c.1829G>A (p.Ser610Asn)SNV Uncertain significance 648068 6:112476897-112476897 6:112155695-112155695

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

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Pathways for Cardiomyopathy, Dilated, 1jj

GO Terms for Cardiomyopathy, Dilated, 1jj

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