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 57 13 72
Dilated Cardiomyopathy 1jj 12 29 6
Cmd1jj 57 12 74
Cardiomyopathy, Dilated, Type 1jj 40
Cardiomyopathy, Dilated 1jj 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0110438
MeSH 44 D002311
ICD10 33 I42.0
UMLS 72 C3808935

Summaries for Cardiomyopathy, Dilated, 1jj

UniProtKB/Swiss-Prot : 74 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:

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

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

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

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. 8 71
17646580 2007

Variations for Cardiomyopathy, Dilated, 1jj

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

6 (show top 50) (show all 209)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LAMA4 NM_002290.5(LAMA4): c.2828C> T (p.Pro943Leu) single nucleotide variant Pathogenic rs387907365 6:112462089-112462089 6:112140887-112140887
2 LAMA4 NM_002290.5(LAMA4): c.1939-3T> C single nucleotide variant Conflicting interpretations of pathogenicity rs373682270 6:112476152-112476152 6:112154950-112154950
3 LAMA4 NM_002290.5(LAMA4): c.3144C> T (p.Ser1048=) single nucleotide variant Conflicting interpretations of pathogenicity rs782303510 6:112460439-112460439 6:112139237-112139237
4 LAMA4 NM_002290.5(LAMA4): c.1938T> C (p.Asp646=) single nucleotide variant Conflicting interpretations of pathogenicity rs143269044 6:112476767-112476767 6:112155565-112155565
5 LAMA4 NM_002290.5(LAMA4): c.2548G> A (p.Ala850Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144123257 6:112463419-112463419 6:112142217-112142217
6 LAMA4 NM_002290.5(LAMA4): c.2377C> T (p.Arg793Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202184174 6:112466091-112466091 6:112144889-112144889
7 LAMA4 NM_002290.5(LAMA4): c.1256T> C (p.Met419Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200112094 6:112496595-112496595 6:112175393-112175393
8 LAMA4 NM_002290.5(LAMA4): c.668G> A (p.Arg223His) single nucleotide variant Conflicting interpretations of pathogenicity rs200017155 6:112512888-112512888 6:112191686-112191686
9 LAMA4 NM_002290.5(LAMA4): c.4657C> A (p.Arg1553=) single nucleotide variant Conflicting interpretations of pathogenicity rs150069819 6:112440502-112440502 6:112119299-112119299
10 LAMA4 NM_002290.5(LAMA4): c.1941G> A (p.Ala647=) single nucleotide variant Conflicting interpretations of pathogenicity rs140246538 6:112476147-112476147 6:112154945-112154945
11 LAMA4 NM_002290.5(LAMA4): c.976G> A (p.Ala326Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs576711704 6:112506519-112506519 6:112185317-112185317
12 LAMA4 NM_002290.5(LAMA4): c.343G> A (p.Asp115Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs781919095 6:112528301-112528301 6:112207100-112207100
13 LAMA4 NM_002290.5(LAMA4): c.3033G> T (p.Leu1011Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs183262122 6:112461010-112461010 6:112139808-112139808
14 LAMA4 NM_002290.5(LAMA4): c.3034T> C (p.Tyr1012His) single nucleotide variant Conflicting interpretations of pathogenicity rs73532636 6:112461009-112461009 6:112139807-112139807
15 LAMA4 NM_002290.5(LAMA4): c.842C> G (p.Ala281Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs150084275 6:112508755-112508755 6:112187553-112187553
16 LAMA4 NM_002290.5(LAMA4): c.514G> A (p.Gly172Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs147695488 6:112513042-112513042 6:112191840-112191840
17 LAMA4 NM_002290.5(LAMA4): c.4831C> T (p.Leu1611Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs397516733 6:112439071-112439071 6:112117868-112117868
18 LAMA4 NM_002290.5(LAMA4): c.3922G> A (p.Val1308Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs70940811 6:112452195-112452195 6:112130993-112130993
19 LAMA4 NM_002290.5(LAMA4): c.3813G> A (p.Gly1271=) single nucleotide variant Conflicting interpretations of pathogenicity rs141988342 6:112453955-112453955 6:112132753-112132753
20 LAMA4 NM_002290.5(LAMA4): c.2150G> A (p.Arg717Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs146868519 6:112471715-112471715 6:112150513-112150513
21 LAMA4 NM_002290.5(LAMA4): c.1454T> A (p.Leu485His) single nucleotide variant Conflicting interpretations of pathogenicity rs3752579 6:112493889-112493889 6:112172687-112172687
22 LAMA4 NM_002290.5(LAMA4): c.1369C> G (p.His457Asp) single nucleotide variant Uncertain significance rs151119304 6:112493974-112493974 6:112172772-112172772
23 LAMA4 NM_002290.5(LAMA4): c.2069G> A (p.Arg690His) single nucleotide variant Uncertain significance rs397516723 6:112471796-112471796 6:112150594-112150594
24 LAMA4 NM_002290.5(LAMA4): c.1277G> A (p.Arg426His) single nucleotide variant Uncertain significance rs369658574 6:112496574-112496574 6:112175372-112175372
25 LAMA4 NM_002290.5(LAMA4): c.547A> G (p.Thr183Ala) single nucleotide variant Uncertain significance rs782667094 6:112513009-112513009 6:112191807-112191807
26 LAMA4 NM_002290.5(LAMA4): c.931A> G (p.Ile311Val) single nucleotide variant Uncertain significance rs141372605 6:112508666-112508666 6:112187464-112187464
27 LAMA4 NM_002290.5(LAMA4): c.2506G> C (p.Ala836Pro) single nucleotide variant Uncertain significance rs536755553 6:112463461-112463461 6:112142259-112142259
28 LAMA4 NM_002290.5(LAMA4): c.5000T> G (p.Phe1667Cys) single nucleotide variant Uncertain significance rs1209180229 6:112437157-112437157 6:112115954-112115954
29 LAMA4 NM_002290.5(LAMA4): c.5372T> C (p.Ile1791Thr) single nucleotide variant Uncertain significance rs377204776 6:112430719-112430719 6:112109516-112109516
30 LAMA4 NM_002290.5(LAMA4): c.1501G> A (p.Ala501Thr) single nucleotide variant Uncertain significance 6:112493842-112493842 6:112172640-112172640
31 LAMA4 NM_002290.5(LAMA4): c.1145A> G (p.His382Arg) single nucleotide variant Uncertain significance 6:112499346-112499346 6:112178144-112178144
32 LAMA4 NM_002290.5(LAMA4): c.328T> G (p.Cys110Gly) single nucleotide variant Uncertain significance 6:112528316-112528316 6:112207115-112207115
33 LAMA4 NM_002290.5(LAMA4): c.3262-3C> G single nucleotide variant Uncertain significance 6:112457459-112457459 6:112136257-112136257
34 LAMA4 NM_002290.5(LAMA4): c.4147C> T (p.Arg1383Trp) single nucleotide variant Uncertain significance rs200189282 6:112450243-112450243 6:112129041-112129041
35 LAMA4 NM_002290.5(LAMA4): c.4415G> A (p.Arg1472His) single nucleotide variant Uncertain significance rs140346737 6:112443256-112443256 6:112122053-112122053
36 LAMA4 NM_002290.5(LAMA4): c.503G> A (p.Arg168Lys) single nucleotide variant Uncertain significance rs200368819 6:112522809-112522809 6:112201608-112201608
37 LAMA4 NM_002290.5(LAMA4): c.5249C> T (p.Pro1750Leu) single nucleotide variant Uncertain significance rs200177134 6:112435335-112435335 6:112114132-112114132
38 LAMA4 NM_002290.5(LAMA4): c.521A> G (p.Tyr174Cys) single nucleotide variant Uncertain significance rs202131320 6:112513035-112513035 6:112191833-112191833
39 LAMA4 NM_002290.5(LAMA4): c.5423dup (p.Ser1809fs) duplication Uncertain significance rs782327744 6:112430668-112430668 6:112109465-112109465
40 LAMA4 NM_002290.5(LAMA4): c.3224C> T (p.Pro1075Leu) single nucleotide variant Uncertain significance rs782040284 6:112460359-112460359 6:112139157-112139157
41 LAMA4 NM_002290.5(LAMA4): c.4562G> A (p.Arg1521His) single nucleotide variant Uncertain significance rs782805733 6:112441568-112441568 6:112120365-112120365
42 LAMA4 NM_002290.5(LAMA4): c.808G> A (p.Val270Ile) single nucleotide variant Uncertain significance rs146225813 6:112508789-112508789 6:112187587-112187587
43 LAMA4 NM_002290.5(LAMA4): c.1399G> A (p.Val467Ile) single nucleotide variant Uncertain significance rs375981026 6:112493944-112493944 6:112172742-112172742
44 LAMA4 NM_002290.5(LAMA4): c.1415A> T (p.Asp472Val) single nucleotide variant Uncertain significance rs781939403 6:112493928-112493928 6:112172726-112172726
45 LAMA4 NM_002290.5(LAMA4): c.3145G> A (p.Gly1049Ser) single nucleotide variant Uncertain significance rs145321940 6:112460438-112460438 6:112139236-112139236
46 LAMA4 NM_002290.5(LAMA4): c.1652C> T (p.Ala551Val) single nucleotide variant Uncertain significance rs137893207 6:112480078-112480078 6:112158876-112158876
47 LAMA4 NM_002290.5(LAMA4): c.4624A> T (p.Asn1542Tyr) single nucleotide variant Uncertain significance rs141261442 6:112441506-112441506 6:112120303-112120303
48 LAMA4 NM_002290.5(LAMA4): c.2555C> T (p.Thr852Met) single nucleotide variant Uncertain significance rs730880121 6:112463412-112463412 6:112142210-112142210
49 LAMA4 NM_002290.5(LAMA4): c.5416G> A (p.Gly1806Ser) single nucleotide variant Uncertain significance rs142048329 6:112430675-112430675 6:112109472-112109472
50 LAMA4 NM_002290.5(LAMA4): c.2204A> G (p.Asn735Ser) single nucleotide variant Uncertain significance rs374279330 6:112469487-112469487 6:112148285-112148285

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

74
# 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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