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LVNC7
MCID: LFT020
MIFTS: 16

Left Ventricular Noncompaction 7 (LVNC7)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes
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Aliases & Classifications for Left Ventricular Noncompaction 7

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MalaCards integrated aliases for Left Ventricular Noncompaction 7:

Name: Left Ventricular Noncompaction 7 58 76 30 13 6 74
Lvnc7 58 76
Ventricular Noncompaction, Left, Type 7 41
Left Ventricular Non-Compaction 7 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
left ventricular noncompaction 7:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Blood diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 58 615092
MeSH 45 D056830
MedGen 43 C3554496
SNOMED-CT via HPO 70 253308005 263681008 441541008
UMLS 74 C3554496
Sources

Summaries for Left Ventricular Noncompaction 7

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UniProtKB/Swiss-Prot : 76 Left ventricular non-compaction 7: A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC7 is an autosomal dominant condition.

MalaCards based summary : Left Ventricular Noncompaction 7, is also known as lvnc7. An important gene associated with Left Ventricular Noncompaction 7 is MIB1 (Mindbomb E3 Ubiquitin Protein Ligase 1). Affiliated tissues include heart, and related phenotypes are left ventricular noncompaction and left ventricular noncompaction cardiomyopathy

Description from OMIM: 615092
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Related Diseases for Left Ventricular Noncompaction 7

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Diseases in the Left Ventricular Noncompaction family:

Left Ventricular Noncompaction 1 Left Ventricular Noncompaction 2
Left Ventricular Noncompaction 7 Left Ventricular Noncompaction 8
Left Ventricular Noncompaction 10

Sources

Symptoms & Phenotypes for Left Ventricular Noncompaction 7

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Human phenotypes related to Left Ventricular Noncompaction 7:

33
# Description HPO Frequency HPO Source Accession
1 left ventricular noncompaction 33 HP:0030682
2 left ventricular noncompaction cardiomyopathy 33 HP:0011664

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
left ventricular noncompaction
prominent trabeculations

Clinical features from OMIM:

615092
Sources

Drugs & Therapeutics for Left Ventricular Noncompaction 7

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Search Clinical Trials , NIH Clinical Center for Left Ventricular Noncompaction 7

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Genetic Tests for Left Ventricular Noncompaction 7

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Genetic tests related to Left Ventricular Noncompaction 7:

# Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 7 30 MIB1
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Anatomical Context for Left Ventricular Noncompaction 7

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MalaCards organs/tissues related to Left Ventricular Noncompaction 7:

42
Heart
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Publications for Left Ventricular Noncompaction 7

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Articles related to Left Ventricular Noncompaction 7:

# Title Authors Year
1
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. ( 23314057 )
2013
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Variations for Left Ventricular Noncompaction 7

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UniProtKB/Swiss-Prot genetic disease variations for Left Ventricular Noncompaction 7:

76
# Symbol AA change Variation ID SNP ID
1 MIB1 p.Val943Phe VAR_069620 rs200035428

ClinVar genetic disease variations for Left Ventricular Noncompaction 7:

6 (show all 32)
# Gene Variation Type Significance SNP ID Assembly Location
1 MIB1 NM_020774.3(MIB1): c.2827G> T (p.Val943Phe) single nucleotide variant Likely pathogenic rs200035428 GRCh37 Chromosome 18, 19438554: 19438554
2 MIB1 NM_020774.3(MIB1): c.2827G> T (p.Val943Phe) single nucleotide variant Likely pathogenic rs200035428 GRCh38 Chromosome 18, 21858593: 21858593
3 MIB1 NM_020774.3(MIB1): c.1588C> T (p.Arg530Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs201850378 GRCh37 Chromosome 18, 19395685: 19395685
4 MIB1 NM_020774.3(MIB1): c.1588C> T (p.Arg530Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs201850378 GRCh38 Chromosome 18, 21815724: 21815724
5 MIB1 NM_020774.3(MIB1): c.636+7A> C single nucleotide variant Likely benign rs765948951 GRCh37 Chromosome 18, 19353696: 19353696
6 MIB1 NM_020774.3(MIB1): c.636+7A> C single nucleotide variant Likely benign rs765948951 GRCh38 Chromosome 18, 21773735: 21773735
7 MIB1 NM_020774.3(MIB1): c.2393+10A> G single nucleotide variant Benign rs11877131 GRCh37 Chromosome 18, 19427096: 19427096
8 MIB1 NM_020774.3(MIB1): c.2393+10A> G single nucleotide variant Benign rs11877131 GRCh38 Chromosome 18, 21847135: 21847135
9 MIB1 NM_020774.3(MIB1): c.1479+18A> G single nucleotide variant Benign rs12605999 GRCh37 Chromosome 18, 19383993: 19383993
10 MIB1 NM_020774.3(MIB1): c.1479+18A> G single nucleotide variant Benign rs12605999 GRCh38 Chromosome 18, 21804032: 21804032
11 MIB1 NM_020774.3(MIB1): c.1962+17A> G single nucleotide variant Benign rs139079482 GRCh37 Chromosome 18, 19418475: 19418475
12 MIB1 NM_020774.3(MIB1): c.1962+17A> G single nucleotide variant Benign rs139079482 GRCh38 Chromosome 18, 21838514: 21838514
13 MIB1 NM_020774.3(MIB1): c.3007A> G (p.Ile1003Val) single nucleotide variant Uncertain significance rs150652745 GRCh37 Chromosome 18, 19444613: 19444613
14 MIB1 NM_020774.3(MIB1): c.3007A> G (p.Ile1003Val) single nucleotide variant Uncertain significance rs150652745 GRCh38 Chromosome 18, 21864652: 21864652
15 MIB1 NM_020774.3(MIB1): c.843A> T (p.Thr281=) single nucleotide variant Likely benign rs137957940 GRCh37 Chromosome 18, 19359581: 19359581
16 MIB1 NM_020774.3(MIB1): c.843A> T (p.Thr281=) single nucleotide variant Likely benign rs137957940 GRCh38 Chromosome 18, 21779620: 21779620
17 MIB1 NM_020774.3(MIB1): c.2337C> T (p.Leu779=) single nucleotide variant Likely benign rs146430244 GRCh37 Chromosome 18, 19427030: 19427030
18 MIB1 NM_020774.3(MIB1): c.2337C> T (p.Leu779=) single nucleotide variant Likely benign rs146430244 GRCh38 Chromosome 18, 21847069: 21847069
19 MIB1 NM_020774.3(MIB1): c.138G> A (p.Glu46=) single nucleotide variant Likely benign rs376396687 GRCh38 Chromosome 18, 21741721: 21741721
20 MIB1 NM_020774.3(MIB1): c.138G> A (p.Glu46=) single nucleotide variant Likely benign rs376396687 GRCh37 Chromosome 18, 19321682: 19321682
21 MIB1 NM_020774.3(MIB1): c.1092+3A> G single nucleotide variant Likely benign rs372212766 GRCh38 Chromosome 18, 21791560: 21791560
22 MIB1 NM_020774.3(MIB1): c.1092+3A> G single nucleotide variant Likely benign rs372212766 GRCh37 Chromosome 18, 19371521: 19371521
23 MIB1 NM_020774.3(MIB1): c.1207G> T (p.Ala403Ser) single nucleotide variant Uncertain significance rs1555692389 GRCh38 Chromosome 18, 21798198: 21798198
24 MIB1 NM_020774.3(MIB1): c.1207G> T (p.Ala403Ser) single nucleotide variant Uncertain significance rs1555692389 GRCh37 Chromosome 18, 19378159: 19378159
25 MIB1 NM_020774.3(MIB1): c.1830-18T> C single nucleotide variant Benign rs201761957 GRCh38 Chromosome 18, 21838347: 21838347
26 MIB1 NM_020774.3(MIB1): c.1830-18T> C single nucleotide variant Benign rs201761957 GRCh37 Chromosome 18, 19418308: 19418308
27 MIB1 NM_020774.3(MIB1): c.1225A> G (p.Asn409Asp) single nucleotide variant Uncertain significance rs775320402 GRCh38 Chromosome 18, 21798216: 21798216
28 MIB1 NM_020774.3(MIB1): c.1225A> G (p.Asn409Asp) single nucleotide variant Uncertain significance rs775320402 GRCh37 Chromosome 18, 19378177: 19378177
29 MIB1 NM_020774.3(MIB1): c.1470C> T (p.Val490=) single nucleotide variant Likely benign rs141701856 GRCh38 Chromosome 18, 21804005: 21804005
30 MIB1 NM_020774.3(MIB1): c.1470C> T (p.Val490=) single nucleotide variant Likely benign rs141701856 GRCh37 Chromosome 18, 19383966: 19383966
31 MIB1 NM_020774.3(MIB1): c.1963-6G> A single nucleotide variant Benign rs186680702 GRCh38 Chromosome 18, 21843125: 21843125
32 MIB1 NM_020774.3(MIB1): c.1963-6G> A single nucleotide variant Benign rs186680702 GRCh37 Chromosome 18, 19423086: 19423086
Sources

Expression for Left Ventricular Noncompaction 7

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Search GEO for disease gene expression data for Left Ventricular Noncompaction 7.
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Pathways for Left Ventricular Noncompaction 7

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GO Terms for Left Ventricular Noncompaction 7

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Sources for Left Ventricular Noncompaction 7

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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