Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
LVNC7
MCID: LFT020
MIFTS: 16

Left Ventricular Noncompaction 7 (LVNC7)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes
Sources

Aliases & Classifications for Left Ventricular Noncompaction 7

About this section

MalaCards integrated aliases for Left Ventricular Noncompaction 7:

Name: Left Ventricular Noncompaction 7 57 75 29 13 6 73
Lvnc7 57 75
Ventricular Noncompaction, Left, Type 7 40
Left Ventricular Non-Compaction 7 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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 57 615092
MedGen 42 C3554496
MeSH 44 D056830
SNOMED-CT via HPO 69 263681008 441541008 253308005
UMLS 73 C3554496
Sources

Summaries for Left Ventricular Noncompaction 7

About this section
UniProtKB/Swiss-Prot : 75 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
Sources

Related Diseases for Left Ventricular Noncompaction 7

About this section

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

About this section

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Heart:
left ventricular noncompaction
prominent trabeculations


Clinical features from OMIM:

615092

Human phenotypes related to Left Ventricular Noncompaction 7:

32
# Description HPO Frequency HPO Source Accession
1 left ventricular noncompaction 32 HP:0030682
2 left ventricular noncompaction cardiomyopathy 32 HP:0011664
Sources

Drugs & Therapeutics for Left Ventricular Noncompaction 7

About this section

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

Sources

Genetic Tests for Left Ventricular Noncompaction 7

About this section

Genetic tests related to Left Ventricular Noncompaction 7:

# Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 7 29 MIB1
Sources

Anatomical Context for Left Ventricular Noncompaction 7

About this section

MalaCards organs/tissues related to Left Ventricular Noncompaction 7:

41
Heart
Sources

Publications for Left Ventricular Noncompaction 7

About this section
Sources

Variations for Left Ventricular Noncompaction 7

About this section

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

75
# 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 30)
# 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.843A> T (p.Thr281=) single nucleotide variant Likely benign rs137957940 GRCh37 Chromosome 18, 19359581: 19359581
14 MIB1 NM_020774.3(MIB1): c.843A> T (p.Thr281=) single nucleotide variant Likely benign rs137957940 GRCh38 Chromosome 18, 21779620: 21779620
15 MIB1 NM_020774.3(MIB1): c.2337C> T (p.Leu779=) single nucleotide variant Likely benign rs146430244 GRCh37 Chromosome 18, 19427030: 19427030
16 MIB1 NM_020774.3(MIB1): c.2337C> T (p.Leu779=) single nucleotide variant Likely benign rs146430244 GRCh38 Chromosome 18, 21847069: 21847069
17 MIB1 NM_020774.3(MIB1): c.138G> A (p.Glu46=) single nucleotide variant Likely benign rs376396687 GRCh38 Chromosome 18, 21741721: 21741721
18 MIB1 NM_020774.3(MIB1): c.138G> A (p.Glu46=) single nucleotide variant Likely benign rs376396687 GRCh37 Chromosome 18, 19321682: 19321682
19 MIB1 NM_020774.3(MIB1): c.1092+3A> G single nucleotide variant Likely benign rs372212766 GRCh38 Chromosome 18, 21791560: 21791560
20 MIB1 NM_020774.3(MIB1): c.1092+3A> G single nucleotide variant Likely benign rs372212766 GRCh37 Chromosome 18, 19371521: 19371521
21 MIB1 NM_020774.3(MIB1): c.1207G> T (p.Ala403Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 19378159: 19378159
22 MIB1 NM_020774.3(MIB1): c.1207G> T (p.Ala403Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 21798198: 21798198
23 MIB1 NM_020774.3(MIB1): c.1830-18T> C single nucleotide variant Benign rs201761957 GRCh38 Chromosome 18, 21838347: 21838347
24 MIB1 NM_020774.3(MIB1): c.1830-18T> C single nucleotide variant Benign rs201761957 GRCh37 Chromosome 18, 19418308: 19418308
25 MIB1 NM_020774.3(MIB1): c.1225A> G (p.Asn409Asp) single nucleotide variant Uncertain significance rs775320402 GRCh38 Chromosome 18, 21798216: 21798216
26 MIB1 NM_020774.3(MIB1): c.1225A> G (p.Asn409Asp) single nucleotide variant Uncertain significance rs775320402 GRCh37 Chromosome 18, 19378177: 19378177
27 MIB1 NM_020774.3(MIB1): c.1470C> T (p.Val490=) single nucleotide variant Likely benign rs141701856 GRCh38 Chromosome 18, 21804005: 21804005
28 MIB1 NM_020774.3(MIB1): c.1470C> T (p.Val490=) single nucleotide variant Likely benign rs141701856 GRCh37 Chromosome 18, 19383966: 19383966
29 MIB1 NM_020774.3(MIB1): c.1963-6G> A single nucleotide variant Benign rs186680702 GRCh38 Chromosome 18, 21843125: 21843125
30 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

About this section
Search GEO for disease gene expression data for Left Ventricular Noncompaction 7.
Sources

Pathways for Left Ventricular Noncompaction 7

About this section
Sources

GO Terms for Left Ventricular Noncompaction 7

About this section
Sources

Sources for Left Ventricular Noncompaction 7

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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
Content
Loading form....