LVNC7
MCID: LFT020
MIFTS: 16

Left Ventricular Noncompaction 7 (LVNC7)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Left Ventricular Noncompaction 7

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:



External Ids:

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

Summaries for Left Ventricular Noncompaction 7

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

Related Diseases for Left Ventricular Noncompaction 7

Symptoms & Phenotypes for Left Ventricular Noncompaction 7

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

Drugs & Therapeutics for Left Ventricular Noncompaction 7

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

Genetic Tests for Left Ventricular Noncompaction 7

Genetic tests related to Left Ventricular Noncompaction 7:

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

Anatomical Context for Left Ventricular Noncompaction 7

MalaCards organs/tissues related to Left Ventricular Noncompaction 7:

42
Heart

Publications for Left Ventricular Noncompaction 7

Variations for Left Ventricular Noncompaction 7

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 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 GRCh38 Chromosome 18, 21779620: 21779620
14 MIB1 NM_020774.3(MIB1): c.843A> T (p.Thr281=) single nucleotide variant Likely benign rs137957940 GRCh37 Chromosome 18, 19359581: 19359581
15 MIB1 NM_020774.3(MIB1): c.2337C> T (p.Leu779=) single nucleotide variant Likely benign rs146430244 GRCh38 Chromosome 18, 21847069: 21847069
16 MIB1 NM_020774.3(MIB1): c.2337C> T (p.Leu779=) single nucleotide variant Likely benign rs146430244 GRCh37 Chromosome 18, 19427030: 19427030
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 rs1555692389 GRCh37 Chromosome 18, 19378159: 19378159
22 MIB1 NM_020774.3(MIB1): c.1207G> T (p.Ala403Ser) single nucleotide variant Uncertain significance rs1555692389 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

Expression for Left Ventricular Noncompaction 7

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

Pathways for Left Ventricular Noncompaction 7

GO Terms for Left Ventricular Noncompaction 7

Sources for Left Ventricular Noncompaction 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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