MCID: LFT020
MIFTS: 16

Left Ventricular Noncompaction 7

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

Aliases & Classifications for Left Ventricular Noncompaction 7

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:



External Ids:

OMIM 57 615092
MedGen 42 C3554496
MeSH 44 D056830
SNOMED-CT via HPO 69 263681008
UMLS 73 C3554496

Summaries for Left Ventricular Noncompaction 7

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 cardiomyopathy and left ventricular noncompaction

Description from OMIM: 615092

Related Diseases for Left Ventricular Noncompaction 7

Symptoms & Phenotypes for Left Ventricular Noncompaction 7

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 cardiomyopathy 32 HP:0011664
2 left ventricular noncompaction 32 HP:0030682

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 29 MIB1

Anatomical Context for Left Ventricular Noncompaction 7

MalaCards organs/tissues related to Left Ventricular Noncompaction 7:

41
Heart

Publications for Left Ventricular Noncompaction 7

Variations for Left Ventricular Noncompaction 7

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 28)
# 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.636+7A> C single nucleotide variant Likely benign rs765948951 GRCh37 Chromosome 18, 19353696: 19353696
4 MIB1 NM_020774.3(MIB1): c.636+7A> C single nucleotide variant Likely benign rs765948951 GRCh38 Chromosome 18, 21773735: 21773735
5 MIB1 NM_020774.3(MIB1): c.2393+10A> G single nucleotide variant Benign rs11877131 GRCh37 Chromosome 18, 19427096: 19427096
6 MIB1 NM_020774.3(MIB1): c.2393+10A> G single nucleotide variant Benign rs11877131 GRCh38 Chromosome 18, 21847135: 21847135
7 MIB1 NM_020774.3(MIB1): c.1479+18A> G single nucleotide variant Benign rs12605999 GRCh38 Chromosome 18, 21804032: 21804032
8 MIB1 NM_020774.3(MIB1): c.1479+18A> G single nucleotide variant Benign rs12605999 GRCh37 Chromosome 18, 19383993: 19383993
9 MIB1 NM_020774.3(MIB1): c.1962+17A> G single nucleotide variant Benign rs139079482 GRCh37 Chromosome 18, 19418475: 19418475
10 MIB1 NM_020774.3(MIB1): c.1962+17A> G single nucleotide variant Benign rs139079482 GRCh38 Chromosome 18, 21838514: 21838514
11 MIB1 NM_020774.3(MIB1): c.843A> T (p.Thr281=) single nucleotide variant Likely benign rs137957940 GRCh37 Chromosome 18, 19359581: 19359581
12 MIB1 NM_020774.3(MIB1): c.843A> T (p.Thr281=) single nucleotide variant Likely benign rs137957940 GRCh38 Chromosome 18, 21779620: 21779620
13 MIB1 NM_020774.3(MIB1): c.2337C> T (p.Leu779=) single nucleotide variant Likely benign rs146430244 GRCh37 Chromosome 18, 19427030: 19427030
14 MIB1 NM_020774.3(MIB1): c.2337C> T (p.Leu779=) single nucleotide variant Likely benign rs146430244 GRCh38 Chromosome 18, 21847069: 21847069
15 MIB1 NM_020774.3(MIB1): c.138G> A (p.Glu46=) single nucleotide variant Likely benign rs376396687 GRCh38 Chromosome 18, 21741721: 21741721
16 MIB1 NM_020774.3(MIB1): c.138G> A (p.Glu46=) single nucleotide variant Likely benign rs376396687 GRCh37 Chromosome 18, 19321682: 19321682
17 MIB1 NM_020774.3(MIB1): c.1092+3A> G single nucleotide variant Likely benign rs372212766 GRCh38 Chromosome 18, 21791560: 21791560
18 MIB1 NM_020774.3(MIB1): c.1092+3A> G single nucleotide variant Likely benign rs372212766 GRCh37 Chromosome 18, 19371521: 19371521
19 MIB1 NM_020774.3(MIB1): c.1207G> T (p.Ala403Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 18, 21798198: 21798198
20 MIB1 NM_020774.3(MIB1): c.1207G> T (p.Ala403Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 18, 19378159: 19378159
21 MIB1 NM_020774.3(MIB1): c.1830-18T> C single nucleotide variant Benign rs201761957 GRCh38 Chromosome 18, 21838347: 21838347
22 MIB1 NM_020774.3(MIB1): c.1830-18T> C single nucleotide variant Benign rs201761957 GRCh37 Chromosome 18, 19418308: 19418308
23 MIB1 NM_020774.3(MIB1): c.1225A> G (p.Asn409Asp) single nucleotide variant Uncertain significance rs775320402 GRCh38 Chromosome 18, 21798216: 21798216
24 MIB1 NM_020774.3(MIB1): c.1225A> G (p.Asn409Asp) single nucleotide variant Uncertain significance rs775320402 GRCh37 Chromosome 18, 19378177: 19378177
25 MIB1 NM_020774.3(MIB1): c.1470C> T (p.Val490=) single nucleotide variant Likely benign rs141701856 GRCh37 Chromosome 18, 19383966: 19383966
26 MIB1 NM_020774.3(MIB1): c.1470C> T (p.Val490=) single nucleotide variant Likely benign rs141701856 GRCh38 Chromosome 18, 21804005: 21804005
27 MIB1 NM_020774.3(MIB1): c.1963-6G> A single nucleotide variant Benign rs186680702 GRCh38 Chromosome 18, 21843125: 21843125
28 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

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