LVNC7
MCID: LFT020
MIFTS: 20

Left Ventricular Noncompaction 7 (LVNC7)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Left Ventricular Noncompaction 7

MalaCards integrated aliases for Left Ventricular Noncompaction 7:

Name: Left Ventricular Noncompaction 7 57 73 28 5 71
Lvnc7 57 73
Ventricular Noncompaction, Left, Type 7 38
Left Ventricular Non-Compaction 7 73

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

OMIM® 57 615092
OMIM Phenotypic Series 57 PS604169
MeSH 43 D056830
MedGen 40 C3554496
UMLS 71 C3554496

Summaries for Left Ventricular Noncompaction 7

UniProtKB/Swiss-Prot: 73 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 (MIB E3 Ubiquitin Protein Ligase 1). Affiliated tissues include heart and heart-ventricle, and related phenotypes are left ventricular noncompaction and left ventricular noncompaction cardiomyopathy

More information from OMIM: 615092 PS604169

Related Diseases for Left Ventricular Noncompaction 7

Symptoms & Phenotypes for Left Ventricular Noncompaction 7

Human phenotypes related to Left Ventricular Noncompaction 7:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 left ventricular noncompaction 30 HP:0030682
2 left ventricular noncompaction cardiomyopathy 30 HP:0011664

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Cardiovascular Heart:
left ventricular noncompaction
prominent trabeculations

Clinical features from OMIM®:

615092 (Updated 08-Dec-2022)

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 28 MIB1

Anatomical Context for Left Ventricular Noncompaction 7

Organs/tissues related to Left Ventricular Noncompaction 7:

MalaCards : Heart
ODiseA: Heart-Ventricle, Heart

Publications for Left Ventricular Noncompaction 7

Articles related to Left Ventricular Noncompaction 7:

# Title Authors PMID Year
1
Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. 57 5
23314057 2013
2
Implantable Cardioverter Defibrillators in Infants and Toddlers: Indications, Placement, Programming, and Outcomes. 62
35089800 2022

Variations for Left Ventricular Noncompaction 7

ClinVar genetic disease variations for Left Ventricular Noncompaction 7:

5 (show all 19)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MIB1 NM_020774.4(MIB1):c.2827G>T (p.Val943Phe) SNV Pathogenic
40091 rs200035428 GRCh37: 18:19438554-19438554
GRCh38: 18:21858593-21858593
2 MIB1 NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) SNV Likely Pathogenic
40092 rs201850378 GRCh37: 18:19395685-19395685
GRCh38: 18:21815724-21815724
3 MIB1 NM_020774.4(MIB1):c.2878C>T (p.Gln960Ter) SNV Likely Pathogenic
1028190 rs1430105900 GRCh37: 18:19438605-19438605
GRCh38: 18:21858644-21858644
4 MIB1 NM_020774.4(MIB1):c.2039del (p.Gln680fs) DEL Likely Pathogenic
1334019 GRCh37: 18:19423168-19423168
GRCh38: 18:21843207-21843207
5 MIB1 NM_020774.4(MIB1):c.2779+1G>C SNV Uncertain Significance
1032855 rs570099048 GRCh37: 18:19437205-19437205
GRCh38: 18:21857244-21857244
6 MIB1 NM_020774.4(MIB1):c.442G>A (p.Ala148Thr) SNV Uncertain Significance
1699081 GRCh37: 18:19348624-19348624
GRCh38: 18:21768663-21768663
7 MIB1 NM_020774.4(MIB1):c.1207G>T (p.Ala403Ser) SNV Uncertain Significance
518272 rs1555692389 GRCh37: 18:19378159-19378159
GRCh38: 18:21798198-21798198
8 MIB1 NM_020774.4(MIB1):c.3007A>G (p.Ile1003Val) SNV Uncertain Significance
450378 rs150652745 GRCh37: 18:19444613-19444613
GRCh38: 18:21864652-21864652
9 MIB1 NM_020774.4(MIB1):c.636+7A>C SNV Likely Benign
392518 rs765948951 GRCh37: 18:19353696-19353696
GRCh38: 18:21773735-21773735
10 MIB1 NM_020774.4(MIB1):c.138G>A (p.Glu46=) SNV Likely Benign
518270 rs376396687 GRCh37: 18:19321682-19321682
GRCh38: 18:21741721-21741721
11 MIB1 NM_020774.4(MIB1):c.1470C>T (p.Val490=) SNV Likely Benign
522210 rs141701856 GRCh37: 18:19383966-19383966
GRCh38: 18:21804005-21804005
12 MIB1 NM_020774.4(MIB1):c.843A>T (p.Thr281=) SNV Likely Benign
506382 rs137957940 GRCh37: 18:19359581-19359581
GRCh38: 18:21779620-21779620
13 MIB1 NM_020774.4(MIB1):c.2337C>T (p.Leu779=) SNV Likely Benign
507622 rs146430244 GRCh37: 18:19427030-19427030
GRCh38: 18:21847069-21847069
14 MIB1 NM_020774.4(MIB1):c.1092+3A>G SNV Likely Benign
518271 rs372212766 GRCh37: 18:19371521-19371521
GRCh38: 18:21791560-21791560
15 MIB1 NM_020774.4(MIB1):c.1830-18T>C SNV Benign
518273 rs201761957 GRCh37: 18:19418308-19418308
GRCh38: 18:21838347-21838347
16 MIB1 NM_020774.4(MIB1):c.1479+18A>G SNV Benign
384817 rs12605999 GRCh37: 18:19383993-19383993
GRCh38: 18:21804032-21804032
17 MIB1 NM_020774.4(MIB1):c.1962+17A>G SNV Benign
384701 rs139079482 GRCh37: 18:19418475-19418475
GRCh38: 18:21838514-21838514
18 MIB1 NM_020774.4(MIB1):c.2393+10A>G SNV Benign
384702 rs11877131 GRCh37: 18:19427096-19427096
GRCh38: 18:21847135-21847135
19 MIB1 NM_020774.4(MIB1):c.1963-6G>A SNV Benign
522298 rs186680702 GRCh37: 18:19423086-19423086
GRCh38: 18:21843125-21843125

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

73
# Symbol AA change Variation ID SNP ID
1 MIB1 p.Val943Phe VAR_069620 rs200035428

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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