LVNC2
MCID: LFT011
MIFTS: 19

Left Ventricular Noncompaction 2 (LVNC2)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Left Ventricular Noncompaction 2

MalaCards integrated aliases for Left Ventricular Noncompaction 2:

Name: Left Ventricular Noncompaction 2 57 12 5 71
Lvnc2 57

Classifications:



External Ids:

OMIM® 57 609470
OMIM Phenotypic Series 57 PS604169
MedGen 40 C1836118
UMLS 71 C1836118

Summaries for Left Ventricular Noncompaction 2

MalaCards based summary: Left Ventricular Noncompaction 2, also known as lvnc2, is related to tibial muscular dystrophy, tardive and tibial muscular dystrophy. An important gene associated with Left Ventricular Noncompaction 2 is LVNC2 (Noncompaction Of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2). Related phenotype is left ventricular noncompaction cardiomyopathy.

More information from OMIM: 609470 PS604169

Related Diseases for Left Ventricular Noncompaction 2

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

Diseases related to Left Ventricular Noncompaction 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 tibial muscular dystrophy, tardive 9.8 TTN-AS1 TTN
2 tibial muscular dystrophy 9.8 TTN-AS1 TTN
3 muscular dystrophy 9.8 TTN-AS1 TTN
4 muscular dystrophy, limb-girdle, autosomal recessive 10 9.8 TTN-AS1 TTN
5 salih myopathy 9.8 TTN-AS1 TTN
6 cardiomyopathy, familial hypertrophic, 9 9.8 TTN-AS1 TTN
7 autosomal recessive limb-girdle muscular dystrophy type 2j 9.8 TTN-AS1 TTN
8 limb-girdle muscular dystrophy 9.8 TTN-AS1 TTN
9 cardiomyopathy, dilated, 1g 9.8 TTN-AS1 TTN
10 arrhythmogenic right ventricular dysplasia, familial, 1 9.8 TTN-AS1 TTN
11 cardiomyopathy, dilated, 1b 9.8 TTN-AS1 TTN
12 myopathy, myofibrillar, 9, with early respiratory failure 9.8 TTN-AS1 TTN
13 multiminicore disease 9.8 TTN-AS1 TTN
14 cardiomyopathy, dilated, 1h 9.8 TTN-AS1 TTN
15 cardiomyopathy, dilated, 1a 9.8 TTN-AS1 TTN
16 third-degree atrioventricular block 9.8 TTN-AS1 TTN
17 cardiomyopathy, dilated, 1e 9.8 TTN-AS1 TTN
18 batten-turner congenital myopathy 9.8 TTN-AS1 TTN
19 wolff-parkinson-white syndrome 9.8 TTN-AS1 TTN
20 centronuclear myopathy 9.7 TTN-AS1 TTN
21 orthostatic intolerance 9.7 TTN-AS1 TTN
22 restrictive cardiomyopathy 9.7 TTN-AS1 TTN
23 muscular dystrophy, congenital, lmna-related 9.7 TTN-AS1 TTN
24 neuromuscular disease 9.7 TTN-AS1 TTN
25 sudden infant death syndrome 9.7 TTN-AS1 TTN
26 cerebral palsy 9.6 TTN-AS1 TTN
27 scoliosis 9.6 TTN-AS1 TTN
28 left ventricular noncompaction 9.5 TTN-AS1 TTN LVNC2
29 hypertrophic cardiomyopathy 9.5 TTN-AS1 TTN

Graphical network of the top 20 diseases related to Left Ventricular Noncompaction 2:



Diseases related to Left Ventricular Noncompaction 2

Symptoms & Phenotypes for Left Ventricular Noncompaction 2

Human phenotypes related to Left Ventricular Noncompaction 2:

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

Clinical features from OMIM®:

609470 (Updated 08-Dec-2022)

Drugs & Therapeutics for Left Ventricular Noncompaction 2

Search Clinical Trials, NIH Clinical Center for Left Ventricular Noncompaction 2

Genetic Tests for Left Ventricular Noncompaction 2

Anatomical Context for Left Ventricular Noncompaction 2

Publications for Left Ventricular Noncompaction 2

Articles related to Left Ventricular Noncompaction 2:

# Title Authors PMID Year
1
Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15. 57
15173023 2004
2
Isolated noncompaction of the left ventricular myocardium in the adult is an autosomal dominant disorder in the majority of patients. 57
12749056 2003

Variations for Left Ventricular Noncompaction 2

ClinVar genetic disease variations for Left Ventricular Noncompaction 2:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTN-AS1, TTN NM_001267550.2(TTN):c.75727G>T (p.Glu25243Ter) SNV Likely Pathogenic
265826 rs1114167338 GRCh37: 2:179435132-179435132
GRCh38: 2:178570405-178570405
2 TTN NM_001267550.2(TTN):c.42872C>T (p.Ala14291Val) SNV Uncertain Significance
1031089 rs746486506 GRCh37: 2:179498214-179498214
GRCh38: 2:178633487-178633487
3 TTN-AS1, TTN NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met) SNV Uncertain Significance
203088 rs368945564 GRCh37: 2:179396364-179396364
GRCh38: 2:178531637-178531637

Expression for Left Ventricular Noncompaction 2

Search GEO for disease gene expression data for Left Ventricular Noncompaction 2.

Pathways for Left Ventricular Noncompaction 2

GO Terms for Left Ventricular Noncompaction 2

Sources for Left Ventricular Noncompaction 2

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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