LVNC10
MCID: LFT018
MIFTS: 18

Left Ventricular Noncompaction 10 (LVNC10)

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

Aliases & Classifications for Left Ventricular Noncompaction 10

MalaCards integrated aliases for Left Ventricular Noncompaction 10:

Name: Left Ventricular Noncompaction 10 58 76 30 6 74
Cardiomyopathy, Dilated, 1mm 58 74
Lvnc10 58 76
Ventricular Noncompaction, Left, Type 10 ) 41
Left Ventricular Non-Compaction 10 76
Cardiomyopathy, Dilated 1mm 76
Cmd1mm 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
some patients require cardiac transplantation


HPO:

33
left ventricular noncompaction 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615396
SNOMED-CT via HPO 70 195021004 263681008 399020009

Summaries for Left Ventricular Noncompaction 10

UniProtKB/Swiss-Prot : 76 Cardiomyopathy, dilated 1MM: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Left ventricular non-compaction 10: 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. LVNC10 is an autosomal dominant condition.

MalaCards based summary : Left Ventricular Noncompaction 10, is also known as cardiomyopathy, dilated, 1mm. An important gene associated with Left Ventricular Noncompaction 10 is MYBPC3 (Myosin Binding Protein C, Cardiac). Affiliated tissues include heart, and related phenotypes are dilated cardiomyopathy and left ventricular noncompaction

Description from OMIM: 615396

Related Diseases for Left Ventricular Noncompaction 10

Symptoms & Phenotypes for Left Ventricular Noncompaction 10

Human phenotypes related to Left Ventricular Noncompaction 10:

33
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 33 HP:0001644
2 left ventricular noncompaction 33 HP:0030682

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
cardiomyopathy, dilated
heart failure, progressive and sometimes fatal
ventricular flutter, nonsustained (in some patients)
left ventricular noncompaction at apex and/or midventricular wall (in some patients)

Clinical features from OMIM:

615396

Drugs & Therapeutics for Left Ventricular Noncompaction 10

Search Clinical Trials , NIH Clinical Center for Left Ventricular Noncompaction 10

Genetic Tests for Left Ventricular Noncompaction 10

Genetic tests related to Left Ventricular Noncompaction 10:

# Genetic test Affiliating Genes
1 Left Ventricular Noncompaction 10 30 MYBPC3

Anatomical Context for Left Ventricular Noncompaction 10

MalaCards organs/tissues related to Left Ventricular Noncompaction 10:

42
Heart

Publications for Left Ventricular Noncompaction 10

Variations for Left Ventricular Noncompaction 10

UniProtKB/Swiss-Prot genetic disease variations for Left Ventricular Noncompaction 10:

76
# Symbol AA change Variation ID SNP ID
1 MYBPC3 p.Gly490Arg VAR_029400 rs200625851
2 MYBPC3 p.Ala833Thr VAR_029417 rs199865688
3 MYBPC3 p.Pro873Leu VAR_070452 rs371401403
4 MYBPC3 p.Cys1264Phe VAR_070455 rs397514751

ClinVar genetic disease variations for Left Ventricular Noncompaction 10:

6 (show all 46)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYBPC3 NM_000256.3(MYBPC3): c.2311G> A (p.Val771Met) single nucleotide variant Conflicting interpretations of pathogenicity rs371488302 GRCh37 Chromosome 11, 47359343: 47359343
2 MYBPC3 NM_000256.3(MYBPC3): c.2311G> A (p.Val771Met) single nucleotide variant Conflicting interpretations of pathogenicity rs371488302 GRCh38 Chromosome 11, 47337792: 47337792
3 MYBPC3 NM_000256.3(MYBPC3): c.1855G> A (p.Glu619Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200352299 GRCh37 Chromosome 11, 47362731: 47362731
4 MYBPC3 NM_000256.3(MYBPC3): c.1855G> A (p.Glu619Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200352299 GRCh38 Chromosome 11, 47341180: 47341180
5 MYBPC3 NM_000256.3(MYBPC3) deletion Conflicting interpretations of pathogenicity rs36212066 GRCh37 Chromosome 11, 47353826: 47353850
6 MYBPC3 NM_000256.3(MYBPC3) deletion Conflicting interpretations of pathogenicity rs36212066 GRCh38 Chromosome 11, 47332275: 47332299
7 MYBPC3 NM_000256.3(MYBPC3): c.1445C> T (p.Ala482Val) single nucleotide variant Uncertain significance rs370285346 GRCh37 Chromosome 11, 47364393: 47364393
8 MYBPC3 NM_000256.3(MYBPC3): c.1445C> T (p.Ala482Val) single nucleotide variant Uncertain significance rs370285346 GRCh38 Chromosome 11, 47342842: 47342842
9 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh37 Chromosome 11, 47364129: 47364129
10 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic rs121909374 GRCh38 Chromosome 11, 47342578: 47342578
11 MYBPC3 NM_000256.3(MYBPC3): c.2843A> C (p.Asn948Thr) single nucleotide variant Pathogenic rs121909376 GRCh37 Chromosome 11, 47356655: 47356655
12 MYBPC3 NM_000256.3(MYBPC3): c.2843A> C (p.Asn948Thr) single nucleotide variant Pathogenic rs121909376 GRCh38 Chromosome 11, 47335104: 47335104
13 MYBPC3 NM_000256.3(MYBPC3): c.1544A> G (p.Asn515Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs181834806 GRCh37 Chromosome 11, 47364209: 47364209
14 MYBPC3 NM_000256.3(MYBPC3): c.1544A> G (p.Asn515Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs181834806 GRCh38 Chromosome 11, 47342658: 47342658
15 MYBPC3 NM_000256.3(MYBPC3): c.2308G> A (p.Asp770Asn) single nucleotide variant Pathogenic/Likely pathogenic rs36211723 GRCh37 Chromosome 11, 47360071: 47360071
16 MYBPC3 NM_000256.3(MYBPC3): c.2308G> A (p.Asp770Asn) single nucleotide variant Pathogenic/Likely pathogenic rs36211723 GRCh38 Chromosome 11, 47338520: 47338520
17 MYBPC3 NM_000256.3(MYBPC3): c.2870C> G (p.Thr957Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs193922380 GRCh37 Chromosome 11, 47356628: 47356628
18 MYBPC3 NM_000256.3(MYBPC3): c.2870C> G (p.Thr957Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs193922380 GRCh38 Chromosome 11, 47335077: 47335077
19 MYBPC3 NM_000256.3(MYBPC3): c.529C> T (p.Arg177Cys) single nucleotide variant Uncertain significance rs193922385 GRCh37 Chromosome 11, 47371450: 47371450
20 MYBPC3 NM_000256.3(MYBPC3): c.529C> T (p.Arg177Cys) single nucleotide variant Uncertain significance rs193922385 GRCh38 Chromosome 11, 47349899: 47349899
21 MYBPC3 NM_000256.3(MYBPC3): c.1468G> A (p.Gly490Arg) single nucleotide variant Uncertain significance rs200625851 GRCh37 Chromosome 11, 47364285: 47364285
22 MYBPC3 NM_000256.3(MYBPC3): c.1468G> A (p.Gly490Arg) single nucleotide variant Uncertain significance rs200625851 GRCh38 Chromosome 11, 47342734: 47342734
23 MYBPC3 NM_000256.3(MYBPC3): c.1468G> A (p.Gly490Arg) single nucleotide variant Uncertain significance rs200625851 NCBI36 Chromosome 11, 47320861: 47320861
24 MYBPC3 NM_000256.3(MYBPC3): c.1928-2A> G single nucleotide variant Pathogenic rs397515937 GRCh37 Chromosome 11, 47361343: 47361343
25 MYBPC3 NM_000256.3(MYBPC3): c.1928-2A> G single nucleotide variant Pathogenic rs397515937 GRCh38 Chromosome 11, 47339792: 47339792
26 MYBPC3 NM_000256.3(MYBPC3): c.2197C> T (p.Arg733Cys) single nucleotide variant Uncertain significance rs397515956 GRCh37 Chromosome 11, 47360182: 47360182
27 MYBPC3 NM_000256.3(MYBPC3): c.2197C> T (p.Arg733Cys) single nucleotide variant Uncertain significance rs397515956 GRCh38 Chromosome 11, 47338631: 47338631
28 MYBPC3 NM_000256.3(MYBPC3): c.2320G> A (p.Ala774Thr) single nucleotide variant Uncertain significance rs368104687 GRCh37 Chromosome 11, 47359334: 47359334
29 MYBPC3 NM_000256.3(MYBPC3): c.2320G> A (p.Ala774Thr) single nucleotide variant Uncertain significance rs368104687 GRCh38 Chromosome 11, 47337783: 47337783
30 MYBPC3 NM_000256.3(MYBPC3): c.2497G> A (p.Ala833Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199865688 GRCh37 Chromosome 11, 47359047: 47359047
31 MYBPC3 NM_000256.3(MYBPC3): c.2497G> A (p.Ala833Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs199865688 GRCh38 Chromosome 11, 47337496: 47337496
32 MYBPC3 NM_000256.3(MYBPC3): c.2864_2865delCT (p.Pro955Argfs) deletion Pathogenic/Likely pathogenic rs397515990 GRCh37 Chromosome 11, 47356633: 47356634
33 MYBPC3 NM_000256.3(MYBPC3): c.2864_2865delCT (p.Pro955Argfs) deletion Pathogenic/Likely pathogenic rs397515990 GRCh38 Chromosome 11, 47335082: 47335083
34 MYBPC3 NM_000256.3(MYBPC3): c.3330+5G> C single nucleotide variant Pathogenic rs373746463 GRCh37 Chromosome 11, 47354740: 47354740
35 MYBPC3 NM_000256.3(MYBPC3): c.3330+5G> C single nucleotide variant Pathogenic rs373746463 GRCh38 Chromosome 11, 47333189: 47333189
36 MYBPC3 NM_000256.3(MYBPC3): c.3811C> T (p.Arg1271Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516042 GRCh37 Chromosome 11, 47353626: 47353626
37 MYBPC3 NM_000256.3(MYBPC3): c.3811C> T (p.Arg1271Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516042 GRCh38 Chromosome 11, 47332075: 47332075
38 MYBPC3 NM_000256.3(MYBPC3): c.927-9G> A single nucleotide variant Pathogenic rs397516083 GRCh37 Chromosome 11, 47367930: 47367930
39 MYBPC3 NM_000256.3(MYBPC3): c.927-9G> A single nucleotide variant Pathogenic rs397516083 GRCh38 Chromosome 11, 47346379: 47346379
40 MYBPC3 NM_000256.3(MYBPC3): c.3791G> T (p.Cys1264Phe) single nucleotide variant Likely pathogenic rs397514751 GRCh37 Chromosome 11, 47353646: 47353646
41 MYBPC3 NM_000256.3(MYBPC3): c.3791G> T (p.Cys1264Phe) single nucleotide variant Likely pathogenic rs397514751 GRCh38 Chromosome 11, 47332095: 47332095
42 MYBPC3 NM_000256.3(MYBPC3): c.2618C> T (p.Pro873Leu) single nucleotide variant Uncertain significance rs371401403 GRCh37 Chromosome 11, 47357547: 47357547
43 MYBPC3 NM_000256.3(MYBPC3): c.2618C> T (p.Pro873Leu) single nucleotide variant Uncertain significance rs371401403 GRCh38 Chromosome 11, 47335996: 47335996
44 MYBPC3 NM_000256.3(MYBPC3): c.2618C> T (p.Pro873Leu) single nucleotide variant Uncertain significance rs371401403 NCBI36 Chromosome 11, 47314123: 47314123
45 MYBPC3 NM_000256.3(MYBPC3): c.2148+1G> T single nucleotide variant Likely pathogenic rs1060499604 GRCh38 Chromosome 11, 47339323: 47339323
46 MYBPC3 NM_000256.3(MYBPC3): c.2148+1G> T single nucleotide variant Likely pathogenic rs1060499604 GRCh37 Chromosome 11, 47360874: 47360874

Expression for Left Ventricular Noncompaction 10

Search GEO for disease gene expression data for Left Ventricular Noncompaction 10.

Pathways for Left Ventricular Noncompaction 10

GO Terms for Left Ventricular Noncompaction 10

Sources for Left Ventricular Noncompaction 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....