LVNC10
MCID: LFT018
MIFTS: 28

Left Ventricular Noncompaction 10 (LVNC10)

Categories: Blood diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Muscle diseases, Rare diseases
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Aliases & Classifications for Left Ventricular Noncompaction 10

MalaCards integrated aliases for Left Ventricular Noncompaction 10:

Name: Left Ventricular Noncompaction 10 57 73 28 5 71
Cardiomyopathy, Dilated, 1mm 57 71
Lvnc10 57 73
Ventricular Noncompaction, Left, Type 10 38
Left Ventricular Non-Compaction 10 73
Cardiomyopathy, Dilated 1mm 73
Dilated Cardiomyopathy 1mm 11
Cmd1mm 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
some patients require cardiac transplantation


Classifications:



External Ids:

Disease Ontology 11 DOID:0081158
OMIM® 57 615396
OMIM Phenotypic Series 57 PS604169,PS115200
UMLS 71 C3715165 C3809346

Summaries for Left Ventricular Noncompaction 10

UniProtKB/Swiss-Prot 73 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.

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.

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 C3). Affiliated tissues include heart and heart-ventricle, and related phenotypes are congestive heart failure and pulmonary arterial hypertension

Disease Ontology: 11 A dilated cardiomyopathy that has material basis in heterozygous mutation in the MYBPC3 gene on chromosome 11p11.

More information from OMIM: 615396 PS604169,PS115200

Related Diseases for Left Ventricular Noncompaction 10

Symptoms & Phenotypes for Left Ventricular Noncompaction 10

Human phenotypes related to Left Ventricular Noncompaction 10:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congestive heart failure 30 Very rare (1%) HP:0001635
2 pulmonary arterial hypertension 30 Very rare (1%) HP:0002092
3 syncope 30 Very rare (1%) HP:0001279
4 left ventricular noncompaction 30 Very rare (1%) HP:0030682
5 increased left ventricular end-diastolic volume 30 Very rare (1%) HP:0033755
6 dilated cardiomyopathy 30 HP:0001644

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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 28 MYBPC3

Anatomical Context for Left Ventricular Noncompaction 10

Organs/tissues related to Left Ventricular Noncompaction 10:

MalaCards : Heart
ODiseA: Heart-Ventricle, Heart

Publications for Left Ventricular Noncompaction 10

Articles related to Left Ventricular Noncompaction 10:

(show all 13)
# Title Authors PMID Year
1
Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. 57 5
21551322 2011
2
Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. 57 5
20215591 2010
3
Shared genetic causes of cardiac hypertrophy in children and adults. 57 5
18403758 2008
4
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. 57 5
15519027 2004
5
Novel mutations in sarcomeric protein genes in dilated cardiomyopathy. 57 5
12379228 2002
6
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype. 5
30924982 2019
7
New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. 5
23299917 2013
8
How do MYBPC3 mutations cause hypertrophic cardiomyopathy? 5
22057632 2012
9
Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. 5
20433692 2010
10
Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene. 57
18957093 2008
11
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. 57
19412328 2008
12
Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. 5
12818575 2003
13
Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. 5
9048664 1997

Variations for Left Ventricular Noncompaction 10

ClinVar genetic disease variations for Left Ventricular Noncompaction 10:

5 (show top 50) (show all 157)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MYBPC3 NM_000256.3(MYBPC3):c.2843A>C (p.Asn948Thr) SNV Pathogenic
8615 rs121909376 GRCh37: 11:47356655-47356655
GRCh38: 11:47335104-47335104
2 MYBPC3 NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) SNV Pathogenic
64613 rs397514751 GRCh37: 11:47353646-47353646
GRCh38: 11:47332095-47332095
3 overlap with 2 genes arr[hg19]11p11.2(47339995x2,47343435_47375684x1,47387184x2) CN LOSS Pathogenic
635764 GRCh37: 11:47343435-47375684
GRCh38:
4 MYBPC3 NM_000256.3(MYBPC3):c.927-9G>A SNV Pathogenic
42807 rs397516083 GRCh37: 11:47367930-47367930
GRCh38: 11:47346379-47346379
5 MYBPC3 NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) SNV Pathogenic
164078 rs727503188 GRCh37: 11:47359095-47359095
GRCh38: 11:47337544-47337544
6 MYBPC3 NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter) SNV Pathogenic
960010 rs367947846 GRCh37: 11:47367849-47367849
GRCh38: 11:47346298-47346298
7 MYBPC3 NM_000256.3(MYBPC3):c.1223+1G>T SNV Pathogenic
861189 rs730880639 GRCh37: 11:47365042-47365042
GRCh38: 11:47343491-47343491
8 MYBPC3 NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs) DUP Pathogenic
181156 rs730880720 GRCh37: 11:47354387-47354388
GRCh38: 11:47332836-47332837
9 MYBPC3 NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) SNV Pathogenic
64615 rs371401403 GRCh37: 11:47357547-47357547
GRCh38: 11:47335996-47335996
10 MYBPC3 NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) DEL Pathogenic
42663 rs397515990 GRCh37: 11:47356633-47356634
GRCh38: 11:47335082-47335083
11 MYBPC3 NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) SNV Pathogenic
8608 rs121909374 GRCh37: 11:47364129-47364129
GRCh38: 11:47342578-47342578
12 MYBPC3 NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) SNV Pathogenic
42744 rs397516042 GRCh37: 11:47353626-47353626
GRCh38: 11:47332075-47332075
13 MYBPC3 NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) SNV Pathogenic
Likely Pathogenic
36604 rs36211723 GRCh37: 11:47360071-47360071
GRCh38: 11:47338520-47338520
14 MYBPC3 NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) SNV Pathogenic
164113 rs200411226 GRCh37: 11:47364269-47364269
GRCh38: 11:47342718-47342718
15 MYBPC3 NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) SNV Pathogenic
Pathogenic
42792 rs397516074 GRCh37: 11:47369975-47369975
GRCh38: 11:47348424-47348424
16 MYBPC3 NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) SNV Pathogenic
42682 rs397516000 GRCh37: 11:47355233-47355233
GRCh38: 11:47333682-47333682
17 MYBPC3 NM_000256.3(MYBPC3):c.3190+5G>A SNV Pathogenic
155808 rs587782958 GRCh37: 11:47355103-47355103
GRCh38: 11:47333552-47333552
18 MYBPC3 NM_000256.3(MYBPC3):c.1928-2A>G SNV Pathogenic
42585 rs397515937 GRCh37: 11:47361343-47361343
GRCh38: 11:47339792-47339792
19 MYBPC3 NM_000256.3(MYBPC3):c.3330+5G>C SNV Pathogenic
42706 rs373746463 GRCh37: 11:47354740-47354740
GRCh38: 11:47333189-47333189
20 MYBPC3 NM_000256.3(MYBPC3):c.821+1G>A SNV Pathogenic
42791 rs397516073 GRCh37: 11:47369407-47369407
GRCh38: 11:47347856-47347856
21 MYBPC3 NM_000256.3(MYBPC3):c.1224-52G>A SNV Pathogenic
188544 rs786204336 GRCh37: 11:47364865-47364865
GRCh38: 11:47343314-47343314
22 MYBPC3 NM_000256.3(MYBPC3):c.26-2A>G SNV Likely Pathogenic
42644 rs376395543 GRCh37: 11:47373058-47373058
GRCh38: 11:47351507-47351507
23 MYBPC3 NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) SNV Likely Pathogenic
Not Provided
42540 rs375882485 GRCh37: 11:47364249-47364249
GRCh38: 11:47342698-47342698
24 MYBPC3 NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu) SNV Likely Pathogenic
618225 rs1269517446 GRCh37: 11:47364680-47364680
GRCh38: 11:47343129-47343129
25 MYBPC3 NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) SNV Likely Pathogenic
Uncertain Significance
161308 rs371488302 GRCh37: 11:47359343-47359343
GRCh38: 11:47337792-47337792
26 MYBPC3 NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) DEL Likely Pathogenic
42565 rs397515925 GRCh37: 11:47372895-47372905
GRCh38: 11:47351344-47351354
27 MYBPC3 NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys) SNV Likely Pathogenic
575705 rs752200396 GRCh37: 11:47360203-47360203
GRCh38: 11:47338652-47338652
28 MYBPC3 NM_000256.3(MYBPC3):c.2148+1G>T SNV Likely Pathogenic
417931 rs1060499604 GRCh37: 11:47360874-47360874
GRCh38: 11:47339323-47339323
29 MYBPC3 NM_000256.3(MYBPC3):c.2711_2737del (p.Tyr904_Gly912del) DEL Likely Pathogenic
978729 rs2095881732 GRCh37: 11:47357428-47357454
GRCh38: 11:47335877-47335903
30 MYBPC3 NM_000256.3(MYBPC3):c.3628-41_3628-17del DEL Likely Pathogenic
177677 rs36212066 GRCh37: 11:47353826-47353850
GRCh38: 11:47332275-47332299
31 MYBPC3 NM_000256.3(MYBPC3):c.2572A>C (p.Ser858Arg) SNV Likely Pathogenic
635763 rs1595843553 GRCh37: 11:47358972-47358972
GRCh38: 11:47337421-47337421
32 MYBPC3 NM_000256.3(MYBPC3):c.51dup (p.Ser18fs) DUP Likely Pathogenic
689322 rs1595850762 GRCh37: 11:47373030-47373031
GRCh38: 11:47351479-47351480
33 MYBPC3 NM_000256.3(MYBPC3):c.2432A>G (p.Lys811Arg) SNV Likely Pathogenic
689323 rs1338707268 GRCh37: 11:47359112-47359112
GRCh38: 11:47337561-47337561
34 MYBPC3 NM_000256.3(MYBPC3):c.121dup (p.Arg41fs) DUP Likely Pathogenic
689324 rs1248588905 GRCh37: 11:47372960-47372961
GRCh38: 11:47351409-47351410
35 MYBPC3 NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) SNV Conflicting Interpretations Of Pathogenicity
36602 rs181834806 GRCh37: 11:47364209-47364209
GRCh38: 11:47342658-47342658
36 MYBPC3 NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) SNV Conflicting Interpretations Of Pathogenicity
42576 rs371564200 GRCh37: 11:47362758-47362758
GRCh38: 11:47341207-47341207
37 MYBPC3 NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) SNV Uncertain Significance
42656 rs397515985 GRCh37: 11:47357437-47357437
GRCh38: 11:47335886-47335886
38 MYBPC3 NM_000256.3(MYBPC3):c.1549G>T (p.Ala517Ser) SNV Uncertain Significance
976255 rs1565627873 GRCh37: 11:47364204-47364204
GRCh38: 11:47342653-47342653
39 MYBPC3 NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn) SNV Uncertain Significance
161304 rs369300885 GRCh37: 11:47370065-47370065
GRCh38: 11:47348514-47348514
40 MYBPC3 NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) SNV Uncertain Significance
42810 rs374326087 GRCh37: 11:47367915-47367915
GRCh38: 11:47346364-47346364
41 MYBPC3 NM_000256.3(MYBPC3):c.237C>T (p.Tyr79=) SNV Uncertain Significance
454313 rs730880698 GRCh37: 11:47372845-47372845
GRCh38: 11:47351294-47351294
42 MYBPC3 NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu) SNV Uncertain Significance
427958 rs773819168 GRCh37: 11:47356715-47356715
GRCh38: 11:47335164-47335164
43 MYBPC3 NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) SNV Uncertain Significance
36601 rs193922377 GRCh37: 11:47364602-47364602
GRCh38: 11:47343051-47343051
44 MYBPC3 NM_000256.3(MYBPC3):c.1152C>T (p.Thr384=) SNV Uncertain Significance
878506 rs775237084 GRCh37: 11:47365114-47365114
GRCh38: 11:47343563-47343563
45 MYBPC3 NM_000256.3(MYBPC3):c.2765G>A (p.Gly922Glu) SNV Uncertain Significance
454320 rs751224775 GRCh37: 11:47356733-47356733
GRCh38: 11:47335182-47335182
46 MYBPC3 NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln) SNV Uncertain Significance
525001 rs11570060 GRCh37: 11:47369211-47369211
GRCh38: 11:47347660-47347660
47 MYBPC3 NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) SNV Uncertain Significance
Likely Benign
42577 rs377225516 GRCh37: 11:47372898-47372898
GRCh38: 11:47351347-47351347
48 MYBPC3 NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) SNV Uncertain Significance
161315 rs373730381 GRCh37: 11:47369442-47369442
GRCh38: 11:47347891-47347891
49 MYBPC3 NM_000256.3(MYBPC3):c.283A>C (p.Ile95Leu) SNV Uncertain Significance
877568 rs549758428 GRCh37: 11:47372799-47372799
GRCh38: 11:47351248-47351248
50 MYBPC3 NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) SNV Uncertain Significance
36607 rs193922380 GRCh37: 11:47356628-47356628
GRCh38: 11:47335077-47335077

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

73
# 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

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

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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