MCID: LFT018
MIFTS: 18

Left Ventricular Noncompaction 10

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

Aliases & Classifications for Left Ventricular Noncompaction 10

MalaCards integrated aliases for Left Ventricular Noncompaction 10:

Name: Left Ventricular Noncompaction 10 57 75 29 6 73
Cardiomyopathy, Dilated, 1mm 57 73
Lvnc10 57 75
Ventricular Noncompaction, Left, Type 10 ) 40
Left Ventricular Non-Compaction 10 75
Cardiomyopathy, Dilated 1mm 75
Cmd1mm 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
some patients require cardiac transplantation


HPO:

32
left ventricular noncompaction 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615396
SNOMED-CT via HPO 69 263681008 195021004 399020009

Summaries for Left Ventricular Noncompaction 10

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Left Ventricular Noncompaction 10:

32
# Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy 32 HP:0001644
2 left ventricular noncompaction 32 HP:0030682

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 29 MYBPC3

Anatomical Context for Left Ventricular Noncompaction 10

MalaCards organs/tissues related to Left Ventricular Noncompaction 10:

41
Heart

Publications for Left Ventricular Noncompaction 10

Variations for Left Ventricular Noncompaction 10

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

75
# 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 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909374 GRCh37 Chromosome 11, 47364129: 47364129
2 MYBPC3 NM_000256.3(MYBPC3): c.1624G> C (p.Glu542Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121909374 GRCh38 Chromosome 11, 47342578: 47342578
3 MYBPC3 NM_000256.3(MYBPC3): c.2843A> C (p.Asn948Thr) single nucleotide variant Pathogenic rs121909376 GRCh37 Chromosome 11, 47356655: 47356655
4 MYBPC3 NM_000256.3(MYBPC3): c.2843A> C (p.Asn948Thr) single nucleotide variant Pathogenic rs121909376 GRCh38 Chromosome 11, 47335104: 47335104
5 MYBPC3 NM_000256.3(MYBPC3): c.2308G> A (p.Asp770Asn) single nucleotide variant Pathogenic/Likely pathogenic rs36211723 GRCh37 Chromosome 11, 47360071: 47360071
6 MYBPC3 NM_000256.3(MYBPC3): c.2308G> A (p.Asp770Asn) single nucleotide variant Pathogenic/Likely pathogenic rs36211723 GRCh38 Chromosome 11, 47338520: 47338520
7 MYBPC3 NM_000256.3(MYBPC3): c.1928-2A> G single nucleotide variant Pathogenic rs397515937 GRCh37 Chromosome 11, 47361343: 47361343
8 MYBPC3 NM_000256.3(MYBPC3): c.1928-2A> G single nucleotide variant Pathogenic rs397515937 GRCh38 Chromosome 11, 47339792: 47339792
9 MYBPC3 NM_000256.3(MYBPC3): c.2864_2865delCT (p.Pro955Argfs) deletion Pathogenic/Likely pathogenic rs397515990 GRCh37 Chromosome 11, 47356633: 47356634
10 MYBPC3 NM_000256.3(MYBPC3): c.2864_2865delCT (p.Pro955Argfs) deletion Pathogenic/Likely pathogenic rs397515990 GRCh38 Chromosome 11, 47335082: 47335083
11 MYBPC3 NM_000256.3(MYBPC3): c.3330+5G> C single nucleotide variant Pathogenic rs373746463 GRCh37 Chromosome 11, 47354740: 47354740
12 MYBPC3 NM_000256.3(MYBPC3): c.3330+5G> C single nucleotide variant Pathogenic rs373746463 GRCh38 Chromosome 11, 47333189: 47333189
13 MYBPC3 NM_000256.3(MYBPC3): c.3811C> T (p.Arg1271Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516042 GRCh37 Chromosome 11, 47353626: 47353626
14 MYBPC3 NM_000256.3(MYBPC3): c.3811C> T (p.Arg1271Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397516042 GRCh38 Chromosome 11, 47332075: 47332075
15 MYBPC3 NM_000256.3(MYBPC3): c.927-9G> A single nucleotide variant Pathogenic/Likely pathogenic rs397516083 GRCh37 Chromosome 11, 47367930: 47367930
16 MYBPC3 NM_000256.3(MYBPC3): c.927-9G> A single nucleotide variant Pathogenic/Likely pathogenic rs397516083 GRCh38 Chromosome 11, 47346379: 47346379
17 MYBPC3 NM_000256.3(MYBPC3): c.3791G> T (p.Cys1264Phe) single nucleotide variant Likely pathogenic rs397514751 GRCh37 Chromosome 11, 47353646: 47353646
18 MYBPC3 NM_000256.3(MYBPC3): c.3791G> T (p.Cys1264Phe) single nucleotide variant Likely pathogenic rs397514751 GRCh38 Chromosome 11, 47332095: 47332095
19 MYBPC3 NM_000256.3(MYBPC3): c.1855G> A (p.Glu619Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200352299 GRCh37 Chromosome 11, 47362731: 47362731
20 MYBPC3 NM_000256.3(MYBPC3): c.1855G> A (p.Glu619Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200352299 GRCh38 Chromosome 11, 47341180: 47341180
21 MYBPC3 NM_000256.3(MYBPC3): c.3628-41_3628-17del25 deletion Conflicting interpretations of pathogenicity rs36212066 GRCh37 Chromosome 11, 47353826: 47353850
22 MYBPC3 NM_000256.3(MYBPC3): c.3628-41_3628-17del25 deletion Conflicting interpretations of pathogenicity rs36212066 GRCh38 Chromosome 11, 47332275: 47332299
23 MYBPC3 NM_000256.3(MYBPC3): c.1445C> T (p.Ala482Val) single nucleotide variant Uncertain significance rs370285346 GRCh37 Chromosome 11, 47364393: 47364393
24 MYBPC3 NM_000256.3(MYBPC3): c.1445C> T (p.Ala482Val) single nucleotide variant Uncertain significance rs370285346 GRCh38 Chromosome 11, 47342842: 47342842
25 MYBPC3 NM_000256.3(MYBPC3): c.2148+1G> T single nucleotide variant Likely pathogenic rs1060499604 GRCh38 Chromosome 11, 47339323: 47339323
26 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

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10 dbSNP
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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