Left Ventricular Noncompaction 10 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 615396

MedGen ⁴² C3715165 C3809346 CN179849

MeSH ⁴⁴ D002311 D056830

SNOMED-CT via HPO ⁶⁹ 263681008 195021004 399020009

UMLS ⁷³ C3715165 C3809346

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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

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Related Diseases for Left Ventricular Noncompaction 10

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

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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

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Drugs & Therapeutics for Left Ventricular Noncompaction 10

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

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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

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Anatomical Context for Left Ventricular Noncompaction 10

MalaCards organs/tissues related to Left Ventricular Noncompaction 10:

⁴¹

Heart

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Publications for Left Ventricular Noncompaction 10

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Genes for Left Ventricular Noncompaction 10

Genes related to Left Ventricular Noncompaction 10 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MYBPC3	Myosin Binding Protein C, Cardiac	Protein Coding	1344.4	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	12379228 20215591 21551322 (more) 18403758 15519027 12818575

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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

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Expression for Left Ventricular Noncompaction 10

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

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Pathways for Left Ventricular Noncompaction 10

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GO Terms for Left Ventricular Noncompaction 10

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Sources for Left Ventricular Noncompaction 10

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