Left Ventricular Noncompaction 7 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Left Ventricular Noncompaction 7

MalaCards integrated aliases for Left Ventricular Noncompaction 7:

Name: Left Ventricular Noncompaction 7 ⁵⁷ ⁷⁵ ²⁹ ¹³ ⁶ ⁷³

Lvnc7 ⁵⁷ ⁷⁵

Ventricular Noncompaction, Left, Type 7 ⁴⁰

Left Ventricular Non-Compaction 7 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

HPO:

³²

left ventricular noncompaction 7:
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 615092

MedGen ⁴² C3554496

MeSH ⁴⁴ D056830

SNOMED-CT via HPO ⁶⁹ 263681008

UMLS ⁷³ C3554496

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Summaries for Left Ventricular Noncompaction 7

UniProtKB/Swiss-Prot : ⁷⁵ Left ventricular non-compaction 7: 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. LVNC7 is an autosomal dominant condition.

MalaCards based summary : Left Ventricular Noncompaction 7, is also known as lvnc7. An important gene associated with Left Ventricular Noncompaction 7 is MIB1 (Mindbomb E3 Ubiquitin Protein Ligase 1). Affiliated tissues include heart, and related phenotypes are left ventricular noncompaction cardiomyopathy and left ventricular noncompaction

Description from OMIM: 615092

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Related Diseases for Left Ventricular Noncompaction 7

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 7

Symptoms via clinical synopsis from OMIM:

⁵⁷

Cardiovascular Heart:
left ventricular noncompaction
prominent trabeculations

Clinical features from OMIM:

615092

Human phenotypes related to Left Ventricular Noncompaction 7:

³²

#	Description	HPO Frequency	HPO Source Accession
1	left ventricular noncompaction cardiomyopathy ³²		HP:0011664
2	left ventricular noncompaction ³²		HP:0030682

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Drugs & Therapeutics for Left Ventricular Noncompaction 7

Search Clinical Trials , NIH Clinical Center for Left Ventricular Noncompaction 7

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Genetic Tests for Left Ventricular Noncompaction 7

Genetic tests related to Left Ventricular Noncompaction 7:

#	Genetic test	Affiliating Genes
1	Left Ventricular Noncompaction 7 ²⁹	MIB1

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Anatomical Context for Left Ventricular Noncompaction 7

MalaCards organs/tissues related to Left Ventricular Noncompaction 7:

⁴¹

Heart

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Publications for Left Ventricular Noncompaction 7

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Genes for Left Ventricular Noncompaction 7

Genes related to Left Ventricular Noncompaction 7 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MIB1	Mindbomb E3 Ubiquitin Protein Ligase 1	Protein Coding	918.23	Molecular basis known ⁵⁷ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)

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Variations for Left Ventricular Noncompaction 7

UniProtKB/Swiss-Prot genetic disease variations for Left Ventricular Noncompaction 7:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	MIB1	p.Val943Phe	VAR_069620	rs200035428

ClinVar genetic disease variations for Left Ventricular Noncompaction 7:

⁶

(show all 28)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MIB1	NM_020774.3(MIB1): c.2827G> T (p.Val943Phe)	single nucleotide variant	Likely pathogenic	rs200035428	GRCh37	Chromosome 18, 19438554: 19438554
2	MIB1	NM_020774.3(MIB1): c.2827G> T (p.Val943Phe)	single nucleotide variant	Likely pathogenic	rs200035428	GRCh38	Chromosome 18, 21858593: 21858593
3	MIB1	NM_020774.3(MIB1): c.636+7A> C	single nucleotide variant	Likely benign	rs765948951	GRCh37	Chromosome 18, 19353696: 19353696
4	MIB1	NM_020774.3(MIB1): c.636+7A> C	single nucleotide variant	Likely benign	rs765948951	GRCh38	Chromosome 18, 21773735: 21773735
5	MIB1	NM_020774.3(MIB1): c.2393+10A> G	single nucleotide variant	Benign	rs11877131	GRCh37	Chromosome 18, 19427096: 19427096
6	MIB1	NM_020774.3(MIB1): c.2393+10A> G	single nucleotide variant	Benign	rs11877131	GRCh38	Chromosome 18, 21847135: 21847135
7	MIB1	NM_020774.3(MIB1): c.1479+18A> G	single nucleotide variant	Benign	rs12605999	GRCh38	Chromosome 18, 21804032: 21804032
8	MIB1	NM_020774.3(MIB1): c.1479+18A> G	single nucleotide variant	Benign	rs12605999	GRCh37	Chromosome 18, 19383993: 19383993
9	MIB1	NM_020774.3(MIB1): c.1962+17A> G	single nucleotide variant	Benign	rs139079482	GRCh37	Chromosome 18, 19418475: 19418475
10	MIB1	NM_020774.3(MIB1): c.1962+17A> G	single nucleotide variant	Benign	rs139079482	GRCh38	Chromosome 18, 21838514: 21838514
11	MIB1	NM_020774.3(MIB1): c.843A> T (p.Thr281=)	single nucleotide variant	Likely benign	rs137957940	GRCh37	Chromosome 18, 19359581: 19359581
12	MIB1	NM_020774.3(MIB1): c.843A> T (p.Thr281=)	single nucleotide variant	Likely benign	rs137957940	GRCh38	Chromosome 18, 21779620: 21779620
13	MIB1	NM_020774.3(MIB1): c.2337C> T (p.Leu779=)	single nucleotide variant	Likely benign	rs146430244	GRCh37	Chromosome 18, 19427030: 19427030
14	MIB1	NM_020774.3(MIB1): c.2337C> T (p.Leu779=)	single nucleotide variant	Likely benign	rs146430244	GRCh38	Chromosome 18, 21847069: 21847069
15	MIB1	NM_020774.3(MIB1): c.138G> A (p.Glu46=)	single nucleotide variant	Likely benign	rs376396687	GRCh38	Chromosome 18, 21741721: 21741721
16	MIB1	NM_020774.3(MIB1): c.138G> A (p.Glu46=)	single nucleotide variant	Likely benign	rs376396687	GRCh37	Chromosome 18, 19321682: 19321682
17	MIB1	NM_020774.3(MIB1): c.1092+3A> G	single nucleotide variant	Likely benign	rs372212766	GRCh38	Chromosome 18, 21791560: 21791560
18	MIB1	NM_020774.3(MIB1): c.1092+3A> G	single nucleotide variant	Likely benign	rs372212766	GRCh37	Chromosome 18, 19371521: 19371521
19	MIB1	NM_020774.3(MIB1): c.1207G> T (p.Ala403Ser)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 18, 21798198: 21798198
20	MIB1	NM_020774.3(MIB1): c.1207G> T (p.Ala403Ser)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 18, 19378159: 19378159
21	MIB1	NM_020774.3(MIB1): c.1830-18T> C	single nucleotide variant	Benign	rs201761957	GRCh38	Chromosome 18, 21838347: 21838347
22	MIB1	NM_020774.3(MIB1): c.1830-18T> C	single nucleotide variant	Benign	rs201761957	GRCh37	Chromosome 18, 19418308: 19418308
23	MIB1	NM_020774.3(MIB1): c.1225A> G (p.Asn409Asp)	single nucleotide variant	Uncertain significance	rs775320402	GRCh38	Chromosome 18, 21798216: 21798216
24	MIB1	NM_020774.3(MIB1): c.1225A> G (p.Asn409Asp)	single nucleotide variant	Uncertain significance	rs775320402	GRCh37	Chromosome 18, 19378177: 19378177
25	MIB1	NM_020774.3(MIB1): c.1470C> T (p.Val490=)	single nucleotide variant	Likely benign	rs141701856	GRCh37	Chromosome 18, 19383966: 19383966
26	MIB1	NM_020774.3(MIB1): c.1470C> T (p.Val490=)	single nucleotide variant	Likely benign	rs141701856	GRCh38	Chromosome 18, 21804005: 21804005
27	MIB1	NM_020774.3(MIB1): c.1963-6G> A	single nucleotide variant	Benign	rs186680702	GRCh38	Chromosome 18, 21843125: 21843125
28	MIB1	NM_020774.3(MIB1): c.1963-6G> A	single nucleotide variant	Benign	rs186680702	GRCh37	Chromosome 18, 19423086: 19423086

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Expression for Left Ventricular Noncompaction 7

Search GEO for disease gene expression data for Left Ventricular Noncompaction 7.

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Pathways for Left Ventricular Noncompaction 7

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GO Terms for Left Ventricular Noncompaction 7

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Sources for Left Ventricular Noncompaction 7

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