Left ventricular noncompaction 7

Summary

Left ventricular noncompaction 7 (MONDO:0014042) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 44

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	left ventricular noncompaction 7
Mondo ID	MONDO:0014042
OMIM	615092
NCIT	C157266
UMLS	C3554496
MedGen	767410
GARD	0015906
Is cancer (heuristic)	no

Also known as: left ventricular noncompaction 7 · left ventricular noncompaction caused by mutation in MIB1 · left ventricular noncompaction type 7 · LVNC7 · MIB1 left ventricular noncompaction

Data availability: 44 ClinVar variants · 2 GenCC gene-disease records · 2 cell lines.

Disease family

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › muscle tissue disorder › cardiomyopathy › intrinsic cardiomyopathy › left ventricular noncompaction › left ventricular noncompaction 7

Related subtypes (12): dilated cardiomyopathy 1C, dilated cardiomyopathy 1D, left ventricular noncompaction 1, left ventricular noncompaction 2, dilated cardiomyopathy 1Y, dilated cardiomyopathy 1R, dilated cardiomyopathy 1S, left ventricular noncompaction 8, left ventricular noncompaction 10, left ventricular noncompaction 9, left ventricular noncompaction 4, left ventricular noncompaction 5

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

44 retrieved; paginated sample, class counts are floors:

17 uncertain significance, 11 likely pathogenic, 6 likely benign, 4 benign, 4 conflicting classifications of pathogenicity, 2 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
3064992	NM_020774.4(MIB1):c.178del (p.Tyr60fs)	LOC130062255	Likely pathogenic	criteria provided, single submitter
1028190	NM_020774.4(MIB1):c.2878C>T (p.Gln960Ter)	MIB1	Likely pathogenic	criteria provided, single submitter
1334019	NM_020774.4(MIB1):c.2039del (p.Gln680fs)	MIB1	Likely pathogenic	criteria provided, single submitter
3027436	NM_020774.4(MIB1):c.2250_2259del (p.Lys750fs)	MIB1	Likely pathogenic	criteria provided, single submitter
3067834	NM_020774.4(MIB1):c.531+1G>A	MIB1	Likely pathogenic	criteria provided, single submitter
3338302	NM_020774.4(MIB1):c.2665+1G>A	MIB1	Likely pathogenic	criteria provided, single submitter
3366937	NM_020774.4(MIB1):c.2779+2dup	MIB1	Likely pathogenic	criteria provided, single submitter
3776133	NM_020774.4(MIB1):c.1305_1306insAA (p.Val436fs)	MIB1	Likely pathogenic	criteria provided, single submitter
4056619	NM_020774.4(MIB1):c.1471G>T (p.Glu491Ter)	MIB1	Likely pathogenic	criteria provided, single submitter
4074747	NM_020774.4(MIB1):c.2212-2A>T	MIB1	Likely pathogenic	criteria provided, single submitter
4686729	NM_020774.4(MIB1):c.2803C>T (p.Gln935Ter)	MIB1	Likely pathogenic	criteria provided, single submitter
40091	NM_020774.4(MIB1):c.2827G>T (p.Val943Phe)	MIB1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
40092	NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)	MIB1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
450188	NM_020774.4(MIB1):c.2749A>T (p.Lys917Ter)	MIB1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
450378	NM_020774.4(MIB1):c.3007A>G (p.Ile1003Val)	MIB1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
3362346	NM_020774.4(MIB1):c.13C>T (p.Arg5Trp)	LOC130062254	Uncertain significance	criteria provided, single submitter
1032855	NM_020774.4(MIB1):c.2779+1G>C	MIB1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1699081	NM_020774.4(MIB1):c.442G>A (p.Ala148Thr)	MIB1	Uncertain significance	criteria provided, single submitter
2433746	NM_020774.4(MIB1):c.2285A>G (p.Asn762Ser)	MIB1	Uncertain significance	criteria provided, single submitter
2442189	NM_020774.4(MIB1):c.2810A>G (p.Asp937Gly)	MIB1	Uncertain significance	criteria provided, multiple submitters, no conflicts
2689427	NM_020774.4(MIB1):c.335G>T (p.Cys112Phe)	MIB1	Uncertain significance	criteria provided, single submitter
2692328	NM_020774.4(MIB1):c.908+5G>A	MIB1	Uncertain significance	criteria provided, single submitter
3779850	NM_020774.4(MIB1):c.2394-2A>G	MIB1	Uncertain significance	criteria provided, single submitter
4277601	NM_020774.4(MIB1):c.2896T>C (p.Cys966Arg)	MIB1	Uncertain significance	criteria provided, single submitter
4277798	NM_020774.4(MIB1):c.2569G>T (p.Val857Phe)	MIB1	Uncertain significance	criteria provided, single submitter
4278087	NM_020774.4(MIB1):c.2974T>C (p.Cys992Arg)	MIB1	Uncertain significance	criteria provided, single submitter
451819	NM_020774.4(MIB1):c.2746G>A (p.Gly916Arg)	MIB1	Uncertain significance	criteria provided, multiple submitters, no conflicts
4688150	NM_020774.4(MIB1):c.2468C>G (p.Ser823Ter)	MIB1	Uncertain significance	criteria provided, single submitter
4849213	NM_020774.4(MIB1):c.1607T>C (p.Ile536Thr)	MIB1	Uncertain significance	criteria provided, single submitter
489065	NM_020774.4(MIB1):c.2635C>T (p.Gln879Ter)	MIB1	Uncertain significance	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
MIB1	Moderate	Autosomal dominant	left ventricular noncompaction 7	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
MIB1	Orphanet:54260	Left ventricular noncompaction

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
MIB1	HGNC:21086	ENSG00000101752	Q86YT6	E3 ubiquitin-protein ligase MIB1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
MIB1	E3 ubiquitin-protein ligase MIB1	E3 ubiquitin-protein ligase that mediates ubiquitination of Delta receptors, which act as ligands of Notch proteins.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
MIB1	Transcription factor	no		Znf_ZZ, Znf_RING, Ankyrin_rpt

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
corpus epididymis	1
kidney epithelium	1
tibia	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
MIB1	262	ubiquitous	marker	corpus epididymis, kidney epithelium, tibia

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
MIB1	2,280

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
MIB1	Q86YT6	6

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 17. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Signaling by NOTCH1 HD Domain Mutants in Cancer	1	1268.9×	0.004	MIB1
Constitutive Signaling by NOTCH1 HD Domain Mutants	1	761.3×	0.004	MIB1
Signaling by NOTCH2	1	713.8×	0.004	MIB1
Signaling by NOTCH3	1	519.1×	0.004	MIB1
NOTCH3 Activation and Transmission of Signal to the Nucleus	1	475.8×	0.004	MIB1
NOTCH2 Activation and Transmission of Signal to the Nucleus	1	439.2×	0.004	MIB1
Signaling by NOTCH1 PEST Domain Mutants in Cancer	1	407.9×	0.004	MIB1
Signaling by NOTCH1 in Cancer	1	407.9×	0.004	MIB1
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	1	407.9×	0.004	MIB1
Signaling by NOTCH1	1	356.9×	0.004	MIB1
Activated NOTCH1 Transmits Signal to the Nucleus	1	356.9×	0.004	MIB1
Constitutive Signaling by NOTCH1 PEST Domain Mutants	1	196.9×	0.007	MIB1
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	1	196.9×	0.007	MIB1
Signaling by NOTCH	1	175.7×	0.007	MIB1
Diseases of signal transduction by growth factor receptors and second messengers	1	56.8×	0.020	MIB1
Disease	1	13.1×	0.081	MIB1
Signal Transduction	1	10.2×	0.098	MIB1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
neural tube formation	1	2106.5×	0.006	MIB1
positive regulation of endocytosis	1	802.5×	0.006	MIB1
central nervous system neuron differentiation	1	601.9×	0.006	MIB1
blood vessel development	1	374.5×	0.006	MIB1
somitogenesis	1	374.5×	0.006	MIB1
negative regulation of neuron differentiation	1	271.8×	0.006	MIB1
heart looping	1	267.5×	0.006	MIB1
Notch signaling pathway	1	141.6×	0.011	MIB1
endocytosis	1	95.2×	0.014	MIB1
ubiquitin-dependent protein catabolic process	1	74.2×	0.015	MIB1
in utero embryonic development	1	72.0×	0.015	MIB1
protein ubiquitination	1	41.4×	0.024	MIB1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
MIB1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	MIB1

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
MIB1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.