Oocyte maturation defect 8

disease

On this page

Also known as OOMD8

Summary

Oocyte maturation defect 8 (MONDO:0033564) is a disease caused by BTG4 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: BTG4 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	oocyte maturation defect 8
Mondo ID	MONDO:0033564
OMIM	619009
UMLS	C5436597
MedGen	1776094
GARD	0018498
Is cancer (heuristic)	no

Also known as: OOMD8

Data availability: 5 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inherited oocyte maturation defect › oocyte maturation defect 8

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

5 retrieved; paginated sample, class counts are floors:

3 pathogenic, 2 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1802187	NM_001367975.1(BTG4):c.285G>C (p.Trp95Cys)	BTG4	Pathogenic	no assertion criteria provided
977516	NM_001367975.1(BTG4):c.1A>G (p.Met1Val)	BTG4	Pathogenic	no assertion criteria provided
977517	NM_001367975.1(BTG4):c.475_478del (p.Ile159fs)	BTG4	Pathogenic	no assertion criteria provided
977514	NM_001367975.1(BTG4):c.166G>A (p.Ala56Thr)	BTG4	Likely pathogenic	criteria provided, single submitter
977515	NM_001367975.1(BTG4):c.73C>T (p.Gln25Ter)	BTG4	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · Orphanet: 0 · 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
BTG4	Strong	Autosomal recessive	oocyte maturation defect 8	4

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
BTG4	HGNC:13862	ENSG00000137707	Q9NY30	Protein BTG4	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
BTG4	Protein BTG4	Adapter protein that bridges CNOT7, a catalytic subunit of the CCR4-NOT complex, to EIF4E.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · 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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
BTG4	Other/Unknown	no		Anti_prolifrtn, BTG, BTG-like_sf

Expression context

Cohort genes with no expression data: 0.

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
oocyte	1
secondary oocyte	1
sperm	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
BTG4	54	tissue_specific	yes	oocyte, secondary oocyte, sperm

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
BTG4	608

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
BTG4	Q9NY30	79.62

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. 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
Maternal to zygotic transition (MZT)	1	713.8×	0.004	BTG4
M-decay: degradation of maternal mRNAs by maternally stored factors	1	326.3×	0.005	BTG4
Developmental Biology	1	14.5×	0.069	BTG4

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
neuron differentiation	1	100.3×	0.020	BTG4
regulation of cell cycle	1	74.6×	0.020	BTG4
negative regulation of cell population proliferation	1	42.1×	0.024	BTG4

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
BTG4	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	BTG4

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)
BTG4	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: BTG4