Oocyte maturation defect 9

Summary

Oocyte maturation defect 9 (MONDO:0033565) is a disease caused by TRIP13 (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: TRIP13 (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 10

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	oocyte maturation defect 9
Mondo ID	MONDO:0033565
OMIM	619011
UMLS	C5436599
MedGen	1724427
GARD	0018499
Is cancer (heuristic)	no

Also known as: OOMD9

Data availability: 10 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 9

Related subtypes (23): female infertility due to zona pellucida defect, oocyte maturation defect 5, oocyte maturation defect 2, oocyte maturation defect 3, oocyte maturation defect 4, oocyte maturation defect 11, oocyte maturation defect 12, oocyte maturation defect 10, oocyte maturation defect 6, oocyte maturation defect 7, oocyte maturation defect 8, oocyte maturation defect 13, oocyte maturation defect 14, oocyte/zygote/embryo maturation arrest 17, oocyte/zygote/embryo maturation arrest 18, oocyte/zygote/embryo maturation arrest 19, oocyte/zygote/embryo maturation arrest 20, oocyte/zygote/embryo maturation arrest 21, oocyte/zygote/embryo maturation arrest 22, oocyte/zygote/embryo maturation arrest 23, oocyte/zygote/embryo maturation arrest 24, oocyte/zygote/embryo maturation arrest 25, oocyte/zygote/embryo maturation arrest 16

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

10 retrieved; paginated sample, class counts are floors:

4 uncertain significance, 3 pathogenic, 2 benign, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
977642	NM_004237.4(TRIP13):c.518G>A (p.Arg173Gln)	TRIP13	Pathogenic	criteria provided, single submitter
977644	NM_004237.4(TRIP13):c.592A>G (p.Ile198Val)	TRIP13	Pathogenic	no assertion criteria provided
977645	NM_004237.4(TRIP13):c.739G>A (p.Val247Met)	TRIP13	Pathogenic	no assertion criteria provided
977641	NM_004237.4(TRIP13):c.77A>G (p.His26Arg)	TRIP13	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
3592818	NM_004237.4(TRIP13):c.140A>G (p.Asn47Ser)	TRIP13	Uncertain significance	criteria provided, single submitter
3592838	NM_004237.4(TRIP13):c.955A>G (p.Ile319Val)	TRIP13	Uncertain significance	criteria provided, single submitter
4796589	NM_004237.4(TRIP13):c.1070A>G (p.Glu357Gly)	TRIP13	Uncertain significance	criteria provided, single submitter
977643	NM_004237.4(TRIP13):c.907G>A (p.Glu303Lys)	TRIP13	Uncertain significance	criteria provided, single submitter
1225568	NM_004237.4(TRIP13):c.258+48del	TRIP13	Benign	criteria provided, multiple submitters, no conflicts
1241500	NM_004237.4(TRIP13):c.608+39T>G	TRIP13	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 10 · Orphanet: 2 · 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
TRIP13	Strong	Autosomal recessive	oocyte maturation defect 9	10

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TRIP13	Orphanet:1052	Mosaic variegated aneuploidy syndrome
TRIP13	Orphanet:654	Nephroblastoma

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
TRIP13	HGNC:12307	ENSG00000071539	Q15645	Pachytene checkpoint protein 2 homolog	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TRIP13	Pachytene checkpoint protein 2 homolog	Plays a key role in chromosome recombination and chromosome structure development during meiosis.

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)
TRIP13	Other/Unknown	no		ClpA/B, AAA+_ATPase, ATPase_AAA_core

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
bronchial epithelial cell	1
bronchus	1
epithelium of bronchus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TRIP13	212	ubiquitous	marker	bronchial epithelial cell, epithelium of bronchus, bronchus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TRIP13	4,676

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TRIP13	Q15645	6

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
meiotic recombination checkpoint signaling	1	5617.3×	0.002	TRIP13
female meiosis I	1	1872.4×	0.003	TRIP13
synaptonemal complex assembly	1	648.1×	0.003	TRIP13
oocyte maturation	1	601.9×	0.003	TRIP13
male meiosis I	1	581.1×	0.003	TRIP13
mitotic spindle assembly checkpoint signaling	1	561.7×	0.003	TRIP13
reciprocal meiotic recombination	1	561.7×	0.003	TRIP13
oogenesis	1	383.0×	0.004	TRIP13
double-strand break repair	1	203.0×	0.007	TRIP13
spermatid development	1	145.3×	0.008	TRIP13
transcription by RNA polymerase II	1	70.5×	0.015	TRIP13
spermatogenesis	1	35.2×	0.028	TRIP13

Therapeutics

Drug target analysis

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

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TRIP13	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
TRIP13	9	Binding:9

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	TRIP13

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)
TRIP13	9	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.