Female infertility due to oocyte meiotic arrest

Summary

Female infertility due to oocyte meiotic arrest (MONDO:0044626) is a disease with 2 cohort genes.

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Cohort genes: 2
• Phenotypes (HPO): 6

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		16	Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

6 HPO clinical features (Orphanet curated; top 6 by frequency):

HPO ID	Term	Frequency
HP:0008222	Female infertility	Obligate (100%)
HP:0031515	Abnormal meiosis	Obligate (100%)
HP:0031516	Oocyte arrest at metaphase I	Frequent (30-79%)
HP:0020155	Abnormal oocyte morphology	Occasional (5-29%)
HP:0000147	Polycystic ovaries	Excluded (0%)
HP:0008669	Abnormal spermatogenesis	Excluded (0%)

Identifiers

Disease identifiers

Field	Value
Canonical name	female infertility due to oocyte meiotic arrest
Mondo ID	MONDO:0044626
Orphanet	488191
UMLS	C5567489
MedGen	1798912
GARD	0017887
Is cancer (heuristic)	no

Data availability: 2 GenCC gene-disease records · 1 cell line.

Disease family

Classification path: disease › human disease › disease by body system or component › reproductive system disorder › female reproductive system disorder › female infertility › female infertility due to oocyte meiotic arrest

Related subtypes (3): female infertility of uterine origin, female infertility due to zona pellucida defect, inherited primary ovarian failure

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

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 11 · 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
OOEP	Moderate	Autosomal recessive	female infertility due to oocyte meiotic arrest

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

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	2

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TRIP13	HGNC:12307	ENSG00000071539	Q15645	Pachytene checkpoint protein 2 homolog	gencc
OOEP	HGNC:21382	ENSG00000203907	A6NGQ2	Oocyte-expressed protein homolog	gencc

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.
OOEP	Oocyte-expressed protein homolog	Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 2 · 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	2	1.8×	0.312

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TRIP13	Other/Unknown	no		ClpA/B, AAA+_ATPase, ATPase_AAA_core
OOEP	Other/Unknown	no		MOEP19_KH-like, KH_dom_type_1_sf, KHDC1

Expression context

Cohort genes with no expression data: 0.

2 cohort genes 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)	2
unknown	0

Top tissues across cohort

Tissue	Cohort genes
bronchial epithelial cell	1
bronchus	1
epithelium of bronchus	1
oocyte	1
primordial germ cell in gonad	1
secondary oocyte	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
OOEP	127	broad	marker	oocyte, secondary oocyte, primordial germ cell in gonad

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TRIP13	4,676
OOEP	391

Structural data

PDB: 2 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TRIP13	Q15645	6
OOEP	A6NGQ2	4

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 2 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 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
establishment or maintenance of apical/basal cell polarity	1	2808.7×	0.003	OOEP
meiotic recombination checkpoint signaling	1	2808.7×	0.003	TRIP13
protein storage	1	1685.2×	0.003	OOEP
positive regulation of meiotic nuclear division	1	1404.3×	0.003	OOEP
establishment of spindle localization	1	1404.3×	0.003	OOEP
regulation of establishment of protein localization	1	1203.7×	0.003	OOEP
female meiosis I	1	936.2×	0.004	TRIP13
regulation of cell division	1	383.0×	0.006	OOEP
synaptonemal complex assembly	1	324.1×	0.006	TRIP13
oocyte maturation	1	300.9×	0.006	TRIP13
male meiosis I	1	290.6×	0.006	TRIP13
mitotic spindle assembly checkpoint signaling	1	280.9×	0.006	TRIP13
reciprocal meiotic recombination	1	280.9×	0.006	TRIP13
embryonic pattern specification	1	271.8×	0.006	OOEP
replication fork processing	1	210.7×	0.007	OOEP
oogenesis	1	191.5×	0.007	TRIP13
positive regulation of double-strand break repair via homologous recombination	1	191.5×	0.007	OOEP
positive regulation of double-strand break repair	1	172.0×	0.008	OOEP
regulation of protein localization	1	102.8×	0.012	OOEP
double-strand break repair	1	101.5×	0.012	TRIP13
spermatid development	1	72.6×	0.016	TRIP13
actin filament organization	1	59.3×	0.018	OOEP
transcription by RNA polymerase II	1	35.3×	0.029	TRIP13
spermatogenesis	1	17.6×	0.056	TRIP13

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 2

Druggability breadth: 1 of 2 evidence-associated genes (50%) 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
OOEP	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: 2; 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	2	TRIP13, OOEP

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
TRIP13	9	—
OOEP	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.