Oocyte maturation defect 14

Summary

Oocyte maturation defect 14 (MONDO:0859521) is a disease caused by CDC20 (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: CDC20 (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 11

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	oocyte maturation defect 14
Mondo ID	MONDO:0859521
OMIM	620276
UMLS	C5830326
MedGen	1840962
Is cancer (heuristic)	no

Data availability: 11 ClinVar variants · 1 GenCC gene-disease record.

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 14

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 9, oocyte maturation defect 13, 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

11 retrieved; paginated sample, class counts are floors:

10 pathogenic, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
2443916	NM_001255.3(CDC20):c.683A>G (p.Tyr228Cys)	CDC20	Pathogenic	no assertion criteria provided
2443917	NM_001255.3(CDC20):c.965G>A (p.Arg322Gln)	CDC20	Pathogenic	no assertion criteria provided
2443918	NM_001255.3(CDC20):c.544C>T (p.Arg182Ter)	CDC20	Pathogenic	no assertion criteria provided
2443919	NM_001255.3(CDC20):c.810_813dup (p.Gly272fs)	CDC20	Pathogenic	no assertion criteria provided
2443920	NM_001255.3(CDC20):c.1176_1179del (p.Ala391_Cys392insTer)	CDC20	Pathogenic	no assertion criteria provided
2443921	NM_001255.3(CDC20):c.631G>A (p.Ala211Thr)	CDC20	Pathogenic	no assertion criteria provided
2443922	NM_001255.3(CDC20):c.784C>T (p.Arg262Ter)	CDC20	Pathogenic	no assertion criteria provided
2443923	NM_001255.3(CDC20):c.964C>T (p.Arg322Ter)	CDC20	Pathogenic	no assertion criteria provided
2443924	NM_001255.3(CDC20):c.330+1G>A	CDC20	Pathogenic	no assertion criteria provided
2443925	NM_001255.3(CDC20):c.1155G>C (p.Trp385Cys)	CDC20	Pathogenic	no assertion criteria provided
3064850	NM_001255.3(CDC20):c.556+1G>T	CDC20	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 1 · 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
CDC20	Strong	Autosomal recessive	oocyte maturation defect 14

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
CDC20	HGNC:1723	ENSG00000117399	Q12834	Cell division cycle protein 20 homolog	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CDC20	Cell division cycle protein 20 homolog	Substrate-specific adapter of the anaphase promoting complex/cyclosome (APC/C) complex that confers substrate specificity by binding to substrates and targeting them to the APC/C complex for ubiquitination and degradation.

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
Scaffold/PPI	1	17.3×	0.058

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
CDC20	Scaffold/PPI	no		WD40_rpt, WD40/YVTN_repeat-like_dom_sf, Cdc20/Fizzy

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
oocyte	1
secondary oocyte	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CDC20	214	ubiquitous	marker	oocyte, ventricular zone, secondary oocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CDC20	6,355

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
CDC20	Q12834	17

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 42. 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
Phosphorylation of Emi1	1	1427.5×	0.011	CDC20
Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components	1	634.4×	0.011	CDC20
Inactivation of APC/C via direct inhibition of the APC/C complex	1	519.1×	0.011	CDC20
Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase	1	519.1×	0.011	CDC20
APC/C:Cdc20 mediated degradation of Cyclin B	1	456.8×	0.011	CDC20
APC-Cdc20 mediated degradation of Nek2A	1	423.0×	0.011	CDC20
APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint	1	423.0×	0.011	CDC20
Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins	1	407.9×	0.011	CDC20
APC/C:Cdc20 mediated degradation of mitotic proteins	1	356.9×	0.011	CDC20
APC/C-mediated degradation of cell cycle proteins	1	335.9×	0.011	CDC20
Regulation of mitotic cell cycle	1	335.9×	0.011	CDC20
Regulation of APC/C activators between G1/S and early anaphase	1	308.6×	0.011	CDC20
SCF-beta-TrCP mediated degradation of Emi1	1	237.9×	0.014	CDC20
Amplification of signal from the kinetochores	1	196.9×	0.014	CDC20
APC/C:Cdc20 mediated degradation of Securin	1	190.3×	0.014	CDC20
Cdc20:Phospho-APC/C mediated degradation of Cyclin A	1	173.0×	0.014	CDC20
APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1	1	170.4×	0.014	CDC20
Mitotic Spindle Checkpoint	1	158.6×	0.015	CDC20
Deubiquitination	1	124.1×	0.018	CDC20
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	1	116.5×	0.018	CDC20
Mitotic Metaphase and Anaphase	1	96.8×	0.019	CDC20
Mitotic Anaphase	1	96.8×	0.019	CDC20
EML4 and NUDC in mitotic spindle formation	1	92.8×	0.019	CDC20
Cell Cycle Checkpoints	1	88.5×	0.019	CDC20
Resolution of Sister Chromatid Cohesion	1	86.5×	0.019	CDC20
RHO GTPases Activate Formins	1	77.7×	0.021	CDC20
Class I MHC mediated antigen processing & presentation	1	70.1×	0.021	CDC20
Mitotic Prometaphase	1	69.2×	0.021	CDC20
RHO GTPase Effectors	1	68.0×	0.021	CDC20
M Phase	1	66.0×	0.021	CDC20

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
metaphase/anaphase transition of cell cycle	1	16852.0×	6e-04	CDC20
metaphase/anaphase transition of meiosis I	1	16852.0×	6e-04	CDC20
positive regulation of anaphase-promoting complex-dependent catabolic process	1	3370.4×	0.002	CDC20
positive regulation of ubiquitin protein ligase activity	1	2808.7×	0.002	CDC20
regulation of meiotic nuclear division	1	2407.4×	0.002	CDC20
positive regulation of synapse maturation	1	1872.4×	0.002	CDC20
positive regulation of synaptic plasticity	1	1532.0×	0.002	CDC20
positive regulation of mitotic metaphase/anaphase transition	1	1203.7×	0.002	CDC20
mitotic sister chromatid cohesion	1	1123.5×	0.002	CDC20
regulation of dendrite development	1	991.3×	0.002	CDC20
regulation of meiotic cell cycle	1	766.0×	0.002	CDC20
anaphase-promoting complex-dependent catabolic process	1	702.2×	0.002	CDC20
mitotic spindle assembly checkpoint signaling	1	561.7×	0.003	CDC20
mitotic spindle assembly	1	343.9×	0.004	CDC20
regulation of mitotic cell cycle	1	240.7×	0.006	CDC20
cell division	1	46.2×	0.026	CDC20
nervous system development	1	45.9×	0.026	CDC20
protein ubiquitination	1	41.4×	0.027	CDC20
positive regulation of cell population proliferation	1	33.6×	0.031	CDC20
cell differentiation	1	29.1×	0.034	CDC20

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
CDC20	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
CDC20	12	Binding:12

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	CDC20

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)
CDC20	12	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.