Hydatidiform mole, recurrent, 3
diseaseOn this page
Also known as HYDM3
Summary
Hydatidiform mole, recurrent, 3 (MONDO:0032746) is a disease caused by MEI1 (GenCC Strong), with 1 cohort gene.
At a glance
- Causal gene: MEI1 (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 | hydatidiform mole, recurrent, 3 |
| Mondo ID | MONDO:0032746 |
| OMIM | 618431 |
| UMLS | C5193093 |
| MedGen | 1677775 |
| GARD | 0018367 |
| Is cancer (heuristic) | no |
Also known as: HYDM3
Data availability: 11 ClinVar variants · 1 GenCC gene-disease record.
Disease family
Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › trophoblastic neoplasm › hydatidiform mole › hydatidiform mole, recurrent, 3
Related subtypes (4): complete hydatidiform mole, partial hydatidiform mole, invasive hydatidiform mole, hydatidiform mole, recurrent, 4
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:
5 likely pathogenic, 3 uncertain significance, 2 pathogenic, 1 likely benign
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 627577 | NM_152513.4(MEI1):c.1196+1G>A | MEI1 | Pathogenic | no assertion criteria provided |
| 627578 | NM_152513.4(MEI1):c.2206del (p.Val736fs) | MEI1 | Pathogenic | criteria provided, single submitter |
| 2137679 | NM_152513.4(MEI1):c.3170-1G>C | MEI1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 2442306 | NM_152513.4(MEI1):c.3772G>T (p.Asp1258Tyr) | MEI1 | Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 4686563 | NM_152513.4(MEI1):c.2339del (p.Pro780fs) | MEI1 | Likely pathogenic | criteria provided, single submitter |
| 4849214 | NM_152513.4(MEI1):c.445C>T (p.Arg149Ter) | MEI1 | Likely pathogenic | criteria provided, single submitter |
| 627576 | NM_152513.4(MEI1):c.3452G>A (p.Trp1151Ter) | MEI1 | Likely pathogenic | criteria provided, single submitter |
| 3065761 | NM_152513.4(MEI1):c.567C>A (p.Tyr189Ter) | MEI1 | Uncertain significance | criteria provided, single submitter |
| 3383129 | NM_152513.4(MEI1):c.2647C>T (p.Arg883Ter) | MEI1 | Uncertain significance | criteria provided, single submitter |
| 3383130 | NM_152513.4(MEI1):c.186G>C (p.Lys62Asn) | MEI1 | Uncertain significance | criteria provided, single submitter |
| 2442305 | NM_152513.4(MEI1):c.868CTC[1] (p.Leu291del) | MEI1 | Likely benign | criteria provided, single submitter |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 2 · 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 |
|---|---|---|---|---|
| MEI1 | Strong | Autosomal recessive | hydatidiform mole, recurrent, 3 | 2 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| MEI1 | Orphanet:254688 | Complete hydatidiform mole |
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 |
|---|---|---|---|---|---|
| MEI1 | HGNC:28613 | ENSG00000167077 | Q5TIA1 | Meiosis inhibitor protein 1 | gencc,clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| MEI1 | Meiosis inhibitor protein 1 | Required for normal meiotic chromosome synapsis. |
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) |
|---|---|---|---|---|
| MEI1 | Other/Unknown | no | ARM-like, ARM-type_fold, Immune_Signaling-Apoptosis_Reg |
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 |
|---|---|
| bone marrow cell | 1 |
| granulocyte | 1 |
| right testis | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| MEI1 | 178 | broad | marker | bone marrow cell, right testis, granulocyte |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| MEI1 | 759 |
Structural data
PDB: 0 · AlphaFold-only: 1 · No structure: 0
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| MEI1 | Q5TIA1 | 84.09 |
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 |
|---|---|---|---|---|
| meiosis I | 1 | 2407.4× | 4e-04 | MEI1 |
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 |
|---|---|---|
| MEI1 | 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 | MEI1 |
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) |
|---|---|---|
| MEI1 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: MEI1