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Atlas / Disease / Complete hydatidiform mole

Complete hydatidiform mole

disease
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Also known as classical hydatidiform Molecomplete hydatid Molecomplete molar pregnancycomplete Mole

Summary

Complete hydatidiform mole (MONDO:0016785) is a disease with 3 cohort genes and 1 clinical trial.

At a glance

  • Prevalence: Unknown (Worldwide)
  • Cohort genes: 3
  • Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical namecomplete hydatidiform mole
Mondo IDMONDO:0016785
Orphanet254688
ICD-111338299833
NCITC4871
SNOMED CT237249000
UMLSC0678213
MedGen195706
GARD0017224
Is cancer (heuristic)no

Also known as: classical hydatidiform Mole · complete hydatid Mole · complete molar pregnancy · complete Mole

Data availability: 3 GenCC gene-disease records.

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › cancer or benign tumor › neoplastic disease or syndrome › neoplasm › trophoblastic neoplasm › hydatidiform mole › complete hydatidiform mole

Related subtypes (4): partial hydatidiform mole, invasive hydatidiform mole, hydatidiform mole, recurrent, 3, hydatidiform mole, recurrent, 4

Subtypes (2): hydatidiform mole, recurrent, 1, hydatidiform mole, recurrent, 2

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: 8 · Orphanet: 5 · 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.

GeneClassificationInheritanceDiseaseRecords
KHDC3LStrongAutosomal recessivehydatidiform mole, recurrent, 23
MEI1StrongAutosomal recessivehydatidiform mole, recurrent, 32
NLRP7StrongAutosomal recessivehydatidiform mole, recurrent, 13

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
NLRP7Orphanet:254688Complete hydatidiform mole
NLRP7Orphanet:254693Partial hydatidiform mole
MEI1Orphanet:254688Complete hydatidiform mole
KHDC3LOrphanet:254688Complete hydatidiform mole
KHDC3LOrphanet:254693Partial hydatidiform mole

Cohort genes → proteins

3 cohort genes, 3 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence3

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
NLRP7HGNC:22947ENSG00000167634Q8WX94NACHT, LRR and PYD domains-containing protein 7gencc
MEI1HGNC:28613ENSG00000167077Q5TIA1Meiosis inhibitor protein 1gencc
KHDC3LHGNC:33699ENSG00000203908Q587J8KH domain-containing protein 3gencc

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
NLRP7NACHT, LRR and PYD domains-containing protein 7Inhibits CASP1/caspase-1-dependent IL1B secretion.
MEI1Meiosis inhibitor protein 1Required for normal meiotic chromosome synapsis.
KHDC3LKH domain-containing protein 3Component 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: 3 · 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.

FamilyGenesFoldFDR
Other/Unknown31.8×0.174

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
NLRP7Other/UnknownnoLeu-rich_rpt, DAPIN, NACHT_NTPase
MEI1Other/UnknownnoARM-like, ARM-type_fold, Immune_Signaling-Apoptosis_Reg
KHDC3LOther/UnknownnoMOEP19_KH-like, KH_dom_type_1_sf, KHDC1

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)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)3
unknown0

Top tissues across cohort

TissueCohort genes
granulocyte2
primordial germ cell in gonad2
male germ line stem cell (sensu Vertebrata) in testis1
bone marrow cell1
right testis1
oocyte1
secondary oocyte1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
NLRP749tissue_specificyesprimordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, granulocyte
MEI1178broadmarkerbone marrow cell, right testis, granulocyte
KHDC3L57tissue_specificyesoocyte, secondary oocyte, primordial germ cell in gonad

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

SymbolInteractor count
NLRP71,294
KHDC3L1,195
MEI1759

Intra-cohort edges

ABSources
KHDC3LNLRP7intact, string_interaction

Structural data

PDB: 1 · AlphaFold-only: 2 · No structure: 0

Cohort genes with PDB structures (top 30)

SymbolUniProtPDB entries
NLRP7Q8WX943

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
MEI1Q5TIA184.09
KHDC3LQ587J867.69

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 3 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 3 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
establishment of organelle localization11872.4×0.007KHDC3L
protein storage11123.5×0.007KHDC3L
meiosis I1802.5×0.007MEI1
negative regulation of protein processing1374.5×0.009NLRP7
positive regulation of embryonic development1374.5×0.009KHDC3L
positive regulation of dendrite development1330.4×0.009KHDC3L
positive regulation of neurogenesis1193.7×0.013KHDC3L
negative regulation of interleukin-1 beta production1170.2×0.013NLRP7
replication fork processing1140.4×0.013KHDC3L
negative regulation of cytokine production involved in inflammatory response1140.4×0.013NLRP7
positive regulation of double-strand break repair via homologous recombination1127.7×0.013KHDC3L
positive regulation of double-strand break repair1114.6×0.013KHDC3L
cellular response to interleukin-1193.6×0.015NLRP7
regulation of protein localization168.5×0.019KHDC3L
regulation of inflammatory response156.2×0.021NLRP7
actin filament organization139.6×0.028KHDC3L
cellular response to lipopolysaccharide132.7×0.032NLRP7
negative regulation of apoptotic process111.6×0.084KHDC3L

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 3 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

SymbolMoleculesMax phase
NLRP700
MEI100
KHDC3L00

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 3; 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):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)0
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug3NLRP7, MEI1, KHDC3L

Undrugged target profiles

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

SymbolChEMBL assaysDrugged partners (top 3)
NLRP70—
MEI10—
KHDC3L0—

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

PhaseTrials
PHASE21

Top trials by phase / activity

NCTPhaseStatusTitle
NCT00521118PHASE2COMPLETEDSecond Curettage in Treating Patients With Persistent Non-metastatic Gestational Trophoblastic Tumors

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 67

This page pulls from 67 datasets indexed by BioBTree:

alphafoldantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticscellosauruschembl_activitychembl_moleculechembl_targetcivic_evidenceclingen_dosageclinical_trialsclinvarctd_gene_interactiondepmapdiamond_similarityefoensemblentrezesm2_similarityfantom5_genefantom5_promotergardgenccgenerifgogtopdbgtopdb_interactiongwasgwas_studyhgncicd11intactinterpromedgenmeshmimmondomondochildmondoparentncitorphanetpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assayreactomerefseqrhearnacentralsctidscxa_expressionscxa_gene_experimentsignorstring_interactiontranscriptufeatureumlsuniprot