KHDC3L

Summary

KHDC3L (KH domain containing 3 like, subcortical maternal complex member, HGNC:33699) is a protein-coding gene on chromosome 6q13, encoding KH domain-containing protein 3 (Q587J8). Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development.

The protein encoded by this gene belongs to the KHDC1 family, members of which contain an atypical KH domain that may not bind RNA like canonical KH domains. This gene is specifically expressed in the oocytes, and recent studies suggest that it may function as a regulator of genomic imprinting in the oocyte. Mutations in this gene are associated with recurrent biparental complete hydatidiform mole.

Source: NCBI Gene 154288 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hydatidiform mole, recurrent, 2 (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 47 total — 3 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 2
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_001017361

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33699
Approved symbol	KHDC3L
Name	KH domain containing 3 like, subcortical maternal complex member
Location	6q13
Locus type	gene with protein product
Status	Approved
Aliases	ECAT1
Ensembl gene	ENSG00000203908
Ensembl biotype	protein_coding
OMIM	611687
Entrez	154288

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000370367

RefSeq mRNA: 1 — MANE Select: NM_001017361 NM_001017361

CCDS: CCDS34484

Canonical transcript exons

ENST00000370367 — 3 exons

Exon	Start	End
ENSE00001452483	73363556	73364171
ENSE00001452484	73363095	73363274
ENSE00001452485	73362658	73362898

Expression profiles

Bgee: expression breadth broad, 57 present calls, max score 99.18.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1165 / max 182.8043, expressed in 8 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
68571	0.1165	8

Top tissues by expression

229 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	99.18	gold quality
secondary oocyte	CL:0000655	99.08	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.51	gold quality
buccal mucosa cell	CL:0002336	65.37	gold quality
endothelial cell	CL:0000115	56.94	gold quality
cerebellar hemisphere	UBERON:0002245	56.60	gold quality
cerebellar cortex	UBERON:0002129	56.50	gold quality
cerebellum	UBERON:0002037	55.14	gold quality
right hemisphere of cerebellum	UBERON:0014890	54.38	gold quality
tendon of biceps brachii	UBERON:0008188	54.15	gold quality
nucleus accumbens	UBERON:0001882	49.76	gold quality
cortical plate	UBERON:0005343	48.66	silver quality
medial globus pallidus	UBERON:0002477	48.41	gold quality
putamen	UBERON:0001874	47.76	gold quality
Ammon’s horn	UBERON:0001954	46.96	gold quality
globus pallidus	UBERON:0001875	46.53	gold quality
prefrontal cortex	UBERON:0000451	46.22	gold quality
amygdala	UBERON:0001876	46.12	gold quality
caudate nucleus	UBERON:0001873	45.87	gold quality
anterior cingulate cortex	UBERON:0009835	44.62	gold quality
Brodmann (1909) area 9	UBERON:0013540	44.12	silver quality
dorsolateral prefrontal cortex	UBERON:0009834	44.09	gold quality
upper leg skin	UBERON:0004262	44.01	silver quality
brain	UBERON:0000955	44.00	gold quality
cerebral cortex	UBERON:0000956	43.99	gold quality
amniotic fluid	UBERON:0000173	43.91	gold quality
neocortex	UBERON:0001950	43.81	gold quality
right frontal lobe	UBERON:0002810	43.81	gold quality
frontal cortex	UBERON:0001870	43.75	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-3929	no	877.35
E-ANND-3	no	0.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting KHDC3L, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-149-5P	99.25	67.16	1315
HSA-MIR-421	98.90	67.04	1883
HSA-MIR-4709-5P	98.51	67.25	1335
HSA-MIR-378B	98.43	65.36	573
HSA-MIR-5681A	97.99	67.17	1658
HSA-MIR-4486	96.96	60.61	931
HSA-MIR-3690	96.44	65.18	737
HSA-MIR-5687	96.10	64.83	226

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 18)

• This paper states that ECAT1 is not found in rodents. (PMID:17913455)
• Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte. (PMID:21885028)
• Observations suggest that although NLRP7 and C6orf221 mutations are related to diploid biparental FRHMs, neither of these genes, nor NLRP2, are related to diploid HMs with biparental contributions to the molar genome. (PMID:22909446)
• Both NLRP7 and KHDC3L are involved in setting or maintaining the appropriate imprint within the ovum in women with familial recurrent hydatidiform mole. (PMID:23125094)
• Similarities between two recurrent hydatidiform moles (RHM) causative genes, KHDC3L and NLRP7, in their subcellular localization, parental contribution to the HM tissues caused by them, and the presence of several founder mutations. (PMID:23232697)
• these findings suggest that neither mutations nor variants in NLRP7 and C6orf221 are major factors contributing to the risk of these types of pregnancy complications. (PMID:23515668)
• Investigation of the association between molar pregnancy and recurrent miscarriages regarding changes in the NLRP7 and C6orf221/KHDC3L genes. (PMID:23963444)
• The absence of mutations in women with Androgenetic complete hydatidiform moles supports a role for NLRP7 or KHDC3L in Biparental hydatidiform moles only. (PMID:24105752)
• Data indicate there was no KHDC3L mutation found in recurrent and sporadic hydatidiform moles Chinese patients. (PMID:24215781)
• NLRP7 and KHDC3L localize to the cytoskeleton and are predominant at the cortical region in growing oocytes. (PMID:25358348)
• No disease-causing mutations were identified in NLRP2, NLRP7 and KHDC3L in cohorts of unexplained infertility and recurrent pregnancy loss. (PMID:25376457)
• study indicates that ECAT1 may play a role in meiotic progression by maintaining the accuracy of spindle assembly in human oocytes, thus promoting oocyte maturation and subsequent development of the embryo. (PMID:27917907)
• all products of conception from patients with at least two hydatidiform moles and recessive mutations in NLRP7 or KHDC3L are diploid biparental, while those from patients without mutations are highly heterogeneous and only a minority of them are diploid biparental (PMID:29463882)
• This study was designed to identify mutations of gene NLRP7 and KHDC3L in biparental complete moles. (PMID:31220306)
• The study specified KHDC3L as a new recurrent pregnancy loss risk gene, and recognized its critical function in DNA damage repair pathways. (PMID:31609975)
• KH domain containing 3 like (KHDC3L) frame-shift mutation causes both recurrent pregnancy loss and hydatidiform mole. (PMID:33639414)
• Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith-Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances. (PMID:35643636)
• Familial recurrent molar pregnancy: positive for KHDC3L gene mutation. (PMID:37918946)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Khdc3	ENSMUSG00000092622
rattus_norvegicus	Khdc3	ENSRNOG00000054460

Paralogs (1): OOEP (ENSG00000203907)

Protein

Protein identifiers

KH domain-containing protein 3 — Q587J8 (reviewed: Q587J8)

Alternative names: ES cell-associated transcript 1 protein, KHDC3-like protein

All UniProt accessions (1): Q587J8

UniProt curated annotations — full annotation on UniProt →

Function. Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development. The SCMC complex is a structural constituent of cytoplasmic lattices, which consist in fibrous structures found in the cytoplasm of oocytes and preimplantation embryos. They are required to store maternal proteins critical for embryonic development, such as proteins that control epigenetic reprogramming of the preimplantation embryo, and prevent their degradation or activation. KHDC3 ensures proper spindle assembly by regulating the localization of AURKA via RHOA signaling and of PLK1 via a RHOA-independent process. Required for the localization of MAD2L1 to kinetochores to enable spindle assembly checkpoint function. As part of the OOEP-KHDC3 scaffold, recruits BLM and TRIM25 to DNA replication forks, thereby promoting the ubiquitination of BLM by TRIM25, enhancing BLM retainment at replication forks and therefore promoting stalled replication fork restart. Regulates homologous recombination-mediated DNA repair via recruitment of RAD51 to sites of DNA double-strand breaks, and sustainment of PARP1 activity, which in turn modulates downstream ATM or ATR activation. Activation of ATM or ATR in response to DNA double-strand breaks may be cell-type specific. Its role in DNA double-strand break repair is independent of its role in restarting stalled replication forks. Promotes neural stem cell neurogenesis and neuronal differentiation in the hippocampus. May regulate normal development of learning, memory and anxiety. Capable of binding RNA.

Subunit / interactions. Component of the subcortical maternal complex (SCMC), at least composed of NLRP5, KHDC3L, OOEP, and TLE6 isoform 1. Within the complex, interacts with NLRP5, KHDC3L and TLE6 isoform 1. The SCMC may facilitate translocation of its components between the nuclear and cytoplasmic compartments. Forms a scaffold complex with OOEP/FLOPED, and interacts with BLM and TRIM25 at DNA replication forks. Interacts with PARP1; the interaction is increased following the formation of DNA double-strand breaks. Interacts with NUMA1.

Subcellular location. Cytoplasm. Cell cortex. Nucleus. Mitochondrion. Cytoskeleton. Microtubule organizing center. Centrosome. Chromosome.

Tissue specificity. Expression appears to be maximal in germinal vesicle oocytes, it tails off through metaphase II oocytes and is undetectable following the completion of the oocyte to embryo transition.

Disease relevance. Hydatidiform mole, recurrent, 2 (HYDM2) [MIM:614293] A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Contains an atypical KH domain with amino acid changes at critical sites, suggesting that it may not bind RNA.

Induction. Induced by hydroxyurea and etoposide.

Similarity. Belongs to the KHDC1 family.

RefSeq proteins (1): NP_001017361* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031952	MOEP19_KH-like	Domain
IPR036612	KH_dom_type_1_sf	Homologous_superfamily
IPR051778	KHDC1	Family

Pfam: PF16005

UniProt features (19 total): mutagenesis site 5, compositionally biased region 4, modified residue 3, sequence variant 3, region of interest 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q587J8-F1	67.69	0.32

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 182, 145, 156

Mutagenesis-validated functional residues (5):

Position	Phenotype
145	decreases recruitment of rad51 to dna double-strand breaks, parp1 activity and atm-chk2 signaling resulting in a decreas
150–172	abolishes dna double-strand break repair. reduces the localization of the homologous recombination dna repair pathway pr
150–159	abolishes dna double-strand break repair. reduces the localization of the homologous recombination dna repair pathway pr
156	decreases recruitment of rad51 to dna double-strand breaks, parp1 activity and atm-chk2 signaling resulting in a decreas
156	no effect on recruitment of rad51 to dna double-strand breaks, parp1 activity, atm-chk2 signaling or dna double-strand b

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 100 (showing top): GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_DENDRITE_DEVELOPMENT, GOBP_REGULATION_OF_DNA_RECOMBINATION, GOBP_SPINDLE_LOCALIZATION, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_DNA_REPAIR, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_ACTIN_FILAMENT_ORGANIZATION, GOCC_CENTROSOME

GO Biological Process (11): actin filament organization (GO:0007015), replication fork processing (GO:0031297), regulation of protein localization (GO:0032880), positive regulation of embryonic development (GO:0040019), negative regulation of apoptotic process (GO:0043066), positive regulation of neurogenesis (GO:0050769), establishment of organelle localization (GO:0051656), protein storage (GO:0140089), positive regulation of dendrite development (GO:1900006), positive regulation of double-strand break repair via homologous recombination (GO:1905168), positive regulation of double-strand break repair (GO:2000781)

GO Molecular Function (3): RNA binding (GO:0003723), structural constituent of cytoplasmic lattice (GO:0140094), protein binding (GO:0005515)

GO Cellular Component (10): nucleus (GO:0005634), chromosome (GO:0005694), cytoplasm (GO:0005737), mitochondrion (GO:0005739), centrosome (GO:0005813), cell cortex (GO:0005938), protein-containing complex (GO:0032991), subcortical maternal complex (GO:0106333), cytoplasmic lattice (GO:0140095), cytoskeleton (GO:0005856)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	3
positive regulation of developmental process	2
intracellular membrane-bounded organelle	2
cytoplasm	2
actin cytoskeleton organization	1
supramolecular fiber organization	1
DNA-templated DNA replication maintenance of fidelity	1
intracellular protein localization	1
regulation of localization	1
embryo development	1
regulation of embryonic development	1
positive regulation of multicellular organismal process	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
positive regulation of cell development	1
neurogenesis	1
regulation of neurogenesis	1
positive regulation of nervous system development	1
establishment of localization	1
organelle localization	1
nutrient storage	1
positive regulation of neuron projection development	1
dendrite development	1
regulation of dendrite development	1
double-strand break repair via homologous recombination	1
regulation of double-strand break repair via homologous recombination	1
positive regulation of DNA recombination	1
positive regulation of double-strand break repair	1
double-strand break repair	1
positive regulation of DNA repair	1
regulation of double-strand break repair	1
nucleic acid binding	1
structural molecule activity	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
centriole	1
microtubule organizing center	1
cell periphery	1

Protein interactions and networks

STRING

1182 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KHDC3L	KHDC1	Q4VXA5	981
KHDC3L	NLRP7	Q8WX94	918
KHDC3L	TLE6	Q9H808	916
KHDC3L	NLRP5	P59047	912
KHDC3L	OOEP	A6NGQ2	830
KHDC3L	PADI6	Q6TGC4	824
KHDC3L	NLRP2	Q9NX02	805
KHDC3L	ZFP57	Q9NU63	588
KHDC3L	ZAR1	Q86SH2	512
KHDC3L	PATL2	C9JE40	506
KHDC3L	KHDC1L	Q5JSQ8	429
KHDC3L	TOP6BL	Q8N6T0	417
KHDC3L	TUBB8	Q3ZCM7	414
KHDC3L	REC114	Q7Z4M0	370
KHDC3L	WEE2	P0C1S8	370

IntAct

12 interactions, top by confidence:

A	B	Type	Score
KHDC3L	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.560
OOEP	KHDC3L	psi-mi:“MI:0915”(physical association)	0.460
KHDC3L	OOEP	psi-mi:“MI:0915”(physical association)	0.460
KHDC3L	OOEP	psi-mi:“MI:0403”(colocalization)	0.460
NLRP5	KHDC3L	psi-mi:“MI:0915”(physical association)	0.400
TLE6	KHDC3L	psi-mi:“MI:0915”(physical association)	0.400
KHDC3L	NLRP7	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (1): KHDC3L (Positive Genetic)

ESM2 similar proteins: A0A0J9YX94, A0A0J9YXQ4, A0A0J9YY54, A0A494C1R9, A5D7L8, A6NDY0, A6NKD2, A7E321, E9PGG2, F6SZT2, O14771, O19110, O75807, O88852, P0CV98, P0CV99, P0CW00, P0CW01, P0CW24, P17564, P78358, Q01534, Q0P5N2, Q15735, Q2KI51, Q2M329, Q587J8, Q5DTT8, Q5R5G8, Q5R6R8, Q5SV97, Q60465, Q62881, Q69ZB3, Q6P752, Q86V59, Q8BSI6, Q8IWY8, Q8N3D4, Q8VD63

Diamond homologs: A0JNQ6, A6NC42, A6NGQ2, A9X185, F6SZT2, P85965, Q06VW1, Q0ZFW8, Q587J8, Q9CQS7, D3ZVV1, Q9CWE6, Q9CWU5

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
ATM	“up-regulates activity”	KHDC3L	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

47 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	36
Likely benign	4
Benign	1

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
157611	NM_001017361.3(KHDC3L):c.299_302del (p.Ile100fs)	Pathogenic
30926	NM_001017361.3(KHDC3L):c.3G>T (p.Met1Ile)	Pathogenic
30927	NM_001017361.3(KHDC3L):c.322_325del (p.Asp108fs)	Pathogenic
208592	NM_001017361.3(KHDC3L):c.334C>T (p.Gln112Ter)	Likely pathogenic

SpliceAI

376 predictions. Top by Δscore:

Variant	Effect	Δscore
6:73363271:AAAGG:A	donor_loss	1.0000
6:73363274:GGTAC:G	donor_loss	1.0000
6:73363275:GTACG:G	donor_loss	1.0000
6:73363276:T:A	donor_loss	1.0000
6:73362895:TTCG:T	donor_loss	0.9900
6:73362899:G:GC	donor_loss	0.9900
6:73362899:G:GG	donor_gain	0.9900
6:73362900:T:TG	donor_loss	0.9900
6:73362901:G:GC	donor_loss	0.9900
6:73362902:AGTGG:A	donor_loss	0.9900
6:73362903:G:T	donor_loss	0.9900
6:73363270:GAAAG:G	donor_gain	0.9900
6:73363275:G:GG	donor_gain	0.9900
6:73363089:GCGCA:G	acceptor_loss	0.9800
6:73363090:CGCAG:C	acceptor_loss	0.9800
6:73363091:GCAGG:G	acceptor_loss	0.9800
6:73363092:CA:C	acceptor_loss	0.9800
6:73363094:G:GT	acceptor_loss	0.9800
6:73363094:GGCC:G	acceptor_gain	0.9800
6:73363551:TCCA:T	acceptor_loss	0.9800
6:73363554:A:AG	acceptor_gain	0.9800
6:73363555:G:GA	acceptor_loss	0.9800
6:73363555:G:GG	acceptor_gain	0.9800
6:73362860:T:TA	donor_loss	0.9700
6:73362861:A:AA	donor_loss	0.9700
6:73363093:A:AG	acceptor_gain	0.9700
6:73363093:AGGCC:A	acceptor_gain	0.9700
6:73363094:G:GG	acceptor_gain	0.9700
6:73363094:GGCCG:G	acceptor_gain	0.9700
6:73363271:AAAG:A	donor_gain	0.9700

AlphaMissense

1397 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:73363193:T:C	F90L	0.990
6:73363195:T:A	F90L	0.990
6:73363195:T:G	F90L	0.990
6:73362895:T:C	F56L	0.988
6:73362897:C:A	F56L	0.988
6:73362897:C:G	F56L	0.988
6:73363185:T:C	I87T	0.988
6:73363197:G:A	G91E	0.980
6:73363185:T:G	I87S	0.978
6:73362829:T:C	F34L	0.976
6:73362831:C:A	F34L	0.976
6:73362831:C:G	F34L	0.976
6:73362841:T:C	F38L	0.976
6:73362843:C:A	F38L	0.976
6:73362843:C:G	F38L	0.976
6:73363113:T:C	I63T	0.973
6:73363213:G:C	Q96H	0.971
6:73363213:G:T	Q96H	0.971
6:73363146:T:G	I74S	0.970
6:73363233:T:G	I103S	0.969
6:73363146:T:C	I74T	0.968
6:73362826:T:A	W33R	0.967
6:73362826:T:C	W33R	0.967
6:73363242:T:C	L106P	0.965
6:73362896:T:C	F56S	0.964
6:73363196:G:T	G91W	0.964
6:73363146:T:A	I74N	0.958
6:73362893:T:C	I55T	0.957
6:73363191:T:A	V89E	0.957
6:73363196:G:A	G91R	0.955

dbSNP variants (sampled 300 via entrez): RS1000747920 (6:73364278 T>A), RS1000800174 (6:73363969 T>C), RS1002866676 (6:73361811 C>G,T), RS1002919072 (6:73362205 G>A), RS1003543000 (6:73362645 C>A,T), RS1003596703 (6:73362301 G>A,T), RS1004551612 (6:73360684 A>C), RS1004596920 (6:73364228 C>G), RS1004649367 (6:73363897 G>A,T), RS1005546587 (6:73362248 A>G), RS1006758967 (6:73361354 T>C), RS1007017583 (6:73363384 G>A), RS1007609210 (6:73364600 T>A), RS1009501086 (6:73364561 C>G), RS1011427784 (6:73363291 A>G)

Disease associations

OMIM: gene MIM:611687 | disease phenotypes: MIM:614293, MIM:231090

GenCC curated gene-disease

Disease	Classification	Inheritance
hydatidiform mole, recurrent, 2	Strong	Autosomal recessive
complete hydatidiform mole	Supportive	Autosomal recessive

Mondo (3): hydatidiform mole, recurrent, 2 (MONDO:0013671), hydatidiform mole (MONDO:0006248), complete hydatidiform mole (MONDO:0016785)

Orphanet (2): Complete hydatidiform mole (Orphanet:254688), Hydatidiform mole (Orphanet:99927)

HPO phenotypes

2 total (2 of 2 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0032192	Hydatidiform mole

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D006828	Hydatidiform Mole	C04.557.465.955.416.812; C04.850.908.416.750; C12.050.703.720.949.416.875

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Resveratrol	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

13 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01630954	PHASE4	UNKNOWN	A Comparison of Single Versus Double Evacuation for Treatment of Hydatidiform Mole
NCT00003702	PHASE3	COMPLETED	Methotrexate Compared With Dactinomycin in Treating Patients With Gestational Trophoblastic Neoplasia
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