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Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene.
Features include always present findings: Hydatidiform mole.
KHDC3L encodes KH domain containing 3 like, subcortical maternal complex member (217 aa). Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development. Highest expression in Brain Cerebellar Hemisphere (2.1 TPM) and Brain Cerebellum (1.8 TPM).
Hydatidiform mole, recurrent, 2 is associated with mutations in the KHDC3L gene on chromosome 6.
KHDC3L is classified as a druggable target with score 0.0.
Genetic testing for KHDC3L is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for hydatidiform mole, recurrent, 2 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for hydatidiform mole, recurrent, 2.
14 publications have been identified in PubMed for hydatidiform mole, recurrent, 2. Research spans Review / Meta-Analysis (36%), Case Report / Case Series (21%), and Basic Science / Preclinical (21%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 5 | 36% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:53 PM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Patient case studies
3 |
21% |
Laboratory research | 3 | 21% |
Testing and diagnosis research | 1 | 7% |
Clinical study results | 1 | 7% |
Disease patterns and progression | 1 | 7% |
Feist H (2026). [PMID: 41524957](https://pubmed.ncbi.nlm.nih.gov/41524957/). *Pathologie (Heidelberg, Germany)*. [Review / Meta-Analysis]
Wang X (2026). [PMID: 41812828](https://pubmed.ncbi.nlm.nih.gov/41812828/). *Human pathology*. [Basic Science / Preclinical]
Xu Q (2025). [PMID: 40493978](https://pubmed.ncbi.nlm.nih.gov/40493978/). *Theriogenology*. [Basic Science / Preclinical]
Özer L (2025). [PMID: 40908712](https://pubmed.ncbi.nlm.nih.gov/40908712/). *Turkish journal of obstetrics and gynecology*. [Epidemiology / Natural History]
Zhan Q (2025). [PMID: 41137301](https://pubmed.ncbi.nlm.nih.gov/41137301/). *Medicine*. [Case Report / Case Series]
Niu N (2025). [PMID: 38959396](https://pubmed.ncbi.nlm.nih.gov/38959396/). *International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists*. [Case Report / Case Series]
López CL (2025). [PMID: 40976132](https://pubmed.ncbi.nlm.nih.gov/40976132/). *Clinics (Sao Paulo, Brazil)*. [Diagnostic / Biomarker]
Anvar Z (2025). [PMID: 39763182](https://pubmed.ncbi.nlm.nih.gov/39763182/). *Molecular genetics & genomic medicine*. [Case Report / Case Series]
Nicheperovich A (2025). [PMID: 39873178](https://pubmed.ncbi.nlm.nih.gov/39873178/). *Disease models & mechanisms*. [Review / Meta-Analysis]
Braga A (2025). [PMID: 40638920](https://pubmed.ncbi.nlm.nih.gov/40638920/). *Obstetrics and gynecology*. [Review / Meta-Analysis]
AI-curated news mentioning hydatidiform mole, recurrent, 2
Updated May 15, 2026
A case report details the rupture of an interstitial ectopic pregnancy linked to an invasive hydatidiform mole with pelvic metastasis in perimenopausal women. This study contributes to the understanding of rare complications associated with ectopic pregnancies.