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hydatidiform mole, recurrent, 3 (HYDM3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hydatidiform mole, recurrent, 3

MONDO:0032746

Also known as:HYDM3

Overview

GeneticsAutosomal recessive · MEI1 (chr 22)

Clinical Presentation

Features include always present findings: Hydatidiform mole and Female infertility.

Organ System	Phenotype Count	Example Features
Hormones	1	Female infertility

Explore clinical features

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MEI1 encodes meiotic double-stranded break formation protein 1 (1,274 aa). Required for normal meiotic chromosome synapsis. May be involved in the formation of meiotic double-strand breaks (DSBs) in spermatocytes Highest expression in Testis (40.3 TPM) and Spleen (10.4 TPM).

Hydatidiform mole, recurrent, 3 is associated with mutations in the MEI1 gene on chromosome 22.

The MEI1 protein participates in SPO11:double stand break pathway.

MEI1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for MEI1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hydatidiform mole, recurrent, 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hydatidiform mole, recurrent, 3.

12 publications have been identified in PubMed for hydatidiform mole, recurrent, 3. Research spans Case Report / Case Series (42%), Diagnostic / Biomarker (17%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Patient case studies	5	42%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:35 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618431

GARD

Genetic and Rare Diseases Info Center

GARD:18367

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hydatidiform mole, recurrent, 3

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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