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Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene.
Features include always present findings: Hydatidiform mole.
NLRP7 encodes NLR family pyrin domain containing 7 (980 aa). Inhibits CASP1/caspase-1-dependent IL1B secretion Highest expression in Testis (7.5 TPM) and Cells EBV-transformed lymphocytes (0.8 TPM).
Hydatidiform mole, recurrent, 1 is associated with mutations in the NLRP7 gene on chromosome 19.
NLRP7 is classified as a druggable target with score 0.0.
Genetic testing for NLRP7 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for hydatidiform mole, recurrent, 1 has been reported in the published literature.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for hydatidiform mole, recurrent, 1.
16 publications have been identified in PubMed for hydatidiform mole, recurrent, 1. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 4 | 25% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Patient case studies
4 |
25% |
Laboratory research | 4 | 25% |
Disease patterns and progression | 3 | 19% |
Testing and diagnosis research | 1 | 6% |
Cai L (2026). [PMID: 41535518](https://pubmed.ncbi.nlm.nih.gov/41535518/). *Hum Cell*. [Basic Science / Preclinical]
Gao Z (2026). [PMID: 41786744](https://pubmed.ncbi.nlm.nih.gov/41786744/). *Nat Commun*. [Basic Science / Preclinical]
Uysal E (2026). [PMID: 42125546](https://pubmed.ncbi.nlm.nih.gov/42125546/). *Exp Ther Med*. [Case Report / Case Series]
Ha S (2026). [PMID: 42124334](https://pubmed.ncbi.nlm.nih.gov/42124334/). *Hum Reprod Update*. [Review / Meta-Analysis]
Anvar Z (2025). [PMID: 39763182](https://pubmed.ncbi.nlm.nih.gov/39763182/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Zhan Q (2025). [PMID: 41137301](https://pubmed.ncbi.nlm.nih.gov/41137301/). *Medicine (Baltimore)*. [Case Report / Case Series]
Braga A (2025). [PMID: 40638920](https://pubmed.ncbi.nlm.nih.gov/40638920/). *Obstet Gynecol*. [Review / Meta-Analysis]
Özer L (2025). [PMID: 40908712](https://pubmed.ncbi.nlm.nih.gov/40908712/). *Turk J Obstet Gynecol*. [Epidemiology / Natural History]
Niu N (2025). [PMID: 38959396](https://pubmed.ncbi.nlm.nih.gov/38959396/). *Int J Gynecol Pathol*. [Case Report / Case Series]
Moon Y (2025). [PMID: 41327433](https://pubmed.ncbi.nlm.nih.gov/41327433/). *Genome Biol*. [Diagnostic / Biomarker]
AI-curated news mentioning hydatidiform mole, recurrent, 1
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.