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osteopetrosis, autosomal dominant 3 (OPTA3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteopetrosis, autosomal dominant 3

MONDO:0020848

Also known as:OPTA3

Overview

GeneticsAutosomal dominant · PLEKHM1 (chr 17)

ResearchLimited published research (4 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Gingivitis, Thickened calvaria, Enlarged liver (hepatomegaly), and Fatigue and others.

Organ System	Phenotype Count	Example Features
Digestive system	2	Enlarged liver (hepatomegaly), Enlarged spleen (splenomegaly)

Genetic Landscape

PLEKHM1 function has not been fully characterized.

Osteopetrosis, autosomal dominant 3 has limited evidence linking it to mutations in the PLEKHM1 gene on chromosome 17.

Diagnosis

Genetic testing for PLEKHM1 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 12 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 osteopetrosis, autosomal dominant 3.

5 publications have been identified in PubMed for osteopetrosis, autosomal dominant 3. Research spans Case Report / Case Series (75%) and Epidemiology / Natural History (25%).

Recent Publications

Polgreen LE (2025). [PMID: 38661205](https://pubmed.ncbi.nlm.nih.gov/38661205/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]
Liu M (2025). [PMID: 39994654](https://pubmed.ncbi.nlm.nih.gov/39994654/). *BMC Med Genomics*. [Case Report / Case Series]
Jodeh W (2024). [PMID: 38261998](https://pubmed.ncbi.nlm.nih.gov/38261998/). *J Clin Endocrinol Metab*. [Case Report / Case Series]
Avijgan F (2024). [PMID: 39191157](https://pubmed.ncbi.nlm.nih.gov/39191157/). *Int J Surg Case Rep*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618107

Questions for Your Care Team

→Should I pursue genetic testing for PLEKHM1, and what would the results mean for my family?
→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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osteopetrosis, autosomal dominant 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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