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premature aging syndrome, Okamoto type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

premature aging syndrome, Okamoto type

MONDO:0011149

Also known as:premature ageing Okamoto typepremature ageing syndrome with osteosarcoma cataracts diabetes osteoporosis erythroid macrocytosis severe developmental delaypremature aging Okamoto type

Overview

GeneticsAutosomal recessive

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: Abnormal hair morphology, Microcephaly, Neoplasm, and Abnormality of blood and blood-forming tissues and 9 more.

Organ System	Phenotype Count	Example Features
Head and neck	2	Microcephaly, Round face
Bones and joints

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 premature aging syndrome, Okamoto type.

4 publications have been identified in PubMed for premature aging syndrome, Okamoto type. Research spans Case Report / Case Series (75%) and Basic Science / Preclinical (25%).

Recent Publications

Ujibe K (2026). [PMID: 41732282](https://pubmed.ncbi.nlm.nih.gov/41732282/). *iScience*. [Basic Science / Preclinical]
Fujiwara Y (2025). [PMID: 40091942](https://pubmed.ncbi.nlm.nih.gov/40091942/). *Cureus*. [Case Report / Case Series]
Hara K (2025). [PMID: 40765609](https://pubmed.ncbi.nlm.nih.gov/40765609/). *Cureus*. [Case Report / Case Series]
Rahbeeni Z (2024). [PMID: 39493154](https://pubmed.ncbi.nlm.nih.gov/39493154/). *Cureus*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601811

GARD

Genetic and Rare Diseases Info Center

GARD:4478

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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premature aging syndrome, Okamoto type

Overview

Clinical Presentation

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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