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osteosclerotic metaphyseal dysplasia (OSMD) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

osteosclerotic metaphyseal dysplasia

MONDO:0014080

Also known as:OSMD

Overview

GeneticsAutosomal recessive · LRRK1 (chr 15)

ResearchLimited published research (1 article)

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: Hyporeflexia, Sclerotic vertebral endplates, Global developmental delay, and Low muscle tone (hypotonia) and others; and sometimes findings: Seizure, Elevated circulating alkaline phosphatase concentration, and Intellectual disability. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Hyporeflexia, Seizure, Global developmental delay

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.

LRRK1 encodes leucine rich repeat kinase 1 (2,015 aa). Serine/threonine-protein kinase which phosphorylates RAB proteins involved in intracellular trafficking. Phosphorylates RAB7A; this activity is dependent on protein kinase C (PKC) activation. Highest expression in Cells EBV-transformed lymphocytes (19.0 TPM) and Spleen (10.5 TPM).

Osteosclerotic metaphyseal dysplasia is associated with mutations in the LRRK1 gene on chromosome 15.

LRRK1 is classified as a druggable target (Druggable Genome, Enzyme, Kinase, and Serine Threonine Kinase categories) with score 0.0.

Diagnosis

Genetic testing for LRRK1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 6 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 osteosclerotic metaphyseal dysplasia.

1 publication has been identified in PubMed for osteosclerotic metaphyseal dysplasia. Research spans Case Report / Case Series (100%).

Recent Publications

Shammout A (2025). [PMID: 40957843](https://pubmed.ncbi.nlm.nih.gov/40957843/). *Int J Oral Maxillofac Surg*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615198

Orphanet

European rare disease database

Orphanet:500548

GARD

Genetic and Rare Diseases Info Center

GARD:17931

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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osteosclerotic metaphyseal dysplasia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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