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autosomal dominant osteopetrosis 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant osteopetrosis 1

MONDO:0011877

Also known as:LRP5 osteopetrosis (disease)OPTA1autosomal dominant osteopetrosis type 1

Overview

Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.

GeneticsAutosomal dominant · LRP5 (chr 11)

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 common findings: Calvarial osteosclerosis, Thickened cortex of long bones, and Torus palatinus; and sometimes findings: Mandibular pain and Headache. 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	7	Calvarial osteosclerosis, Abnormality of the vertebral column, Osteopetrosis

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.

LRP5 encodes LDL receptor related protein 5 (1,615 aa). Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins. Highest expression in Artery Aorta (83.2 TPM) and Artery Tibial (67.8 TPM).

Autosomal dominant osteopetrosis 1 is associated with mutations in the LRP5 gene on chromosome 11.

The LRP5 protein participates in LRP5 D666_L809del, Signaling by LRP5 mutants, and Negative regulation of TCF-dependent signaling by WNT ligand antagonists pathways.

LRP5 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for LRP5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 common 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 autosomal dominant osteopetrosis 1.

12 publications have been identified in PubMed for autosomal dominant osteopetrosis 1. Research spans Case Report / Case Series (45%), Basic Science / Preclinical (18%), and Gene Therapy / Novel Therapeutics (18%).

Research Type	Count	% of Total
Patient case studies	5	45%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607634

Orphanet

European rare disease database

Orphanet:2783

GARD

Genetic and Rare Diseases Info Center

GARD:4151

Questions for Your Care Team

→Should I pursue genetic testing for LRP5, 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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Kisho

autosomal dominant osteopetrosis 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

autosomal dominant osteopetrosis 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications