autosomal dominant osteopetrosis 1
Findings
No curated finding names autosomal dominant osteopetrosis 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant osteopetrosis type I (ADO I) is a sclerosing bone disorder characterized by skeletal densification that predominantly involves the cranial vault.
Definition from the Mondo Disease Ontology (MONDO:0011877), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Thickened cortex of long bonesHPOHP:0000935
- 4 of 10 reported patients
- Calvarial osteosclerosisHPOHP:0005450
- 3 of 10 reported patients
- Torus palatinusHPOHP:0100789
- 3 of 10 reported patients
- HeadacheHPOHP:0002315
- 2 of 10 reported patients
- Mandibular painHPOHP:0200025
- 1 of 10 reported patients
- Elevated serum acid phosphataseHPOHP:0003148
- 0 of 10 reported patients
- Recurrent fracturesHPOHP:0002757
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LRP5HGNC:6697
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: autosomal dominant osteopetrosis 1
- Also called
- autosomal dominant osteopetrosis type 1LRP5 osteopetrosis (disease)OPTA1osteopetrosis (disease) caused by mutation in LRP5osteopetrosis, autosomal dominant type 1