autosomal dominant osteopetrosis 2
Findings
No curated finding names autosomal dominant osteopetrosis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).
Definition from the Mondo Disease Ontology (MONDO:0008156), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
36 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.
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- ArthritisHPOHP:0001369
- Very frequent (80% to 99% of cases)
- Avascular necrosisHPOHP:0010885
- Very frequent (80% to 99% of cases)
- Bone painHPOHP:0002653
- Very frequent (80% to 99% of cases)
Show the remaining 24
- Mandibular osteomyelitisHPOHP:0007626
- Very frequent (80% to 99% of cases)
- OsteoarthritisHPOHP:0002758
- Very frequent (80% to 99% of cases)
- OsteomyelitisHPOHP:0002754
- Very frequent (80% to 99% of cases)
- Recurrent fracturesHPOHP:0002757
- Very frequent (80% to 99% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
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.
- CLCN7HGNC:2025
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Semidominant · 2019
Where it sits
- A kind of
Other names
5 names
Resolves to: autosomal dominant osteopetrosis 2
- Also called
- Albers-Schönberg osteopetrosisautosomal dominant osteopetrosis type 2OPTA2osteopetrosis autosomal dominant type 2osteopetrosis, autosomal dominant type 2