autosomal recessive osteopetrosis 6
Findings
No curated finding names autosomal recessive osteopetrosis 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the PLEKHM1 gene.
Definition from the Mondo Disease Ontology (MONDO:0012679), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
24 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.
- Cortical sclerosis of the iliac wingHPOHP:0033701
- 1 of 1 reported patient
- OsteopetrosisHPOHP:0011002
- 2 of 2 reported patients
- Abnormality of bone mineral densityHPOHP:0004348
- Very frequent (80% to 99% of cases)
- Back painHPOHP:0003418
- Frequent (30% to 79% of cases)
- Cortical sclerosisHPOHP:0005652
- Frequent (30% to 79% of cases)
- Erlenmeyer flask deformity of the femursHPOHP:0004975
- Juvenile onset
- Frequent (30% to 79% of cases)
Show the remaining 12
- AnemiaHPOHP:0001903
- Occasional (5% to 29% of cases)
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- Occasional (5% to 29% of cases)
- Abnormal dental morphologyHPOHP:0006482
- Very rare (1% to 4% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very rare (1% to 4% of cases)
- Chronic infectionHPOHP:0031035
- Very rare (1% to 4% of cases)
- Cranial nerve compressionHPOHP:0001293
- Very rare (1% to 4% of cases)
Genes
3 genes
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.
- PLEKHM1HGNC:29017
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
- CLCN7HGNC:2025
- Supportive · Orphanet · Autosomal recessive · 2021
- TCIRG1HGNC:11647
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: autosomal recessive osteopetrosis 6
- Also called
- autosomal recessive intermediate osteopetrosisautosomal recessive osteopetrosis type 6OPTB6osteopetrosis (disease) caused by mutation in PLEKHM1osteopetrosis, autosomal recessive type 6PLEKHM1 osteopetrosis (disease)