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autosomal recessive osteopetrosis 6 (OPTB6) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Osteopetrosis and Cortical sclerosis of the iliac wing; and very common findings: Abnormality of bone mineral density. 24 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	9	Osteopetrosis, Erlenmeyer flask deformity of the femurs, Abnormality of bone mineral density
Brain and nerves	3	Nervous system problems (abnormality of the nervous system), Cranial nerve compression, Optic atrophy from cranial nerve compression
Eyes	2	Visual impairment, Optic atrophy from cranial nerve compression
Blood and immune system	1	Low red blood cell count (anemia)
Lab test results	1	Elevated circulating alkaline phosphatase concentration
Digestive system	1	Hepatosplenomegaly
Muscles	1	Optic atrophy from cranial nerve compression

Age of onset: infancy.

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 recessive osteopetrosis 6.

13 publications have been identified in PubMed for autosomal recessive osteopetrosis 6. Research spans Case Report / Case Series (31%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Patient case studies	4	31%
Research summaries	3	23%
Laboratory research	2	15%
Other research	1	8%
Testing and diagnosis research	1	8%
Disease patterns and progression	1	8%
New treatment approaches	1	8%

Recent Publications

Bailey JR (2026). [PMID: 32491461](https://pubmed.ncbi.nlm.nih.gov/32491461/). *Unknown Journal*. [Review / Meta-Analysis]
Najdanović JG (2026). [PMID: 42131975](https://pubmed.ncbi.nlm.nih.gov/42131975/). *Hum Gene Ther*. [Review / Meta-Analysis]
Ackah SA (2025). [PMID: 41277893](https://pubmed.ncbi.nlm.nih.gov/41277893/). *Bone reports*. [Epidemiology / Natural History]
Jiang J (2025). [PMID: 40694017](https://pubmed.ncbi.nlm.nih.gov/40694017/). *International journal of surgery (London, England)*. [Gene Therapy / Novel Therapeutics]
Liu M (2025). [PMID: 39994654](https://pubmed.ncbi.nlm.nih.gov/39994654/). *BMC medical genomics*. [Case Report / Case Series]
Abdulsalam TA (2025). [PMID: 40625472](https://pubmed.ncbi.nlm.nih.gov/40625472/). *Cureus*. [Case Report / Case Series]
Hou F (2025). [PMID: 41305810](https://pubmed.ncbi.nlm.nih.gov/41305810/). *Medicine*. [Basic Science / Preclinical]
Funck-Brentano T (2024). [PMID: 38593953](https://pubmed.ncbi.nlm.nih.gov/38593953/). *European journal of medical genetics*. [Other]
Shamsian BS (2024). [PMID: 38655726](https://pubmed.ncbi.nlm.nih.gov/38655726/). *Pediatric transplantation*. [Case Report / Case Series]
Das BK (2024). [PMID: 38586475](https://pubmed.ncbi.nlm.nih.gov/38586475/). *JBMR plus*. [Review / Meta-Analysis]

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autosomal recessive osteopetrosis 6

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

autosomal recessive osteopetrosis 6

Overview

Clinical Presentation

Explore clinical features

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