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autosomal recessive osteopetrosis 8 (OPTB8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive osteopetrosis 8

MONDO:0014040

Also known as:OPTB8SNX10 autosomal recessive malignant osteopetrosisSNX10 autosomal recessive osteopetrosis

Overview

Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene.

GeneticsAutosomal recessive · SNX10 (chr 7)

ResearchLimited published research (8 articles)

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 always present findings: Osteopetrosis and Damage to the optic nerve (optic atrophy); and very common findings: Visual loss and Low red blood cell count (anemia). 13 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	3	Feeding difficulties, Enlarged liver (hepatomegaly), Enlarged spleen (splenomegaly)

Genetic Landscape

SNX10 function has not been fully characterized.

Autosomal recessive osteopetrosis 8 is caused by mutations in the SNX10 gene on chromosome 7.

Diagnosis

Genetic testing for SNX10 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive osteopetrosis 8 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present features, 2 very common features, 4 common features.

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 8.

8 publications have been identified in PubMed for autosomal recessive osteopetrosis 8. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (38%), and Diagnostic / Biomarker (13%).

Recent Publications

Bilici ME (2025). [PMID: 40668134](https://pubmed.ncbi.nlm.nih.gov/40668134/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Ackah SA (2025). [PMID: 41277893](https://pubmed.ncbi.nlm.nih.gov/41277893/). *Bone Rep*. [Diagnostic / Biomarker]
Whitlock JM (2025). [PMID: 40964326](https://pubmed.ncbi.nlm.nih.gov/40964326/). *bioRxiv*. [Basic Science / Preclinical]
Liu M (2025). [PMID: 39994654](https://pubmed.ncbi.nlm.nih.gov/39994654/). *BMC Med Genomics*. [Case Report / Case Series]
Reuven N (2025). [PMID: 41408708](https://pubmed.ncbi.nlm.nih.gov/41408708/). *J Bone Miner Res*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 1:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615085

GARD

Genetic and Rare Diseases Info Center

GARD:15905

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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autosomal recessive osteopetrosis 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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