autosomal recessive osteopetrosis 8
Findings
No curated finding names autosomal recessive osteopetrosis 8 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 SNX10 gene.
Definition from the Mondo Disease Ontology (MONDO:0014040), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
13 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.
- Optic atrophyHPOHP:0000648
- 8 of 8 reported patients
- OsteopetrosisHPOHP:0011002
- 8 of 8 reported patients
- Visual lossHPOHP:0000572
- 7 of 8 reported patients
- AnemiaHPOHP:0001903
- 6 of 7 reported patients
- HepatomegalyHPOHP:0002240
- 6 of 8 reported patients
- SplenomegalyHPOHP:0001744
- 6 of 8 reported patients
- MacrocephalyHPOHP:0000256
Show the remaining 1
- Frontal bossingHPOHP:0002007
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.
- SNX10HGNC:14974
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
7 names
Resolves to: autosomal recessive osteopetrosis 8
- Also called
- autosomal recessive malignant osteopetrosis caused by mutation in SNX10autosomal recessive osteopetrosis caused by mutation in SNX10autosomal recessive osteopetrosis type 8OPTB8osteopetrosis, autosomal recessive type 8SNX10 autosomal recessive malignant osteopetrosisSNX10 autosomal recessive osteopetrosis