autosomal recessive osteopetrosis 5
Findings
No curated finding names autosomal recessive osteopetrosis 5 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 OSTM1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009817), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
37 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.
- Cranial hyperostosisHPOHP:0004437
- 1 of 1 reported patient
- Facial palsyHPOHP:0010628
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Hypochromic microcytic anemiaHPOHP:0004840
- 1 of 1 reported patient
- Increased bone mineral densityHPOHP:0011001
- 2 of 2 reported patients
- Increased total leukocyte countHPOHP:0001974
- 1 of 1 reported patient
- IrritabilityHPOHP:0000737
Show the remaining 25
- Visual impairmentHPOHP:0000505
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 3 of 4 reported patients
- ThrombocytopeniaHPOHP:0001873
- 3 of 4 reported patients
- AnemiaHPOHP:0001903
- 2 of 3 reported patients
- HepatosplenomegalyHPOHP:0001433
- 2 of 3 reported patients
- Optic disc pallorHPOHP:0000543
- 2 of 3 reported patients
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.
- OSTM1HGNC:21652
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
5 names
Resolves to: autosomal recessive osteopetrosis 5
- Also called
- autosomal recessive osteopetrosis type 5OPTB5osteopetrosis (disease) caused by mutation in OSTM1osteopetrosis, autosomal recessive type 5OSTM1 osteopetrosis (disease)