autosomal recessive osteopetrosis 1
Findings
No curated finding names autosomal recessive osteopetrosis 1 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 TCIRG1 gene.
Definition from the Mondo Disease Ontology (MONDO:0009815), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
16 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.
- Calvarial osteosclerosisHPOHP:0005450
- 1 of 1 reported patient
- CraniosynostosisHPOHP:0001363
- 1 of 1 reported patient
- Femur fractureHPOHP:0031846
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 5 of 5 reported patients
- Increased bone mineral densityHPOHP:0011001
- 1 of 1 reported patient
- Increased circulating lactate dehydrogenase concentrationHPOHP:0025435
- 1 of 1 reported patient
- OsteopetrosisHPO
Show the remaining 4
- MacrocephalyHPOHP:0000256
- 2 of 6 reported patients
- Cranial nerve paralysisHPOHP:0006824
- 1 of 5 reported patients
- HydrocephalusHPOHP:0000238
- 1 of 5 reported patients
- Optic atrophyHPOHP:0000648
- 1 of 5 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.
- TCIRG1HGNC:11647
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- 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
9 names
Resolves to: autosomal recessive osteopetrosis 1
- Also called
- autosomal recessive Albers-Schonberg diseaseautosomal recessive malignant osteopetrosis caused by mutation in TCIRG1autosomal recessive osteopetrosis caused by mutation in TCIRG1autosomal recessive osteopetrosis type 1infantile malignant osteopetrosis 1OPTB1osteopetrosis, autosomal recessive type 1TCIRG1 autosomal recessive malignant osteopetrosisTCIRG1 autosomal recessive osteopetrosis