autosomal recessive osteopetrosis 4
Findings
No curated finding names autosomal recessive osteopetrosis 4 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 CLCN7 gene.
Definition from the Mondo Disease Ontology (MONDO:0012676), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient · Neonatal onset
- 1 of 1 reported patient
- Increased bone mineral densityHPOHP:0011001
- 2 of 2 reported patients
- OsteopetrosisHPOHP:0011002
- 1 of 1 reported patient · Neonatal onset
- 2 of 2 reported patients
- PetechiaeHPOHP:0000967
- 1 of 1 reported patient
- ThrombocytopeniaHPOHP:0001873
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 2 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.
- CLCN7HGNC:2025
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
8 names
Resolves to: autosomal recessive osteopetrosis 4
- Also called
- autosomal recessive malignant osteopetrosis caused by mutation in CLCN7autosomal recessive osteopetrosis caused by mutation in CLCN7autosomal recessive osteopetrosis type 4CLCN7 autosomal recessive malignant osteopetrosisCLCN7 autosomal recessive osteopetrosisCLCN7-related osteopetrosisOPTB4osteopetrosis, autosomal recessive type 4