autosomal recessive osteopetrosis
Findings
No curated finding names autosomal recessive osteopetrosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.
Definition from the Mondo Disease Ontology (MONDO:0019026), read 2026-09-29. CC BY 4.0.
Features
43 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.
- Abnormal blistering of the skinHPOHP:0008066
- Very frequent (80% to 99% of cases)
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Abnormality of hair textureHPOHP:0010719
- Very frequent (80% to 99% of cases)
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Very frequent (80% to 99% of cases)
Show the remaining 31
- Chronic rhinitisHPOHP:0002257
- Very frequent (80% to 99% of cases)
- CraniosynostosisHPOHP:0001363
- Very frequent (80% to 99% of cases)
- Delayed eruption of teethHPOHP:0000684
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
Genes
4 genes
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 · Myriad Women's Health · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- CLCN7HGNC:2025
- Supportive · Orphanet · Autosomal recessive · 2021
- SNX10HGNC:14974
- Supportive · Orphanet · Autosomal recessive · 2021
- TNFSF11HGNC:11926
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- Narrower terms (10)
- autosomal recessive osteopetrosis 1
- autosomal recessive osteopetrosis 2
- autosomal recessive osteopetrosis 3
- autosomal recessive osteopetrosis 4
- autosomal recessive osteopetrosis 5
- autosomal recessive osteopetrosis 6
- autosomal recessive osteopetrosis 7
- autosomal recessive osteopetrosis 8
- leukocyte adhesion deficiency 3
- osteopetrosis, autosomal recessive 9
Other names
5 names
Resolves to: autosomal recessive osteopetrosis
- Also called
- autosomal recessive malignant osteopetrosisautosomal recessive osteopetrosis (disease)infantile malignant osteopetrosisOPTBosteopetrosis (disease), autosomal recessive