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Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TNFRS11A gene.
Features include always present findings: Osteopetrosis and Progressive visual loss; and common findings: Enlarged liver (hepatomegaly), Nystagmus, Enlarged spleen (splenomegaly), and Decreased circulating IgG concentration and others. 24 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 4 | Femur fracture, Abnormal trabecular bone morphology, Osteopetrosis |
Eyes | 3 | Nystagmus, Optic nerve compression, Damage to the optic nerve (optic atrophy) |
Brain and nerves | 3 | Hydrocephalus, Hypocalcemic seizures, Global developmental delay |
Digestive system | 2 | Enlarged liver (hepatomegaly), Enlarged spleen (splenomegaly) |
Muscles | 2 | Generalized hypotonia, Damage to the optic nerve (optic atrophy) |
Blood and immune system | 2 | Low red blood cell count (anemia), Enlarged spleen (splenomegaly) |
Lungs and breathing | 1 | Recurrent pneumonia |
Growth and development | 1 | Growth delay |
TNFRSF11A function has not been fully characterized.
Autosomal recessive osteopetrosis 7 is associated with mutations in the TNFRSF11A gene on chromosome 18.
Genetic testing for TNFRSF11A is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for autosomal recessive osteopetrosis 7 has been reported in the published literature.
Phenotype severity distribution: 2 always present features, 7 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for autosomal recessive osteopetrosis 7.
8 publications have been identified in PubMed for autosomal recessive osteopetrosis 7. Research spans Case Report / Case Series (38%), Basic Science / Preclinical (25%), and Diagnostic / Biomarker (13%).
Zhou R (2025). [PMID: 39930640](https://pubmed.ncbi.nlm.nih.gov/39930640/). *The Journal of clinical endocrinology and metabolism*. [Basic Science / Preclinical]
Ackah SA (2025). [PMID: 41277893](https://pubmed.ncbi.nlm.nih.gov/41277893/). *Bone reports*. [Epidemiology / Natural History]
Reuven N (2025). [PMID: 41408708](https://pubmed.ncbi.nlm.nih.gov/41408708/). *Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research*. [Case Report / Case Series]
McLuckey MN (2024). [PMID: 38483591](https://pubmed.ncbi.nlm.nih.gov/38483591/). *Pediatric radiology*. [Diagnostic / Biomarker]
Funck-Brentano T (2024). [PMID: 38593953](https://pubmed.ncbi.nlm.nih.gov/38593953/). *European journal of medical genetics*. [Review / Meta-Analysis]
Chiu KY (2024). [PMID: 39430360](https://pubmed.ncbi.nlm.nih.gov/39430360/). *Taiwan journal of ophthalmology*. [Case Report / Case Series]
Jodeh W (2024). [PMID: 38261998](https://pubmed.ncbi.nlm.nih.gov/38261998/). *The Journal of clinical endocrinology and metabolism*. [Case Report / Case Series]
Arunachalam AK (2024). [PMID: 39011244](https://pubmed.ncbi.nlm.nih.gov/39011244/). *Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion*. [Basic Science / Preclinical]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 4:49 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center