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Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.
Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 12:51 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Features include always present findings: Elevated circulating alkaline phosphatase concentration, Low muscle tone (hypotonia), Short humerus, and Relative macrocephaly and others; and very common findings: Short stature, Weak and brittle bones (osteoporosis), Recurrent fractures, and Macrocephaly and others. 44 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 7 | Lateral femoral bowing, Weak and brittle bones (osteoporosis), Increased bone density (increased bone mineral density) |
Eyes | 6 | Angioid streaks of the fundus, Retinal degeneration, Macular scar |
Muscles | 4 | Low muscle tone (hypotonia), Muscle weakness, Delayed gross motor development |
Ears | 2 | Hearing loss (hearing impairment), Inner ear hearing loss (sensorineural hearing impairment) |
Growth and development | 2 | Short stature, Failure to thrive |
Lab test results | 2 | Elevated circulating alkaline phosphatase concentration, Elevated serum acid phosphatase |
Head and neck | 2 | Relative macrocephaly, Macrocephaly |
Brain and nerves | 1 | Delayed gross motor development |
Heart and blood vessels | 1 | Hypertension |
Skin | 1 | Subcutaneous nodule |
TNFRSF11B function has not been fully characterized.
Juvenile Paget disease is associated with mutations in the TNFRSF11B gene on chromosome 8.
Genetic testing for TNFRSF11B is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 10 always present features, 10 very common features, 5 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for juvenile Paget disease.
9 publications have been identified in PubMed for juvenile Paget disease. Research spans Case Report / Case Series (56%), Review / Meta-Analysis (11%), and Clinical Trial Publication (11%).
Salmaninejad A (2026). [PMID: 41866703](https://pubmed.ncbi.nlm.nih.gov/41866703/). *Mol Genet Genomic Med*. [Review / Meta-Analysis]
Yarci E (2026). [PMID: 42112796](https://pubmed.ncbi.nlm.nih.gov/42112796/). *J Pediatr Endocrinol Metab*. [Case Report / Case Series]
Horackova J (2025). [PMID: 40775369](https://pubmed.ncbi.nlm.nih.gov/40775369/). *Orphanet journal of rare diseases*. [Basic Science / Preclinical]
Pansa AC (2025). [PMID: 40735895](https://pubmed.ncbi.nlm.nih.gov/40735895/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Uludağ Alkaya D (2025). [PMID: 40198394](https://pubmed.ncbi.nlm.nih.gov/40198394/). *Calcified tissue international*. [Epidemiology / Natural History]
Polyzos SA (2025). [PMID: 40223037](https://pubmed.ncbi.nlm.nih.gov/40223037/). *Calcified tissue international*. [Clinical Trial Publication]
Rabouhi N (2025). [PMID: 40239339](https://pubmed.ncbi.nlm.nih.gov/40239339/). *Pediatric neurology*. [Case Report / Case Series]
Pan Y (2024). [PMID: 39687712](https://pubmed.ncbi.nlm.nih.gov/39687712/). *Frontiers in pediatrics*. [Case Report / Case Series]
Thompson MD (2024). [PMID: 38790248](https://pubmed.ncbi.nlm.nih.gov/38790248/). *Genes*. [Case Report / Case Series]
AI-curated news mentioning juvenile Paget disease
Updated Jul 31, 2026
A study identifies a homozygous intronic variant in the TNFRSF11B gene linked to early-onset juvenile Paget disease. This research provides insights into the genetic underpinnings of the disease over a two-year follow-up period.