juvenile Paget disease
Findings
No curated finding names juvenile Paget disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009394), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
28 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.
- Delayed gross motor developmentHPOHP:0002194
- 1 of 1 reported patient
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- HypercalciuriaHPOHP:0002150
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased urine deoxypyridinoline level
Show the remaining 16
- Abnormal clavicle morphologyHPOHP:0000889
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- Coarse metaphyseal trabecularizationHPOHP:0100670
- Very frequent (80% to 99% of cases)
- Cranial hyperostosisHPOHP:0004437
- Very frequent (80% to 99% of cases)
- HyperuricemiaHPOHP:0002149
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.
- TNFRSF11BHGNC:11909
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: juvenile Paget disease
- Also called
- familial hyperphosphatasiafamilial osteoectasiaHereditary Hyperphosphatasiahyperostosis corticalis deformans juvenilisJPGjuvenile Paget's disease