Paget disease of bone 2, early-onset
MONDO:0011183Mondo
Findings
No curated finding names Paget disease of bone 2, early-onset yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Progressive · Third trimester onset
HPO, annotations 2026-09-02
Features
11 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.
- Bilateral conductive hearing impairmentHPOHP:0008513
- 1 of 1 reported patient
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Femoral bowingHPOHP:0002980
- 1 of 1 reported patient
- HeadacheHPOHP:0002315
- 1 of 1 reported patient
- HypercalcemiaHPOHP:0003072
- 1 of 1 reported patient
- Increased susceptibility to fracturesHPOHP:0002659
- 1 of 1 reported patient
- Osteosclerosis of the ulnaHPOHP:0003991
- 1 of 1 reported patient
- Sandwich appearance of vertebral bodiesHPOHP:0004618
- 1 of 1 reported patient · Childhood onset
- Sclerosis of skull baseHPOHP:0002694
- 1 of 1 reported patient · Childhood onset
- Short femurHPOHP:0003097
- 1 of 1 reported patient
- Spontaneous tooth lossHPOHP:0006480
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.
- TNFRSF11AHGNC:11908
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of