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Features include sometimes findings: Hearing loss (hearing impairment). 7 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 5 | Bone pain, Patchy osteosclerosis, Recurrent long bone fractures |
Ears |
SQSTM1 function has not been fully characterized.
Paget disease of bone 3 is associated with mutations in the SQSTM1 gene on chromosome 5.
Genetic testing for SQSTM1 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Paget disease of bone 3 has been reported in the published literature.
No clinical trials have been registered for Paget disease of bone 3.
69 publications have been identified in PubMed for Paget disease of bone 3. Research spans Case Report / Case Series (29%), Epidemiology / Natural History (22%), and Basic Science / Preclinical (19%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 20 | 29% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:22 PM UTC
Online Mendelian Inheritance in Man
Common questions about Paget disease of bone 3
1
Hearing loss (hearing impairment) |
Lab test results | 1 | Elevated circulating alkaline phosphatase concentration |
15 |
22% |
Laboratory research | 13 | 19% |
Research summaries | 7 | 10% |
Testing and diagnosis research | 6 | 9% |
Clinical study results | 6 | 9% |
New treatment approaches | 2 | 3% |
Agarwal N (2027). [PMID: 42229491](https://pubmed.ncbi.nlm.nih.gov/42229491/). *Lancet Healthy Longev*. [Review / Meta-Analysis]
Rosen R (2026). [PMID: 41039655](https://pubmed.ncbi.nlm.nih.gov/41039655/). *Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology*. [Epidemiology / Natural History]
Ridah W (2026). [PMID: 41526553](https://pubmed.ncbi.nlm.nih.gov/41526553/). *Clinical rheumatology*. [Epidemiology / Natural History]
Liu H (2026). [PMID: 41692957](https://pubmed.ncbi.nlm.nih.gov/41692957/). *Autophagy*. [Diagnostic / Biomarker]
Dhifallah M (2026). [PMID: 41787798](https://pubmed.ncbi.nlm.nih.gov/41787798/). *International journal of rheumatic diseases*. [Case Report / Case Series]
Sokolik ID (2026). [PMID: 40897945](https://pubmed.ncbi.nlm.nih.gov/40897945/). *Skeletal radiology*. [Clinical Trial Publication]
Che Rahimi F (2026). [PMID: 42216162](https://pubmed.ncbi.nlm.nih.gov/42216162/). *BMC Oral Health*. [Epidemiology / Natural History]
Wang Y (2026). [PMID: 41630218](https://pubmed.ncbi.nlm.nih.gov/41630218/). *Medicine*. [Case Report / Case Series]
Xie X (2026). [PMID: 41669350](https://pubmed.ncbi.nlm.nih.gov/41669350/). *Frontiers in medicine*. [Case Report / Case Series]
Roa-Escobar J (2026). [PMID: 40847817](https://pubmed.ncbi.nlm.nih.gov/40847817/). *Amyotrophic lateral sclerosis & frontotemporal degeneration*. [Case Report / Case Series]