Paget disease of bone 3
- Synonyms
- Paget disease of bone, familial
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (26 available)
Genes See tests for all associated and related genes
Also known as: A170, DMRV, EBIAP, FTDALS3, NADGP, OSIL, PDB3, ZIP3, p60, p62, p62B, SQSTM1
Summary: sequestosome 1
Clinical features
Help- Abnormality of metabolism/homeostasis
- Elevated circulating alkaline phosphatase concentration
Elevated circulating alkaline phosphatase concentration
- MedGen UID: 727252
- Concept ID: C1314665
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating alkaline phosphatase concentration
- Abnormality of the musculoskeletal system
- Osteolysis
Osteolysis
- MedGen UID: 1648424
- Concept ID: C4721411
- Finding: Pathologic Function
Abnormality of the musculoskeletal system
- Patchy osteosclerosis
Patchy osteosclerosis
- MedGen UID: 383784
- Concept ID: C1855845
- Finding: Finding
Abnormality of the musculoskeletal system
- Recurrent long bone fractures
Recurrent long bone fractures
- MedGen UID: 66802
- Concept ID: C0240231
- Finding: Finding
Abnormality of the musculoskeletal system
- Osteolysis
- Constitutional symptom
- Bone pain
Bone pain
- MedGen UID: 57489
- Concept ID: C0151825
- Finding: Sign or Symptom
Constitutional symptom
- Bone pain
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Neoplasm
- Osteosarcoma
Osteosarcoma
- MedGen UID: 10501
- Concept ID: C0029463
- Finding: Neoplastic Process
Neoplasm
- Osteosarcoma
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