Phenotypes associated with the disease Paget disease of bone 7, early-onset (OMIM:621600):
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: PCS. Frequency: 9/15. (PMID:32392277;PMID:33599011)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 6/13. (PMID:32392277;PMID:33599011)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 3/13. (PMID:32392277;PMID:33599011)
- Giant cell tumor of bone (HP:0011847): A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. Evidence: PCS. Frequency: 4/10. (PMID:33599011)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 15/15. (PMID:32392277;PMID:33599011)
- Bone fracture (HP:0020110): A partial or complete breakage of the continuity of a bone. Evidence: PCS. Frequency: 3/10. (PMID:33599011)
- Pagetic bone lesion (HP:0034159): Paget's disease of bone (PDB) is a chronic progressive metabolic bone disease characterized by abnormal activation of osteoclasts that results in abnormal bone resorption and compensatory osteogenic sclerosis. DB can affect one (monostotic form) or more (polyostotic form) regions of the skeleton, with multiple constitutive symptoms, including bone pain, bone deformity, pathological fracture, tinnitus, hearing loss, vision loss, and osteoarthritis. Evidence: PCS. Frequency: 8/15. (PMID:32392277;PMID:33599011)
- Knee osteoarthritis (HP:0005086). Evidence: PCS. Frequency: 3/3. (PMID:32392277)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 10/13. (PMID:32392277;PMID:33599011)
- Fractured vertebra (HP:0041166): A partial or complete breakage of the vertebra. Evidence: PCS. Frequency: 1/1. (PMID:32392277)
- Osteoarthritis (HP:0002758): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: PCS. Frequency: 1/1. (PMID:32392277)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: PCS. Frequency: 11/15. (PMID:32392277;PMID:33599011)
- Hip osteoarthritis (HP:0008843). Evidence: PCS. Frequency: 1/1. (PMID:32392277)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:32392277)