Phenotypes associated with the disease Paget disease of bone 2, early-onset (OMIM:602080):
- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: PCS. (PMID:25063546)
- Cranial nerve paralysis (HP:0006824). Evidence: IEA. (OMIM:602080)
- Femoral bowing (HP:0002980): Bowing (abnormal curvature) of the femur. Evidence: PCS. Frequency: 1/1. (PMID:25063546)
- Paraparesis (HP:0002385): Weakness or partial paralysis in the lower limbs. Evidence: IEA. (OMIM:602080)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 1/1. (PMID:25063546)
- Osteosclerosis of the ulna (HP:0003991): Osteosclerosis (increased density related to increased bone mass) of the ulna. Evidence: PCS. Frequency: 1/1. (PMID:25063546)
- Short femur (HP:0003097): An abnormal shortening of the femur. Evidence: PCS. Frequency: 1/1. (PMID:25063546)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:25063546)
- Sandwich appearance of vertebral bodies (HP:0004618). Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:25063546)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: PCS. Frequency: 1/1. (PMID:25063546)
- Vertebral compression fracture (HP:0002953). Evidence: IEA. (OMIM:602080)
- 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: 1/1. (PMID:25063546)
- Bilateral conductive hearing impairment (HP:0008513): A bilateral type of conductive hearing impairment. Evidence: PCS. Frequency: 1/1. (PMID:25063546)
- Osteolysis (HP:0002797): Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. Evidence: IEA. (OMIM:602080)
- Brain stem compression (HP:0002512). Evidence: IEA. (OMIM:602080)
- Bone pain (HP:0002653): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. Evidence: IEA. (OMIM:602080)
- Sclerosis of skull base (HP:0002694): Increased bone density of the skull base without significant changes in bony contour. Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463). (PMID:25063546)
- Tetraparesis (HP:0002273): Weakness of all four limbs. Evidence: IEA. (OMIM:602080)
- Recurrent long bone fractures (HP:0003084): An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna). Evidence: IEA. (OMIM:602080)
- Hydroxyprolinuria (HP:0003080): An increased concentration of 4-hydroxy-L-proline in the urine. Evidence: IEA. (OMIM:602080)
- Third trimester onset (HP:0034197): This term refers to a phenotypic feature that was first observed prior to birth during the third trimester, which is defined as 28 weeks and zero days (28+0) of gestation and beyond. Evidence: PCS. Frequency: 1/1. (PMID:25063546)
- Premature loss of teeth (HP:0006480): Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. Evidence: PCS. (PMID:25063546)
- Bowing of the long bones (HP:0006487): A bending or abnormal curvature of a long bone. Evidence: IEA. (OMIM:602080)
- Long-tract sign (HP:0002423): Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions. These include spasticity, hyperreflexia, and abnormal reflexes such as Babinski or Hoffman's sign. If possible, it is preferable to use the precise HPO terms for these abnormalities. Evidence: IEA. (OMIM:602080)
- 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:10615125)