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PDB3
MCID: PGT007
MIFTS: 36
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Paget Disease of Bone 3 (PDB3)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Paget Disease of Bone 3:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset usually after age 40 incomplete age-dependent penetrance axial skeleton most commonly affected HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases Ear diseases |
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UniProtKB/Swiss-Prot
:
75
Paget disease of bone 3: A disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone.
MalaCards based summary : Paget Disease of Bone 3, also known as osteitis deformans, is related to paget's disease of bone and mammary paget's disease, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Paget Disease of Bone 3 is SQSTM1 (Sequestosome 1). Affiliated tissues include bone, spinal cord and heart, and related phenotypes are hearing impairment and bone pain OMIM : 57 Paget disease is a metabolic bone disease characterized by focal abnormalities of increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Bone lesions in this disorder show evidence of increased osteoclastic bone resorption and disorganized bone structure. See reviews by Ralston et al. (2008) and Ralston and Albagha (2014). (167250) |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:167250Human phenotypes related to Paget Disease of Bone 3:32 (show all 7)
UMLS symptoms related to Paget Disease of Bone 3:back pain, sciatica, muscle cramp |
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Inferred drug relations via UMLS 73 / NDF-RT 51 : |
MalaCards organs/tissues related to Paget Disease of Bone 3:41
Bone,
Spinal Cord,
Heart,
Bone Marrow,
Brain,
Prostate,
Salivary Gland
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Articles related to Paget Disease of Bone 3:(show top 50) (show all 178)
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Genes related to Paget Disease of Bone 3 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Paget Disease of Bone 3:75
ClinVar genetic disease variations for Paget Disease of Bone 3:6
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Search
GEO
for disease gene expression data for Paget Disease of Bone 3.
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