PDB6
MCID: PGT011
MIFTS: 21
|
Paget Disease of Bone 6 (PDB6)
Categories:
Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases
|
|
MalaCards integrated aliases for Paget Disease of Bone 6:
Characteristics:HPO:32
paget disease of bone 6:
Onset and clinical course adult onset Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases Ear diseases |
UniProtKB/Swiss-Prot
:
75
Paget disease of bone 6: An autosomal dominant form of Paget disease, 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. PDB6 is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. In some cases, the pagetic tissue undergoes neoplastic transformation, resulting in osteosarcoma and, less frequently, in giant cell tumor of bone.
MalaCards based summary : Paget Disease of Bone 6, also known as pdb6, is related to paget's disease of bone. An important gene associated with Paget Disease of Bone 6 is ZNF687 (Zinc Finger Protein 687). Affiliated tissues include bone, and related phenotypes are osteoarthritis and left ventricular hypertrophy OMIM : 57 Paget disease of bone-6 is an autosomal dominant disorder characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton. A subset of patients can develop coronary artery disease and/or malignant giant cell tumor (GCT) of the bone, which arises within the Paget bone lesions (summary by Divisato et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of Paget disease of bone, see 167250. (616833) |
Diseases in the Paget's Disease of Bone family:
Diseases related to Paget Disease of Bone 6 via text searches within MalaCards or GeneCards Suite gene sharing:
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:616833Human phenotypes related to Paget Disease of Bone 6:32 (show all 7)
|
|
MalaCards organs/tissues related to Paget Disease of Bone 6:41
Bone
|
UniProtKB/Swiss-Prot genetic disease variations for Paget Disease of Bone 6:75
ClinVar genetic disease variations for Paget Disease of Bone 6:6
|
Search
GEO
for disease gene expression data for Paget Disease of Bone 6.
|
|
|