PDB6
MCID: PGT011
MIFTS: 21

Paget Disease of Bone 6 (PDB6)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Paget Disease of Bone 6

MalaCards integrated aliases for Paget Disease of Bone 6:

Name: Paget Disease of Bone 6 57 75 29 6
Pdb6 57 75
Paget Disease of Bone, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in adulthood


HPO:

32
paget disease of bone 6:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Paget Disease of Bone 6

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)

Related Diseases for Paget Disease of Bone 6

Diseases in the Paget's Disease of Bone family:

Paget Disease of Bone 3 Paget Disease of Bone 5, Juvenile-Onset
Paget Disease of Bone 2, Early-Onset Paget Disease of Bone 4
Paget Disease of Bone 6

Diseases related to Paget Disease of Bone 6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 paget's disease of bone 31.9 PDB6 ZNF687

Symptoms & Phenotypes for Paget Disease of Bone 6

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteoarthritis
bone pain
bone deformities
paget disease of bone
polyostotic disease, primarily in axial skeleton
more
Laboratory Abnormalities:
increased alkaline phosphatase

Head And Neck Ears:
hearing loss due to bone lesions (in some patients)

Cardiovascular Heart:
left ventricular hypertrophy (in some patients)
coronary artery disease (in some patients)
valvular calcifications (in some patients)

Genitourinary Kidneys:
nephrocalcinosis (in some patients)

Neoplasia:
increased risk of giant cell tumor of bone


Clinical features from OMIM:

616833

Human phenotypes related to Paget Disease of Bone 6:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 osteoarthritis 32 HP:0002758
2 left ventricular hypertrophy 32 occasional (7.5%) HP:0001712
3 nephrocalcinosis 32 occasional (7.5%) HP:0000121
4 recurrent fractures 32 HP:0002757
5 bone pain 32 HP:0002653
6 elevated alkaline phosphatase 32 HP:0003155
7 coronary artery atherosclerosis 32 occasional (7.5%) HP:0001677

Drugs & Therapeutics for Paget Disease of Bone 6

Search Clinical Trials , NIH Clinical Center for Paget Disease of Bone 6

Genetic Tests for Paget Disease of Bone 6

Genetic tests related to Paget Disease of Bone 6:

# Genetic test Affiliating Genes
1 Paget Disease of Bone 6 29 ZNF687

Anatomical Context for Paget Disease of Bone 6

MalaCards organs/tissues related to Paget Disease of Bone 6:

41
Bone

Publications for Paget Disease of Bone 6

Variations for Paget Disease of Bone 6

UniProtKB/Swiss-Prot genetic disease variations for Paget Disease of Bone 6:

75
# Symbol AA change Variation ID SNP ID
1 ZNF687 p.Pro937Arg VAR_076535 rs148402804

ClinVar genetic disease variations for Paget Disease of Bone 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZNF687 NM_001304764.1(ZNF687): c.2810C> G (p.Pro937Arg) single nucleotide variant Pathogenic rs148402804 GRCh37 Chromosome 1, 151262329: 151262329
2 ZNF687 NM_001304764.1(ZNF687): c.2810C> G (p.Pro937Arg) single nucleotide variant Pathogenic rs148402804 GRCh38 Chromosome 1, 151289853: 151289853
3 ZNF687 NM_001304764.1(ZNF687): c.725G> T (p.Ser242Ile) single nucleotide variant Pathogenic rs869025582 GRCh37 Chromosome 1, 151259492: 151259492
4 ZNF687 NM_001304764.1(ZNF687): c.725G> T (p.Ser242Ile) single nucleotide variant Pathogenic rs869025582 GRCh38 Chromosome 1, 151287016: 151287016

Expression for Paget Disease of Bone 6

Search GEO for disease gene expression data for Paget Disease of Bone 6.

Pathways for Paget Disease of Bone 6

GO Terms for Paget Disease of Bone 6

Sources for Paget Disease of Bone 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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