PDB6
MCID: PGT011
MIFTS: 25

Paget Disease of Bone 6 (PDB6)

Categories: Bone diseases, Cancer diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal 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 56 73 29 6
Pdb6 56 73
Paget Disease of Bone, Type 6 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in adulthood


HPO:

31
paget disease of bone 6:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 56 616833
OMIM Phenotypic Series 56 PS167250
MeSH 43 D010001

Summaries for Paget Disease of Bone 6

UniProtKB/Swiss-Prot : 73 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 mammary paget's disease and 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 left ventricular hypertrophy and nephrocalcinosis

OMIM : 56 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 mammary paget's disease 10.2
2 paget's disease of bone 10.2

Symptoms & Phenotypes for Paget Disease of Bone 6

Human phenotypes related to Paget Disease of Bone 6:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 left ventricular hypertrophy 31 occasional (7.5%) HP:0001712
2 nephrocalcinosis 31 occasional (7.5%) HP:0000121
3 coronary artery atherosclerosis 31 occasional (7.5%) HP:0001677
4 recurrent fractures 31 HP:0002757
5 osteoarthritis 31 HP:0002758
6 bone pain 31 HP:0002653
7 elevated alkaline phosphatase 31 HP:0003155

Symptoms via clinical synopsis from OMIM:

56
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

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:

40
Bone

Publications for Paget Disease of Bone 6

Articles related to Paget Disease of Bone 6:

# Title Authors PMID Year
1
ZNF687 Mutations in Severe Paget Disease of Bone Associated with Giant Cell Tumor. 56 6
26849110 2016
2
Giant cell tumor occurring in familial Paget's disease of bone: report of clinical characteristics and linkage analysis of a large pedigree. 56 6
22936311 2013
3
Giant cell tumor and Paget's disease of bone in one family: geographic clustering. 56 6
15123951 2004
4
Molecular effect of an OPTN common variant associated to Paget's disease of bone. 61
29782529 2018
5
Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone. 61
22796589 2012

Variations for Paget Disease of Bone 6

ClinVar genetic disease variations for Paget Disease of Bone 6:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF687 NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg)SNV Pathogenic 222987 rs148402804 1:151262329-151262329 1:151289853-151289853
2 ZNF687 NM_020832.3(ZNF687):c.725G>T (p.Ser242Ile)SNV Pathogenic 222988 rs869025582 1:151259492-151259492 1:151287016-151287016
3 ZNF687 NM_020832.3(ZNF687):c.2810C>A (p.Pro937His)SNV Uncertain significance 801543 1:151262329-151262329 1:151289853-151289853

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

73
# Symbol AA change Variation ID SNP ID
1 ZNF687 p.Pro937Arg VAR_076535 rs148402804

Cosmic variations for Paget Disease of Bone 6:

9 (show all 19)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM89672495 SMARCA4 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
2 COSM86627225 RB1 bone,NS,osteosarcoma,osteoblastic c.1399C>T p.R467* 13:48380062-48380062 15
3 COSM148074003 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
4 COSM131036045 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
5 COSM148686649 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
6 COSM151631645 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
7 COSM151254331 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
8 COSM111409195 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
9 COSM151575488 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
10 COSM138949448 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
11 COSM109750654 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
12 COSM140853916 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
13 COSM151530034 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
14 COSM151945900 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
15 COSM151429880 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
16 COSM112796684 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
17 COSM150583656 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15
18 COSM106832283 bone,NS,osteosarcoma,osteoblastic c.2920A>G p.T974A 19:11021836-11021836 15
19 COSM149479313 bone,NS,osteosarcoma,osteoblastic c.2728A>G p.T910A 19:11021836-11021836 15

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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