Paget Disease of Bone 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Bone diseases Neuronal diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 616833

OMIM Phenotypic Series ⁵⁶ PS167250

MeSH ⁴³ D010001

MedGen ⁴¹ C4085250 CN235346

SNOMED-CT via HPO ⁶⁸ 12584003 134291007 225655006 more

Sources

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)

Sources

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

Sources

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

Sources

Drugs & Therapeutics for Paget Disease of Bone 6

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

Sources

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

Sources

Anatomical Context for Paget Disease of Bone 6

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

⁴⁰

Bone

Sources

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	Divisato G...Gianfrancesco F	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	Gianfrancesco F...Gennari L	22936311	2013
3	Giant cell tumor and Paget's disease of bone in one family: geographic clustering. ⁵⁶ ⁶	Rendina D...Nunziata V	15123951	2004
4	Molecular effect of an OPTN common variant associated to Paget's disease of bone. ⁶¹	Silva IAL...Michou L	29782529	2018
5	Genetic association study of UCMA/GRP and OPTN genes (PDB6 locus) with Paget's disease of bone. ⁶¹	Michou L...Cancela ML	22796589	2012

Sources

Genes for Paget Disease of Bone 6

Genes related to Paget Disease of Bone 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ZNF687	Zinc Finger Protein 687	Protein Coding	1327.84	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	22936311 15123951 26849110

Sources

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

Sources

Expression for Paget Disease of Bone 6

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

Sources

Pathways for Paget Disease of Bone 6

Sources

GO Terms for Paget Disease of Bone 6

Sources

Sources for Paget Disease of Bone 6

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Paget Disease of Bone 6 (PDB6)

Aliases & Classifications for Paget Disease of Bone 6

MalaCards integrated aliases for Paget Disease of Bone 6:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Paget Disease of Bone 6

Related Diseases for Paget Disease of Bone 6

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 & Phenotypes for Paget Disease of Bone 6

Human phenotypes related to Paget Disease of Bone 6:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Paget Disease of Bone 6

Genetic Tests for Paget Disease of Bone 6

Genetic tests related to Paget Disease of Bone 6:

Anatomical Context for Paget Disease of Bone 6

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

Publications for Paget Disease of Bone 6

Articles related to Paget Disease of Bone 6:

Genes for Paget Disease of Bone 6

Genes related to Paget Disease of Bone 6 (1 elite genes):

Variations for Paget Disease of Bone 6

ClinVar genetic disease variations for Paget Disease of Bone 6:

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

Cosmic variations for Paget Disease of Bone 6:

Expression 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