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

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Aliases & Classifications for Paget Disease of Bone 6

MalaCards integrated aliases for Paget Disease of Bone 6:

Name: Paget Disease of Bone 6 ⁵⁷ ⁷³ ²⁹ ⁶

Pdb6 ⁵⁷ ⁷³

Paget Disease of Bone, Type 6 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 Cardiovascular diseases Neuronal diseases Ear diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 616833

OMIM Phenotypic Series ⁵⁷ PS167250

MeSH ⁴⁴ D010001

MedGen ⁴¹ C4085250 CN235346

SNOMED-CT via HPO ⁶⁸ 12584003 134291007 225655006 more

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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® : 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) (Updated 05-Mar-2021)

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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	9.9
2	paget's disease of bone	9.9

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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®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Paget Disease of Bone 6

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

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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

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Anatomical Context for Paget Disease of Bone 6

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

⁴⁰

Bone

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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. ⁶ ⁵⁷	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. ⁶ ⁵⁷	Gianfrancesco F...Gennari L	22936311	2013
3	Giant cell tumor and Paget's disease of bone in one family: geographic clustering. ⁶ ⁵⁷	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

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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	PubMed IDs
1	ZNF687	Zinc Finger Protein 687	Protein Coding	1328.04	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Summaries Variants (show sections)	15123951 22936311 26849110

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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	rs148402804	1:151262329-151262329	1:151289853-151289853
4	ZNF687	NM_020832.3(ZNF687):c.1695C>G (p.His565Gln)	SNV	Uncertain significance	977102		1:151260462-151260462	1:151287986-151287986

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	COSM148074003	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
2	COSM131036045	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
3	COSM148686649	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
4	COSM89672495	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
5	COSM151631645	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
6	COSM151254331	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
7	COSM111409195	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
8	COSM151575488	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
9	COSM138949448	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
10	COSM109750654	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
11	COSM140853916	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
12	COSM151530034	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
13	COSM151945900	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
14	COSM151429880	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
15	COSM112796684	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
16	COSM150583656	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
17	COSM106832283	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2920A>G	p.T974A	19:11021836-11021836	12
18	COSM149479313	SMARCA4	bone,NS,osteosarcoma,osteoblastic	c.2728A>G	p.T910A	19:11021836-11021836	12
19	COSM86627225	RB1	bone,NS,osteosarcoma,osteoblastic	c.1399C>T	p.R467*	13:48380062-48380062	12

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Expression for Paget Disease of Bone 6

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

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Pathways for Paget Disease of Bone 6

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GO Terms for Paget Disease of Bone 6

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⁷¹ UMLS

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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