PDB4
MCID: PGT006
MIFTS: 16

Paget Disease of Bone 4 (PDB4)

Categories: Bone diseases, Cancer diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Paget Disease of Bone 4

MalaCards integrated aliases for Paget Disease of Bone 4:

Name: Paget Disease of Bone 4 57 13 70
Paget Disease of Bone, Type 4 39
Pdb4 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset usually after age 40
incomplete age-dependent penetrance
axial skeleton most commonly affected


HPO:

31
paget disease of bone 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 606263
OMIM Phenotypic Series 57 PS167250
MedGen 41 C1853473
UMLS 70 C1853473

Summaries for Paget Disease of Bone 4

MalaCards based summary : Paget Disease of Bone 4, is also known as paget disease of bone, type 4, and has symptoms including bone pain An important gene associated with Paget Disease of Bone 4 is PDB4 (Paget Disease Of Bone 4). Affiliated tissues include bone, and related phenotypes are hearing impairment and bone pain

More information from OMIM: 606263 PS167250

Related Diseases for Paget Disease of Bone 4

Symptoms & Phenotypes for Paget Disease of Bone 4

Human phenotypes related to Paget Disease of Bone 4:

31
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 occasional (7.5%) HP:0000365
2 bone pain 31 HP:0002653
3 osteolysis 31 HP:0002797
4 elevated alkaline phosphatase 31 HP:0003155

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skeletal:
bone pain
increased and disorganized bone remodeling
mixed regions of osteosclerosis and osteolysis
abnormal uptake of radio-labelled bisphosphates in affected sites on bone scan
deformity or enlargement of bones
more
Laboratory Abnormalities:
increased alkaline phosphatase

Head And Neck Ears:
deafness (in some patients)

Clinical features from OMIM®:

606263 (Updated 20-May-2021)

UMLS symptoms related to Paget Disease of Bone 4:


bone pain

Drugs & Therapeutics for Paget Disease of Bone 4

Search Clinical Trials , NIH Clinical Center for Paget Disease of Bone 4

Genetic Tests for Paget Disease of Bone 4

Anatomical Context for Paget Disease of Bone 4

MalaCards organs/tissues related to Paget Disease of Bone 4:

40
Bone

Publications for Paget Disease of Bone 4

Articles related to Paget Disease of Bone 4:

# Title Authors PMID Year
1
Paget disease of bone: mapping of two loci at 5q35-qter and 5q31. 57 61
11473345 2001
2
Rhizoremediation prospects of Polyaromatic hydrocarbon degrading rhizobacteria, that facilitate glutathione and glutathione-S-transferase mediated stress response, and enhance growth of rice plants in pyrene contaminated soil. 61
30149357 2018

Variations for Paget Disease of Bone 4

Expression for Paget Disease of Bone 4

Search GEO for disease gene expression data for Paget Disease of Bone 4.

Pathways for Paget Disease of Bone 4

GO Terms for Paget Disease of Bone 4

Sources for Paget Disease of Bone 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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