MCID: PGT006
MIFTS: 14

Paget Disease of Bone 4

Categories: Bone 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 73
Paget Disease of Bone, Type 4 40
Pdb4 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
paget disease of bone 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 606263
MedGen 42 C1853473
UMLS 73 C1853473

Summaries for Paget Disease of Bone 4

MalaCards based summary : Paget Disease of Bone 4, also known as paget disease of bone, type 4, is related to paget's disease of bone, 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

Description from OMIM: 606263

Related Diseases for Paget Disease of Bone 4

Diseases related to Paget Disease of Bone 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 paget's disease of bone 11.2

Symptoms & Phenotypes for Paget Disease of Bone 4

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
deafness (in some patients)

Laboratory Abnormalities:
increased alkaline phosphatase

Skeletal:
increased and disorganized bone remodeling
mixed regions of osteosclerosis and osteolysis
abnormal uptake of radio-labelled bisphosphates in affected sites on bone scan
bone pain
deformity or enlargement of bones
more

Clinical features from OMIM:

606263

Human phenotypes related to Paget Disease of Bone 4:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 occasional (7.5%) HP:0000365
2 bone pain 32 HP:0002653
3 elevated alkaline phosphatase 32 HP:0003155

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:

41
Bone

Publications for Paget Disease of Bone 4

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 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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