PDB4
MCID: PGT006
MIFTS: 18

Paget Disease of Bone 4 (PDB4)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic 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 58 13 74
Paget Disease of Bone, Type 4 41
Pdb4 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
paget disease of bone 4:
Inheritance autosomal dominant inheritance


Classifications:



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 cone-rod dystrophy and hearing loss 2, 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 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 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 paget's disease of bone 11.4
2 cone-rod dystrophy and hearing loss 2 11.1

Symptoms & Phenotypes for Paget Disease of Bone 4

Human phenotypes related to Paget Disease of Bone 4:

33
# Description HPO Frequency HPO Source Accession
1 hearing impairment 33 occasional (7.5%) HP:0000365
2 bone pain 33 HP:0002653
3 osteolysis 33 HP:0002797
4 elevated alkaline phosphatase 33 HP:0003155

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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