Paget Disease of Bone 5, Juvenile-Onset (PDB5)

Alias:
Juvenile Paget Disease
Hyperostosis Corticalis Deformans Juvenilis
Hyperphosphatasemia with Bone Disease
Hereditary Hyperphosphatasia
Familial Osteoectasia
Jpd
Hyperphosphatasia, Familial Idiopathic
Paget Disease, Juvenile
Osteoectasia, Familial
Pdb5
Jpg
Hyperphosphatasemia, Chronic Congenital Idiopathic
Chronic Congenital Idiopathic Hyperphosphatasemia
Chronic Congenital Idiopathic Hyperphosphatasia
Paget Disease of Bone, Type 5, Juvenile-Onset
Familial Idiopathic Hyperphosphatasemia
Osteoectasia with Hyperphosphatasia
Osteochalasia Desmalis Familiaris
Idiopathic Hyperphosphatasia
Paget Disease Juvenile Type
Juvenile Osteitis Deformans
Juvenile Paget's Disease
Osteoectasia Familial
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Paget Disease of Bone 5, Juvenile-Onset, also known as juvenile paget disease, is related to paget's disease of bone and secondary hyperparathyroidism. An important gene associated with Paget Disease of Bone 5, Juvenile-Onset is TNFRSF11B (TNF Receptor Superfamily Member 11b), and among its related pathways/superpathways are Cytokine Signaling in Immune system and TNFR1 Pathway. Affiliated tissues include bone, and related phenotypes are macrocephaly and bowing of the long bones
Related ID:
MESH:D010001
ICD11:762002965

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
4
53
22

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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