Progressive Pseudorheumatoid Dysplasia (PPRD)

Alias:
Progressive Pseudorheumatoid Arthropathy of Childhood
Spondyloepiphyseal Dysplasia Tarda-Progressive Arthropathy Syndrome
Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy
Arthropathy, Progressive Pseudorheumatoid, of Childhood
Sedt-Pa
Pprd
Ppac
Ppd
Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy;
Dysplasia, Pseudorheumatoid, Progressive
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Progressive Pseudorheumatoid Dysplasia, also known as progressive pseudorheumatoid arthropathy of childhood, is related to scoliosis and czech dysplasia. An important gene associated with Progressive Pseudorheumatoid Dysplasia is CCN6 (Cellular Communication Network Factor 6), and among its related pathways/superpathways are Development Endothelin-1/EDNRA transactivation of EGFR and Immune response Antigen presentation by MHC class II. Affiliated tissues include bone and skeletal muscle, and related phenotypes are waddling gait and joint swelling
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
6
47
35

Medical Symptom

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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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