Chondrodysplasia with Joint Dislocations, Gpapp Type (CDP-GPAPP)

Alias:
Gpapp Deficiency
Chondrodysplasia with Joint Dislocations Gpapp Type
Chondrodysplasia, with Joint Dislocations, Gpapp Type
Cdp-Gpapp
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chondrodysplasia with Joint Dislocations, Gpapp Type, also known as gpapp deficiency, is related to cleft palate, isolated and ehlers-danlos syndrome, spondylodysplastic type, 1. An important gene associated with Chondrodysplasia with Joint Dislocations, Gpapp Type is BPNT2 (3'(2'), 5'-Bisphosphate Nucleotidase 2), and among its related pathways/superpathways are Metapathway biotransformation Phase I and II and Cytosolic sulfonation of small molecules. Affiliated tissues include bone, and related phenotypes are cleft palate and micrognathia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
4
20
3

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

Name
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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