Chondrodysplasia Punctata Syndrome (CDP)

Alias:
Chondrodysplasia Punctata
Chondrodysplasia Punctata Congenita
Cdp
Chondrodysplasia Punctata, X-Linked Dominant Type
Chondrodysplasia Punctata, Toriello Type
Chondrodysplasia Punctata Group
Toriello-Higgins-Miller Syndrome
Dysplasia Epiphysealis Punctata
Dysplasia Punctata Epiphysis
Chondrodystrophy of Punctata
Dysplasia Punctata
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Chondrodysplasia Punctata Syndrome, also known as chondrodysplasia punctata, is related to x-linked chondrodysplasia punctata 1 and x-linked chondrodysplasia punctata 2, and has symptoms including edema An important gene associated with Chondrodysplasia Punctata Syndrome is EBP (EBP Cholestenol Delta-Isomerase), and among its related pathways/superpathways are Metabolism and Peroxisomal lipid metabolism. The drugs Glycerin and Coconut have been mentioned in the context of this disorder. Affiliated tissues include bone and spinal cord, and related phenotypes are growth/size/body region and mortality/aging
Related ID:
MESH:D002806
ICD11:1923035846

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
26
106
2

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

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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