Hypochondroplasia (HCH)

Alias:
Hch
Hypochondroplastic Short Stature
Hypochondroplastic Dwarfism
Chondrogenesis Imperfecta
Hypochondrodysplasia
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypochondroplasia, also known as hch, is related to achondrogenesis, type ii and crouzon syndrome with acanthosis nigricans. An important gene associated with Hypochondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Signal Transduction and RAF/MAP kinase cascade. The drugs Hormone Antagonists and Hormones have been mentioned in the context of this disorder. Affiliated tissues include bone and temporal lobe, and related phenotypes are skeletal dysplasia and abnormal form of the vertebral bodies
Related ID:
MESH:C562937
ICD11:1930265486

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Antenatal
1-9/100000
16
266
85

Medical Symptom

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

Gene & Mutation

#
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!
Wechat
Comparison
Al agent
Tutorials
Back to top