Achondroplasia (ACH)

Alias:
Achondroplastic Dwarfism
Ach
Osteosclerosis Congenita
Achondroplastic Short Stature
Fgfr3-Related Achondroplasia
Congenital Osteosclerosis
Achondroplastic Physique
Dwarf, Achondroplastic
Chondrodystrophia
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Achondroplasia, also known as achondroplastic dwarfism, is related to achondroplasia, severe, with developmental delay and acanthosis nigricans and hypochondroplasia. An important gene associated with Achondroplasia is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Hormones and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include bone and spinal cord, and related phenotypes are kyphosis and limb undergrowth
Related ID:
MESH:D000130
ICD11:24224082

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Newborn
6-9/10000
24
356
228

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!
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