Achondroplasia (ACH)

Achondroplasia(来自ICD-11)
别称:
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
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相关ID:
MESH:D000130
ICD11:24224082

基础信息

遗传方式
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患病率/发病率
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参考文献
MALACARDS
AD
Newborn
6-9/10000
24
354
228

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MGI
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