Osteochondrodysplasia

Osteochondrodysplasia(来自ICD-11)

别称:

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Mucopolysaccharidosis Iv

Dysplasia, Skeletal

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Osteochondrodysplasia, also known as skeletal dysplasia, is related to eiken syndrome and primary bone dysplasia. An important gene associated with Osteochondrodysplasia is GALNS (Galactosamine (N-Acetyl)-6-Sulfatase), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Extracellular matrix organization. The drugs Valproic acid and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are macrocephaly and brachydactyly

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