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341. TRPV4 deficiency Disease details / Clinical trials / Drug dev / DR info /

Clinical trial : 0 / Drug : 0 - (DrugBank : 0) / Drug target gene : 0 - Drug target pathway : 0

Other names	Metatropic dysplasia;Spondyloepimetaphyseal dysplasia, Maroteaux type;Pseudo-Morquio syndrome type 2;Spondylometaphyseal dysplasia, Kozlowski type;Brachyolmia, autosomal dominant type;Familial digital arthropathy with brachydactyly;Familial digital arthropathy-brachydactyly;
Disease group	Bone and joint diseases
Domestic patients Med expenses recipients (FY2023)	-
Related info (in Japanese)	-
Clinical research form [April 1, 2025 ~] (in Japanese)	Overview, diagnostic criteria, etc. (pdf), Clinical research form (pdf)
Specific pediatric chronic diseases, Japan (in Japanese)	15-2-15. Transient receptor potential cation channel, vanilloid subfamily, member 4 (TRPV4) -associated disorders
Subtypes	-