Spondylometaphyseal Dysplasia Kozlowski Type malady

MalaCards: Spondylometaphyseal Dysplasia Kozlowski Type, is also known as smd kozlowski type. An important gene associated with Spondylometaphyseal Dysplasia Kozlowski Type is TRPV4 (transient receptor potential cation channel, subfamily V, member 4).

OMIM: 184252

spondylometaphyseal dysplasia kozlowski type 30 16 smd kozlowski type 30 16 dysmorphism arthrogryposis skeletal maturation advanced 30 spondylometaphyseal dysplasia, kozlowski type 33 skeletal dysplasia jequier-kozlowski type 30

jequier kozlowski skeletal dysplasia 30 jequier-kozlowski syndrome 30 strudwick syndrome 43 smdk 16

Clinical features from OMIM: 184252

Approved drugs:

Drug clinical trials:

Genetic tests related to spondylometaphyseal dysplasia kozlowski type:

id	Genetic test	Affiliating Genes
1	Spondylometaphyseal Dysplasia Kozlowski Type clinical/research	TRPV4

Articles related to spondylometaphyseal dysplasia kozlowski type:

id	Title	Authors	Year	Affiliating Genes
1	Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. (19232556)	Krakow D.... Cohn D.H.	2009	TRPV4

Genes related to spondylometaphyseal dysplasia kozlowski type according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	TRPV4	transient receptor potential cation channel, subfamily V, member 4	11.1	Publications, Disorders