Details of Disease | DrugMAP

General Information of Disease (ID: DISUS1OV)

Disease Name	Spondylometaphyseal dysplasia, Kozlowski type
Synonyms	SmD Kozlowski type; SMDK; SmD, Kozlowski type; Jequier-Kozlowski syndrome; Dysmorphism arthrogryposis skeletal maturation advanced; skeletal dysplasia Jequier-Kozlowski type; Jequier Kozlowski skeletal dysplasia; spondylometaphyseal dysplasia, Kozlowski type
Definition	Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.
Disease Hierarchy	DISDTAJK: Spondylometaphyseal dysplasia DISRJWLL: TRPV4-related bone disorder DISUS1OV: Spondylometaphyseal dysplasia, Kozlowski type
Disease Identifiers	MONDO ID MONDO_0008477 MESH ID C535797 UMLS CUI C0265280 OMIM ID 184252 MedGen ID 82698 Orphanet ID 93314 SNOMED CT ID 111304003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TRPV4	TTKP2SU	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TRPV4	OTPZKQLX	Definitive	Autosomal dominant	[1]
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References

1	Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet. 2009 Mar;84(3):307-15. doi: 10.1016/j.ajhg.2009.01.021. Epub 2009 Feb 19.