Details of Disease | DrugMAP

General Information of Disease (ID: DIS0C1VP)

Disease Name	Parastremmatic dwarfism
Synonyms	Parastremmatic dysplasia; parastremmatic dwarfism
Definition	Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.
Disease Hierarchy	DISOZHVP: Bent bone dysplasia DISRJWLL: TRPV4-related bone disorder DIS0C1VP: Parastremmatic dwarfism
Disease Identifiers	MONDO ID MONDO_0008196 MESH ID C537172 UMLS CUI C1868616 OMIM ID 168400 MedGen ID 358366 Orphanet ID 2646 SNOMED CT ID 722210007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TRPV4	TTKP2SU	Limited	Genetic Variation	[1]
TRPV4	TTKP2SU	Supportive	Autosomal dominant	[2]
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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	Supportive	Autosomal dominant	[2]
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References

1	Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.Exp Mol Med. 2012 Dec 31;44(12):707-22. doi: 10.3858/emm.2012.44.12.080.
2	Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet A. 2010 Jun;152A(6):1443-9. doi: 10.1002/ajmg.a.33414.