Details of Disease | DrugMAP

General Information of Disease (ID: DIS94DW9)

Disease Name	Spondyloepimetaphyseal dysplasia with joint laxity
Synonyms	spondyloepimetaphyseal dysplasia joint laxity; spondyloepimetaphyseal dysplasia with joint laxity, Beighton type; SEMDJL1; spondyloepimetaphyseal dysplasia with joint laxity type 1; spondyloepimetaphyseal dysplasia with joint laxity; SEMD-JL; SEMDJL
Definition	A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment.
Disease Hierarchy	DISO4L5A: Spondyloepimetaphyseal dysplasia DIS94DW9: Spondyloepimetaphyseal dysplasia with joint laxity
Disease Identifiers	MONDO ID MONDO_0019675 MESH ID C562968 UMLS CUI C0432243 MedGen ID 98148 Orphanet ID 93359 SNOMED CT ID 254100000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
B3GALT6	OTF4HBAT	Supportive	Autosomal recessive	[1]
EXOC6B	OTFI1IPG	Supportive	Autosomal recessive	[2]
KIF22	OTY6X6BL	Strong	Genetic Variation	[3]
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References

1	Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet. 2013 Jun 6;92(6):927-34. doi: 10.1016/j.ajhg.2013.04.003. Epub 2013 May 9.
2	A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. Eur J Hum Genet. 2016 Aug;24(8):1206-10. doi: 10.1038/ejhg.2015.261. Epub 2015 Dec 16.
3	Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet. 2011 Dec 9;89(6):767-72. doi: 10.1016/j.ajhg.2011.10.016.