Details of Disease

General Information of Disease (ID: DISBUTBG)

Disease Name Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Synonyms
spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures; SEMDJL; spondyloepimetaphyseal dysplasia with joint laxity, Beighton type; spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6; spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures; SEMDJL1; B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity
Definition Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.
Disease Hierarchy
DIS94DW9: Spondyloepimetaphyseal dysplasia with joint laxity
DISBUTBG: Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Disease Identifiers
MONDO ID
MONDO_0010075
UMLS CUI
C4017377
OMIM ID
271640
MedGen ID
865814

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
B3GALT6 OTF4HBAT Definitive Autosomal recessive [1]
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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.