Details of Disease

General Information of Disease (ID: DISBNIZ6)

Disease Name Spondyloepimetaphyseal dysplasia with multiple dislocations
Synonyms
spondyloepimetaphyseal dysplasia with Joint laxity, leptodactylic type; spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type; spondyloepimetaphyseal dysplasia with JOINT laxity, type 2; spondyloepimetaphyseal dysplasia with Joint laxity, Hall type; spondyloepimetaphyseal dysplasia with Joint laxity, type 2; spondyloepimetaphyseal dysplasia with JOINT laxity type 2; spondyloepimetaphyseal dysplasia with multiple dislocations Hall type; SEMDJL2; spondyloepimetaphyseal dysplasia with joint laxity type 2; SEMD-MD; spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type; spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
Definition A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.
Disease Hierarchy
DIS94DW9: Spondyloepimetaphyseal dysplasia with joint laxity
DIS3HIWD: Autosomal dominant disease
DISBNIZ6: Spondyloepimetaphyseal dysplasia with multiple dislocations
Disease Identifiers
MONDO ID
MONDO_0011335
MESH ID
C535784
UMLS CUI
C1863732
OMIM ID
603546
MedGen ID
350960
Orphanet ID
93360
SNOMED CT ID
766820007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NIN OTVH3M4Z Strong Genetic Variation [1]
KIF22 OTY6X6BL Definitive Autosomal dominant [2]
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References

1 Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.Matrix Biol. 2013 Oct-Nov;32(7-8):387-92. doi: 10.1016/j.matbio.2013.05.001. Epub 2013 May 9.
2 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.