glucose transporter type 1 deficiency syndrome 2

Summary

DOID:0090045 - glucose transporter type 1 deficiency syndrome 2

Disease Ontology Definition:A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34.

Synonyms: childhood-onset GLUT1 deficiency syndrome 2, dystonia 18, DYT18, GLUT1 deficiency syndrome 2, GLUT1DS2, paroxysmal exercise-induced dyskinesia, paroxysmal exertion-induced dyskinesia, PED

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: slc2a1, prrt2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012805 - childhood onset GLUT1 deficiency syndrome 2

MONDO:0012805 - childhood onset GLUT1 deficiency syndrome 2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), dystonia (is_a), glucose transporter type 1 deficiency syndrome (is_a)