Details of Disease | DrugMAP

General Information of Disease (ID: DIS85278)

Disease Name	Infantile-onset generalized dyskinesia with orofacial involvement
Synonyms	IOLOD; infantile-onset orofacial-trunk-limbs dyskinesia; dyskinesia, limb and orofacial, infantile-onset
Disease Hierarchy	DISICOLI: Focal, segmental or multifocal dystonia DIS85278: Infantile-onset generalized dyskinesia with orofacial involvement
Disease Identifiers	MONDO ID MONDO_0044637 UMLS CUI C5567464 OMIM ID 616921 MedGen ID 1798887 Orphanet ID 494526 SNOMED CT ID 1172603005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PDE10A	TTJW4LU	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDE10A	OT74EK7Z	Strong	Autosomal recessive	[1]
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References

1	Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. Am J Hum Genet. 2016 Apr 7;98(4):735-43. doi: 10.1016/j.ajhg.2016.03.015.