Details of Disease | DrugMAP

General Information of Disease (ID: DISDAAFG)

Disease Name	Intellectual developmental disorder with paroxysmal dyskinesia or seizures
Synonyms	IDDPADS
Disease Hierarchy	DISYKSRF: Genetic disease DISDAAFG: Intellectual developmental disorder with paroxysmal dyskinesia or seizures
Disease Identifiers	MONDO ID MONDO_0030900 UMLS CUI C5436894 OMIM ID 619150 MedGen ID 1727046

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
PDE2A	TTJGW1Z	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
PDE2A	OTZESF4H	Strong	Autosomal recessive	[1]
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References

1	A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea. Mov Disord. 2018 Mar;33(3):482-488. doi: 10.1002/mds.27286. Epub 2018 Feb 2.