Details of Disease | DrugMAP

General Information of Disease (ID: DIS6WJOV)

Disease Name	Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Synonyms	IDDMSSD; INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
Disease Hierarchy	DISYKSRF: Genetic disease DIS6WJOV: Intellectual developmental disorder with macrocephaly, seizures, and speech delay
Disease Identifiers	MONDO ID MONDO_0032568 UMLS CUI C4748428 OMIM ID 618158 MedGen ID 1648339

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PAK1	TTFN95D	Strong	Autosomal dominant	[1]
PAK1	TTFN95D	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PAK1	OT17LZNZ	Strong	Autosomal dominant	[1]
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References

1	Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2018 Oct 4;103(4):579-591. doi: 10.1016/j.ajhg.2018.09.005.
2	De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.Brain. 2019 Nov 1;142(11):3351-3359. doi: 10.1093/brain/awz264.