Details of Disease | DrugMAP

General Information of Disease (ID: DIS990VP)

Disease Name	Fried syndrome
Definition	A rare X-linked syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.
Disease Hierarchy	DISG1YOH: X-linked syndromic intellectual disability DIS990VP: Fried syndrome
Disease Identifiers	MONDO ID MONDO_0019428 UMLS CUI C4305134 MedGen ID 930803 Orphanet ID 85335 SNOMED CT ID 718848000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AP1S2	OTZHJFYI	Supportive	X-linked	[1]
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References

1	Mutations in the AP1S2 gene encoding the sigma 2 subunit of the adaptor protein 1 complex are associated with syndromic X-linked mental retardation with hydrocephalus and calcifications in basal ganglia. J Med Genet. 2007 Nov;44(11):739-44. doi: 10.1136/jmg.2007.051334. Epub 2007 Jul 6.