Details of Disease | DrugMAP

General Information of Disease (ID: DISICS2R)

Disease Name	Hyperphosphatasia with intellectual disability syndrome 1
Synonyms	glycosylphosphatidylinositol biosynthesis defect 2; HPMRS1; Mabry syndrome; hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV; hyperphosphatasia with intellectual disability syndrome type 1; hyperphosphatasia with mental retardation syndrome type 1; hyperphosphatasia with intellectual disability syndrome 1; hyperphosphatasia with mental retardation syndrome 1; PIGV hyperphosphatasia-intellectual disability syndrome
Definition	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene.
Disease Hierarchy	DISQJ9HK: Hyperphosphatasia-intellectual disability syndrome DISICS2R: Hyperphosphatasia with intellectual disability syndrome 1
Disease Identifiers	MONDO ID MONDO_0009398 UMLS CUI C4551502 OMIM ID 239300 MedGen ID 1647044

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
PIGV	OTI6LT46	Definitive	Autosomal recessive	[1]
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References

1	Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat Genet. 2010 Oct;42(10):827-9. doi: 10.1038/ng.653. Epub 2010 Aug 29.