Details of Disease | DrugMAP

General Information of Disease (ID: DIS75NY9)

Disease Name	Hyperphosphatasia with intellectual disability syndrome 2
Synonyms	glycosylphosphatidylinositol biosynthesis defect 6; HPMRS2; hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO; hyperphosphatasia with mental retardation syndrome 2; PIGO hyperphosphatasia-intellectual disability syndrome; hyperphosphatasia with intellectual disability syndrome 2; hyperphosphatasia with mental retardation syndrome type 2; hyperphosphatasia with intellectual disability syndrome type 2
Definition	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.
Disease Hierarchy	DISQJ9HK: Hyperphosphatasia-intellectual disability syndrome DIS75NY9: Hyperphosphatasia with intellectual disability syndrome 2
Disease Identifiers	MONDO ID MONDO_0013882 UMLS CUI C3553637 OMIM ID 614749 MedGen ID 766551

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
PIGO	OTGDOBO1	Definitive	Autosomal recessive	[1]
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References

1	Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. Am J Hum Genet. 2012 Jul 13;91(1):146-51. doi: 10.1016/j.ajhg.2012.05.004. Epub 2012 Jun 7.