Details of Disease | DrugMAP

General Information of Disease (ID: DIST5EI1)

Disease Name	Hyperphosphatasia with intellectual disability syndrome 5
Synonyms	GPIBD11; HPMRS5; glycosylphosphatidylinositol biosynthesis defect 11; hyperphosphatasia with intellectual disability syndrome 5; hyperphosphatasia with intellectual disability syndrome type 5; hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW; hyperphosphatasia with mental retardation syndrome type 5; hyperphosphatasia with mental retardation syndrome 5; PIGW hyperphosphatasia-intellectual disability syndrome
Definition	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene.
Disease Hierarchy	DISQJ9HK: Hyperphosphatasia-intellectual disability syndrome DIST5EI1: Hyperphosphatasia with intellectual disability syndrome 5
Disease Identifiers	MONDO ID MONDO_0014457 UMLS CUI C4014958 OMIM ID 616025 MedGen ID 863395

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
PIGW	OTT9SMTF	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. J Med Genet. 2014 Mar;51(3):203-7. doi: 10.1136/jmedgenet-2013-102156. Epub 2013 Dec 23.