Details of Disease | DrugMAP

General Information of Disease (ID: DISVY45F)

Disease Name	Hyperphosphatasia with intellectual disability syndrome 6
Synonyms	glycosylphosphatidylinositol biosynthesis defect 12; HPMRS6; hyperphosphatasia with intellectual disability syndrome 6; PIGY hyperphosphatasia-intellectual disability syndrome; hyperphosphatasia with mental retardation syndrome type 6; hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY; hyperphosphatasia with mental retardation syndrome 6; hyperphosphatasia with intellectual disability syndrome 6; HPMRS6; hyperphosphatasia with intellectual disability syndrome type 6
Definition	Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene.
Disease Hierarchy	DISQJ9HK: Hyperphosphatasia-intellectual disability syndrome DISVY45F: Hyperphosphatasia with intellectual disability syndrome 6
Disease Identifiers	MONDO ID MONDO_0014780 UMLS CUI C4225201 OMIM ID 616809 MedGen ID 906509

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
PIGY	OTI3B2HB	Limited	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.