Details of Disease

General Information of Disease (ID: DISX0K44)

• Disease Name: Hyperphosphatasia with intellectual disability syndrome 4
• Synonyms: HPMRS4; glycosylphosphatidylinositol biosynthesis defect 10; PGAP3 hyperphosphatasia-intellectual disability syndrome; hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3; hyperphosphatasia with mental retardation syndrome type 4; hyperphosphatasia with intellectual disability syndrome type 4; hyperphosphatasia with intellectual disability syndrome 4; hyperphosphatasia with mental retardation syndrome 4
• Definition: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP3 gene.
• Disease Hierarchy:
  DISQJ9HK: Hyperphosphatasia-intellectual disability syndrome
  DISX0K44: Hyperphosphatasia with intellectual disability syndrome 4
• Disease Identifiers:
  MONDO ID: MONDO_0014318
  UMLS CUI: C3810354
  OMIM ID: 615716
  MedGen ID: 816684

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PGAP3	OTH9A75E	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.