Details of Disease

General Information of Disease (ID: DISN934M)

• Disease Name: Hyperphosphatasia with intellectual disability syndrome 3
• Synonyms: HPMRS3; glycosylphosphatidylinositol biosynthesis defect 8; mental retardation, autosomal recessive 21; mental retardation, autosomal recessive 17; intellectual disability, autosomal recessive 17; intellectual disability, autosomal recessive 21; hyperphosphatasia with intellectual disability syndrome 3; hyperphosphatasia with mental retardation syndrome 3; hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2; hyperphosphatasia with intellectual disability syndrome type 3; hyperphosphatasia with mental retardation syndrome type 3; PGAP2 hyperphosphatasia-intellectual disability syndrome
• Definition: Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.
• Disease Hierarchy:
  DISQJ9HK: Hyperphosphatasia-intellectual disability syndrome
  DISN934M: Hyperphosphatasia with intellectual disability syndrome 3
• Disease Identifiers:
  MONDO ID: MONDO_0013628
  UMLS CUI: C3280153
  OMIM ID: 614207
  MedGen ID: 481783

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
PGAP2	OTUW3SAX	Strong	Autosomal recessive	[1]

References

• [1] Late transcription and simultaneous replication of simian adenovirus 7 DNA as revealed by spreading lytically infected cell cultures. J Gen Virol. 1979 Mar;42(3):443-56. doi: 10.1099/0022-1317-42-3-443.