Details of Disease

General Information of Disease (ID: DISGGOYI)

• Disease Name: Intellectual disability, autosomal recessive 53
• Synonyms: intellectual disability, autosomal recessive type 53; intellectual developmental disorder, autosomal recessive 53; intellectual disability, autosomal recessive 53; MRT53; GPIBD13; congenital disorder of glycosylation due to PIGG deficiency; PIGG-CDG; early-onset epilepsy-intellectual disability-brain anomalies syndrome; mental retardation, autosomal recessive 53; mental retardation, autosomal recessive type 53; glycosylphosphatidylinositol biosynthesis defect 13
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISH7SDF: Syndromic intellectual disability
  DISPGGVL: Syndromic dyslipidemia
  DISD715V: Hereditary neurological disease
  DISOXMGQ: Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
  DISGGOYI: Intellectual disability, autosomal recessive 53
• Disease Identifiers:
  MONDO ID: MONDO_0014832
  UMLS CUI: C4310794
  OMIM ID: 616917
  MedGen ID: 934761
  Orphanet ID: 488635

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
PIGG	OTO10SVP	Strong	Autosomal recessive	[1]

References

• [1] Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. Am J Hum Genet. 2016 Apr 7;98(4):615-26. doi: 10.1016/j.ajhg.2016.02.007. Epub 2016 Mar 17.