Details of Disease

General Information of Disease (ID: DIS93B6B)

• Disease Name: Multiple congenital anomalies-hypotonia-seizures syndrome 2
• Synonyms: MCAHS type 2; PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability; GPIBD4; multiple congenital anomalies-hypotonia-seizures syndrome 2; developmental and epileptic encephalopathy 20; epileptic encephalopathy, early infantile, 20; multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive; glycosylphosphatidylinositol biosynthesis defect 4; multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA; MCAHS2; DEE20; multiple congenital anomalies-hypotonia-seizures syndrome type 2
• Definition: Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.
• Disease Hierarchy:
  DIS37ALI: Multiple congenital anomalies-hypotonia-seizures syndrome
  DIS2BIP8: Congenital nervous system disorder
  DISPGGVL: Syndromic dyslipidemia
  DISMFQKM: Developmental anomaly of metabolic origin
  DISZOCA3: Epileptic encephalopathy
  DISOXMGQ: Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
  DIS93B6B: Multiple congenital anomalies-hypotonia-seizures syndrome 2
• Disease Identifiers:
  MONDO ID: MONDO_0010466
  UMLS CUI: C3275508
  OMIM ID: 300868
  MedGen ID: 477139
  Orphanet ID: 300496

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
PIGA	OT51UWUR	Definitive	X-linked recessive	[1]

References

• [1] The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet. 2012 Feb 10;90(2):295-300. doi: 10.1016/j.ajhg.2011.11.031. Epub 2012 Feb 2.