Details of Disease

General Information of Disease (ID: DISDQTL8)

• Disease Name: Multiple congenital anomalies-hypotonia-seizures syndrome 1
• Synonyms: MCAHS1; multiple congenital anomalies - hypotonia - seizures syndrome; multiple congenital anomalies-hypotonia-seizures syndrome; glycosylphosphatidylinositol biosynthesis defect 3; PIGN-related inherited GPI deficiency; PIGN-CDG; PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability; multiple congenital anomalies-hypotonia-seizures syndrome type 1; congenital disorder of glycosylation due to PIGN deficiency; multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN; inherited GPI anchor-deficiency; multiple congenital anomalies-hypotonia-seizures syndrome 1
• Definition: Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.
• Disease Hierarchy:
  DIS37ALI: Multiple congenital anomalies-hypotonia-seizures syndrome
  DISMFQKM: Developmental anomaly of metabolic origin
  DISOXMGQ: Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
  DISDQTL8: Multiple congenital anomalies-hypotonia-seizures syndrome 1
• Disease Identifiers:
  MONDO ID: MONDO_0013563
  UMLS CUI: C3279775
  OMIM ID: 614080
  MedGen ID: 481405
  Orphanet ID: 280633

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
PIGN	OTHHTJKX	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.