Details of Disease

General Information of Disease (ID: DISPNER0)

• Disease Name: Multiple congenital anomalies-hypotonia-seizures syndrome 3
• Synonyms: MCAHS3; glycosylphosphatidylinositol biosynthesis defect 7; M syndrome; intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome; PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability; LFSS; PIGT-CDG; multiple congenital anomalies-hypotonia-seizures syndrome 3; light fixation seizure syndrome; MCAHS type 3; multiple congenital anomalies-hypotonia-seizures syndrome type 3; congenital disorder of glycosylation due to PIGT deficiency; multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT
• Definition: A rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.
• Disease Hierarchy:
  DIS37ALI: Multiple congenital anomalies-hypotonia-seizures syndrome
  DISMFQKM: Developmental anomaly of metabolic origin
  DIS5PU87: Skeletal system disorder
  DISOXMGQ: Inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
  DISPNER0: Multiple congenital anomalies-hypotonia-seizures syndrome 3
• Disease Identifiers:
  MONDO ID: MONDO_0014165
  UMLS CUI: C3809356
  OMIM ID: 615398
  MedGen ID: 815686
  Orphanet ID: 369837

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
PIGT	OTWA8819	Definitive	Autosomal recessive	[1]

References

• [1] A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. J Med Genet. 2013 Aug;50(8):521-8. doi: 10.1136/jmedgenet-2013-101654. Epub 2013 May 1.