Details of Disease

General Information of Disease (ID: DISMTMWO)

• Disease Name: Developmental and epileptic encephalopathy, 50
• Synonyms: congenital disorder of glycosylation, type Iz, formerly; congenital disorder of glycosylation, type Iz; developmental and epileptic encephalopathy 50; congenital disorder of glycosylation type 1z; CAD-CDG; CDG syndrome type Iz; CDG-Iz; carbohydrate deficient glycoprotein syndrome type Iz; EIEE50; DEE50; epileptic encephalopathy, early infantile, 50; CDG1Z
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DIS2T2XO: Inborn disorder of pyrimidine metabolism
  DISO85MT: Disorder of multiple glycosylation
  DISBHHT1: Congenital disorder of glycosylation type I
  DISZOCA3: Epileptic encephalopathy
  DISMTMWO: Developmental and epileptic encephalopathy, 50
• Disease Identifiers:
  MONDO ID: MONDO_0014647
  UMLS CUI: C4225320
  OMIM ID: 616457
  MedGen ID: 904125
  Orphanet ID: 448010
  SNOMED CT ID: 1237417007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CAD	TT2YT1K	Limited	Biomarker	[1]
CAD	TT2YT1K	Definitive	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CAD	OTNCUYYE	Definitive	Autosomal recessive	[2]

References

• [1] Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.Mol Cell Probes. 2019 Jun;45:84-88. doi: 10.1016/j.mcp.2019.03.006. Epub 2019 Mar 23.
• [2] 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.