Details of Disease

General Information of Disease (ID: DISG4MY5)

• Disease Name: Developmental and epileptic encephalopathy, 36
• Synonyms: congenital disorder of glycosylation, type Is; CDG Is; CDG1S; EIEE36; CDG syndrome type Is; developmental and epileptic encephalopathy 36; ALG13-CDG; congenital disorder of glycosylation type 1s; CDG-Is; epileptic encephalopathy, early infantile, 36; congenital disorder of glycosylation type Is; DEE36
• Disease Hierarchy:
  DIS2BIP8: Congenital nervous system disorder
  DISBHHT1: Congenital disorder of glycosylation type I
  DISZOCA3: Epileptic encephalopathy
  DIST8BQR: Disorder of protein N-glycosylation
  DISG4MY5: Developmental and epileptic encephalopathy, 36
• Disease Identifiers:
  MONDO ID: MONDO_0010472
  UMLS CUI: C4317295
  OMIM ID: 300884
  MedGen ID: 1382656
  Orphanet ID: 324422
  SNOMED CT ID: 733451007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ST3GAL5	TTVF2BJ	Strong	Biomarker	[1]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PMM2	DEBRX3L	Strong	Biomarker	[2]

This Disease Is Related to 13 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALG12	OTVAT4OJ	Strong	Biomarker	[3]
ALG13	OTOH9PMY	Strong	X-linked	[4]
ALG3	OTPOL1QW	Strong	Biomarker	[5]
ALG8	OTMFG2YY	Strong	Biomarker	[6]
COG6	OTDLQITC	Strong	Biomarker	[7]
COG8	OTDEA7YO	Strong	Biomarker	[8]
DPAGT1	OTYEJAGZ	Strong	Biomarker	[9]
EXT2	OT8IR5QN	Strong	Genetic Variation	[10]
GYPB	OTESHUIX	Strong	Biomarker	[11]
GYPE	OTBHAG6A	Strong	Biomarker	[11]
MPI	OTBH6ZK1	Strong	Biomarker	[12]
RFT1	OTW82NET	Strong	Biomarker	[13]
TMEM199	OTU1GZOY	Strong	Biomarker	[14]

References

• [1] Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation.Glycobiology. 2019 Mar 1;29(3):229-241. doi: 10.1093/glycob/cwy112.
• [2] Hypolipidaemia among patients with PMM2-CDG is associated with low circulating PCSK9 levels: a case report followed by observational and experimental studies.J Med Genet. 2020 Jan;57(1):11-17. doi: 10.1136/jmedgenet-2019-106102. Epub 2019 Aug 7.
• [3] ALG12-CDG: novel glycophenotype insights endorse the molecular defect.Glycoconj J. 2019 Dec;36(6):461-472. doi: 10.1007/s10719-019-09890-2. Epub 2019 Sep 16.
• [4] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
• [5] Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus. Hum Mutat. 2019 Jul;40(7):938-951. doi: 10.1002/humu.23764. Epub 2019 May 8.
• [6] Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.Pediatr Res. 2019 Feb;85(3):384-389. doi: 10.1038/s41390-018-0231-5. Epub 2018 Nov 12.
• [7] Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).Eur J Med Genet. 2019 Jan;62(1):44-46. doi: 10.1016/j.ejmg.2018.04.017. Epub 2018 Apr 28.
• [8] The first case of antenatal presentation in COG8-congenital disorder of glycosylation with a novel splice site mutation and an extended phenotype.Am J Med Genet A. 2019 Mar;179(3):480-485. doi: 10.1002/ajmg.a.61030. Epub 2019 Jan 28.
• [9] A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.Eur J Hum Genet. 2013 Aug;21(8):844-9. doi: 10.1038/ejhg.2012.257. Epub 2012 Dec 19.
• [10] A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.Sci Rep. 2014 Sep 18;4:6407. doi: 10.1038/srep06407.
• [11] Band 3 glycoprotein and glycophorin A from erythrocytes of children with congenital disorder of glycosylation type-Ia are underglycosylated.Proteomics. 2001 Feb;1(2):269-74. doi: 10.1002/1615-9861(200102)1:2<269::AID-PROT269>3.0.CO;2-8.
• [12] Seizures and stupor during intravenous mannose therapy in a patient with CDG syndrome type 1b (MPI-CDG).J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S497-502. doi: 10.1007/s10545-010-9252-x. Epub 2011 Jan 16.
• [13] A family with floppy neonates with severe respiratory insufficiency: A lethal phenotype of RFT1-CDG due to a novel mutation.Eur J Med Genet. 2019 Apr;62(4):248-253. doi: 10.1016/j.ejmg.2018.07.023. Epub 2018 Jul 31.
• [14] Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation.Orphanet J Rare Dis. 2018 Jan 10;13(1):4. doi: 10.1186/s13023-017-0757-3.