developmental and epileptic encephalopathy 36

Summary
Synonym
  • congenital disorder of glycosylation, type Is
  • early infantile epileptic encephalopathy 36
Definition
A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23.
Super Class
X-linked dominant disease developmental and epileptic encephalopathy
External Links
Disease Ontology
DOID:0080470
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying entries 1 - 10 of 15 in total
Gene ID Gene Symbol Description Source
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
2132 EXT2 exostosin glycosyltransferase 2
3383 ICAM1 intercellular adhesion molecule 1
4351 MPI mannose phosphate isomerase
5373 PMM2 phosphomannomutase 2
7355 SLC35A2 solute carrier family 35 member A2
8869 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
10195 ALG3 ALG3 alpha-1,3- mannosyltransferase
57511 COG6 component of oligomeric golgi complex 6
79053 ALG8 ALG8 alpha-1,3-glucosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
67574 Alg13 asparagine-linked glycosylation 13
Displaying 1 entry
Gene ID Gene Symbol Description Source
300284 Alg13l1 ALG13, UDP-N-acetylglucosaminyltransferase subunit like 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
557181 alg13 ALG13 UDP-N-acetylglucosaminyltransferase subunit
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
549862 alg13l ALG13, UDP-N-acetylglucosaminyltransferase subunit-like Xenopus tropicalis (tropical clawed frog)
108698403 alg13.L ALG13 UDP-N-acetylglucosaminyltransferase subunit L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
179890 algn-13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
852835 ALG13 N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase catalytic subunit ALG13
The Human Phenotype Ontology
Displaying entries 31 - 40 of 48 in total
HPO ID HPO Term
HP:0000238 Hydrocephalus
HP:0002188 Delayed CNS myelination
HP:0000308 Microretrognathia
HP:0003645 Prolonged partial thromboplastin time
HP:0001250 Seizure
HP:0011968 Feeding difficulties
HP:0001417 X-linked inheritance
HP:0000648 Optic atrophy
HP:0002650 Scoliosis
HP:0200055 Small hand
Displaying 1 entry
Gene ID Gene Symbol Description
79868 ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024