congenital disorder of glycosylation Ij

Summary
Synonym
  • Congenital disorder of glycosylation 1j
Definition
A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23.
Super Class
autosomal recessive disease congenital disorder of glycosylation type I
External Links
Disease Ontology
DOID:0080562
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
13478 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
300668 Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
34711 Alg7 Alg7 dolichyl-phosphate N-acetylglucosaminephosphotransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
566539 dpagt1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100487779 dpagt1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) Xenopus tropicalis (tropical clawed frog)
108696438 dpagt1.L dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
190436 algn-7 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
852545 ALG7 UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 84 in total
HPO ID HPO Term
HP:0000252 Microcephaly
HP:0000365 Hearing impairment
HP:0000483 Astigmatism
HP:0000486 Strabismus
HP:0000510 Rod-cone dystrophy
HP:0000519 Developmental cataract
HP:0000577 Exotropia
HP:0000639 Nystagmus
HP:0000648 Optic atrophy
HP:0000662 Nyctalopia
Displaying 1 entry
Gene ID Gene Symbol Description
1798 DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

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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