congenital disorder of glycosylation type IId

Summary
Synonym
  • CDG IId
  • CDG2D
  • CDGIId
Definition
A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1.
Super Class
autosomal recessive disease congenital disorder of glycosylation type II
External Links
Disease Ontology
DOID:0070256
Mondo Disease Ontology
MeSH
UMLS
ORDO
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2683 B4GALT1 beta-1,4-galactosyltransferase 1
11285 B4GALT7 beta-1,4-galactosyltransferase 7
Displaying 1 entry
Gene ID Gene Symbol Description Source
14595 B4galt1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24390 B4galt1 beta-1,4-galactosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
36585 beta4GalNAcTA beta1,4-N-acetylgalactosaminyltransferase A
Displaying all 2 entries
Gene ID Gene Symbol Description Source
550425 b4galt1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
768123 b4galt1l DP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, like
Displaying all 6 entries
Gene ID Gene Symbol Description Source Organism
549418 b4galt1.2 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 2 Xenopus tropicalis (tropical clawed frog)
100145518 b4galt1.1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 1 Xenopus tropicalis (tropical clawed frog)
108706812 b4galt1.1.S UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 1 S homeolog Xenopus laevis (African clawed frog)
108706813 b4galt1.2.S UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 2 S homeolog Xenopus laevis (African clawed frog)
108712215 b4galt1.1.L UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 1 L homeolog Xenopus laevis (African clawed frog)
108712216 b4galt1.2.L UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 2 L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
190668 bre-4 Beta-1,4-N-acetylgalactosaminyltransferase bre-4
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 21 - 30 of 42 in total
HPO ID HPO Term
HP:0005543 Reduced protein C activity
HP:0001321 Cerebellar hypoplasia
HP:0011003 High myopia
HP:0001892 Abnormal bleeding
HP:0000545 Myopia
HP:0003256 Abnormality of the coagulation cascade
HP:0012301 Type II transferrin isoform profile
HP:0001999 Abnormal facial shape
HP:0000969 Edema
HP:0003645 Prolonged partial thromboplastin time
Displaying 1 entry
Gene ID Gene Symbol Description
2683 B4GALT1 beta-1,4-galactosyltransferase 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