congenital disorder of glycosylation Ir

Summary
Synonym
  • congenital disorder of glycosylation 1r
Definition
A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36.
Super Class
autosomal recessive disease congenital disorder of glycosylation type I
External Links
Disease Ontology
DOID:0080569
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1650 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
31849 Ost48 Oligosaccharyltransferase 48kD subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
856716 WBP1 dolichyl-diphosphooligosaccharide-protein glycotransferase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 29 in total
HPO ID HPO Term
HP:0001397 Hepatic steatosis
HP:0003642 Type I transferrin isoform profile
HP:0000958 Dry skin
HP:0009125 Lipodystrophy
HP:0002167 Abnormality of speech or vocalization
HP:0000832 Primary hypothyroidism
HP:0005616 Accelerated skeletal maturation
HP:0002019 Constipation
HP:0012758 Neurodevelopmental delay
HP:0001290 Generalized hypotonia
Displaying 1 entry
Gene ID Gene Symbol Description
1650 DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024