congenital disorder of glycosylation Id

Summary
Synonym
  • congenital disorder of glycosylation 1d
Definition
A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27.
Super Class
autosomal recessive disease congenital disorder of glycosylation type I
External Links
Disease Ontology
DOID:0080556
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
5373 PMM2 phosphomannomutase 2
9526 MPDU1 mannose-P-dolichol utilization defect 1
10195 ALG3 ALG3 alpha-1,3- mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
208624 Alg3 ALG3 alpha-1,3- mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
287983 Alg3 ALG3, alpha-1,3- mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
37754 Alg3 ALG3, alpha-1,3- mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
553725 alg3 ALG3 alpha-1,3- mannosyltransferase
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100037243 alg3.S ALG3, alpha-1,3- mannosyltransferase S homeolog Xenopus laevis (African clawed frog)
100127746 alg3 ALG3, alpha-1,3- mannosyltransferase Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
175065 algn-3 Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
852196 ALG3 dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichol alpha-1,3-mannosyltransferase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 75 in total
HPO ID HPO Term
HP:0000119 Abnormality of the genitourinary system
HP:0000158 Macroglossia
HP:0000172 Abnormal uvula morphology
HP:0000218 High palate
HP:0000252 Microcephaly
HP:0000365 Hearing impairment
HP:0000366 Abnormality of the nose
HP:0000377 Abnormal pinna morphology
HP:0000478 Abnormality of the eye
HP:0000518 Cataract
Displaying 1 entry
Gene ID Gene Symbol Description
10195 ALG3 ALG3 alpha-1,3- mannosyltransferase

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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