congenital disorder of glycosylation Ic

Summary
Synonym
  • congenital disorder of glycosylation 1c
Definition
A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31.
Super Class
autosomal recessive disease congenital disorder of glycosylation type I
External Links
Disease Ontology
DOID:0080555
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
29929 ALG6 ALG6 alpha-1,3-glucosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
320438 Alg6 ALG6 alpha-1,3-glucosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
362547 Alg6 ALG6, alpha-1,3-glucosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
34409 gny garnysstan
Displaying 1 entry
Gene ID Gene Symbol Description Source
445327 alg6 ALG6 alpha-1,3-glucosyltransferase
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
446684 alg6.S ALG6, alpha-1,3-glucosyltransferase S homeolog Xenopus laevis (African clawed frog)
496948 alg6 ALG6, alpha-1,3-glucosyltransferase Xenopus tropicalis (tropical clawed frog)
100049135 alg6.L ALG6, alpha-1,3-glucosyltransferase L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
182392 algn-6 putative dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
854163 ALG6 dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha-1,3-glucosyltransferase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 40 in total
HPO ID HPO Term
HP:0001508 Failure to thrive
HP:0012379 Abnormal circulating enzyme concentration or activity
HP:0000924 Abnormality of the skeletal system
HP:0003256 Abnormality of the coagulation cascade
HP:0000486 Strabismus
HP:0002625 Deep venous thrombosis
HP:0005543 Reduced protein C activity
HP:0001251 Ataxia
HP:0000316 Hypertelorism
HP:0001999 Abnormal facial shape
Displaying 1 entry
Gene ID Gene Symbol Description
29929 ALG6 ALG6 alpha-1,3-glucosyltransferase

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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