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congenital disorder of glycosylation Ii

Summary

Synonym

congenital disorder of glycosylation 1i

Definition

A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22.

Super Class

autosomal recessive disease congenital disorder of glycosylation type I

External Links

Disease Ontology

DOID:0080561

Mondo Disease Ontology

MONDO:0011933

ORDO

79326

OMIM

607906

GARD

9836

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
85365	ALG2	ALG2 alpha-1,3/1,6-mannosyltransferase	Glyco-Disease Genes Database Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
56737	Alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
313231	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
38374	Alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
403068	alg2	ALG2 alpha-1,3/1,6-mannosyltransferase	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source	Organism
446622	alg2.L	ALG2, alpha-1,3/1,6-mannosyltransferase L homeolog	Alliance of Genome Resources	Xenopus laevis (African clawed frog)
595052	alg2	ALG2, alpha-1,3/1,6-mannosyltransferase	Alliance of Genome Resources	Xenopus tropicalis (tropical clawed frog)

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
173912	algn-2	Alpha-1,3/1,6-mannosyltransferase ALG2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
852815	ALG2	GDP-Man:Man(1)GlcNAc(2)-PP-dolichol alpha-1,3-mannosyltransferase	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **1 - 10** of 56 in total

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HPO ID	HPO Term
HP:0002521	Hypsarrhythmia
HP:0000707	Abnormality of the nervous system
HP:0012751	Abnormal basal ganglia MRI signal intensity
HP:0000494	Downslanted palpebral fissures
HP:0011344	Severe global developmental delay
HP:0001928	Abnormality of coagulation
HP:0000286	Epicanthus
HP:0006808	Cerebral hypomyelination
HP:0001250	Seizure
HP:0012469	Infantile spasms