congenital disorder of glycosylation Il

Summary
Synonym
  • congenital disorder of glycosylation 1l
Definition
A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23.
Super Class
autosomal recessive disease congenital disorder of glycosylation type I
External Links
Disease Ontology
DOID:0080564
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
23545 ATP6V0A2 ATPase H+ transporting V0 subunit a2
79796 ALG9 ALG9 alpha-1,2-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
102580 Alg9 ALG9 alpha-1,2-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
367083 Alg9 ALG9, alpha-1,2-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
43031 Alg9 ALG9, alpha-1,2-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
393598 alg9 ALG9 alpha-1,2-mannosyltransferase
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100497477 alg9 ALG9, alpha-1,2-mannosyltransferase Xenopus tropicalis (tropical clawed frog)
108696484 alg9.L ALG9, alpha-1,2-mannosyltransferase L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
174633 algn-9 Alpha-1,2-mannosyltransferase algn-9
Displaying 1 entry
Gene ID Gene Symbol Description Source
855502 ALG9 dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 61 - 70 of 105 in total
HPO ID HPO Term
HP:0003015 Flared metaphysis
HP:0003026 Short long bone
HP:0003186 Inverted nipples
HP:0003196 Short nose
HP:0003375 Narrow greater sciatic notch
HP:0005133 Right ventricular dilatation
HP:0005180 Tricuspid regurgitation
HP:0005280 Depressed nasal bridge
HP:0005343 Hypoplasia of the bladder
HP:0005487 Prominent metopic ridge
Displaying 1 entry
Gene ID Gene Symbol Description
79796 ALG9 ALG9 alpha-1,2-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