congenital disorder of glycosylation Ik

Summary
Synonym
  • congenital disorder of glycosylation 1k
Definition
A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13.
Super Class
autosomal recessive disease congenital disorder of glycosylation type I
External Links
Disease Ontology
DOID:0080563
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
56052 ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
644974 ALG1L2 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
208211 Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
360475 Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
42146 Alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
334161 alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
594994 alg1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase Xenopus tropicalis (tropical clawed frog)
100037043 alg1.L ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
175920 algn-1 Chitobiosyldiphosphodolichol beta-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
852407 ALG1 chitobiosyldiphosphodolichol beta-1,4 mannosyltransferase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 1 - 10 of 50 in total
HPO ID HPO Term
HP:0001410 Decreased liver function
HP:0100806 Sepsis
HP:0000924 Abnormality of the skeletal system
HP:0002650 Scoliosis
HP:0000253 Progressive microcephaly
HP:0001999 Abnormal facial shape
HP:0002878 Respiratory failure
HP:0001256 Intellectual disability, mild
HP:0000083 Renal insufficiency
HP:0001638 Cardiomyopathy
Displaying 1 entry
Gene ID Gene Symbol Description
56052 ALG1 ALG1 chitobiosyldiphosphodolichol beta-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