congenital disorder of glycosylation Ip

Summary
Synonym
  • congenital disorder of glycosylation 1p
Definition
A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14.
Super Class
autosomal recessive disease congenital disorder of glycosylation type I
External Links
Disease Ontology
DOID:0080567
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
440138 ALG11 ALG11 alpha-1,2-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
207958 Alg11 ALG11 alpha-1,2-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
361174 Alg11 ALG11, alpha-1,2-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
40402 Alg11 ALG11, alpha-1,2-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
407614 alg11 ALG11 alpha-1,2-mannosyltransferase
Displaying all 3 entries
Gene ID Gene Symbol Description Source Organism
394898 alg11 ALG11, alpha-1,2-mannosyltransferase Xenopus tropicalis (tropical clawed frog)
733388 alg11.L ALG11, alpha-1,2-mannosyltransferase L homeolog Xenopus laevis (African clawed frog)
108709929 alg11.S ALG11, alpha-1,2-mannosyltransferase S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
176032 algn-11 GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
855679 ALG11 alpha-1,2-mannosyltransferase ALG11
Related Glycoprotein
The Human Phenotype Ontology
Displaying entries 31 - 40 of 52 in total
HPO ID HPO Term
HP:0008936 Axial hypotonia
HP:0008947 Infantile muscular hypotonia
HP:0009124 Abnormal adipose tissue morphology
HP:0010851 EEG with burst suppression
HP:0011842 Abnormal skeletal morphology
HP:0011968 Feeding difficulties
HP:0012448 Delayed myelination
HP:0012704 Widened subarachnoid space
HP:0012760 Reduced social reciprocity
HP:0012762 Cerebral white matter atrophy
Displaying 1 entry
Gene ID Gene Symbol Description
440138 ALG11 ALG11 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