congenital disorder of glycosylation Im

Summary
Synonym
  • DOLK-congenital disorder of glycosylation
  • congenital disorder of glycosylation 1m
  • dolichol kinase deficiency
Definition
A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34.
Super Class
autosomal recessive disease congenital disorder of glycosylation type I
External Links
Disease Ontology
DOID:0080565
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
22845 DOLK dolichol kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
36856 Dolk Dolichol kinase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 46 in total
HPO ID HPO Term
HP:0003323 Progressive muscle weakness
HP:0001270 Motor delay
HP:0010845 EEG with generalized slow activity
HP:0000729 Autistic behavior
HP:0007359 Focal-onset seizure
HP:0012469 Infantile spasms
HP:0001644 Dilated cardiomyopathy
HP:0000486 Strabismus
HP:0002521 Hypsarrhythmia
HP:0008947 Infantile muscular hypotonia
Displaying 1 entry
Gene ID Gene Symbol Description
22845 DOLK dolichol kinase

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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