congenital disorder of glycosylation Im

Term ID

DOID:0080565

Synonyms

congenital disorder of glycosylation 1m
dolichol kinase deficiency
DOLK-congenital disorder of glycosylation

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. (2)

References

GARD:12393
MIM:610768
ORDO:91131

Ontology

Human Disease ( DOID:0080565 )

Relationships

is a type of: autosomal recessive disease congenital disorder of glycosylation type I

autosomal recessive disease congenital disorder of glycosylation type I Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations