Medicine:Dolichol kinase deficiency

Classification	D ICD-11: Script error: No such module "ICD11". 5C54.2; ICD-10: E77.8; OMIM: 610768; MeSH: C563666;
External resources	Medicine:GARD: dk1-cdg; Orphanet: 91131;

Dolichol kinase deficiency
Other names	Hypotonia and ichthyosis due to dolichol phosphate deficiency
	This condition is inherited in an autosomal recessive manner.

Dolichol kinase deficiency is a cutaneous condition caused by a mutation in the dolichol kinase gene.^[2]^[3]

It is also known as Congenital disorder of glycosylation 1m.

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Original source: https://en.wikipedia.org/wiki/Dolichol kinase deficiency. Read more

v t e Lysosomal storage diseases: Inborn errors of carbohydrate metabolism (Glycoproteinoses)
Anabolism	Dolichol kinase deficiency Congenital disorder of glycosylation
Post-translational modification of lysosomal enzymes	Mucolipidosis: I-cell disease (ML II) Pseudo-Hurler polydystrophy (ML III)
Catabolism	Aspartylglucosaminuria Fucosidosis mannosidosis Alpha-mannosidosis Beta-mannosidosis Sialidosis Schindler disease
Other	solute carrier family (Salla disease) Galactosialidosis

Classification	D ICD-11: Script error: No such module "ICD11". 5C54.2 ICD-10: E77.8 OMIM: 610768 MeSH: C563666
External resources	Medicine:GARD: dk1-cdg Orphanet: 91131