Autosomal recessive hereditary disorder
Carbohydrate-deficient glycoprotein syndrome type I
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Carbohydrate deficient glycoprotein syndrome type 1m (disorder)
Carbohydrate deficient glycoprotein syndrome type 1m
Carbohydrate deficient glycoprotein syndrome type Im
CDG1M - carbohydrate deficient glycoprotein syndrome type 1m
This syndrome has characteristics of muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.
congenitaal defect in glycosylering type Im
CDG-syndroom type Im
Id718712005
StatusPrimitive
OccurrenceCongenital
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetE77.8
RuleTRUE
AdviceALWAYS E77.8
CorrelationSNOMED CT source code to target map code correlation not specified