CONGENITAL DISORDER OF GLYCOSYLATION CDG-Im

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Im?

Accepted Answer

rare
autosomal recessive
mutation in the DOLK gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Im; Dolicholkinase-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 610768

Question 4

Which enzymes are involved?

Accepted Answer

dolichol kinase

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Im
Synonym	CDG1M; DOLK-CDG
OMIM	610768 OMIM = Online Mendelian Inheritance of Men
Orphanet	91131
Protein (UniProt)	dolichol kinase
ExPASy	2.7.1.108
Gene locus	9q34.11
ICD	E77.8
Summary	rare autosomal recessive mutation in the DOLK gene
Laboratory findings	D-Glucose dec (plasma) Disialotransferrin inc (urine)
Symptoms	cardiomyopathy cardiomyopathy, dilated digital constrictions early death epilepsy failure to thrive hair, abnormal (thin, brittle, fine) hypotonia ichthyosis clubfoot developmental delay dysmorphism hair loss hepatomegaly (large liver) hyperglycemia hyperkeratosis hypoglycemia hypoketotic hypoglycemia intellectual disability/intellectual developmental disorder microcephaly (<2 SD for age) nystagmus onset, infancy onset, neonatal puberty, delayed or missing renal dysfunction, renal defects seizures short stature skin, abnormal