CONGENITAL DISORDER OF GLYCOSYLATION CDG-If

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-If?

Accepted Answer

very rare
autosomal recessive
defect in the gene MPDU1

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ If; Gestörte Utilisation von Dolichyl-P-Mannose

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 609180

Question 4

Which enzymes are involved?

Accepted Answer

Mannose-P-dolichol utilization defect 1 protein

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-If
Synonym	CDG1F; MPDU1-CDG
OMIM	609180 OMIM = Online Mendelian Inheritance of Men
Orphanet	79323
Protein (UniProt)	Mannose-P-dolichol utilization defect 1 protein
Gene locus	17p13.1
ICD	E77.8
Summary	very rare autosomal recessive defect in the gene MPDU1
Laboratory findings	Antithrombin III (AT III) dec (plasma) IEF of serum transferrin, type 1 pattern (serum) Transferrin (serum)
Symptoms	ataxia blindness, visual loss, visual impairment cerebral atrophy contractures, joints EEG abnormalities [-] failure to thrive feeding difficulties, poor feeding hypotonia impaired visual acuity mental retardation motor retardation MRI, brain, abnormalities [-] nystagmus onset, neonatal seizures skin rash, eczematous or seborrhoic speech development, delayed, abnormal vomiting