CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION (CDGF)

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION (CDGF)?

Accepted Answer

very rare

autosomal recessive

mutation in the FUT8 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618005

Question 3

Which enzymes are involved?

Accepted Answer

Alpha-(1,6)-fucosyltransferase

Disease	CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION (CDGF)
Synonym	FUT8
OMIM	618005 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Alpha-(1,6)-fucosyltransferase
Gene locus	14q23.3
ICD
Summary	very rare autosomal recessive mutation in the FUT8 gene
Laboratory findings
Symptoms	dysmorphism failure to thrive feeding difficulties, poor feeding glaucoma heart involvement hirsutism hypoglycemia hypothyroidism hypotonia intellectual disability/intellectual developmental disorder intrauterine growth retardation limb abnormalities, limb deformities microcephaly (<2 SD for age) nephrocalcinosis neutropenia (decreased neutrophils) onset, fetus onset, infancy onset, neonatal polyhydramnion (maternal) psychomotor retardation respiratory insufficiency seizures short stature skeletal changes, skeletal abnormalities