CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ih

very rare (<1:1000000, <20 patients) autosomal recessive

CDG-Syndrom Typ Ig; Glucosyltransferase 2-Mangel

Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ih?

Accepted Answer

very rare (<1:1000000, <20 patients)

autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Ig; Glucosyltransferase 2-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 608104

Question 4

Which enzymes are involved?

Accepted Answer

Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ih
Synonym	CDG1H; ALG8-CDG
OMIM	608104 OMIM = Online Mendelian Inheritance of Men
Orphanet	79325
Protein (UniProt)	Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase
Gene locus	11q14.1
ICD	E77.8
Summary	very rare (<1:1000000, <20 patients) autosomal recessive
Laboratory findings	Albumin dec (serum) IEF of serum transferrin, type 1 pattern (serum) Transferrin (serum)
Symptoms	anemia ascites ataxia blindness, visual loss, visual impairment cataract Coagulopathy/Coagulation factors diarrhea dysmorphism early death edema enteropathy, protein-loosing epilepsy failure to thrive fetal akinesia/hypokinesia sequence hepatomegaly (large liver) hydrops fetalis hypotonia intellectual disability/intellectual developmental disorder mental retardation nystagmus oligohydramnion (maternal) onset, infancy onset, neonatal optic atrophy osteopenia prematurity, premature delivery retinitis pigmentosa seizures thrombopenia, thrombocytopenia tubulopathy