CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIf

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIf?

Accepted Answer

very rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ IIf; CMP-Sialinsäure-Ttransporter-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 603585

Question 4

Which enzymes are involved?

Accepted Answer

CMP-sialic acid transporter

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIf
Synonym	CDG2F; SLC35A1
OMIM	603585 OMIM = Online Mendelian Inheritance of Men
Orphanet	238459
Protein (UniProt)	CMP-sialic acid transporter
Gene locus	6q15
ICD	E77.8
Summary	very rare autosomal recessive
Laboratory findings	IEF of serum transferrin, type 2 pattern (serum) Protein inc (urine) Thrombocytes, Platelets dec (blood)
Symptoms	bleeding tendencies, hemorrhages early death epilepsy infections (severe or recurrent) neutropenia (decreased neutrophils) onset, infancy petechiae seizures thrombopenia, thrombocytopenia