CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (CDG2R)

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (CDG2R)?

Accepted Answer

very rare

X-linked recessive

mutation in the ATP6AP2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 301045

Disease	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (CDG2R)
OMIM	301045 OMIM = Online Mendelian Inheritance of Men
Gene locus	Xp11.4
ICD
Summary	very rare X-linked recessive mutation in the ATP6AP2 gene
Laboratory findings	IEF of serum transferrin, type 2 pattern (serum) Immunoglobulins dec (serum) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	ascites cognitive impairment cutis laxa dysmorphism hepatomegaly (large liver) infections (severe or recurrent) jaundice liver failure liver involvement or dysfunction low set ears onset, infancy onset, neonatal small chin or micrognathia splenomegaly (large spleen)