CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ip

Question 1

What is  CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ip?

Accepted Answer

rare
autosomal recessive
mutation in the ALG11 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

CDG-Syndrom Typ Ip

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613661

Question 4

Which enzymes are involved?

Accepted Answer

GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase

Disease	CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ip
Synonym	CDG1P; ALG11-CDG
OMIM	613661 OMIM = Online Mendelian Inheritance of Men
Orphanet	280071
Protein (UniProt)	GDP-Man:Man(3)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase
ExPASy	2.4.1.131
Gene locus	13q14.3
ICD	E77.8
Summary	rare autosomal recessive mutation in the ALG11 gene
Laboratory findings	Asialotransferrin inc (serum) Disialotransferrin inc (serum) L-Lactic acid normal/inc (plasma) Prolactin normal/inc (serum)
Symptoms	cerebral atrophy dysmorphism early death epilepsy episodic course (clinical symptoms) feeding difficulties, poor feeding hearing defect, deafness hypotonia inverted nipples lactic acidosis mental retardation microcephaly (<2 SD for age) motor retardation onset, infancy opisthotonus psychomotor retardation seizures speech difficulties strabismus temperature instability vomiting