Visit Metagene.de!
Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ip
CDG1P ALG11-CDG
613661
OMIM = Online Medalian Inheritance of Men
280071
13q14.3
rare
autosomal recessive
symptoms
cerebral atrophy
dysmorphism
early death
epilepsy
feeding difficulties, poor feeding
hearing defect, deafness
hypotonia
inverted nipples
mental retardation
microcephaly (<2 SD for age)
motor retardation
onset, infancy
opisthotonus
seizures
speech difficulties
strabismus
temperature instability
vomiting
laboratory finding
Asialotransferrin0.000.00 increasedserumall
L-Lactic acid0.000.00 normal-increasedplasmaall
Prolactin0.000.00 normal-increasedserumall
Disialotransferrin0.000.00 increasedserumall
Literature
Efrati Eet al.The human paracellin-1 gene (hPCLN-1): renal epithelial cell-specific expression and regulationAm J Physiol Renal Physiol2882F272-2832005
Vainsel Met al.Tetany due to hypomagnesaemia with secondary hypocalcaemiaArch Dis Child450254-2581970