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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ip
ALG11-CDG
613661
OMIM = Online Medalian Inheritance of Men
280071
13q14.3
rare
autosomal recessive
symptoms
cerebral atrophy
dysmorphism
early death
feeding difficulties, poor feeding
hearing defect, deafness
hypotonia
inverted nipples
mental retardation
microcephaly
motor retardation
onset, infant
opisthotonus
seizures
speech difficulties
strabismus
temperature instability
vomiting
laboratory finding
Asialotransferrin0.000.00 increasedserumall
Lactate0.000.00 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