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Summary
DIGEORGE SYNDROME DGS
CHROMOSOME 22q11.2 DELETION SYNDROME
188400
OMIM = Online Medalian Inheritance of Men
567
22q11.21
rare
autosomal dominant
symptoms
behavior, abnormal or bizarre, confusion
cardiac involvement, cardiac defects
developmental delay
dysmorphism
dysphagia
gallstones, cholelithiasis
hearing defect, deafness
hernia
infections (severe or recurrent)
learning disability
low set ears
obesity
onset, infancy
onset, neonatal
psychosis
seizures
short stature
strabismus
swallowing difficulties
tetany
laboratory finding
Calcium decreasedserum
Phosphate increasedserum
Parathyroid hormone (PTH) lowserum
Literature
Shrimal S,et al.Mutations in STT3A and STT3B cause two congenital disorders of glycosylationHum Mol Genet22224638-46452013
Barone R,et al.DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsyAnn Neurol724550-5582012
Messina S,et al.Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsyNeurology73101599-16012009
Hodax JK,et al.Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemiaJ Pediatr Endocrinol Metab302247-2512017
Albash B,et al.Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature1. Eur J Pediatr1735647-6532014
Kueppers F,Sanders C.State-of-the-art testing for alpha-1 antitrypsin deficiencyAllergy Asthma Proc382108-1142017
Goldstein J,et al.Phosphorylase Kinase DeficiencyGeneReviews-«GeneReviews-«002011
Bali DS,et al.Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 geneMol Genet Metab1113309-3132014