ALG13-CDG

A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene <i>ALG13</i> (Xq23).

Microcephaly

Head circumference below 2 standard deviations below the mean for age and gender.


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PMID (PMCID)
29709711
 MALE Infant
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).
Li G, Xu Y, Hu X, Li N, Yao R, Yu T, Wang X, Guo W, Wang J.
Eur J Med Genet. 2019;62(1):44-46.
COG6-CDG is a rare autosomal recessive disease of congenital disorders of glycosylation (CDG) caused by deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6), which is characterized by growth retardation, developmental disability, microcephaly, liver and gastrointestinal disease, recurrent infections and hypohidrosis/hyperthermia.
28777499
 MALE
ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.
Gadomski TE, Bolton M, Alfadhel M, Dvorak C, Ogunsakin OA, Nelson SL, Morava E.
Am J Med Genet A. 2017;173(10):2772-2775.
ALG13-CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focusing in serum.
12118527
 FEMALE Infant
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy.
Prietsch V, Peters V, Hackler R, Jakobi R, Assmann B, Fang J, Korner C, Helwig-Rolig A, Schaefer JR, Hoffmann GF.
J Inherit Metab Dis. 2002;25(2):126-30.
Other symptoms that are often found in patients with CDG were not present, such as seizures, microcephaly, cerebellar hypoplasia, dysmorphic features, hepatointestinal disease, coagulopathy or multiorgan involvement.