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ALG11-congenital disorder of glycosylation

MONDO:0013349

A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3).

Also known as: ALG11-CDG, ALG11-congenital disorder of glycosylation, CDG syndrome type Ip, CDG-Ip, CDG1P, carbohydrate deficient glycoprotein syndrome type Ip, congenital disorder of glycosylation type 1p, congenital disorder of glycosylation type Ip

26 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Congenital disorder of glycosylation (6) Disease of genetic or genomic mechanism (2) Glycoprotein metabolism disease (1) Congenital disorder of glycosylation type I (0) Disease by developmental or physiological process (0)
Trials to join now! 14 Not yet recruiting 3 Not yet finished but already full! 3 Completed 6
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