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DPAGT1-congenital disorder of glycosylation

MONDO:0011964

DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

Also known as: CDG syndrome type Ij, CDG-Ij, CDG1J, CDGIj, DPAGT1-CDG, DPAGT1-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type Ij, congenital disorder of glycosylation type 1j

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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