DPAGT1-CDG

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Synonyms: CDG syndrome type Ij | CDG-Ij | CDG1J | Carbohydrate deficient glycoprotein syndrome type Ij | Congenital disorder of glycosylation type 1j | Congenital disorder of glycosylation type Ij | Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency

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).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version September 2024

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Advocacy Organizations

CDG CARE

Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

Mississippi Metabolics Foundation

Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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