DPAGT1-CDG (CDG-Ij)
Alternate names[edit | edit source]
CDG 1J; CDG1J; DPAGT1-CDG (CDG-Ij); Congenital disorder of glycosylation, type Ij ; CDG syndrome type Ij; CDG-Ij; Carbohydrate deficient glycoprotein syndrome type Ij; Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency; Congenital disorder of glycosylation type 1j; Congenital disorder of glycosylation type Ij; DPAGT1-CDG
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.
Cause[edit | edit source]
The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).
NIH genetic and rare disease info[edit source]
DPAGT1-CDG (CDG-Ij) is a rare disease.
| DPAGT1-CDG (CDG-Ij) Resources | ||
|---|---|---|
|
| |
Translate to: East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski
Navigation: Wellness - Encyclopedia - Health topics - Disease Index - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Deepika vegiraju
