B4GALT1-CDG (CDG-IId)
Other Names: CDG 2D; CDG2D; Congenital disorder of glycosylation, type IId ; Congenital disorder of glycosylation type IID; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; Carbohydrate deficient glycoprotein syndrome type IId; CDG-IId; Congenital disorder of glycosylation type 2d; B4GALT1-CDG
B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-Walker malformation, hydrocephaly, hypotonia, myopathy and coagulation anomalies. To date, only one case has been reported. The syndrome is associated with mutations in the GALT1 gene (localised to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.
NIH genetic and rare disease info[edit source]
B4GALT1-CDG (CDG-IId) is a rare disease.
| B4GALT1-CDG (CDG-IId) 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: Admin, Deepika vegiraju, Prab R. Tumpati, MD
