Terminology Service for NFDI4Health
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B4GALT1-CDG

Go to external page http://purl.obolibrary.org/obo/MONDO_0011772

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. [ ]

Term info

Label

B4GALT1-CDG

Synonyms
  • B4GALT1-CDG
  • Beta-1,4-galactosyltransferase deficiency
  • CDG syndrome type IId
  • CDG-IId
  • CDG2D
  • carbohydrate deficient glycoprotein syndrome type IId
  • congenital disorder of glycosylation type 2d
  • congenital disorder of glycosylation type IId
database cross reference
Subsets

ordo_disease

exactMatch

http://linkedlifedata.com/resource/umls/id/C2931009, http://purl.obolibrary.org/obo/DOID_0070256, https://omim.org/entry/607091, http://identifiers.org/mesh/C535753, http://identifiers.org/snomedct/725587007, http://purl.obolibrary.org/obo/Orphanet_79332

has related synonym

congenital disorder of glycosylation, type IId, B4GALT1-CDG (CDG-IId), CDG IId, CDG 2D

id

MONDO:0011772

narrowMatch

https://icd.codes/icd10cm/E77.8