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B4GALT1-congenital disorder of glycosylation
rareB4GALT1-CDG is a congenital disorder of glycosylation characterized 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 (localized to region q13 of chromosome 9) leading to a deficiency in the Golgi apparatus enzyme beta-1,4-galactosyl transferase.
- Identifiers
- MONDO:0011772 OMIM:607091Orphanet:79332
- Causal genes
- B4GALT1
- Part of
- Central nervous system malformationCongenital disorder of glycosylation type IICongenital nervous system disorderDevelopmental anomaly of metabolic originDisorder of multiple glycosylationHereditary neurological disease
- Also known as
- B4GALT1-CDG · B4GALT1-CDG (CDG-IId) · B4GALT1-related congenital disorder of glycosylation · Beta-1,4-galactosyltransferase deficiency · carbohydrate deficient glycoprotein syndrome type IId
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