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B4GALT1-CDG
1 OMIM reference -
1 associated gene
6 connected diseases
5 signs/symptoms
Disease Type of connection
Lissencephaly due to TUBA1A mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Lethal acantholytic epidermolysis bullosa
Naxos disease
Synonym(s):
- 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
Classification (Orphanet):
- Inborn errors of metabolism
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare hepatic disease
- Rare neurologic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
B4GALT1 P15291137060
Very frequent
- Dandy-Walker anomaly
- Hydrocephaly
- Hypotonia
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Myopathy