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congenital disorder of glycosylation type IId
Summary
- Synonym
-
- CDG IId
- CDG2D
- CDGIId
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070256
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 36585 | beta4GalNAcTA | beta1,4-N-acetylgalactosaminyltransferase A |
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 549418 | b4galt1.2 | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 2 | Xenopus tropicalis (tropical clawed frog) | |
| 100145518 | b4galt1.1 | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 1 | Xenopus tropicalis (tropical clawed frog) | |
| 108706812 | b4galt1.1.S | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 1 S homeolog | Xenopus laevis (African clawed frog) | |
| 108706813 | b4galt1.2.S | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 2 S homeolog | Xenopus laevis (African clawed frog) | |
| 108712215 | b4galt1.1.L | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 1 L homeolog | Xenopus laevis (African clawed frog) | |
| 108712216 | b4galt1.2.L | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1, gene 2 L homeolog | Xenopus laevis (African clawed frog) |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P15291 | Beta-1,4-galactosyltransferase 1 | |
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000431 | Wide nasal bridge |
| HP:0009062 | Infantile axial hypotonia |
| HP:0001744 | Splenomegaly |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
| HP:0002014 | Diarrhea |
| HP:0001305 | Dandy-Walker malformation |
| HP:0004855 | Reduced protein S activity |
| HP:0000219 | Thin upper lip vermilion |
| HP:0002240 | Hepatomegaly |
| HP:0000316 | Hypertelorism |
