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galactokinase deficiency
Summary
- Synonym
-
- Galactosemia II
- Definition
- A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase.
- Super Class
- galactosemia
External Links
- Disease Ontology
- DOID:14695
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 231 | AKR1B1 | aldo-keto reductase family 1 member B | |
| 1595 | CYP51A1 | cytochrome P450 family 51 subfamily A member 1 | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2582 | GALE | UDP-galactose-4-epimerase | |
| 2584 | GALK1 | galactokinase 1 | |
| 2592 | GALT | galactose-1-phosphate uridylyltransferase | |
| 2710 | GK | glycerol kinase | |
| 2813 | GP2 | glycoprotein 2 | |
| 3956 | LGALS1 | galectin 1 | |
| 4245 | MGAT1 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16880 | 2-hydroxyacylsphingosine 1-beta-galactosyltransferase | |
| Q9H6U8 | Alpha-1,2-mannosyltransferase ALG9 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0002240 | Hepatomegaly |
| HP:0000252 | Microcephaly |
| HP:0004431 | Reduced circulating complement concentration |
| HP:0001433 | Hepatosplenomegaly |
| HP:0012024 | Hypergalactosemia |
| HP:0000842 | Hyperinsulinemia |
| HP:0001943 | Hypoglycemia |
| HP:0012768 | Neonatal asphyxia |
| HP:0001250 | Seizure |
