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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
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:0003124 | Hypercholesterolemia |
| HP:0001270 | Motor delay |
| HP:0100018 | Nuclear cataract |
| HP:0000815 | Hypergonadotropic hypogonadism |
| HP:0011968 | Feeding difficulties |
| HP:0001622 | Premature birth |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0008209 | Premature ovarian insufficiency |
| HP:0001508 | Failure to thrive |
| HP:0012379 | Abnormal circulating enzyme concentration or activity |
