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classic galactosemia
Summary
- Synonym
-
- GALT deficiency
- galactose-1-phosphate uridyltransferase deficiency
- galactosemia type 1
- Definition
- A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALT gene on chromosome 9p13.3.
- Super Class
- autosomal recessive disease galactosemia
External Links
- Disease Ontology
- DOID:0111459
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 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 | |
| 2813 | GP2 | glycoprotein 2 | |
| 3956 | LGALS1 | galectin 1 | |
| 7360 | UGP2 | UDP-glucose pyrophosphorylase 2 | |
| 7368 | UGT8 | UDP glycosyltransferase 8 | |
| 130589 | GALM | galactose mutarotase |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002014 | Diarrhea |
| HP:0002141 | Gait imbalance |
| HP:0002174 | Postural tremor |
| HP:0002240 | Hepatomegaly |
| HP:0002311 | Incoordination |
| HP:0002312 | Clumsiness |
| HP:0002345 | Action tremor |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0003251 | Male infertility |
| HP:0004349 | Reduced bone mineral density |
