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hereditary spherocytosis
Summary
- Synonym
-
- Congenital spherocytic hemolytic anemia
- Minkowski Chauffard syndrome
- spherocytic anemia
- Definition
- A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape.
- Super Class
- congenital hemolytic anemia
External Links
- Disease Ontology
- DOID:12971
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 847 | CAT | catalase | |
| 1604 | CD55 | CD55 molecule (Cromer blood group) | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2539 | G6PD | glucose-6-phosphate dehydrogenase | |
| 2597 | GAPDH | glyceraldehyde-3-phosphate dehydrogenase | |
| 3098 | HK1 | hexokinase 1 | |
| 5230 | PGK1 | phosphoglycerate kinase 1 | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 7372 | UMPS | uridine monophosphate synthetase | |
| 7903 | ST8SIA4 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P00558 | Phosphoglycerate kinase 1 | |
| P04040 | Catalase | |
| P04406 | Glyceraldehyde-3-phosphate dehydrogenase | |
| P08174 | Complement decay-accelerating factor | |
| P11172 | Uridine 5'-monophosphate synthase | |
| P11413 | Glucose-6-phosphate 1-dehydrogenase | |
| P12821 | Angiotensin-converting enzyme | |
| P19224 | UDP-glucuronosyltransferase 1-6 | |
| P19367 | Hexokinase-1 | |
| P22309 | UDP-glucuronosyltransferase 1A1 |
