Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Fanconi anemia
Summary
- Synonym
-
- Fanconi anaemia
- Fanconi pancytopenia
- Fanconi panmyelopathy
- Fanconi's anaemia
- Fanconi's anemia
- Definition
- A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair.
- Super Class
- congenital hypoplastic anemia
External Links
- Disease Ontology
- DOID:13636
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1555 | CYP2B6 | cytochrome P450 family 2 subfamily B member 6 | |
| 1583 | CYP11A1 | cytochrome P450 family 11 subfamily A member 1 | |
| 2023 | ENO1 | enolase 1 | |
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 2645 | GCK | glucokinase | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 4023 | LPL | lipoprotein lipase | |
| 4199 | ME1 | malic enzyme 1 | |
| 4360 | MRC1 | mannose receptor C-type 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60760 | Hematopoietic prostaglandin D synthase | |
| O60931 | Cystinosin | |
| P00492 | Hypoxanthine-guanine phosphoribosyltransferase | |
| P04040 | Catalase | |
| P05091 | Aldehyde dehydrogenase, mitochondrial | |
| P05362 | Intercellular adhesion molecule 1 | |
| P06733 | Alpha-enolase | |
| P06858 | Lipoprotein lipase | |
| P09326 | CD48 antigen | |
| P09874 | Poly [ADP-ribose] polymerase 1 |
