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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 |
|---|---|---|---|
| 128 | ADH5 | alcohol dehydrogenase 5 (class III), chi polypeptide | |
| 142 | PARP1 | poly(ADP-ribose) polymerase 1 | |
| 217 | ALDH2 | aldehyde dehydrogenase 2 family member | |
| 310 | ANXA7 | annexin A7 | |
| 847 | CAT | catalase | |
| 945 | CD33 | CD33 molecule | |
| 952 | CD38 | CD38 molecule | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 962 | CD48 | CD48 molecule | |
| 1497 | CTNS | cystinosin, lysosomal cystine transporter |
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 |
