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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 |
|---|---|---|---|
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 4913 | NTHL1 | nth like DNA glycosylase 1 | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 5209 | PFKFB3 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | |
| 5563 | PRKAA2 | protein kinase AMP-activated catalytic subunit alpha 2 | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 7124 | TNF | tumor necrosis factor | |
| 7412 | VCAM1 | vascular cell adhesion molecule 1 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11766 | Alcohol dehydrogenase class-3 | |
| P13591 | Neural cell adhesion molecule 1 | |
| P16070 | CD44 antigen | |
| P19320 | Vascular cell adhesion protein 1 | |
| P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 | |
| P20073 | Annexin A7 | |
| P20138 | Myeloid cell surface antigen CD33 | |
| P22897 | Macrophage mannose receptor 1 | |
| P28907 | ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 | |
| P35610 | Sterol O-acyltransferase 1 |
