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 |
|---|---|---|---|
| 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 |
|---|---|---|
| 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 |
