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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
lymphoproliferative syndrome 1
Summary
- Synonym
-
- LPFS1
- Definition
- A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.
- Super Class
- autosomal recessive disease lymphoproliferative syndrome
External Links
- Disease Ontology
- DOID:0060707
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 929 | CD14 | CD14 molecule | |
| 933 | CD22 | CD22 molecule | |
| 952 | CD38 | CD38 molecule | |
| 960 | CD44 | CD44 molecule (IN blood group) | |
| 1056 | CEL | carboxyl ester lipase | |
| 2208 | FCER2 | Fc epsilon receptor II | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 2271 | FH | fumarate hydratase | |
| 3383 | ICAM1 | intercellular adhesion molecule 1 | |
| 3554 | IL1R1 | interleukin 1 receptor type 1 |
Related Glycoprotein
