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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 |
|---|---|---|---|
| 3820 | KLRB1 | killer cell lectin like receptor B1 | |
| 3824 | KLRD1 | killer cell lectin like receptor D1 | |
| 3956 | LGALS1 | galectin 1 | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5315 | PKM | pyruvate kinase M1/2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q02246 | Contactin-2 | |
| Q12918 | Killer cell lectin-like receptor subfamily B member 1 | |
| Q13241 | Natural killer cells antigen CD94 | |
| Q13478 | Interleukin-18 receptor 1 | |
| Q15125 | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase | |
| Q8TB61 | Adenosine 3'-phospho 5'-phosphosulfate transporter 1 | |
| Q9NR71 | Neutral ceramidase |
