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autoimmune lymphoproliferative syndrome
Summary
- Synonym
-
- ALPS
- Canale-Smith syndrome
- Definition
- A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.
- Super Class
- hypersensitivity reaction type IV disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 23274 | CLEC16A | C-type lectin domain containing 16A | |
| 23417 | MLYCD | malonyl-CoA decarboxylase | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 27087 | B3GAT1 | beta-1,3-glucuronyltransferase 1 | |
| 27306 | HPGDS | hematopoietic prostaglandin D synthase | |
| 29071 | C1GALT1C1 | C1GALT1 specific chaperone 1 | |
| 51084 | CRYL1 | crystallin lambda 1 | |
| 56624 | ASAH2 | N-acylsphingosine amidohydrolase 2 | |
| 56848 | SPHK2 | sphingosine kinase 2 | |
| 56913 | C1GALT1 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19320 | Vascular cell adhesion protein 1 | |
| P19367 | Hexokinase-1 | |
| P19526 | Galactoside alpha-(1,2)-fucosyltransferase 1 | |
| P19835 | Bile salt-activated lipase | |
| P20273 | B-cell receptor CD22 | |
| P20815 | Cytochrome P450 3A5 | |
| P20916 | Myelin-associated glycoprotein | |
| P21589 | 5'-nucleotidase | |
| P22303 | Acetylcholinesterase | |
| P22897 | Macrophage mannose receptor 1 |
