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MIRAGE
autoimmune lymphoproliferative syndrome type 4
Summary
- Synonym
-
- ALPS type 4
- ALPS type IV
- ALPS4
- RALD
- RAS-associated autoimmune leukoproliferative disease
- RAS-associated autoimmune leukoproliferative disorder
- autoimmune lymphoproliferative syndrome type IV
- Definition
- An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12.
- Super Class
- autoimmune lymphoproliferative syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110117
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P01111 | GTPase NRas | |
| P01116 | GTPase KRas |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001973 | Autoimmune thrombocytopenia |
| HP:0005523 | Lymphoproliferative disorder |
| HP:0001875 | Neutropenia |
| HP:0002719 | Recurrent infections |
| HP:0001442 | Typified by somatic mosaicism |
| HP:0002240 | Hepatomegaly |
| HP:0002731 | Decreased lymphocyte apoptosis |
| HP:0001878 | Hemolytic anemia |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0002205 | Recurrent respiratory infections |
