Autoimmune Lymphoproliferative Syndrome with Germline CASP10 Mutation

Preferred Label : Autoimmune Lymphoproliferative Syndrome with Germline CASP10 Mutation;

NCIt synonyms : Type 2 ALPS; ALPS-CASP10; Type 2 Autoimmune Lymphoproliferative Syndrome; ALPS with Germline CASP10 Mutation;

NCIt definition : Autoimmune lymphoproliferative syndrome characterized by the presence of germline CASP10 mutation.;

Details

Origin ID

C39576;

UMLS CUI

C1858968;

CISMeF manual mappings
- autoimmune lymphoproliferative syndrome type II [Disease (Nov.)]
Disease may have findings
- Hepatomegaly [NCIt concept]
- Interleukin-10 Overexpression [NCIt concept]
- Lymphadenopathy [NCIt concept]
- Splenomegaly [NCIt concept]
- Thrombocytopenia [NCIt concept]
Has associated anatomic sites
- Immune System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoimmune lymphoproliferative syndrome, type iia [OMIM Phenotype]
- autoimmune lymphoproliferative syndrome type II [Disease (Nov.)]
- autoimmune lymphoproliferative syndrome type IIA [Disease (Nov.)]
- autoimmune lymphoproliferative syndrome, type IIA [MeSH Supplementary Concept]
- autoimmune lymphoproliferative syndrome, type IIA [MeSH concept]
disease_excludes_molecular_abnormality
- FAS Gene Mutation [NCIt concept]
disease_has_abnormal_cell
- Reactive Lymphocyte [NCIt concept]
disease_has_molecular_abnormality
- Germline CASP10 Gene Mutation [NCIt concept]
- Germline Variation [NCIt concept]
disease_has_normal_cell_origin
- Lymphocyte [NCIt concept]
disease_mapped_to_gene
- CASP10 Gene [NCIt concept]
disease_may_have_abnormal_cell
- Atypical Lymphocyte [NCIt concept]
disease_may_have_associated_disease
- Anemia [NCIt concept]
- Autoimmune Disease [NCIt concept]
- Autoimmune Lymphoproliferative Syndrome-Related Lymphoma [NCIt concept]
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
- Rosai-Dorfman-Destombes Disease [NCIt concept]
pathogenesis_of_disease_involves_gene
- CASP10 Gene [NCIt concept]
- CASP10 wt Allele [NCIt concept]
related_to_genetic_biomarker
- CASP10 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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