Autoimmune lymphoproliferative syndrome, type iia

Preferred Label : Autoimmune lymphoproliferative syndrome, type iia;

Symbol : ALPS2A;

CISMeF acronym : ALPS2A; ALPS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Autoimmune lymphoproliferative syndrome, type II; ALPS2;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the caspase 10 gene (CASP10, 601762.0001);

Laboratory abnormalities : Increased levels of IgM; Anti-factor VIII positive; Direct Coombs positive; Increased levels of IgG; Platelet antibody positive; Neutrophil antibody positive; Phospholipid antibody positive; Smooth muscle antibody positive; Rheumatoid factor positive; Antinuclear antibody positive; Antiribonuclear protein positive; Anti-SSB positive; Increased levels of IgA;

Prefixed ID : #603909;

Details

Origin ID

603909;

UMLS CUI

C1858968;

Automatic exact mappings (from CISMeF team)
- CASP10 wt Allele [NCIt concept]
- Caspase-10 [NCIt concept]
Broader ORDO disease(s)
- Autoimmune lymphoproliferative syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- autoimmune lymphoproliferative syndrome type 2A [DO Concept]
- autoimmune lymphoproliferative syndrome type IIA [Disease (Nov.)]
- autoimmune lymphoproliferative syndrome, type IIA [MeSH concept]
- autoimmune lymphoproliferative syndrome, type IIA [MeSH Supplementary Concept]
DO Cross reference
- autoimmune lymphoproliferative syndrome type 2A [DO Concept]
Genes related to phenotype
- Caspase 10, apoptosis-related cysteine protease [OMIM gene]
HPO term(s)
- Antineutrophil antibody positivity [HPO term]
- Antinuclear antibody positivity [HPO term]
- Antiphospholipid antibody positivity [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autoimmune thrombocytopenia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chronic noninfectious lymphadenopathy [HPO term]
- Coombs-positive hemolytic anemia [HPO term]
- Decreased lymphocyte apoptosis [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells [HPO term]
- Eosinophilia [HPO term]
- Follicular hyperplasia [HPO term]
- Gastrointestinal hemorrhage [HPO term]
- Hepatomegaly [HPO term]
- Increased B cell count [HPO term]
- Increased circulating IgA level [HPO term]
- Increased circulating IgG level [HPO term]
- Increased circulating IgM level [HPO term]
- Increased proportion of HLA DR+ T cells [HPO term]
- Iron deficiency anemia [HPO term]
- Juvenile onset [HPO term]
- Lymphadenopathy [HPO term]
- Malar rash [HPO term]
- Nephritis [HPO term]
- Nephrotic syndrome [HPO term]
- Neutropenia in presence of anti-neutropil antibodies [HPO term]
- Petechiae [HPO term]
- Platelet antibody positive [HPO term]
- Reduced delayed hypersensitivity [HPO term]
- Rheumatoid factor positive [HPO term]
- Smooth muscle antibody positivity [HPO term]
- Splenomegaly [HPO term]
- Thrombocytopenia [HPO term]
- Urticaria [HPO term]
- Vasculitis [HPO term]
ORDO concept(s)
- Autoimmune lymphoproliferative syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autoimmune Lymphoproliferative Syndrome with Germline CASP10 Mutation [NCIt concept]
- autoimmune lymphoproliferative syndrome type 2A [DO Concept]
- autoimmune lymphoproliferative syndrome type IIA [Disease (Nov.)]
- autoimmune lymphoproliferative syndrome, type IIA [MeSH Supplementary Concept]
- autoimmune lymphoproliferative syndrome, type IIA [MeSH concept]

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