Autoimmune lymphoproliferative syndrome

Preferred Label : Autoimmune lymphoproliferative syndrome;

Symbol : ALPS;

CISMeF acronym : ALPS; ALPS1A; ALPS1B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Canale-smith syndrome; Autoimmune lymphoproliferative syndrome, type I, autosomal dominant;

Included titles and symbols : Autoimmune lymphoproliferative syndrome, type ia; Autoimmune lymphoproliferative syndrome, type ib; Autoimmune lymphoproliferative syndrome, type I, autosomal recessive; ALPS1A; ALPS1B;

Description : Autoimmune lymphoproliferative syndrome is a heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes. It manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias (summary by Dowdell et al., 2010). For a review of the autoimmune lymphoproliferative syndromes, see Teachey et al. (2009). - Genetic Heterogeneity of Autoimmune Lymphoproliferative Syndrome Type IIA ALPS (ALPS2A; 603909) is caused by mutation in the caspase-10 gene (CASP10; 601762). Puck and Straus (2004) designated caspase-8 deficiency (607271), caused by mutations in the CASP8 gene (601763), as type IIB ALPS. They stated that type III ALPS comprises cases in which a mutation has not been identified. Type IV ALPS (614470) is caused by mutation in the NRAS gene (164790).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the Fas ligand gene (FASL, 134638.0001); Caused by mutation in the Fas antigen gene (FAS, 134637.0001);

Neoplasia : Increased risk of malignant lymphoma;

Laboratory abnormalities : Increased levels of IgA; Increased levels of IgG; Elevated levels of vitamin B12; Direct Coombs positive; Platelet antibody positive; Neutrophil antibody positive; Phospholipid antibody positive; Smooth muscle antibody positive; Rheumatoid factor positive; Antinuclear antibody positive; Increased interleukin 10; Increased levels of IgM;

Prefixed ID : #601859;

Details

Origin ID

601859;

UMLS CUI

C1328840;

Automatic exact mappings (from CISMeF team)
- 1-hydroxy-2-[(6-o-.beta.-d-xylopyranosyl-.beta.-d-glucopyranosyl)oxy]anthraquinone [Substance BNPC]
- Antileukoproteinase [NCIt concept]
- CCL27 wt Allele [NCIt concept]
- FAS wt Allele [NCIt concept]
- FASLG wt Allele [NCIt concept]
- Fas Cell Surface Death Receptor Measurement [NCIt concept]
- SLPI wt Allele [NCIt concept]
- autoimmune lymphoproliferative syndrome, type I, autosomal recessive [MeSH concept]
- autoimmune lymphoproliferative syndrome, type I, autosomal recessive [MeSH Supplementary Concept]
- autoimmune lymphoproliferative syndrome, type IA [MeSH Supplementary Concept]
- autoimmune lymphoproliferative syndrome, type IA [MeSH concept]
- autoimmune lymphoproliferative syndrome, type IB [MeSH Supplementary Concept]
- autoimmune lymphoproliferative syndrome, type IB [MeSH concept]
- diffuse cerebral sclerosis of schilder [MeSH Descriptor]
- ruberythric acid [MeSH concept]
- ruberythric acid [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Autoimmune Lymphoproliferative Syndrome [NCIt concept]
- Autoimmune lymphoproliferative syndrome [PASCAL descriptor]
- Autoimmune lymphoproliferative syndrome [ICD-11 More detail]
- Autoimmune lymphoproliferative syndrome [ICD-9 code]
- Autoimmune lymphoproliferative syndrome [MedDRA Preferred Term]
- Autoimmune lymphoproliferative syndrome [ORDO Disease]
- Autoimmune lymphoproliferative syndrome (disorder) [SNOMED CT concept]
- autoimmune lymphoproliferative syndrome [DO Concept]
- autoimmune lymphoproliferative syndrome [Disease (Nov.)]
- autoimmune lymphoproliferative syndrome [MeSH Descriptor]
- autoimmune lymphoproliferative syndrome [MeSH concept]
DO Cross reference
- autoimmune lymphoproliferative syndrome [DO Concept]
Genes related to phenotype
- Fas cell surface death receptor [OMIM gene]
- Fas ligand [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 proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells [HPO term]
- Eosinophilia [HPO term]
- Follicular hyperplasia [HPO term]
- Hepatomegaly [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]
- Neutropenia in presence of anti-neutropil antibodies [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]
- 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 [NCIt concept]
- Autoimmune lymphoproliferative syndrome [MedDRA Preferred Term]
- Autoimmune lymphoproliferative syndrome [ORDO Disease]
- Autoimmune lymphoproliferative syndrome [ICD-9 code]
- Autoimmune lymphoproliferative syndrome [PASCAL descriptor]
- Autoimmune lymphoproliferative syndrome [ICD-11 More detail]
- Autoimmune lymphoproliferative syndrome (disorder) [SNOMED CT concept]
- autoimmune lymphoproliferative syndrome [MeSH Descriptor]
- autoimmune lymphoproliferative syndrome [MeSH concept]
- autoimmune lymphoproliferative syndrome [DO Concept]
- autoimmune lymphoproliferative syndrome [Disease (Nov.)]
Validated automatic mappings to BTNT
- autoimmune lymphoproliferative syndrome type Ia [Disease (Nov.)]
- autoimmune lymphoproliferative syndrome type Ib [Disease (Nov.)]

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