Ras-associated autoimmune leukoproliferative disorder

Preferred Label : Ras-associated autoimmune leukoproliferative disorder;

Symbol : RALD;

CISMeF acronym : ALPS4; RALD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ALPS4; Autoimmune lymphoproliferative syndrome, type iv;

Description : Autoimmune lymphoproliferative syndromes are characterized by chronic accumulation of nonmalignant lymphocytes, defective lymphocyte apoptosis, and an increased risk for the development of hematologic malignancies. ALPS IV is the first form known to be caused by abnormal intrinsic pathway apoptosis (summary by Oliveira et al., 2007). For a general phenotypic description and a discussion of genetic heterogeneity of ALPS, see 601859.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by somatic mutation in the NRAS proto-oncogene, GTPase, gene (NRAS, 164790.0003); Caused by somatic mutation in the KRAS proto-oncogene, GTPase, gene (KRAS, 190070.0005);

Neoplasia : Increased risk of hematologic malignancy (1 patient);

Prefixed ID : #614470;

Details

Origin ID

614470;

UMLS CUI

C2674723;

Automatic exact mappings (from CISMeF team)
- KRAS wt Allele [NCIt concept]
- NRAS wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- RAS-associated autoimmune leukoproliferative disease [ORDO Disease]
- RAS-associated autoimmune leukoproliferative disease (disorder) [SNOMED CT concept]
- autoimmune lymphoproliferative syndrome type 4 [DO Concept]
DO Cross reference
- autoimmune lymphoproliferative syndrome type 4 [DO Concept]
Genes related to phenotype
- Kras protooncogene, gtpase [OMIM gene]
- Nras protooncogene, gtpase [OMIM gene]
HPO term(s)
- Autoimmune thrombocytopenia [HPO term]
- Autoimmunity [HPO term]
- Autosomal dominant inheritance [HPO term]
- Decreased lymphocyte apoptosis [HPO term]
- Follicular hyperplasia [HPO term]
- Hemolytic anemia [HPO term]
- Hepatomegaly [HPO term]
- Increased circulating antibody level [HPO term]
- Leukemia [HPO term]
- Lymphocytosis [HPO term]
- Lymphoma [HPO term]
- Lymphoproliferative disorder [HPO term]
- Monocytosis [HPO term]
- Neutropenia [HPO term]
- Pancytopenia [HPO term]
- Recurrent infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Somatic mutation [HPO term]
- Splenomegaly [HPO term]
ORDO concept(s)
- RAS-associated autoimmune leukoproliferative disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- RAS-associated autoimmune leukoproliferative disease [ORDO Disease]
- RAS-associated autoimmune leukoproliferative disease (disorder) [SNOMED CT concept]

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