Omenn syndrome

Preferred Label : Omenn syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Reticuloendotheliosis, familial, with eosinophilia; Severe combined immunodeficiency with hypereosinophilia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the recombinase activating gene 2 (RAG2, 179616.0003); Caused by mutation in the recombinase activating gene 1 (RAG1, 179615.0005);

Laboratory abnormalities : Hypoproteinemia; Increased IgE; Very low IgM; Very low IgA; Very low IgG;

Prefixed ID : #603554;

Détails

Origin ID

603554;

UMLS CUI

C2700553;

Automatic exact mappings (from CISMeF team)
- severe combined immunodeficiency [MeSH Descriptor]
CISMeF manual mappings
- Severe combined immunodeficiency with hypereosinophilia (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Histiocytic medullary reticulosis (disorder) [SNOMED CT concept]
- Omenn Syndrome [NCIt concept]
- Omenn syndrome [PASCAL descriptor]
- Omenn syndrome [DO Concept]
- Omenn syndrome [Disease (Nov.)]
- Omenn syndrome [MedDRA Preferred Term]
- Omenn syndrome [ORDO Disease]
- Reticuloendotheliosis, familial, with eosinophilia [MeSH concept]
- Severe combined immunodeficiency with hypereosinophilia [ICD-11 More detail]
- omenn syndrome [MeSH concept]
- reticuloendotheliosis, familial, with eosinophilia [MeSH Supplementary Concept]
DO Cross reference
- Omenn syndrome [DO Concept]
Genes related to phenotype
- Dna cross-link repair protein 1c [OMIM gene]
- Recombination-activating gene 1 [OMIM gene]
- Recombination-activating gene 2 [OMIM gene]
HPO term(s)
- Alopecia [HPO term]
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- B lymphocytopenia [HPO term]
- Diarrhea [HPO term]
- Eosinophilia [HPO term]
- Erythroderma [HPO term]
- Failure to thrive [HPO term]
- Hepatomegaly [HPO term]
- Hypoplasia of the thymus [HPO term]
- Hypoproteinemia [HPO term]
- Increased frequency of bacterial, viral, and fungal infections [HPO term]
- Lymphadenopathy [HPO term]
- Pneumonia [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent fungal infections [HPO term]
- Recurrent viral infections [HPO term]
- Severe B lymphocytopenia [HPO term]
- Splenomegaly [HPO term]
- Thickened skin [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Omenn syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Omenn Syndrome [NCIt concept]
- Omenn syndrome [MedDRA Preferred Term]
- Omenn syndrome [ORDO Disease]

Position du mot-clé dans l'(les) arborescence(s) :

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