|
OS
MCID: OMN001
MIFTS: 67
|
Omenn Syndrome (OS)
Categories:
Blood diseases, Genetic diseases, Immune diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Omenn Syndrome:
Characteristics:Orphanet epidemiological data:58
omenn syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Blood diseases Immune diseases
ICD10:
32
33
Orphanet: 58
Rare immunological diseases External Ids:
|
|
Genetics Home Reference :
25
Omenn syndrome is an inherited disorder of the immune system (immunodeficiency). Omenn syndrome is one of several forms of severe combined immunodeficiency (SCID), a group of disorders that cause individuals to have virtually no immune protection from bacteria, viruses, and fungi. Individuals with SCID are prone to repeated and persistent infections that can be very serious or life-threatening. Infants with Omenn syndrome typically experience pneumonia and chronic diarrhea. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people.
In addition to immunodeficiency, children with Omenn syndrome develop autoimmunity, in which the immune system attacks the body's own tissues and organs. This abnormal immune reaction can cause very red skin (erythroderma), hair loss (alopecia), and an enlarged liver and spleen (hepatosplenomegaly). In addition, affected individuals have enlargement of tissues that produce infection-fighting white blood cells called lymphocytes. These include the thymus, which is a gland located behind the breastbone, and lymph nodes, which are found throughout the body.
If not treated in a way that restores immune function, children with Omenn syndrome usually survive only until age 1 or 2.
MalaCards based summary : Omenn Syndrome, also known as histiocytic medullary reticulosis, is related to combined t cell and b cell immunodeficiency and hypereosinophilic syndrome, and has symptoms including diarrhea An important gene associated with Omenn Syndrome is RAG2 (Recombination Activating 2), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Fludarabine and Hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include t cells, skin and b cells, and related phenotypes are hepatomegaly and failure to thrive Disease Ontology : 12 A severe combined immunodeficiency that has material basis in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. NIH Rare Diseases : 52 Omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea, failure to thrive , lymphadenopathy (enlarged lymph nodes ), eosinophilia , hepatosplenomegaly , and elevated serum IgE levels. Patients are highly susceptible to infection and develop fungal, bacterial, and viral infections typical of SCID. In this syndrome, the SCID is associated with low IgG, IgA, and IgM and the virtual absence of B cells . There is an elevated number of T cells, but their function is impaired. Omenn syndrome has been found to be caused by mutations in the RAG1 or RAG2 genes . Additional causative genes have been identified. Early recognition of this condition is important for genetic counseling and early treatment. If left untreated, Omenn syndrome is fatal. The prognosis may be improved with early diagnosis and treatment with compatible bone marrow or cord blood stem cell transplantation. OMIM : 56 Omenn syndrome is an autosomal recessive disorder characterized by severe combined immunodeficiency (SCID) associated with erythrodermia, hepatosplenomegaly, lymphadenopathy, and alopecia. B cells are mostly absent, T-cell counts are normal to elevated, and T cells are frequently activated and express a restricted T-cell receptor (TCR) repertoire (summary by Ege et al., 2005). (603554) UniProtKB/Swiss-Prot : 73 Omenn syndrome: Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels. Wikipedia : 74 Omenn syndrome is an autosomal recessive severe combined immunodeficiency. It is associated with... more... |
Human phenotypes related to Omenn Syndrome:58 31 (show all 37)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:603554UMLS symptoms related to Omenn Syndrome:diarrhea MGI Mouse Phenotypes related to Omenn Syndrome:45 (show all 18)
|
Drugs for Omenn Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 10)
Interventional clinical trials:
|
MalaCards organs/tissues related to Omenn Syndrome:40
T Cells,
Skin,
B Cells,
Lymph Node,
Bone,
Bone Marrow,
Thymus
|
Articles related to Omenn Syndrome:(show top 50) (show all 410)
|
|
- Elite gene
- Cancer Census gene in COSMIC
|
ClinVar genetic disease variations for Omenn Syndrome:6 (show top 50) (show all 300)
UniProtKB/Swiss-Prot genetic disease variations for Omenn Syndrome:73 (show all 28)
|
|
Search
GEO
for disease gene expression data for Omenn Syndrome.
|
Pathways related to Omenn Syndrome according to GeneCards Suite gene sharing:(show all 46)
|
Cellular components related to Omenn Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Omenn Syndrome according to GeneCards Suite gene sharing:(show top 50) (show all 51)
Molecular functions related to Omenn Syndrome according to GeneCards Suite gene sharing:
|
|