MCID: OMN001
MIFTS: 72

Omenn Syndrome malady

Immune diseases, Blood diseases, Genetic diseases categories

Summaries for Omenn Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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. last updated: 3/21/2012

MalaCards: Omenn Syndrome, also known as severe combined immunodeficiency with hypereosinophilia, is related to gamma chain deficiency and leukemia, and has symptoms including lymphadenopathy/polyadenopathies, ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity and dysplastic/thick/grooved fingernails. An important gene associated with Omenn Syndrome is RAG2 (recombination activating gene 2), and among its related pathways are Th17 Differentiation and Regulation of IFNG signaling. The drug pegademase bovine and the compounds rolipram and indomethacin have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and skin, and related mouse phenotypes are respiratory system and skeleton.

Disease Ontology:8 A combined t cell and b cell immunodeficiency that is an autosomal recessive immunodeficiency associated with mutations in the recombination activating genes (rag1 and rag2), affecting circulating levels of both b-cells and t-cells.

Wikipedia:63 Omenn syndrome is an autosomal recessive severe combined immunodeficiency associated with mutations in... more...

Description from OMIM:46 603554

Aliases & Classifications for Omenn Syndrome

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Immune diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

48
omenn syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5


Aliases & Descriptions:

omenn syndrome 8 9 42 20 46 10 44 48
severe combined immunodeficiency with hypereosinophilia 42
reticuloendotheliosis familial with eosinophilia 42
combined immunodeficiency with hypereosinophilia 48
histiocytic medullary reticulosis 60
severe combined immunodeficiency 60


External Ids:

Disease Ontology8 DOID:0060010
OMIM46 603554
ICD10 via Orphanet26 D81.8
SNOMED-CT via Orphanet57 307650006
ICD1025 D81

Related Diseases for Omenn Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Omenn Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 292)
idRelated DiseaseScoreTop Affiliating Genes
1gamma chain deficiency31.2ADA, IL7R, IL4, IL2RG
2leukemia31.0IL4, IFNG, ADA, FABP12, RAG2, RAG1
3obesity30.8FABP12, CYP1A2
4severe combined immunodeficiency30.7IL5, RAG2, RAG1, IL4, IL7R, LIG4
5severe combined immunodeficiency, b cell-negative30.5RAG1, RAG2
6hepatitis30.5AIRE, CYP1A2
7myeloma30.5IL7R, FABP12, IL4, IGHE
8pneumonia30.5IL5
9prostate cancer30.4CYP1A2, LIG4, DCLRE1C, FABP12
10arthritis30.4IL1RN, IL4, IFNG, RAG2
11rheumatoid arthritis30.4ADA, IL1RN, IFNG, IL4
12t-cell leukemia30.2IL5, RAG1, RAG2, ADA
13myasthenia gravis30.2IL4, IFNG, AIRE
14autoimmune thyroiditis30.2AIRE, IFNG, IL4
15tuberculosis30.2ADA, IL4, IFNGR1, IFNG
16graves' disease30.2IFNG, IL4, IL1RN, AIRE
17breast cancer30.2IFNGR1, CYP1A2, IL7R, ADA, LIG4, FABP12
18burkitt's lymphoma30.2ADA, RAG1, IL4, IL7R, LIG4, DCLRE1C
19eosinophilia30.0IGHE, IL5, IL4, IFNG
20alopecia30.0AIRE
21diabetes mellitus30.0AIRE
22hypothyroidism30.0AIRE
23osteomyelitis30.0IFNGR1
24combined cellular and humoral immune defects with granulomas30.0RAG2, RAG1
25lymphopenia30.0IL7R, IL2RG, IL4, IL1RN, IFNG, ADA
26down syndrome30.0AIRE
27adenocarcinoma30.0CYP1A2, ADA
28malaria30.0IFNG, IFNGR1
29pancreatic cancer30.0IL1RN
30hepatitis b30.0IFNG, CYP1A2
31psoriasis30.0IL4, IL5, IFNG
32pulmonary tuberculosis30.0IFNGR1, ADA, IL4, IFNG
33skin disease30.0IL5, IFNG, IL4, IGHE
34melanoma30.0IL4, IFNG, IL7R, IL2RG, ADA
35malignant histiocytosis10.8
36zap70-related severe combined immunodeficiency10.5
37achondroplasia and severe combined immunodeficiency10.5
38t cell deficiency10.5
39severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive10.5
40prostatitis10.5
41thyroiditis10.5
42severe combined immunodeficiency, athabascan type10.5
43acute leukemia10.4
44lung cancer10.4
45graft versus host disease10.4
46severe combined immunodeficiency with sensitivity to ionizing radiation10.4
47x-linked disease10.4
48severe combined immunodeficiency due to lck deficiency10.4
49severe combined immunodeficiency, atypical10.3
50immunodeficiency 810.3

Graphical network of the top 20 diseases related to Omenn Syndrome:



Diseases related to omenn syndrome

Clinical Features for Omenn Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

603554

Clinical synopsis from OMIM:

603554

Symptoms:

48 (show all 28)
  • lymphadenopathy/polyadenopathies
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • dysplastic/thick/grooved fingernails
  • alopecia
  • eosinophils anomalies/hypereosinophilia
  • hyperleukocytosis/leukocytosis
  • severe combined immune deficiency syndrome/scid
  • lymphocytes anomalies
  • absent/decreased/thin eyebrows
  • sepsis severe/septicemia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • hypothyroidy
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • malabsorption/chronic diarrhea/steatorrhea
  • fever/chilling
  • anaemia
  • dry/squaly skin/exfoliation
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • pruritus/itching
  • cutaneous edema
  • metaphyseal anomaly
  • thick skin/pachydermia/orange skin
  • autoimmunity/autoimmune reaction/autoantibodies
  • nephrotic syndrome
  • thyroiditis
  • lymphoma
  • autosomal recessive inheritance

Drugs & Therapeutics for Omenn Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Omenn Syndrome

Drug clinical trials:

Search ClinicalTrials for Omenn Syndrome

Search NIH Clinical Center for Omenn Syndrome

Search CenterWatch for Omenn Syndrome

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Omenn Syndrome

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20GeneTests
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Genetic tests related to Omenn Syndrome:

id Genetic test Affiliating Genes
1 Omenn Syndrome20 RAG2

Anatomical Context for Omenn Syndrome

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32MalaCards
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MalaCards organs/tissues related to Omenn Syndrome:

32
T cells, B cells, Skin, Bone, Bone marrow, Lymph node, Lung, Liver, Thyroid, Thymus

Animal Models for Omenn Syndrome or affiliated genes

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36MGI
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Publications for Omenn Syndrome

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50PubMed
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Articles related to Omenn Syndrome:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience. (24290292)
2013
2
Recombination-activating gene 1 (Rag1)-deficient mice with severe combined immunodeficiency treated with lentiviral gene therapy demonstrate autoimmune Omenn-like syndrome. (24332219)
2013
3
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. (22841008)
2012
4
A double cure: Omenn syndrome and I^ thalassaemia successfully treated with mismatched unrelated donor transplantation. (21602897)
2012
5
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. (21624848)
2011
6
Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. (21771083)
2011
7
Omenn syndrome does not live by V(D)J recombination alone. (22001740)
2011
8
Possible role of Artemis c.512C&gt;G polymorphic variant in Omenn syndrome. (21030322)
2011
9
Prominent eosinophilia but less eosinophil activation in a patient with Omenn syndrome. (20958863)
2010
10
Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. (20547828)
2010
11
Igf-I stimulates in vivo thymopoiesis after stem cell transplantation in a child with Omenn syndrome. (19777327)
2010
12
Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination. (20234091)
2010
13
Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome. (19064334)
2009
14
Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome. (19414857)
2009
15
Matched unrelated bone marrow transplant for Omenn syndrome. (18854956)
2009
16
Novel presentation of Omenn syndrome in association with aniridia. (19178939)
2009
17
Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation. (19246248)
2009
18
Omenn syndrome due to mutation of the RAG2 gene. (19470080)
2009
19
Rapid full engraftment and successful immune reconstitution after allogeneic hematopoietic stem cell transplantation with reduced intensity conditioning in Omenn syndrome. (18992055)
2009
20
Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome. (18505430)
2008
21
A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction. (18768869)
2008
22
Omenn syndrome is associated with mutations in DNA ligase IV. (18845326)
2008
23
Omenn syndrome: inflammation in leaky severe combined immunodeficiency. (18992930)
2008
24
Omenn syndrome with mutation in RAG1 gene. (19011808)
2008
25
Adenosine deaminase deficiency can present with features of Omenn syndrome. (18243287)
2008
26
Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome. (18559672)
2008
27
Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome. (18592361)
2008
28
Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome. (18056378)
2007
29
Omenn syndrome: a rare case of neonatal erythroderma. (17337397)
2007
30
A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. (17476358)
2007
31
Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model. (17476359)
2007
32
Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation. (16763459)
2006
33
Omenn syndrome in an infant with IL7RA gene mutation. (16492442)
2006
34
Omenn syndrome: therapeutic effects of cyclosporin. (16712568)
2006
35
Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome. (16630949)
2006
36
Necrotizing enterocolitis in an infant with Omenn syndrome. (17176792)
2006
37
AIRE deficiency in thymus of 2 patients with Omenn syndrome. (15696198)
2005
38
Novel adopted immunotherapy for mixed chimerism after unrelated cord blood transplantation in Omenn syndrome. (16191096)
2005
39
Omenn syndrome due to ARTEMIS mutations. (15731174)
2005
40
Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection. (15870023)
2005
41
Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency. (15845893)
2005
42
Omenn syndrome in the context of other B cell-negative severe combined immunodeficiencies. (11908269)
2002
43
Reviewing Omenn syndrome. (11795679)
2001
44
The genetic and biochemical basis of Omenn syndrome. (11213808)
2000
45
Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome. (10552957)
1999
46
Omenn syndrome: a disorder of Rag1 and Rag2 genes. (10226883)
1999
47
Oligoclonal expansion of CD45RO+ T lymphocytes in Omenn syndrome. (9258771)
1997
48
Mismatched bone marrow transplantation for Omenn syndrome: a variant of severe combined immunodeficiency. (8535310)
1995
49
Treatment of Omenn syndrome by bone marrow transplantation. (7608815)
1995
50
Severe pulmonary vascular occlusive disease following bone marrow transplantation in Omenn syndrome. (2029913)
1991

Genetic Variations for Omenn Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Omenn Syndrome:

62 (show all 21)
id Symbol AA change Variation ID SNP ID
1DCLRE1Cp.His35AspVAR_023077
2RAG1p.Arg396CysVAR_008886rs104894289
3RAG1p.Arg396HisVAR_008887rs104894291
4RAG1p.Asp429GlyVAR_008888rs104894292
5RAG1p.Arg561HisVAR_008889rs104894284
6RAG1p.Arg561CysVAR_008890rs104894285
7RAG1p.Arg737HisVAR_008891rs104894286
8RAG1p.Leu885ArgVAR_008893rs199474691
9RAG1p.Tyr912CysVAR_008894rs104894290
10RAG1p.Cys328TyrVAR_025971rs121918571
11RAG1p.Arg396LeuVAR_025972rs104894291
12RAG1p.Ser401ProVAR_025973rs199474682
13RAG1p.Met435ValVAR_025976rs141524540
14RAG1p.Arg559SerVAR_025981rs199474681
15RAG1p.Arg624CysVAR_025982rs199474688
16RAG1p.Glu669GlyVAR_025983rs199474689
17RAG1p.Arg975GlnVAR_025987rs150739647
18RAG1p.Leu454GlnVAR_067274rs199474677
19RAG1p.Arg699TrpVAR_067276rs199474676
20RAG2p.Cys41TrpVAR_008895
21RAG2p.Met285ArgVAR_008896

Expression for genes affiliated with Omenn Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Omenn Syndrome

Search GEO for disease gene expression data for Omenn Syndrome.

Pathways for genes affiliated with Omenn Syndrome

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Sources:
52R&D Systems, 53Reactome, 51QIAGEN, 29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 4Cell Signaling Technology
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Pathways related to Omenn Syndrome according to GeneCards/GeneDecks:

(show all 25)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3IL2RG
29.9IFNG, IFNGR1
3
Hide members
9.8IL2RG, IL7R, IL5
49.8IL2RG, IL4, IL5
59.8IL5, IL7R, IL4
6
Hide members
9.7IL2RG, IL4, IFNG
79.7IL4, IL5, IFNG
8
Hide members
9.7IFNG, IL5, IL4
99.7IFNG, IL5, IL4
109.7IFNG, IL5, IL4
11
Development Thrombopoetin signaling via JAK-STAT pathway
Hide members
9.6IFNG, IL1RN, IL4
12
Immune response Bacterial infections in normal airways
Hide members
9.6IL1RN, IFNGR1, IFNG
13
Hide members
9.6IL2RG, IL7R, IL5, IFNGR1
14
Hide members
9.5IL1RN, IL5, IL7R, IL2RG
159.5IFNG, IL5, IL4, IL2RG
169.4IGHE, IL5, IL4, IL2RG
17
Hide members
9.4IL2RG, IL4, IFNGR1, IFNG
18
Hide members
9.4IL2RG, IL4, IFNGR1, IFNG
19
Hide members
9.4IFNG, IFNGR1, IL5, IL4
209.3ADA, RAG2, IL2RG, IL7R, AIRE, DCLRE1C
21
Hide members
9.2IFNG, IFNGR1, IL5, IL4, IL2RG
229.0IFNG, IFNGR1, IL5, IL7R, IL4, IL2RG
23
Hide members
8.9IFNG, IFNGR1, IL1RN, IL5, IL7R, IL2RG
24
Hide members
8.8IFNG, IFNGR1, IGHE, IL5, IL4, IL2RG
25
Hide members
8.6IFNG, IFNGR1, IGHE, IL1RN, IL5, IL7R

Compounds for genes affiliated with Omenn Syndrome

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44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 2BitterDB, 49PharmGKB, 24HMDB
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Compounds related to Omenn Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 86)
idCompoundScoreTop Affiliating Genes
1rolipram44 59 2812.7ADA
2indomethacin44 59 28 1113.7IL5
3hydrocortisone44 2 59 1113.6IGHE
4amphotericin b4410.4ADA, IL1RN
5gm-csf44 2811.4IFNG
6tolnaftate4410.3IL5, IL4
7loteprednol44 1111.3IL5, IL4
8prednisolone44 28 1112.2IL5, IGHE
9Edetic Acid1110.2CYP1A2, ADA
10mometasone44 1111.1IL5, IL4
11omalizumab44 1111.1IGHE, IL5, IL4
12ovomucoid4410.0IL4, IL5, IGHE
13oxatomide4410.0IGHE, CYP1A2, IL5
14glatiramer acetate44 1111.0IL4, IL5, IFNG
15il-124410.0IFNG, IL5, IL4
16nedocromil sodium4410.0IGHE, IL5, IL4
17clarithromycin44 1111.0CYP1A2, IL1RN, IL5
18itraconazole44 1111.0IGHE, IL5, IL4
19caffeine44 49 28 2 11 2415.0CYP1A2, RAG1, RAG2, ADA
20desloratadine44 1111.0IGHE, CYP1A2, IL4
21imiquimod44 28 59 1113.0IFNG, CYP1A2, IL5
22montelukast44 49 28 1113.0IGHE, IL5, IL4
23con a449.9IL4, IL5, IFNG
24polymyxin b449.9IFNG, IL1RN, IL4
25lidocaine44 28 1111.8IL5, CYP1A2, IGHE
26praziquantel44 1110.8IGHE, CYP1A2, IL5, IL4
27azelastine44 1110.8IL4, IL5, CYP1A2, IGHE
28neopterin449.8IFNG, IL1RN, IL4, ADA
29il 10449.8IFNG, IL1RN, IL5, IL4
30budesonide44 49 1111.7IL4, IL5, IGHE, IFNG
31fluticasone propionate44 49 59 1112.7IFNG, IGHE, IL5, IL4
32polyinosinic-polycytidylic acid449.7IL4, IL5, IFNG
33propofol44 49 1111.7IL1RN, CYP1A2, IGHE
34tarc449.7IL4, IL5, IGHE, IFNG
35pentoxifylline44 1110.7IL4, IL1RN, CYP1A2, IFNG
36ionomycin449.7IFNG, IL5, IL7R, IL4, RAG1
37infliximab44 49 1111.7IFNG, IGHE, IL1RN, IL4
38herbimycin a44 5910.7IFNG, IL5, IL7R, IL4
39poly(i-c)449.6IFNG, IL5, IL4
40sb 20358044 5910.5IFNG, AIRE, IL1RN, IL5, IL4
41ivig449.5IFNG, IGHE, IL1RN, IL5, IL4
42isoproterenol44 1110.5IGHE, IL5, IL4, ADA
43methylcellulose449.4IL4, IL5, IFNG
44histamine44 28 2411.2IFNG, IGHE, IL1RN, IL5, IL4, ADA
45allergens449.1IFNG, FABP12, IGHE, IL1RN, IL5, IL4
46cyclosporin a44 28 5911.1IFNG, IGHE, IL1RN, IL5, IL4, IL2RG
47cysteine448.9IFNG, FABP12, IL1RN, IL5, IL4, RAG1
48vegf448.8IGHE, IL1RN, IL5, IL4, ADA, IFNG
49retinoic acid44 249.7IFNG, FABP12, IGHE, CYP1A2, IL1RN, IL5
50dexamethasone44 49 28 1111.4IFNG, FABP12, IGHE, CYP1A2, IL1RN, IL5

GO Terms for genes affiliated with Omenn Syndrome

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16Gene Ontology
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Cellular components related to Omenn Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.3ADA, IL2RG, IL4, IL7R, IFNG

Biological processes related to Omenn Syndrome according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1pre-B cell allelic exclusionGO:00233110.3RAG1, RAG2
2interleukin-7-mediated signaling pathwayGO:03811110.3IL2RG, IL7R
3negative regulation of thymocyte apoptotic processGO:07024410.3ADA, RAG1
4V(D)J recombinationGO:03315110.2LIG4, RAG1, RAG2
5T cell differentiation in thymusGO:03307710.2LIG4, RAG1, RAG2
6positive regulation of T cell differentiation in thymusGO:03308910.1ADA, IL7R
7positive regulation of isotype switching to IgG isotypesGO:04830410.0IL4, IFNG
8positive regulation of B cell proliferationGO:03089010.0ADA, IL4, IL5
9B cell differentiationGO:03018310.0RAG2, RAG1, IL4, DCLRE1C
10positive regulation of MHC class II biosynthetic processGO:04534810.0IFNG, IL4
11regulation of interferon-gamma-mediated signaling pathwayGO:0603349.9IFNGR1, IFNG
12positive regulation of chemokine biosynthetic processGO:0450809.8IL4, IFNG
13defense response to protozoanGO:0428329.6IL4, IFNG
14immune responseGO:0069558.8RAG1, IL2RG, IL4, IL7R, IL5, IL1RN

Molecular functions related to Omenn Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1interleukin-7 receptor activityGO:00491710.1IL2RG, IL7R

Products for genes affiliated with Omenn Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Omenn Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet