MCID: OMN001
MIFTS: 66

Omenn Syndrome malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases categories
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Summaries for Omenn Syndrome

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8Disease Ontology, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 severe combined immunodeficiency and eosinophilia, and has symptoms including lymphoma, absent/decreased/thin eyebrows and lymphadenopathy/polyadenopathies. An important gene associated with Omenn Syndrome is RAG2 (recombination activating gene 2), and among its related pathways are Non-homologous end-joining and IL-7 Signaling and its Primary Biological Effects in Different Immune Cell Types. The drug pegademase bovine and the compounds busulfan and cytidine have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and skin, and related mouse phenotypes are vision/eye and craniofacial.

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

Description from OMIM:47 603554

Aliases & Classifications for Omenn Syndrome

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 47OMIM, 10DISEASES, 45Novoseek, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 25ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 43 20 47 10 45 49
severe combined immunodeficiency with hypereosinophilia 43
reticuloendotheliosis familial with eosinophilia 43
combined immunodeficiency with hypereosinophilia 49
histiocytic medullary reticulosis 62
severe combined immunodeficiency 62


External Ids:

Disease Ontology8 DOID:0060010
OMIM47 603554
ICD10 via Orphanet26 D81.8
SNOMED-CT via Orphanet59 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 59)
idRelated DiseaseScoreTop Affiliating Genes
1severe combined immunodeficiency30.6RAG2, DCLRE1C, ADA, IL4, IL5, IL7R
2eosinophilia30.2IL4, FOXP3, IL5
3lymphopenia30.0ADA, FOXP3, IL4, IL7R, IL2RG
4hematopoietic stem cell transplantation10.2
5primary immunodeficiency disease10.1LIG4
6kimura disease10.1IL5
7malaria10.1IFNGR1
8hypoparathyroidism10.1AIRE
9combined cellular and humoral immune defects with granulomas10.1RAG1, RAG2
10sinusitis10.1IL5
11keratoconjunctivitis10.1AIRE, IL5
12egg allergy10.1IL4, IL5
13reticular dysgenesis10.1
14aniridia10.1
15adenosine deaminase deficiency10.1
16hemophagocytic lymphohistiocytosis, familial, 410.1
17nijmegen breakage syndrome10.1DCLRE1C, LIG4
18intrinsic asthma10.1IL5, IL4
19allergic bronchopulmonary aspergillosis10.1IL4, IL5
20allergic conjunctivitis10.1IL5, IL4
21cutaneous leishmaniasis10.1IL5, IL4
22pulmonary eosinophilia10.1IL4, IL5
23autoimmune polyendocrine syndrome10.1AIRE, FOXP3
24allergic rhinitis10.1IL4, IL5
25metaphyseal dysplasia10.1AIRE, RMRP
26schimke immunoosseous dysplasia10.1LIG4, AIRE
27vernal keratoconjunctivitis10.1IL4, IL5
28sezary's disease10.1IL5, IL4
29ataxia telangiectasia10.1DCLRE1C, LIG4, RAG1
30autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.1CYP1A2, AIRE
31immunodeficiency, common variable, 710.1IL4, IFNGR1
32leishmaniasis10.0IFNGR1, IL5, IL4
33schistosomiasis10.0IL4, IL5, IFNGR1
34pulmonary tuberculosis10.0IFNGR1, ADA, IL4
35rhinitis10.0IL5, IL4
36food allergy10.0IL5, IL4, FOXP3
37allergic asthma10.0IL5, IFNGR1, IL4
38hypersensitivity reaction type ii disease10.0FOXP3, IL4, AIRE
39dermatitis10.0FOXP3, IL4, IL5
40mycosis fungoides10.0IL5, ADA
41autoimmune hepatitis10.0CYP1A2, AIRE
42myasthenia gravis10.0AIRE, IL4
43tuberculosis10.0IL4, ADA, IFNGR1
44galactosemia10.0IFNGR1, CYP1A2, AIRE
45systemic lupus erythematosus10.0IFNGR1, ADA, IL4
46t-cell leukemia10.0ADA, RAG2, RAG1, IL5, FOXP3
47acute lymphocytic leukemia10.0RAG1, IL7R, ADA
48asthma10.0FOXP3, IL4, IL5, CYP1A2
49cutaneous t cell lymphoma10.0IL7R, ADA, IL5, IL4
50influenza10.0IL7R, ADA, CYP1A2

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



Diseases related to omenn syndrome

Symptoms for Omenn Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

603554

Clinical features from OMIM:

603554

Symptoms:

49 (show all 28)
  • lymphoma
  • absent/decreased/thin eyebrows
  • lymphadenopathy/polyadenopathies
  • dysplastic/thick/grooved fingernails
  • eosinophils anomalies/hypereosinophilia
  • hyperleukocytosis/leukocytosis
  • severe combined immune deficiency syndrome/scid
  • lymphocytes anomalies
  • alopecia
  • 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
  • ground-glass/reticular/alveolar/interstitial lung/pulmonary opacity
  • autosomal recessive inheritance

Drugs & Therapeutics for Omenn Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Omenn Syndrome

Search NIH Clinical Center for Omenn Syndrome

Inferred drug relations via UMLS62/NDF-RT41:

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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33MalaCards
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MalaCards organs/tissues related to Omenn Syndrome:

33
T cells, B cells, Skin, Bone marrow, Bone, Lymph node, Liver, Lung, Thyroid, Thymus

Animal Models for Omenn Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Omenn Syndrome:

37 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.1IL4, AIRE, CHD7, RAG1, FOXP3
2MP:00053828.1IL4, LIG4, CHD7, FOXP3, IL2RG, RAG2
3MP:00053678.0ADA, FOXP3, IL4, RAG1, IFNGR1
4MP:00053908.0RAG2, RAG1, IL4, IFNGR1, CHD7, IL2RG
5MP:00036317.8AIRE, LIG4, CHD7, IFNGR1, IL4, RAG1
6MP:00030127.8IL2RG, AIRE, CYP1A2, FOXP3, IL4
7MP:00020067.7RAG2, AIRE, CYP1A2, LIG4, IFNGR1, IL5
8MP:00053857.4CYP1A2, RAG2, CHD7, RAG1, FOXP3, IFNGR1
9MP:00028737.2IL4, RMRP, RAG2, RAG1, IL2RG, IL7R
10MP:00053787.0IL5, IL4, AIRE, LIG4, ADA, CHD7
11MP:00053796.9AIRE, CYP1A2, CHD7, FOXP3, IFNGR1, IL4
12MP:00053866.7AIRE, RAG1, RAG2, IL5, IFNGR1, FOXP3
13MP:00053886.6CHD7, RAG1, RAG2, IL2RG, IL5, ADA
14MP:00053816.5CHD7, IL5, IL2RG, RAG1, LIG4, RAG2
15MP:00053896.4FOXP3, CHD7, ADA, RAG2, AIRE, LIG4
16MP:00053706.4AIRE, IL5, RAG1, LIG4, ADA, FOXP3
17MP:00053846.1FOXP3, IL4, ADA, RAG2, RAG1, IL2RG
18MP:00107685.8RMRP, RAG2, RAG1, IL4, IL2RG, IFNGR1
19MP:00053765.7ADA, IL2RG, IFNGR1, FOXP3, AIRE, CYP1A2
20MP:00053975.1FOXP3, IL4, ADA, LIG4, DCLRE1C, CYP1A2
21MP:00053875.1AIRE, CYP1A2, IL7R, DCLRE1C, LIG4, IL2RG

Publications for Omenn Syndrome

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52PubMed
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Articles related to Omenn Syndrome:

(show top 50)    (show all 69)
idTitleAuthorsYear
1
First reported case of Omenn syndrome in a patient with reticular dysgenesis. (23014587)
2013
2
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience. (24290292)
2013
3
Anti-CD3I/ mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications. (22723555)
2012
4
From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family. (22882342)
2012
5
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. (22841008)
2012
6
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. (21624848)
2011
7
Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. (21771083)
2011
8
Omenn syndrome does not live by V(D)J recombination alone. (22001740)
2011
9
Possible role of Artemis c.512C&gt;G polymorphic variant in Omenn syndrome. (21030322)
2011
10
Prominent eosinophilia but less eosinophil activation in a patient with Omenn syndrome. (20958863)
2010
11
Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. (20547828)
2010
12
Igf-I stimulates in vivo thymopoiesis after stem cell transplantation in a child with Omenn syndrome. (19777327)
2010
13
Decrease of skin infiltrating and circulating CCR10+ T cells coincides with clinical improvement after topical tacrolimus in Omenn syndrome. (19609312)
2010
14
Defect of regulatory T cells in patients with Omenn syndrome. (20109747)
2010
15
Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells. (19767069)
2009
16
Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency. (18822103)
2009
17
Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome. (19064334)
2009
18
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
19
Matched unrelated bone marrow transplant for Omenn syndrome. (18854956)
2009
20
Novel presentation of Omenn syndrome in association with aniridia. (19178939)
2009
21
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
22
Omenn syndrome due to mutation of the RAG2 gene. (19470080)
2009
23
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. (19912631)
2009
24
A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction. (18768869)
2008
25
Omenn syndrome is associated with mutations in DNA ligase IV. (18845326)
2008
26
Omenn syndrome: inflammation in leaky severe combined immunodeficiency. (18992930)
2008
27
Omenn syndrome with mutation in RAG1 gene. (19011808)
2008
28
Adenosine deaminase deficiency can present with features of Omenn syndrome. (18243287)
2008
29
Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome. (18056378)
2007
30
Murine models of Omenn syndrome. (17476351)
2007
31
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. (17572155)
2007
32
Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. (17075247)
2006
33
Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation. (16763459)
2006
34
AIRE deficiency in thymus of 2 patients with Omenn syndrome. (15696198)
2005
35
Novel adopted immunotherapy for mixed chimerism after unrelated cord blood transplantation in Omenn syndrome. (16191096)
2005
36
Omenn syndrome due to ARTEMIS mutations. (15731174)
2005
37
Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience. (15908971)
2005
38
Cardiac thrombus in Omenn syndrome. (16088419)
2005
39
Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection. (15870023)
2005
40
Non-myeloablative stem cell transplantation for severe combined immunodeficiency--Omenn syndrome. (15086425)
2004
41
Omenn syndrome in the context of other B cell-negative severe combined immunodeficiencies. (11908269)
2002
42
Reviewing Omenn syndrome. (11795679)
2001
43
Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. (10606976)
2000
44
The genetic and biochemical basis of Omenn syndrome. (11213808)
2000
45
A preterm baby with Omenn syndrome. (11014463)
2000
46
Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome. (10552957)
1999
47
Omenn syndrome: a disorder of Rag1 and Rag2 genes. (10226883)
1999
48
Partial V(D)J recombination activity leads to Omenn syndrome. (9630231)
1998
49
Mismatched bone marrow transplantation for Omenn syndrome: a variant of severe combined immunodeficiency. (8535310)
1995
50
Severe pulmonary vascular occlusive disease following bone marrow transplantation in Omenn syndrome. (2029913)
1991

Variations for Omenn Syndrome

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Omenn Syndrome:

64 (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

Clinvar genetic disease variations for Omenn Syndrome:

1 (show all 21)
id Gene Name Type Significance SNP ID Assembly Location
1RAG2NM_000536.3(RAG2): c.686G> A (p.Arg229Gln)single nucleotide variantPathogenicrs121917894GRCh37Chr 11, 36615033: 36615033
2RAG2NM_000536.3(RAG2): c.123C> G (p.Cys41Trp)single nucleotide variantPathogenicrs121917895GRCh37Chr 11, 36615596: 36615596
3RAG2NM_000536.3(RAG2): c.854T> G (p.Met285Arg)single nucleotide variantPathogenicrs121917896GRCh37Chr 11, 36614865: 36614865
4RAG2NM_000536.3(RAG2): c.283G> A (p.Gly95Arg)single nucleotide variantPathogenicrs36001797GRCh37Chr 11, 36615436: 36615436
5RAG2NM_000536.3(RAG2): c.115A> G (p.Arg39Gly)single nucleotide variantPathogenicrs121917897GRCh37Chr 11, 36615604: 36615604
6RAG1NM_000448.2(RAG1): c.1682G> A (p.Arg561His)single nucleotide variantPathogenicrs104894284GRCh37Chr 11, 36596536: 36596536
7RAG1NM_000448.2(RAG1): c.1186C> T (p.Arg396Cys)single nucleotide variantPathogenicrs104894289GRCh37Chr 11, 36596040: 36596040
8RAG1NM_000448.2(RAG1): c.2735A> G (p.Tyr912Cys)single nucleotide variantPathogenicrs104894290GRCh37Chr 11, 36597589: 36597589
9RAG1NM_000448.2(RAG1): c.1187G> A (p.Arg396His)single nucleotide variantPathogenicrs104894291GRCh37Chr 11, 36596041: 36596041
10RAG1NM_000448.2(RAG1): c.1286A> G (p.Asp429Gly)single nucleotide variantPathogenicrs104894292GRCh37Chr 11, 36596140: 36596140
11RAG1NM_000448.2(RAG1): c.1681C> T (p.Arg561Cys)single nucleotide variantPathogenicrs104894285GRCh37Chr 11, 36596535: 36596535
12RAG1NM_000448.2(RAG1): c.2210G> A (p.Arg737His)single nucleotide variantPathogenicrs104894286GRCh37Chr 11, 36597064: 36597064
13RAG1RAG1, 13-BP DEL, NT1723deletionPathogenic
14RAG1RAG1, 2-BP DEL, 368AAdeletionPathogenic
15RAG1RAG1, 1-BP DEL, 887AdeletionPathogenic
16RAG1RAG1, 1-BP DEL, 631TdeletionPathogenic
17RAG1NM_000448.2(RAG1): c.2210G> A (p.Arg737His)single nucleotide variantPathogenicrs104894286GRCh37Chr 11, 36597064: 36597064
18RAG1NM_000448.2(RAG1): c.983G> A (p.Cys328Tyr)single nucleotide variantPathogenicrs121918571GRCh37Chr 11, 36595837: 36595837
19RAG1NM_000448.2(RAG1): c.1566G> T (p.Trp522Cys)single nucleotide variantLikely pathogenic, Pathogenicrs193922461GRCh37Chr 11, 36596420: 36596420
20DCLRE1CNM_001033855.2(DCLRE1C): c.103C> G (p.His35Asp)single nucleotide variantPathogenicrs121908159GRCh37Chr 10, 14995907: 14995907
21DCLRE1CNM_001033855.2(DCLRE1C): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs121908158GRCh37Chr 10, 14996008: 14996008

Expression for genes affiliated with Omenn Syndrome

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2BioGPS, 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:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 60Thomson Reuters, 54R&D Systems, 53QIAGEN, 55Reactome, 5Cell Signaling Technology
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Pathways related to Omenn Syndrome according to GeneCards/GeneDecks:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Non-homologous end joining38
DNA damage NHEJ mechanisms of DSBs repair60
10.0DCLRE1C, LIG4
2
Show member pathways
9.8IL2RG, IL7R
3
Show member pathways
PLK2 and PLK4 events38
Polo-like kinase signaling events in the cell cycle38
9.6IL7R, RAG1, RAG2
49.6IL2RG, IL4
59.5IL4, IL5
69.5IL5, IL4
79.5IL5, IL4
8
Show member pathways
9.4IL2RG, IL7R, IL5
9
Show member pathways
9.3FOXP3, IL2RG
10
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
9.3IL4, IL7R, IL2RG
119.2IL4, IL5, IL2RG
129.2IL2RG, IL5, IL4
139.2IL2RG, IL5, IL4
149.2IL7R, IL5, IL4
158.9RAG1, IL4, FOXP3
16
Show member pathways
8.9IL5, IL4, IFNGR1
17
Show member pathways
8.8IL4, IL5, IL7R, IL2RG
18
Show member pathways
8.8IL4, IL5, IL7R, IL2RG
19
Show member pathways
IL2 signaling events mediated by STAT538
8.8IL2RG, IL4, FOXP3
20
Show member pathways
8.7IFNGR1, IL5, IL7R, IL2RG
21
Show member pathways
Calcium signaling in the CD4+ TCR pathway38
8.7FOXP3, IL4, IL5
228.4RAG2, RAG1, IL2RG, IL7R, ADA, DCLRE1C
23
Show member pathways
Type III interferon signaling38
8.2IFNGR1, IL4, IL5, IL7R, IL2RG
24
Show member pathways
8.2IFNGR1, IL4, IL5, IL7R, IL2RG
25
Show member pathways
8.2IFNGR1, IL4, IL5, IL7R, IL2RG
26
Show member pathways
7.7FOXP3, IFNGR1, IL4, IL5, IL2RG

Compounds for genes affiliated with Omenn Syndrome

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Sources:
45Novoseek, 51PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR, 61Tocris Bioscience, 3BitterDB
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Compounds related to Omenn Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 52)
idCompoundScoreTop Affiliating Genes
1busulfan45 51 1112.3ADA, DCLRE1C
2cytidine45 24 1112.1RAG1, ADA, RAG2
3cilostazol45 1111.0ADA, CYP1A2
4tolnaftate459.9IL5, IL4
5loteprednol45 1110.9IL4, IL5
6mometasone45 1110.9IL5, IL4
7omalizumab45 1110.9IL5, IL4
82-chlorodeoxyadenosine459.9IL5, ADA
9oxatomide459.9IL5, CYP1A2
10ranitidine45 29 24 1112.9ADA, CYP1A2
11ovomucoid459.9IL5, IL4
12c-d4t459.9IL4, IL5
13terbinafine45 51 1111.9IL5, CYP1A2
14epinastine45 1110.9IL4, IL5
15roxithromycin45 29 1111.9IL5, CYP1A2
16nedocromil sodium459.9IL5, IL4
17pranlukast45 29 1111.9IL4, IL5
18glatiramer acetate45 1110.9IL5, IL4
19mk 57161 4510.9IL4, IL5
20salmeterol45 51 29 1112.8IL5, IL4
21desloratadine45 1110.8CYP1A2, IL4
22itraconazole45 1110.8IL5, IL4
23clarithromycin45 1110.8IL5, CYP1A2
24il-12459.8IL4, IL5
25imiquimod45 61 29 1112.8CYP1A2, IL5
26montelukast45 51 29 1112.8IL5, IL4
27miconazole29 45 1111.7IL5, CYP1A2
28gm-csf45 2910.7IL5, IL4
29trifluoperazine45 29 51 1112.7CYP1A2, ADA
30amphotericin b459.7IL5, IL4, ADA
31bleomycin45 1110.7DCLRE1C, IL5, IL4
32rolipram45 61 2911.6IL5, ADA, IL4
33con a459.6IL4, IL5
34theophylline45 29 24 1112.6IL5, CYP1A2, ADA
35caffeine45 29 3 51 24 1114.6CYP1A2, ADA, RAG1, RAG2
36budesonide45 51 1111.6IL4, IL5
37lidocaine45 29 1111.6CYP1A2, IL5
38isoproterenol45 1110.5IL4, ADA, IL5
39herbimycin a45 6110.5IL7R, IL4, IL5
40praziquantel45 1110.4CYP1A2, IL4, IL5
41azelastine45 1110.4CYP1A2, IL4, IL5
42carbamazepine45 51 1111.4IL5, IL4, CYP1A2
43fluticasone propionate45 51 61 1112.4IL4, IL5
44ionomycin459.3IL5, IL4, IL7R, RAG1
45imatinib45 51 1111.3IL5, IL4, CYP1A2
46sb 20358045 6110.1IL5, AIRE, IL4
47indomethacin45 29 61 1111.9IL4, IL5, ADA
48dexamethasone45 51 29 1111.8CYP1A2, ADA, IL5, IL4, RAG1
49cyclosporin a45 29 6110.5IL5, FOXP3, ADA, IL4, IL2RG
50tyrosine458.2IL2RG, IL4, IL7R, IFNGR1, AIRE, IL5

GO Terms for genes affiliated with Omenn Syndrome

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Sources:
16Gene Ontology
See all sources

Cellular components related to Omenn Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:0098979.0IL2RG, IL7R, IL4, ADA

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1pre-B cell allelic exclusionGO:00233110.2RAG2, RAG1
2negative regulation of thymocyte apoptotic processGO:07024410.1RAG1, ADA
3interleukin-7-mediated signaling pathwayGO:03811110.1IL2RG, IL7R
4V(D)J recombinationGO:03315110.0LIG4, RAG2, RAG1
5T cell differentiation in thymusGO:03307710.0LIG4, RAG2, RAG1
6positive regulation of T cell differentiation in thymusGO:03308910.0ADA, IL7R
7nucleic acid phosphodiester bond hydrolysisGO:0903059.7DCLRE1C, RAG1
8T cell differentiationGO:0302179.7CHD7, IL7R
9immunoglobulin V(D)J recombinationGO:0331529.6LIG4, FOXP3
10B cell differentiationGO:0301839.5DCLRE1C, IL4, RAG1, RAG2
11positive regulation of B cell proliferationGO:0308909.5IL5, IL4, ADA
12T cell homeostasisGO:0430299.4RAG1, FOXP3
13T cell activationGO:0421109.4FOXP3, ADA
14negative regulation of chronic inflammatory responseGO:0026779.3FOXP3, IL4
15immune responseGO:0069558.5IL2RG, AIRE, IL4, IL5, IL7R, RAG1
16positive regulation of transcription, DNA-templatedGO:0458938.3AIRE, FOXP3, IL5, IL4

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

idNameGO IDScoreTop Affiliating Genes
1interleukin-7 receptor activityGO:0049179.7IL2RG, IL7R
2chromatin bindingGO:0036828.6AIRE, CHD7, FOXP3, RAG2
3protein bindingGO:0055155.5AIRE, LIG4, ADA, CHD7, FOXP3, IFNGR1

Products for genes affiliated with Omenn Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Omenn Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet