MCID: OMN001
MIFTS: 58

Omenn Syndrome malady

Genetic diseases, Rare diseases, Blood diseases, Immune diseases categories

Aliases & Classifications for Omenn Syndrome

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 10DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Omenn Syndrome:

Name: Omenn Syndrome 46 8 9 42 20 10 44 48
Combined Immunodeficiency with Hypereosinophilia 42 48
Severe Combined Immunodeficiency with Hypereosinophilia 42
 
Reticuloendotheliosis, Familial, with Eosinophilia 61
Reticuloendotheliosis Familial with Eosinophilia 42
Histiocytic Medullary Reticulosis 61


Classifications:



Characteristics (Orphanet epidemiological data):

48
omenn syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

OMIM46 603554
Disease Ontology8 DOID:0060010
Orphanet48 39041
ICD10 via Orphanet26 D81.8

Summaries for Omenn Syndrome

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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 based summary: Omenn Syndrome, also known as combined immunodeficiency with hypereosinophilia, is related to eosinophilia and severe combined immunodeficiency, and has symptoms including alopecia, malabsorption and hepatomegaly. 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 compounds busulfan and cytidine have been mentioned in the context of this disorder. Affiliated tissues include t cells, skin and b cells, 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:64 Omenn syndrome is an autosomal recessive severe combined immunodeficiency associated with hypomorphic... more...

Description from OMIM:46 603554

Related Diseases for Omenn Syndrome

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Diseases related to Omenn Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1eosinophilia30.4IL4, FOXP3, IL5
2severe combined immunodeficiency29.6RAG2, DCLRE1C, ADA, IL4, IL5, IL7R
3lymphopenia29.5ADA, FOXP3, IL4, IL7R, IL2RG
4primary immunodeficiency disease10.5LIG4
5kimura disease10.5IL5
6malaria10.5IFNGR1
7hypoparathyroidism10.5AIRE
8combined cellular and humoral immune defects with granulomas10.4RAG1, RAG2
9sinusitis10.4IL5
10keratoconjunctivitis10.4AIRE, IL5
11egg allergy10.4IL4, IL5
12nijmegen breakage syndrome10.4DCLRE1C, LIG4
13intrinsic asthma10.4IL5, IL4
14allergic bronchopulmonary aspergillosis10.4IL4, IL5
15allergic conjunctivitis10.4IL5, IL4
16cutaneous leishmaniasis10.3IL5, IL4
17hematopoietic stem cell transplantation10.3
18pulmonary eosinophilia10.3IL4, IL5
19autoimmune polyendocrine syndrome10.3AIRE, FOXP3
20allergic rhinitis10.3IL4, IL5
21metaphyseal dysplasia10.3AIRE, RMRP
22autosomal recessive disease10.3LIG4, AIRE
23vernal keratoconjunctivitis10.3IL4, IL5
24sezary's disease10.3IL5, IL4
25anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.3AIRE, ADA
26ataxia-telangiectasia10.3DCLRE1C, LIG4, RAG1
27autoimmune polyendocrine syndrome type 110.3CYP1A2, AIRE
28dermatitis10.2FOXP3, IL4
29leishmaniasis10.2IFNGR1, IL5, IL4
30schistosomiasis10.2IL4, IL5, IFNGR1
31pulmonary tuberculosis10.2IFNGR1, ADA, IL4
32rhinitis10.2IL5, IL4
33food allergy10.2IL5, IL4, FOXP3
34allergic asthma10.2IL5, IFNGR1, IL4
35hypersensitivity reaction type ii disease10.2FOXP3, IL4, AIRE
36mycosis fungoides10.1IL5, ADA
37autoimmune hepatitis10.1CYP1A2, AIRE
38reticular dysgenesis10.1
39hemophagocytic lymphohistiocytosis, familial, 110.1
40aniridia10.1
41adenosine deaminase deficiency10.1
42myasthenia gravis10.1AIRE, IL4
43tuberculosis10.0IL4, ADA, IFNGR1
44galactosemia10.0IFNGR1, CYP1A2, AIRE
45systemic lupus erythematosus10.0IFNGR1, ADA, IL4
46t-cell leukemia10.0ADA, RAG2, RAG1, IL5, FOXP3
47leukemia, acute lymphoblastic9.9RAG1, IL7R, ADA
48colitis9.9IL7R, FOXP3, IL4
49asthma9.9FOXP3, IL4, IL5, CYP1A2
50cutaneous t cell lymphoma9.9IL7R, ADA, IL5, IL4

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



Diseases related to omenn syndrome

Symptoms for Omenn Syndrome

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Symptoms by clinical synopsis from OMIM:

603554

Clinical features from OMIM:

603554

Symptoms:

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

HPO human phenotypes related to Omenn Syndrome:

(show all 44)
id Description Frequency HPO Source Accession
1 alopecia hallmark (90%) HP:0001596
2 malabsorption hallmark (90%) HP:0002024
3 hepatomegaly hallmark (90%) HP:0002240
4 lymphadenopathy hallmark (90%) HP:0002716
5 abnormality of lymphocytes hallmark (90%) HP:0004332
6 severe combined immunodeficiency hallmark (90%) HP:0004430
7 dry skin typical (50%) HP:0000958
8 edema typical (50%) HP:0000969
9 pruritus typical (50%) HP:0000989
10 thickened skin typical (50%) HP:0001072
11 splenomegaly typical (50%) HP:0001744
12 abnormality of eosinophils typical (50%) HP:0001879
13 leukocytosis typical (50%) HP:0001974
14 abnormality of temperature regulation typical (50%) HP:0004370
15 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
16 nephrotic syndrome occasional (7.5%) HP:0000100
17 hypothyroidism occasional (7.5%) HP:0000821
18 abnormality of the metaphyses occasional (7.5%) HP:0000944
19 abnormality of the fingernails occasional (7.5%) HP:0001231
20 anemia occasional (7.5%) HP:0001903
21 lymphoma occasional (7.5%) HP:0002665
22 autoimmunity occasional (7.5%) HP:0002960
23 thyroiditis occasional (7.5%) HP:0100646
24 sepsis occasional (7.5%) HP:0100806
25 autosomal recessive inheritance HP:0000007
26 hypoplasia of the thymus HP:0000778
27 erythroderma HP:0001019
28 thickened skin HP:0001072
29 failure to thrive HP:0001508
30 alopecia HP:0001596
31 splenomegaly HP:0001744
32 thrombocytopenia HP:0001873
33 eosinophilia HP:0001880
34 anemia HP:0001903
35 diarrhea HP:0002014
36 pneumonia HP:0002090
37 hepatomegaly HP:0002240
38 lymphadenopathy HP:0002716
39 recurrent bacterial infections HP:0002718
40 recurrent fungal infections HP:0002841
41 hypoproteinemia HP:0003075
42 recurrent viral infections HP:0004429
43 severe b lymphocytopenia HP:0005365
44 b lymphocytopenia HP:0010976

Drugs & Therapeutics for Omenn Syndrome

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Drug clinical trials:

Search ClinicalTrials for Omenn Syndrome

Search NIH Clinical Center for Omenn Syndrome

Genetic Tests for Omenn Syndrome

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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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MalaCards organs/tissues related to Omenn Syndrome:

31
T cells, Skin, B cells, Bone marrow, Bone, Lymph node, Thymus, Liver, Lung, Thyroid

Animal Models for Omenn Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Omenn Syndrome:

35 (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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Articles related to Omenn Syndrome:

(show top 50)    (show all 75)
idTitleAuthorsYear
1
Compound heterozygous mutation of rag1 leading to omenn syndrome. (25849362)
2015
2
First reported case of Omenn syndrome in a patient with reticular dysgenesis. (23014587)
2013
3
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience. (24290292)
2013
4
Anti-CD3I/ mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications. (22723555)
2012
5
From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family. (22882342)
2012
6
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. (22841008)
2012
7
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. (21624848)
2011
8
Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. (21771083)
2011
9
Omenn syndrome does not live by V(D)J recombination alone. (22001740)
2011
10
Possible role of Artemis c.512C&gt;G polymorphic variant in Omenn syndrome. (21030322)
2011
11
Prominent eosinophilia but less eosinophil activation in a patient with Omenn syndrome. (20958863)
2010
12
Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. (20547828)
2010
13
Igf-I stimulates in vivo thymopoiesis after stem cell transplantation in a child with Omenn syndrome. (19777327)
2010
14
Decrease of skin infiltrating and circulating CCR10+ T cells coincides with clinical improvement after topical tacrolimus in Omenn syndrome. (19609312)
2010
15
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
16
Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells. (19767069)
2009
17
Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency. (18822103)
2009
18
Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome. (19064334)
2009
19
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
20
Matched unrelated bone marrow transplant for Omenn syndrome. (18854956)
2009
21
Novel presentation of Omenn syndrome in association with aniridia. (19178939)
2009
22
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
23
Omenn syndrome due to mutation of the RAG2 gene. (19470080)
2009
24
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. (19912631)
2009
25
A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction. (18768869)
2008
26
Omenn syndrome is associated with mutations in DNA ligase IV. (18845326)
2008
27
Omenn syndrome: inflammation in leaky severe combined immunodeficiency. (18992930)
2008
28
Omenn syndrome with mutation in RAG1 gene. (19011808)
2008
29
Adenosine deaminase deficiency can present with features of Omenn syndrome. (18243287)
2008
30
Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome. (18056378)
2007
31
Murine models of Omenn syndrome. (17476351)
2007
32
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. (17572155)
2007
33
Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. (17075247)
2006
34
Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation. (16763459)
2006
35
AIRE deficiency in thymus of 2 patients with Omenn syndrome. (15696198)
2005
36
Novel adopted immunotherapy for mixed chimerism after unrelated cord blood transplantation in Omenn syndrome. (16191096)
2005
37
Omenn syndrome due to ARTEMIS mutations. (15731174)
2005
38
Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience. (15908971)
2005
39
Cardiac thrombus in Omenn syndrome. (16088419)
2005
40
Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection. (15870023)
2005
41
Non-myeloablative stem cell transplantation for severe combined immunodeficiency--Omenn syndrome. (15086425)
2004
42
Omenn syndrome in the context of other B cell-negative severe combined immunodeficiencies. (11908269)
2002
43
Reviewing Omenn syndrome. (11795679)
2001
44
Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. (10606976)
2000
45
The genetic and biochemical basis of Omenn syndrome. (11213808)
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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UniProtKB/Swiss-Prot genetic disease variations for Omenn Syndrome:

63 (show all 28)
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.Arg410GlnVAR_025974rs199474684
14RAG1p.Val433MetVAR_025975rs199474679
15RAG1p.Met435ValVAR_025976rs141524540
16RAG1p.Ala444ValVAR_025977rs199474685
17RAG1p.Arg474HisVAR_025978rs199474686
18RAG1p.Arg507TrpVAR_025979rs104894298
19RAG1p.Trp522CysVAR_025980rs193922461
20RAG1p.Arg559SerVAR_025981rs199474681
21RAG1p.Arg624CysVAR_025982rs199474688
22RAG1p.Glu669GlyVAR_025983rs199474689
23RAG1p.His753LeuVAR_025984rs199474687
24RAG1p.Arg975GlnVAR_025987rs150739647
25RAG1p.Leu454GlnVAR_067274rs199474677
26RAG1p.Arg699TrpVAR_067276rs199474676
27RAG2p.Cys41TrpVAR_008895
28RAG2p.Met285ArgVAR_008896

Clinvar genetic disease variations for Omenn Syndrome:

5 (show all 23)
id Gene Variation 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
20RAG1NM_000448.2(RAG1): c.2904C> A (p.Asn968Lys)single nucleotide variantLikely pathogenicrs193922463GRCh37Chr 11, 36597758: 36597758
21RAG2NM_000536.3(RAG2): c.1247G> T (p.Trp416Leu)single nucleotide variantLikely pathogenicrs193922572GRCh37Chr 11, 36614472: 36614472
22DCLRE1CNM_001033855.2(DCLRE1C): c.103C> G (p.His35Asp)single nucleotide variantPathogenicrs121908159GRCh37Chr 10, 14995907: 14995907
23DCLRE1CNM_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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Search GEO for disease gene expression data for Omenn Syndrome.

Pathways for genes affiliated with Omenn Syndrome

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Pathways related to Omenn Syndrome according to GeneCards Suite gene sharing:

(show all 26)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Non-homologous end joining36
DNA damage NHEJ mechanisms of DSBs repair59
10.0LIG4, DCLRE1C
2
Show member pathways
9.8IL2RG, IL7R
3
Show member pathways
PLK2 and PLK4 events36
Polo-like kinase signaling events in the cell cycle36
9.6RAG1, IL7R, RAG2
49.6IL2RG, IL4
59.5IL4, IL5
69.5IL5, IL4
79.5IL4, IL5
8
Show member pathways
9.4IL7R, IL5, IL2RG
9
Show member pathways
9.3IL2RG, FOXP3
10
Show member pathways
IL-9 Signaling Pathway36
Development Thrombopoietin regulated cell processes59
IL-7 Signaling Pathway36
Immune response IL 9 signaling pathway59
9.3IL2RG, IL7R, IL4
119.2IL4, IL5, IL2RG
129.2IL4, IL2RG, IL5
139.2IL2RG, IL4, IL5
149.2IL5, IL7R, IL4
158.9FOXP3, IL4, RAG1
16
Show member pathways
8.9IL4, IL5, IFNGR1
17
Show member pathways
8.8IL7R, IL2RG, IL4, IL5
18
Show member pathways
8.8IL2RG, IL7R, IL5, IL4
19
Show member pathways
IL2 signaling events mediated by STAT536
8.8FOXP3, IL2RG, IL4
20
Show member pathways
8.7IL7R, IL5, IL2RG, IFNGR1
21
Show member pathways
Calcium signaling in the CD4+ TCR pathway36
8.7IL5, FOXP3, IL4
228.4IL2RG, AIRE, DCLRE1C, ADA, IL7R, RAG1
23
Show member pathways
8.2IL5, IL4, IL7R, IL2RG, IFNGR1
24
Show member pathways
8.2IL4, IFNGR1, IL2RG, IL7R, IL5
25
Show member pathways
Type III interferon signaling36
8.2IL2RG, IL7R, IL5, IL4, IFNGR1
26
Show member pathways
7.7IFNGR1, FOXP3, IL4, IL5, IL2RG

Compounds for genes affiliated with Omenn Syndrome

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Compounds related to Omenn Syndrome according to GeneCards Suite gene sharing:

(show top 50)    (show all 52)
idCompoundScoreTop Affiliating Genes
1busulfan44 50 1112.3ADA, DCLRE1C
2cytidine44 24 1112.1RAG1, ADA, RAG2
3cilostazol44 1111.0ADA, CYP1A2
4tolnaftate449.9IL5, IL4
5loteprednol44 1110.9IL4, IL5
6mometasone44 1110.9IL5, IL4
7omalizumab44 1110.9IL5, IL4
82-chlorodeoxyadenosine449.9IL5, ADA
9oxatomide449.9IL5, CYP1A2
10ranitidine44 28 24 1112.9ADA, CYP1A2
11ovomucoid449.9IL5, IL4
12c-d4t449.9IL4, IL5
13terbinafine44 50 1111.9IL5, CYP1A2
14epinastine44 1110.9IL4, IL5
15roxithromycin44 28 1111.9IL5, CYP1A2
16nedocromil sodium449.9IL5, IL4
17pranlukast44 28 1111.9IL4, IL5
18glatiramer acetate44 1110.9IL5, IL4
19mk 57160 4410.9IL4, IL5
20salmeterol44 50 28 1112.8IL5, IL4
21desloratadine44 1110.8CYP1A2, IL4
22itraconazole44 1110.8IL5, IL4
23clarithromycin44 1110.8IL5, CYP1A2
24il-12449.8IL4, IL5
25imiquimod44 60 28 1112.8CYP1A2, IL5
26montelukast44 50 28 1112.8IL5, IL4
27miconazole28 44 1111.7IL5, CYP1A2
28gm-csf44 2810.7IL5, IL4
29trifluoperazine44 28 50 1112.7CYP1A2, ADA
30amphotericin b449.7IL5, IL4, ADA
31bleomycin44 1110.7DCLRE1C, IL5, IL4
32rolipram44 60 2811.6IL5, ADA, IL4
33con a449.6IL4, IL5
34theophylline44 28 24 1112.6IL5, CYP1A2, ADA
35caffeine44 28 1 50 24 1114.6CYP1A2, ADA, RAG1, RAG2
36budesonide44 50 1111.6IL4, IL5
37lidocaine44 28 1111.6CYP1A2, IL5
38isoproterenol44 1110.5IL4, ADA, IL5
39herbimycin a44 6010.5IL7R, IL4, IL5
40praziquantel44 1110.4CYP1A2, IL4, IL5
41azelastine44 1110.4CYP1A2, IL4, IL5
42carbamazepine44 50 1111.4IL5, IL4, CYP1A2
43fluticasone propionate44 50 60 1112.4IL4, IL5
44ionomycin449.3IL5, IL4, IL7R, RAG1
45imatinib44 50 1111.3IL5, IL4, CYP1A2
46sb 20358044 6010.1IL5, AIRE, IL4
47indomethacin44 28 60 1111.9IL4, IL5, ADA
48dexamethasone44 50 28 1111.8CYP1A2, ADA, IL5, IL4, RAG1
49cyclosporin a44 28 6010.5IL5, FOXP3, ADA, IL4, IL2RG
50tyrosine448.2IL2RG, IL4, IL7R, IFNGR1, AIRE, IL5

GO Terms for genes affiliated with Omenn Syndrome

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Cellular components related to Omenn Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098979.0IL2RG, IL7R, IL4, ADA

Biological processes related to Omenn Syndrome according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1pre-B cell allelic exclusionGO:000233110.2RAG1, RAG2
2negative regulation of thymocyte apoptotic processGO:007024410.1ADA, RAG1
3interleukin-7-mediated signaling pathwayGO:003811110.1IL7R, IL2RG
4V(D)J recombinationGO:003315110.0RAG2, RAG1, LIG4
5T cell differentiation in thymusGO:003307710.0RAG2, RAG1, LIG4
6positive regulation of T cell differentiation in thymusGO:003308910.0ADA, IL7R
7nucleic acid phosphodiester bond hydrolysisGO:00903059.7RAG1, DCLRE1C
8T cell differentiationGO:00302179.7CHD7, IL7R
9immunoglobulin V(D)J recombinationGO:00331529.6FOXP3, LIG4
10B cell differentiationGO:00301839.5DCLRE1C, IL4, RAG1, RAG2
11positive regulation of B cell proliferationGO:00308909.5IL5, IL4, ADA
12T cell homeostasisGO:00430299.4RAG1, FOXP3
13T cell activationGO:00421109.4FOXP3, ADA
14negative regulation of chronic inflammatory responseGO:00026779.4FOXP3, IL4
15immune responseGO:00069558.5RAG1, AIRE, IL4, IL5, IL7R, IL2RG
16positive regulation of transcription, DNA-templatedGO:00458938.3AIRE, FOXP3, IL4, IL5

Molecular functions related to Omenn Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1interleukin-7 receptor activityGO:00049179.7IL2RG, IL7R
2chromatin bindingGO:00036828.6RAG2, FOXP3, CHD7, AIRE
3protein bindingGO:00055155.5AIRE, LIG4, ADA, CHD7, FOXP3, IFNGR1

Sources for Omenn Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet