MCID: OMN001
MIFTS: 72

Omenn Syndrome malady

Immune diseases, Blood diseases, Genetic diseases categories

Summaries for Omenn Syndrome

About this section
Sources:
8Disease Ontology, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 nephrotic syndrome, hypothyroidy and thyroiditis. 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

About this section
Sources:
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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

603554

Clinical synopsis from OMIM:

603554

Symptoms:

48 (show all 28)
  • nephrotic syndrome
  • hypothyroidy
  • thyroiditis
  • metaphyseal anomaly
  • autoimmunity/autoimmune reaction/autoantibodies
  • anaemia
  • lymphoma
  • sepsis severe/septicemia
  • dysplastic/thick/grooved fingernails
  • fever/chilling
  • 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
  • erythema/erythematous lesions/erythroderma/polymorphous erythema

Drugs & Therapeutics for Omenn Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests
See all sources

Genetic tests related to Omenn Syndrome:

id Genetic test Affiliating Genes
1 Omenn Syndrome20 RAG2

Anatomical Context for Omenn Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Omenn Syndrome:

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

Animal Models for Omenn Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

Publications for Omenn Syndrome

About this section
Sources:
50PubMed
See all sources

Articles related to Omenn Syndrome:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
First reported case of Omenn syndrome in a patient with reticular dysgenesis. (23014587)
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
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
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
Prominent eosinophilia but less eosinophil activation in a patient with Omenn syndrome. (20958863)
2010
9
Decrease of skin infiltrating and circulating CCR10+ T cells coincides with clinical improvement after topical tacrolimus in Omenn syndrome. (19609312)
2010
10
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
11
Defect of regulatory T cells in patients with Omenn syndrome. (20109747)
2010
12
Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells. (19767069)
2009
13
Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency. (18822103)
2009
14
Matched unrelated bone marrow transplant for Omenn syndrome. (18854956)
2009
15
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
16
Omenn syndrome due to mutation of the RAG2 gene. (19470080)
2009
17
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. (19912631)
2009
18
Rapid full engraftment and successful immune reconstitution after allogeneic hematopoietic stem cell transplantation with reduced intensity conditioning in Omenn syndrome. (18992055)
2009
19
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
20
Adenosine deaminase deficiency can present with features of Omenn syndrome. (18243287)
2008
21
Murine models of Omenn syndrome. (17476351)
2007
22
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. (17572155)
2007
23
Exfoliative erythroderma, recurrent infections, generalized lymphadenopathy and hepatosplenomegaly in a newborn: Omenn syndrome. (17535207)
2007
24
Bone marrow transplantation without conditioning regimen in Omenn syndrome: a case report. (17976129)
2007
25
Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations. (17598841)
2007
26
Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model. (17476359)
2007
27
Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. (17075247)
2006
28
Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation. (16763459)
2006
29
Omenn syndrome in an infant with IL7RA gene mutation. (16492442)
2006
30
Omenn syndrome: therapeutic effects of cyclosporin. (16712568)
2006
31
Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome. (16630949)
2006
32
Necrotizing enterocolitis in an infant with Omenn syndrome. (17176792)
2006
33
AIRE deficiency in thymus of 2 patients with Omenn syndrome. (15696198)
2005
34
Novel adopted immunotherapy for mixed chimerism after unrelated cord blood transplantation in Omenn syndrome. (16191096)
2005
35
Omenn syndrome due to ARTEMIS mutations. (15731174)
2005
36
Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience. (15908971)
2005
37
Cardiac thrombus in Omenn syndrome. (16088419)
2005
38
Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection. (15870023)
2005
39
Non-myeloablative stem cell transplantation for severe combined immunodeficiency--Omenn syndrome. (15086425)
2004
40
Reviewing Omenn syndrome. (11795679)
2001
41
Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. (11313270)
2001
42
Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders. (10606976)
2000
43
A preterm baby with Omenn syndrome. (11014463)
2000
44
Prenatal diagnosis of RAG-deficient Omenn syndrome. (10701853)
2000
45
Omenn syndrome: a disorder of Rag1 and Rag2 genes. (10226883)
1999
46
Partial V(D)J recombination activity leads to Omenn syndrome. (9630231)
1998
47
Oligoclonal expansion of CD45RO+ T lymphocytes in Omenn syndrome. (9258771)
1997
48
Treatment of Omenn syndrome by bone marrow transplantation. (7608815)
1995
49
Severe pulmonary vascular occlusive disease following bone marrow transplantation in Omenn syndrome. (2029913)
1991
50
Clinical and immune recovery from Omenn syndrome after bone marrow transplantation. (2647948)
1989

Genetic Variations for Omenn Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
52R&D Systems, 53Reactome, 51QIAGEN, 29KEGG, 12EMD Millipore, 37NCBI BioSystems Database, 4Cell Signaling Technology
See all sources

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

About this section
Sources:
44Novoseek, 59Tocris Bioscience, 28IUPHAR, 11DrugBank, 2BitterDB, 49PharmGKB, 24HMDB
See all sources

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

GO Terms for genes affiliated with Omenn Syndrome

About this section
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:0098979.3ADA, 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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Omenn Syndrome

About this section
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