MCID: OMN001
MIFTS: 68

Omenn Syndrome

Categories: Genetic diseases, Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Omenn Syndrome

MalaCards integrated aliases for Omenn Syndrome:

Name: Omenn Syndrome 53 12 72 49 24 55 71 13 51 14 69
Histiocytic Medullary Reticulosis 24 28 69
Severe Combined Immunodeficiency with Hypereosinophilia 53 49
Combined Immunodeficiency with Hypereosinophilia 12 55
Reticuloendotheliosis, Familial, with Eosinophilia 53
Reticuloendotheliosis Familial with Eosinophilia 49
Familial Reticuloendotheliosis 24
Malignant Histiocytosis 69
Omenn's Syndrome 24
Os 71

Characteristics:

Orphanet epidemiological data:

55
omenn syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
omenn syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare immunological diseases


Summaries for Omenn Syndrome

NIH Rare Diseases : 49 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 histiocytic medullary reticulosis, is related to malignant histiocytosis and hematopoietic stem cell transplantation, and has symptoms including pruritus, edema and fever. An important gene associated with Omenn Syndrome is RAG2 (Recombination Activating 2), and among its related pathways/superpathways are Innate Immune System and TGF-Beta Pathway. The drugs alemtuzumab and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include t cells, skin and b cells, and related phenotypes are cellular and hematopoietic system

UniProtKB/Swiss-Prot : 71 Omenn syndrome: Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels.

Genetics Home Reference : 24 Omenn syndrome is an inherited disorder of the immune system (immunodeficiency). Omenn syndrome is one of several forms of severe combined immunodeficiency (SCID), a group of disorders that cause individuals to have virtually no immune protection from bacteria, viruses, and fungi. Individuals with SCID are prone to repeated and persistent infections that can be very serious or life-threatening. Infants with Omenn syndrome typically experience pneumonia and chronic diarrhea. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people.

Disease Ontology : 12 A severe combined immunodeficiency that has_material_basis in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly.

Wikipedia : 72 Omenn syndrome is an autosomal recessive severe combined immunodeficiency associated with hypomorphic... more...

Description from OMIM: 603554

Related Diseases for Omenn Syndrome

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

(show top 50) (show all 230)
# Related Disease Score Top Affiliating Genes
1 malignant histiocytosis 33.3 DCLRE1C RAG1 RAG2
2 hematopoietic stem cell transplantation 30.6 IFNG IL10 TNF
3 recombinase activating gene 1 deficiency 30.6 RAG1 RAG2
4 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.2 AIRE FOXP3 IFNG IL10 RAG1
5 allergic hypersensitivity disease 29.8 IFNG IL10 IL4 IL5
6 lymphopenia 29.7 FOXP3 IFNG IL2RG IL7R RAG1
7 conjunctivitis 29.7 FOXP3 IFNG IL4 IL5
8 severe combined immunodeficiency, x-linked 29.4 ADA IL2RG IL4 IL7R
9 combined immunodeficiency, x-linked 29.4 ADA DCLRE1C IL2RG IL4 IL7R LIG4
10 severe combined immunodeficiency 29.4 ADA DCLRE1C IL2RG IL4 IL7R LIG4
11 virus associated hemophagocytic syndrome 11.3
12 osteogenic sarcoma 11.2
13 opitz gbbb syndrome, type i 11.1
14 short syndrome 11.1
15 baculum, congenital absence of 10.9
16 osteitis fibrosa 10.9
17 adenosarcoma of the uterus 10.9
18 jamaican vomiting sickness 10.9
19 severe combined immunodeficiency with sensitivity to ionizing radiation 10.6 DCLRE1C LIG4
20 punctate inner choroidopathy 10.5 IL10 TNF
21 eosinophilic fasciitis 10.5 IFNG IL5
22 interferon gamma, receptor 1, deficiency 10.5 IFNG IFNGR1
23 ascaris lumbricoides infection 10.5 IFNG IL5 LIG4
24 multicentric castleman disease 10.5 IFNG IL10 IL5
25 lig4 syndrome 10.5 DCLRE1C LIG4 RAG1 RAG2
26 histiocytosis 10.5
27 acute necrotizing encephalitis 10.5 FOXP3 IFNG
28 hypersplenism 10.4 FOXP3 IFNG IL7R
29 clonorchiasis 10.4 IFNG IL10 TNF
30 intermediate uveitis 10.4 IFNG IL10 TNF
31 autoimmune disease of endocrine system 10.4 AIRE FOXP3 IFNG
32 hemorrhagic fever 10.4 IFNG IL10 TNF
33 spotted fever 10.4 IFNG IL10 TNF
34 plasmodium vivax malaria 10.4 IFNG IL10 TNF
35 q fever 10.4 IFNG IL10 TNF
36 tropical spastic paraparesis 10.4 FOXP3 IFNG IL10
37 mixed connective tissue disease 10.4 IFNG IL10 TNF
38 pericardial tuberculosis 10.4 ADA IFNG IL10
39 melioidosis 10.4 IFNG IL10 TNF
40 mycoplasmal pneumonia 10.4 IFNG IL4
41 reactive arthritis 10.4 IFNG IL10 TNF
42 staphylococcal toxic shock syndrome 10.4 IFNG TNF
43 churg-strauss syndrome 10.4 IL10 IL5 TNF
44 dengue hemorrhagic fever 10.4 IFNG IL10 TNF
45 primary progressive multiple sclerosis 10.4 IL10 IL7R TNF
46 human immunodeficiency virus infectious disease 10.4 IFNG IL10 TNF
47 angioimmunoblastic lymphadenopathy with dysproteinemia 10.4 IL5 TNF
48 bronchiolitis obliterans 10.4 IFNG IL10 TNF
49 extrapulmonary tuberculosis 10.4 ADA IFNG IL10
50 cytomegalovirus infection 10.4 IFNG IL10 RAG1 TNF

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



Diseases related to Omenn Syndrome

Symptoms & Phenotypes for Omenn Syndrome

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
diarrhea

Abdomen Spleen:
splenomegaly

Hematology:
anemia
thrombocytopenia
eosinophilia

Immunology:
lymphadenopathy
absent b cells
increased frequency of bacterial, viral, and fungal infections
lymph node architecture severely altered: lack of follicles, depletion of lymphocytes, and increased proportion of interdigitating reticular cells and eosinophils
very low b cells
more
Laboratory Abnormalities:
hypoproteinemia
very low igg
very low iga
very low igm
increased ige

Skin Nails Hair Skin Histology:
lymphocytic infiltrates with occasional histiocytes and eosinophils

Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Skin Nails Hair Hair:
alopecia

Respiratory Lung:
pneumonia

Skin Nails Hair Skin:
pachydermia
generalized erythrodermia


Clinical features from OMIM:

603554

Human phenotypes related to Omenn Syndrome:

55 31 (show all 38)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 55 31 frequent (33%) Frequent (79-30%) HP:0000989
2 edema 55 31 frequent (33%) Frequent (79-30%) HP:0000969
3 fever 55 31 frequent (33%) Frequent (79-30%) HP:0001945
4 dry skin 55 31 frequent (33%) Frequent (79-30%) HP:0000958
5 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
6 failure to thrive 55 31 hallmark (90%) Very frequent (99-80%) HP:0001508
7 splenomegaly 55 31 frequent (33%) Frequent (79-30%) HP:0001744
8 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
9 anemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001903
10 abnormality of the metaphysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000944
11 alopecia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001596
12 short toe 55 31 occasional (7.5%) Occasional (29-5%) HP:0001831
13 autoimmunity 55 31 occasional (7.5%) Occasional (29-5%) HP:0002960
14 thyroiditis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100646
15 nephrotic syndrome 55 31 occasional (7.5%) Occasional (29-5%) HP:0000100
16 chronic diarrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0002028
17 sepsis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100806
18 thickened skin 55 31 frequent (33%) Frequent (79-30%) HP:0001072
19 lymphoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0002665
20 aplasia/hypoplasia of the eyebrow 55 31 frequent (33%) Frequent (79-30%) HP:0100840
21 lymphadenopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0002716
22 erythroderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0001019
23 pneumonia 55 31 frequent (33%) Frequent (79-30%) HP:0002090
24 eosinophilia 55 31 frequent (33%) Frequent (79-30%) HP:0001880
25 severe combined immunodeficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0004430
26 desquamation of skin soon after birth 55 31 frequent (33%) Frequent (79-30%) HP:0007549
27 diarrhea 31 HP:0002014
28 thrombocytopenia 31 HP:0001873
29 hypoplasia of the thymus 31 HP:0000778
30 leukocytosis 55 Frequent (79-30%)
31 recurrent bacterial infections 31 HP:0002718
32 recurrent viral infections 31 HP:0004429
33 b lymphocytopenia 31 HP:0010976
34 recurrent fungal infections 31 HP:0002841
35 hypoproteinemia 31 HP:0003075
36 abnormality of lymphocytes 55 Very frequent (99-80%)
37 severe b lymphocytopenia 31 HP:0005365
38 abnormal lymphocyte morphology 31 hallmark (90%) HP:0004332

UMLS symptoms related to Omenn Syndrome:


diarrhea

MGI Mouse Phenotypes related to Omenn Syndrome:

43 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.5 LIG4 IL2RG IL7R IL4 RAG2 RAG1
2 hematopoietic system MP:0005397 10.5 IL5 IL4 IL7R LIG4 RAG2 RAG1
3 immune system MP:0005387 10.48 IL5 IL4 IL7R LIG4 RAG2 RAG1
4 endocrine/exocrine gland MP:0005379 10.47 IL4 IL7R LIG4 RAG2 RAG1 TNF
5 homeostasis/metabolism MP:0005376 10.47 LIG4 IL2RG IL5 IL4 RAG2 RAG1
6 digestive/alimentary MP:0005381 10.46 IL5 IL4 LIG4 RAG1 TNF RAG2
7 growth/size/body region MP:0005378 10.4 LIG4 IL5 IL4 TNF RAG2 RAG1
8 behavior/neurological MP:0005386 10.39 IL5 TNF LIG4 RAG2 RAG1 CHD7
9 mortality/aging MP:0010768 10.35 LIG4 IL2RG IL4 TNF RAG2 RAG1
10 cardiovascular system MP:0005385 10.3 RAG2 RAG1 TNF CHD7 ADA IFNG
11 liver/biliary system MP:0005370 10.27 LIG4 IL5 IL4 RAG2 RAG1 TNF
12 craniofacial MP:0005382 10.24 IL2RG IL4 RAG2 TNF CHD7 FOXP3
13 embryo MP:0005380 10.23 IL2RG IL5 TNF CHD7 ADA IFNG
14 integument MP:0010771 10.21 IL4 TNF RAG2 RAG1 CARD11 FOXP3
15 neoplasm MP:0002006 10.2 LIG4 IL2RG IL5 IL7R RAG2 RAG1
16 nervous system MP:0003631 10.17 IL4 LIG4 RAG2 RAG1 TNF CHD7
17 reproductive system MP:0005389 10.13 IL5 IL4 LIG4 RAG2 TNF AIRE
18 normal MP:0002873 10.07 IL4 IL2RG IL7R RAG2 RAG1 AIRE
19 respiratory system MP:0005388 9.97 IL5 IL4 RAG2 RAG1 TNF AIRE
20 no phenotypic analysis MP:0003012 9.95 IL4 IL2RG TNF AIRE FOXP3 IFNG
21 renal/urinary system MP:0005367 9.87 IL4 RAG1 ADA IFNG FOXP3 EFNA5
22 skeleton MP:0005390 9.7 IL2RG IL4 TNF RAG2 RAG1 ADA
23 vision/eye MP:0005391 9.28 IL4 RAG1 TNF CHD7 AIRE IFNG

Drugs & Therapeutics for Omenn Syndrome

Drugs for Omenn Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2,Phase 1 216503-57-0
2
Fludarabine Approved Phase 2,Phase 1 21679-14-1, 75607-67-9 30751
3
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
4
Melphalan Approved Phase 2,Phase 1 148-82-3 460612 4053
5 Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
6 Alkylating Agents Phase 2
7 Antimetabolites Phase 2
8 Antimetabolites, Antineoplastic Phase 2
9 Immunosuppressive Agents Phase 2
10 Nucleic Acid Synthesis Inhibitors Phase 2
11
Busulfan Approved, Investigational 55-98-1 2478
12
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
13
Mesna Approved, Investigational 3375-50-6 598
14
Vidarabine Approved, Investigational 24356-66-9 21704 32326
15 Anti-Infective Agents
16 Antirheumatic Agents
17 Antiviral Agents
18 Protective Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
2 Reduced Intensity Conditioning for Umbilical Cord Blood Transplant in Pediatric Patients With Non-Malignant Disorders Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
3 Natural History Study of SCID Disorders Recruiting NCT01186913
4 Patients Treated for SCID (1968-Present) Recruiting NCT01346150
5 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA

Search NIH Clinical Center for Omenn Syndrome

Genetic Tests for Omenn Syndrome

Genetic tests related to Omenn Syndrome:

# Genetic test Affiliating Genes
1 Histiocytic Medullary Reticulosis 28 DCLRE1C RAG1 RAG2

Anatomical Context for Omenn Syndrome

MalaCards organs/tissues related to Omenn Syndrome:

38
T Cells, Skin, B Cells, Bone, Bone Marrow, Lymph Node, Thymus

Publications for Omenn Syndrome

Articles related to Omenn Syndrome:

(show top 50) (show all 85)
# Title Authors Year
1
Omenn Syndrome and DNA recombination defects. ( 28747605 )
2017
2
Omenn Syndrome Presenting with Striking Erythroderma and Extreme Lymphocytosis in a Newborn. ( 27862277 )
2017
3
Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation. ( 29241731 )
2017
4
Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome. ( 28414192 )
2017
5
Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis. ( 27081423 )
2016
6
Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine). ( 26596586 )
2016
7
Cyclosporin treatment improves skin findings in omenn syndrome. ( 25727345 )
2015
8
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency. ( 26289640 )
2015
9
Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome. ( 26476733 )
2015
10
Compound heterozygous mutation of rag1 leading to omenn syndrome. ( 25849362 )
2015
11
Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias. ( 24759676 )
2014
12
RAG1 reversion mosaicism in a patient with omenn syndrome. ( 24817258 )
2014
13
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience. ( 24290292 )
2013
14
First reported case of Omenn syndrome in a patient with reticular dysgenesis. ( 23014587 )
2013
15
Omenn syndrome: two case reports. ( 24476615 )
2013
16
From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family. ( 22882342 )
2012
17
Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. ( 25954555 )
2012
18
A double cure: Omenn syndrome and I^ thalassaemia successfully treated with mismatched unrelated donor transplantation. ( 21602897 )
2012
19
Anti-CD3I/ mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications. ( 22723555 )
2012
20
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. ( 22841008 )
2012
21
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. ( 21624848 )
2011
22
Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. ( 21771083 )
2011
23
Possible role of Artemis c.512C>G polymorphic variant in Omenn syndrome. ( 21030322 )
2011
24
Omenn syndrome does not live by V(D)J recombination alone. ( 22001740 )
2011
25
Decrease of skin infiltrating and circulating CCR10+ T cells coincides with clinical improvement after topical tacrolimus in Omenn syndrome. ( 19609312 )
2010
26
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
27
Prominent eosinophilia but less eosinophil activation in a patient with Omenn syndrome. ( 20958863 )
2010
28
Igf-I stimulates in vivo thymopoiesis after stem cell transplantation in a child with Omenn syndrome. ( 19777327 )
2010
29
Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. ( 20547828 )
2010
30
Defect of regulatory T cells in patients with Omenn syndrome. ( 20109747 )
2010
31
Novel presentation of Omenn syndrome in association with aniridia. ( 19178939 )
2009
32
Omenn syndrome due to mutation of the RAG2 gene. ( 19470080 )
2009
33
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
34
Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency. ( 18822103 )
2009
35
Matched unrelated bone marrow transplant for Omenn syndrome. ( 18854956 )
2009
36
Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome. ( 19064334 )
2009
37
Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells. ( 19767069 )
2009
38
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
39
Rapid full engraftment and successful immune reconstitution after allogeneic hematopoietic stem cell transplantation with reduced intensity conditioning in Omenn syndrome. ( 18992055 )
2009
40
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. ( 19912631 )
2009
41
Omenn syndrome: inflammation in leaky severe combined immunodeficiency. ( 18992930 )
2008
42
Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome. ( 18559672 )
2008
43
A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction. ( 18768869 )
2008
44
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
45
Omenn syndrome with mutation in RAG1 gene. ( 19011808 )
2008
46
Adenosine deaminase deficiency can present with features of Omenn syndrome. ( 18243287 )
2008
47
Omenn syndrome is associated with mutations in DNA ligase IV. ( 18845326 )
2008
48
Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model. ( 17476359 )
2007
49
Biochemical and folding defects in a RAG1 variant associated with Omenn syndrome. ( 18056378 )
2007
50
Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations. ( 17598841 )
2007

Variations for Omenn Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Omenn Syndrome:

71 (show all 28)
# Symbol AA change Variation ID SNP ID
1 DCLRE1C p.His35Asp VAR_023077 rs121908159
2 RAG1 p.Arg396Cys VAR_008886 rs104894289
3 RAG1 p.Arg396His VAR_008887 rs104894291
4 RAG1 p.Asp429Gly VAR_008888 rs104894292
5 RAG1 p.Arg561His VAR_008889 rs104894284
6 RAG1 p.Arg561Cys VAR_008890 rs104894285
7 RAG1 p.Arg737His VAR_008891 rs104894286
8 RAG1 p.Leu885Arg VAR_008893 rs199474691
9 RAG1 p.Tyr912Cys VAR_008894 rs104894290
10 RAG1 p.Cys328Tyr VAR_025971 rs121918571
11 RAG1 p.Arg396Leu VAR_025972 rs104894291
12 RAG1 p.Ser401Pro VAR_025973 rs199474682
13 RAG1 p.Arg410Gln VAR_025974 rs199474684
14 RAG1 p.Val433Met VAR_025975 rs199474679
15 RAG1 p.Met435Val VAR_025976 rs141524540
16 RAG1 p.Ala444Val VAR_025977 rs199474685
17 RAG1 p.Arg474His VAR_025978 rs199474686
18 RAG1 p.Arg507Trp VAR_025979 rs104894298
19 RAG1 p.Trp522Cys VAR_025980 rs193922461
20 RAG1 p.Arg559Ser VAR_025981 rs199474681
21 RAG1 p.Arg624Cys VAR_025982 rs199474688
22 RAG1 p.Glu669Gly VAR_025983 rs199474689
23 RAG1 p.His753Leu VAR_025984 rs199474687
24 RAG1 p.Arg975Gln VAR_025987 rs150739647
25 RAG1 p.Leu454Gln VAR_067274 rs199474677
26 RAG1 p.Arg699Trp VAR_067276 rs199474676
27 RAG2 p.Cys41Trp VAR_008895 rs121917895
28 RAG2 p.Met285Arg VAR_008896 rs121917896

ClinVar genetic disease variations for Omenn Syndrome:

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAG2 NM_000536.3(RAG2): c.686G> A (p.Arg229Gln) single nucleotide variant Pathogenic rs121917894 GRCh37 Chromosome 11, 36615033: 36615033
2 RAG2 NM_000536.3(RAG2): c.123C> G (p.Cys41Trp) single nucleotide variant Pathogenic rs121917895 GRCh37 Chromosome 11, 36615596: 36615596
3 RAG2 NM_000536.3(RAG2): c.854T> G (p.Met285Arg) single nucleotide variant Pathogenic rs121917896 GRCh37 Chromosome 11, 36614865: 36614865
4 RAG2 NM_000536.3(RAG2): c.283G> A (p.Gly95Arg) single nucleotide variant Pathogenic rs36001797 GRCh37 Chromosome 11, 36615436: 36615436
5 RAG2 NM_000536.3(RAG2): c.115A> G (p.Arg39Gly) single nucleotide variant Pathogenic rs121917897 GRCh37 Chromosome 11, 36615604: 36615604
6 RAG1 NM_000448.2(RAG1): c.1682G> A (p.Arg561His) single nucleotide variant Pathogenic rs104894284 GRCh37 Chromosome 11, 36596536: 36596536
7 RAG1 NM_000448.2(RAG1): c.1186C> T (p.Arg396Cys) single nucleotide variant Pathogenic rs104894289 GRCh37 Chromosome 11, 36596040: 36596040
8 RAG1 NM_000448.2(RAG1): c.2735A> G (p.Tyr912Cys) single nucleotide variant Pathogenic rs104894290 GRCh37 Chromosome 11, 36597589: 36597589
9 RAG1 NM_000448.2(RAG1): c.1187G> A (p.Arg396His) single nucleotide variant Pathogenic rs104894291 GRCh37 Chromosome 11, 36596041: 36596041
10 RAG1 NM_000448.2(RAG1): c.1286A> G (p.Asp429Gly) single nucleotide variant Pathogenic rs104894292 GRCh37 Chromosome 11, 36596140: 36596140
11 RAG1 NM_000448.2(RAG1): c.1681C> T (p.Arg561Cys) single nucleotide variant Pathogenic rs104894285 GRCh37 Chromosome 11, 36596535: 36596535
12 RAG1 NM_000448.2(RAG1): c.2210G> A (p.Arg737His) single nucleotide variant Pathogenic rs104894286 GRCh37 Chromosome 11, 36597064: 36597064
13 RAG1 RAG1, 13-BP DEL, NT1723 deletion Pathogenic
14 RAG1 RAG1, 2-BP DEL, 368AA deletion Pathogenic
15 RAG1 RAG1, 1-BP DEL, 887A deletion Pathogenic
16 RAG1 RAG1, 1-BP DEL, 631T deletion Pathogenic
17 RAG1 NM_000448.2(RAG1): c.983G> A (p.Cys328Tyr) single nucleotide variant Pathogenic rs121918571 GRCh37 Chromosome 11, 36595837: 36595837
18 RAG1 NM_000448.2(RAG1): c.2904C> A (p.Asn968Lys) single nucleotide variant Likely pathogenic rs193922463 GRCh37 Chromosome 11, 36597758: 36597758
19 RAG2 NM_000536.3(RAG2): c.1247G> T (p.Trp416Leu) single nucleotide variant Likely pathogenic rs193922572 GRCh37 Chromosome 11, 36614472: 36614472
20 DCLRE1C NM_001033855.2(DCLRE1C): c.103C> G (p.His35Asp) single nucleotide variant Pathogenic rs121908159 GRCh37 Chromosome 10, 14995907: 14995907
21 DCLRE1C NM_001033855.2(DCLRE1C): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121908158 GRCh37 Chromosome 10, 14996008: 14996008

Expression for Omenn Syndrome

Search GEO for disease gene expression data for Omenn Syndrome.

Pathways for Omenn Syndrome

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

(show all 47)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.04 CARD11 IFNG IFNGR1 IL10 IL1RN IL2RG
2
Show member pathways
13.53 IFNG IFNGR1 IL10 IL2RG IL4 IL5
3
Show member pathways
13.33 IFNG IFNGR1 IL10 IL1RN IL2RG IL4
4
Show member pathways
12.86 FOXP3 IFNG IL10 IL4 IL5 TNF
5 12.84 IFNG IFNGR1 IL2RG IL4 IL5 IL7R
6
Show member pathways
12.78 IFNG IFNGR1 IL2RG IL4 TNF
7
Show member pathways
12.65 CARD11 IFNG IFNGR1 IL10 IL4 TNF
8
Show member pathways
12.57 FOXP3 IFNG IFNGR1 IL10 IL2RG IL4
9
Show member pathways
12.46 CARD11 IFNG IL10 IL4 IL5 TNF
10
Show member pathways
12.32 IFNG IL4 IL5 TNF
11 12.32 CARD11 DCLRE1C FOXP3 IFNG IL10 IL1RN
12
Show member pathways
12.29 IFNG IFNGR1 IL10 IL2RG IL4 IL5
13
Show member pathways
12.27 IFNG IFNGR1 IL10 IL4 TNF
14 12.23 IFNG IFNGR1 IL10 TNF
15
Show member pathways
12.18 IFNG IFNGR1 IL4 TNF
16
Show member pathways
12.18 IFNG IL10 IL4 IL5 TNF
17
Show member pathways
12.09 IL10 IL7R RAG1 RAG2
18 12 IFNG IL10 IL4 IL5 IL7R TNF
19 11.99 IL10 IL2RG IL4 TNF
20
Show member pathways
11.95 IFNG IFNGR1 IL10 TNF
21 11.91 IL4 IL5 IL7R TNF
22 11.86 IFNG IL10 TNF
23 11.86 IFNG IFNGR1 IL10 IL7R
24
Show member pathways
11.83 IFNG IL2RG IL4
25
Show member pathways
11.79 FOXP3 IFNG IL4 IL5 TNF
26 11.78 IFNG IL4 IL5
27 11.78 IFNG IL10 IL7R TNF
28 11.71 FOXP3 IL10 IL4 IL5 TNF
29 11.7 IL10 IL2RG IL4 IL5
30 11.7 IFNG IL10 IL4 IL5 IL7R TNF
31
Show member pathways
11.69 FOXP3 IL2RG IL4
32 11.66 IL4 IL5 TNF
33
Show member pathways
11.64 IFNG IL2RG TNF
34 11.58 IL10 IL1RN IL4 TNF
35
Show member pathways
11.54 IFNG IFNGR1 TNF
36 11.52 IFNG IL10 TNF
37 11.38 IFNG IL2RG IL4 IL5
38 11.37 IFNG IL10 TNF
39
Show member pathways
11.36 FOXP3 IFNG IL10 IL2RG TNF
40 11.35 IFNG IL4 IL5 TNF
41 11.28 IL2RG IL7R RAG1 RAG2
42 11.24 IFNG IL10 IL4 IL5
43 11.21 IL10 IL4 IL5 TNF
44 11.13 IFNG IL10 IL4 IL5 TNF
45 11.1 FOXP3 IFNG IL10 IL2RG IL4 IL5
46 10.85 IL2RG IL4 IL5
47 10.74 ADA AIRE DCLRE1C IL2RG IL7R RAG1

GO Terms for Omenn Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.26 ADA IL2RG IL7R TNF
2 nonhomologous end joining complex GO:0070419 8.62 DCLRE1C LIG4

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 regulation of receptor activity GO:0010469 9.93 IFNG IL10 IL1RN IL4 IL5 TNF
2 negative regulation of inflammatory response GO:0050728 9.84 ADA FOXP3 IL10
3 response to virus GO:0009615 9.83 FOXP3 IFNG IFNGR1 TNF
4 response to glucocorticoid GO:0051384 9.81 IL10 IL1RN TNF
5 humoral immune response GO:0006959 9.8 AIRE IFNG TNF
6 DNA recombination GO:0006310 9.8 DCLRE1C LIG4 RAG1 RAG2
7 T cell differentiation GO:0030217 9.75 CHD7 IL7R RAG2
8 B cell proliferation GO:0042100 9.71 CARD11 IL10 IL7R
9 T cell differentiation in thymus GO:0033077 9.69 LIG4 RAG1 RAG2
10 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.66 IFNG IFNGR1
11 positive regulation of podosome assembly GO:0071803 9.65 IL5 TNF
12 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.65 IL10 TNF
13 negative regulation of interleukin-17 production GO:0032700 9.65 FOXP3 IFNG
14 negative regulation of interleukin-6 production GO:0032715 9.65 FOXP3 IL10 TNF
15 negative regulation of heterotypic cell-cell adhesion GO:0034115 9.64 IL10 IL1RN
16 positive regulation of T cell differentiation in thymus GO:0033089 9.64 ADA IL7R
17 endothelial cell apoptotic process GO:0072577 9.63 IL10 TNF
18 positive regulation of MHC class II biosynthetic process GO:0045348 9.62 IL10 IL4
19 T cell activation GO:0042110 9.62 ADA CARD11 FOXP3 IL4
20 negative regulation of thymocyte apoptotic process GO:0070244 9.61 ADA RAG1
21 negative regulation of cytokine secretion involved in immune response GO:0002740 9.61 IL10 TNF
22 type 2 immune response GO:0042092 9.6 IL10 IL4
23 regulation of isotype switching GO:0045191 9.58 IL10 IL4
24 positive regulation of T cell differentiation GO:0045582 9.58 ADA IL4 RAG1
25 receptor biosynthetic process GO:0032800 9.57 IL10 TNF
26 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.56 IFNG TNF
27 positive regulation of B cell proliferation GO:0030890 9.56 ADA CARD11 IL4 IL5
28 pre-B cell allelic exclusion GO:0002331 9.55 RAG1 RAG2
29 regulation of T cell differentiation GO:0045580 9.54 ADA CARD11 RAG1
30 V(D)J recombination GO:0033151 9.46 DCLRE1C LIG4 RAG1 RAG2
31 positive regulation of vitamin D biosynthetic process GO:0060557 9.43 IFNG TNF
32 B cell differentiation GO:0030183 9.43 CARD11 DCLRE1C IL10 IL4 RAG1 RAG2
33 immune response GO:0006955 9.32 AIRE IFNG IL10 IL1RN IL2RG IL4
34 positive regulation of transcription, DNA-templated GO:0045893 10.07 AIRE FOXP3 IL10 IL4 IL5 TNF

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

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.1 IFNG IL10 IL1RN IL4 IL5 TNF
2 interleukin-7 receptor activity GO:0004917 8.96 IL2RG IL7R
3 protein binding GO:0005515 10.11 ADA AIRE CARD11 CHD7 DCLRE1C EFNA5

Sources for Omenn Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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