OS
MCID: OMN001
MIFTS: 67

Omenn Syndrome (OS)

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

Aliases & Classifications for Omenn Syndrome

MalaCards integrated aliases for Omenn Syndrome:

Name: Omenn Syndrome 57 12 76 53 25 59 75 13 55 15 40 73
Severe Combined Immunodeficiency with Hypereosinophilia 57 53
Combined Immunodeficiency with Hypereosinophilia 12 59
Histiocytic Medullary Reticulosis 25 73
Reticuloendotheliosis, Familial, with Eosinophilia 57
Reticuloendotheliosis Familial with Eosinophilia 53
Familial Reticuloendotheliosis 25
Malignant Histiocytosis 73
Omenn's Syndrome 25
Os 75

Characteristics:

Orphanet epidemiological data:

59
omenn syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
omenn syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


Summaries for Omenn Syndrome

NIH Rare Diseases : 53 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.

MalaCards based summary : Omenn Syndrome, also known as severe combined immunodeficiency with hypereosinophilia, is related to malignant histiocytosis and hematopoietic stem cell transplantation, and has symptoms including diarrhea An important gene associated with Omenn Syndrome is RAG2 (Recombination Activating 2), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Fludarabine and Thiotepa have been mentioned in the context of this disorder. Affiliated tissues include t cells, skin and b cells, and related phenotypes are hypothyroidism and failure to thrive

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.

Genetics Home Reference : 25 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.

UniProtKB/Swiss-Prot : 75 Omenn syndrome: Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels.

Wikipedia : 76 Omenn syndrome is an autosomal recessive severe combined immunodeficiency. It is associated with... 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 388)
# Related Disease Score Top Affiliating Genes
1 malignant histiocytosis 34.1 DCLRE1C RAG1 RAG2
2 hematopoietic stem cell transplantation 30.5 IFNG IL10 TNF
3 combined t cell and b cell immunodeficiency 30.4 ADA DCLRE1C IL2RG IL7R LIG4 RAG1
4 severe combined immunodeficiency 30.0 ADA DCLRE1C IFNG IL2RG IL4 IL7R
5 lymphopenia 29.9 FOXP3 IFNG IL2RG IL7R RAG1
6 viral infectious disease 29.8 IFNG IL10 IL4 IL7R TNF
7 severe combined immunodeficiency, x-linked 29.8 ADA IL2RG IL4 IL7R
8 demyelinating disease 29.7 IFNG IL10 IL7R TNF
9 arthritis 29.6 IFNG IL10 IL1RN TNF
10 tetanus 29.5 IFNG IL10 IL4 IL5
11 rheumatoid arthritis 29.2 FOXP3 IFNG IL10 IL1RN IL4 TNF
12 virus associated hemophagocytic syndrome 11.5
13 osteogenic sarcoma 11.4
14 opitz gbbb syndrome, type i 11.3
15 short syndrome 11.2
16 baculum, congenital absence of 11.1
17 early infantile epileptic encephalopathy 11.0
18 osteitis fibrosa 11.0
19 adenosarcoma of the uterus 11.0
20 jamaican vomiting sickness 11.0
21 lymphocytic leukemia 10.6
22 histiocytosis 10.6
23 leukemia 10.5
24 leukemia, acute lymphoblastic 10.5
25 sporotrichosis 10.4 IFNG IL10
26 eosinophilic fasciitis 10.3 IFNG IL5
27 acute necrotizing encephalitis 10.3 FOXP3 IFNG
28 autoimmune atherosclerosis 10.3 FOXP3 IL10
29 pouchitis 10.3 IL10 IL1RN
30 staphylococcal toxic shock syndrome 10.3 IFNG TNF
31 microscopic polyangiitis 10.3 IL10 TNF
32 multifocal choroiditis 10.3 IL10 TNF
33 angioimmunoblastic lymphadenopathy with dysproteinemia 10.3 IL5 TNF
34 acute lymphocytic leukemia 10.3
35 disseminated intravascular coagulation 10.3
36 juvenile ankylosing spondylitis 10.3 IL1RN TNF
37 systemic onset juvenile idiopathic arthritis 10.3 IL1RN TNF
38 recombinase activating gene 1 deficiency 10.3 RAG1 RAG2
39 thyroiditis 10.3
40 cephalosporin allergy 10.3 IFNG IL10 IL5
41 coccidioidomycosis 10.3 IFNGR1 IL10 RAG2
42 candidiasis 10.2 AIRE IFNG IL10
43 b-cell growth factor 10.2 IFNG IL4
44 graft-versus-host disease 10.2 IFNG IL10 TNF
45 chagas disease 10.2 IFNG IL10 TNF
46 plasmodium falciparum malaria 10.2 IFNG IL10 TNF
47 rheumatic disease 10.2 IFNG IL10 TNF
48 mouth disease 10.2 IFNG IL10 TNF
49 acquired immunodeficiency syndrome 10.2 IFNG IL10 TNF
50 ascaris lumbricoides infection 10.2 IFNG IL5 LIG4

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:

57
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Skin Nails Hair Hair:
alopecia

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

Abdomen Spleen:
splenomegaly

Hematology:
anemia
thrombocytopenia
eosinophilia

Abdomen Gastrointestinal:
diarrhea

Respiratory Lung:
pneumonia

Skin Nails Hair Skin:
pachydermia
generalized erythrodermia


Clinical features from OMIM:

603554

Human phenotypes related to Omenn Syndrome:

59 32 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
2 failure to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508
3 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
4 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
5 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
6 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
7 edema 59 32 frequent (33%) Frequent (79-30%) HP:0000969
8 pruritus 59 32 frequent (33%) Frequent (79-30%) HP:0000989
9 abnormality of the metaphysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000944
10 dry skin 59 32 frequent (33%) Frequent (79-30%) HP:0000958
11 alopecia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001596
12 short toe 59 32 occasional (7.5%) Occasional (29-5%) HP:0001831
13 autoimmunity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002960
14 thyroiditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100646
15 nephrotic syndrome 59 32 occasional (7.5%) Occasional (29-5%) HP:0000100
16 chronic diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002028
17 sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100806
18 thickened skin 59 32 frequent (33%) Frequent (79-30%) HP:0001072
19 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
20 aplasia/hypoplasia of the eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0100840
21 lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002716
22 erythroderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001019
23 pneumonia 59 32 frequent (33%) Frequent (79-30%) HP:0002090
24 eosinophilia 59 32 frequent (33%) Frequent (79-30%) HP:0001880
25 severe combined immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0004430
26 desquamation of skin soon after birth 59 32 frequent (33%) Frequent (79-30%) HP:0007549
27 thrombocytopenia 32 HP:0001873
28 hypoplasia of the thymus 32 HP:0000778
29 leukocytosis 59 Frequent (79-30%)
30 diarrhea 32 HP:0002014
31 recurrent bacterial infections 32 HP:0002718
32 recurrent viral infections 32 HP:0004429
33 recurrent fungal infections 32 HP:0002841
34 hypoproteinemia 32 HP:0003075
35 abnormality of lymphocytes 59 Very frequent (99-80%)
36 severe b lymphocytopenia 32 HP:0005365
37 abnormal lymphocyte morphology 32 hallmark (90%) HP:0004332

UMLS symptoms related to Omenn Syndrome:


diarrhea

MGI Mouse Phenotypes related to Omenn Syndrome:

46 (show all 23)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.5 ADA CHD7 DCLRE1C EFNA5 FOXP3 IFNG
2 hematopoietic system MP:0005397 10.5 ADA AIRE CARD11 CHD7 DCLRE1C FOXP3
3 immune system MP:0005387 10.48 ADA AIRE CARD11 CHD7 DCLRE1C FOXP3
4 endocrine/exocrine gland MP:0005379 10.47 ADA AIRE CHD7 DCLRE1C EFNA5 FOXP3
5 homeostasis/metabolism MP:0005376 10.47 ADA AIRE CARD11 CHD7 EFNA5 FOXP3
6 digestive/alimentary MP:0005381 10.46 ADA AIRE CHD7 EFNA5 FOXP3 IFNG
7 growth/size/body region MP:0005378 10.43 ADA AIRE CHD7 DCLRE1C EFNA5 FOXP3
8 behavior/neurological MP:0005386 10.39 AIRE CHD7 EFNA5 FOXP3 IFNG IFNGR1
9 cardiovascular system MP:0005385 10.35 ADA CHD7 DCLRE1C FOXP3 IFNG IFNGR1
10 mortality/aging MP:0010768 10.35 ADA AIRE CHD7 EFNA5 FOXP3 IFNG
11 liver/biliary system MP:0005370 10.27 ADA AIRE FOXP3 IFNG IFNGR1 IL10
12 craniofacial MP:0005382 10.24 CHD7 EFNA5 FOXP3 IFNG IL10 IL2RG
13 embryo MP:0005380 10.23 ADA CHD7 EFNA5 IFNG IFNGR1 IL10
14 integument MP:0010771 10.21 CARD11 FOXP3 IFNG IFNGR1 IL10 IL1RN
15 neoplasm MP:0002006 10.2 AIRE IFNG IFNGR1 IL10 IL2RG IL5
16 nervous system MP:0003631 10.17 AIRE CHD7 EFNA5 IFNG IFNGR1 IL10
17 reproductive system MP:0005389 10.13 ADA AIRE CHD7 EFNA5 FOXP3 IFNG
18 normal MP:0002873 10.07 ADA AIRE FOXP3 IFNG IL10 IL2RG
19 respiratory system MP:0005388 9.97 ADA AIRE CARD11 CHD7 FOXP3 IFNG
20 no phenotypic analysis MP:0003012 9.95 AIRE FOXP3 IFNG IL10 IL2RG IL4
21 renal/urinary system MP:0005367 9.87 ADA EFNA5 FOXP3 IFNG IFNGR1 IL4
22 skeleton MP:0005390 9.7 ADA CHD7 IFNG IFNGR1 IL10 IL1RN
23 vision/eye MP:0005391 9.28 AIRE CHD7 EFNA5 FOXP3 IFNG IL10

Drugs & Therapeutics for Omenn Syndrome

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2,Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
2
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
3
alemtuzumab Approved, Investigational Phase 2,Phase 1,Not Applicable 216503-57-0
4
Melphalan Approved Phase 2,Phase 1,Not Applicable 148-82-3 4053 460612
5
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
6 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
7 Antimetabolites Phase 2,Not Applicable
8 Immunologic Factors Phase 2,Not Applicable
9 Antimetabolites, Antineoplastic Phase 2,Not Applicable
10 Immunosuppressive Agents Phase 2,Not Applicable
11 Alkylating Agents Phase 2,Not Applicable
12 Nucleic Acid Synthesis Inhibitors Phase 2
13
Vidarabine Approved, Investigational Not Applicable 24356-66-9 32326 21704
14
Cyclophosphamide Approved, Investigational Not Applicable 6055-19-2, 50-18-0 2907
15
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
16
Mesna Approved, Investigational Not Applicable 3375-50-6 598
17 Antiviral Agents Not Applicable
18 Antirheumatic Agents Not Applicable
19 Protective Agents Not Applicable
20 Anti-Infective Agents Not Applicable

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 Patients Treated for SCID (1968-Present) Recruiting NCT01346150
4 Natural History Study of SCID Disorders Recruiting NCT01186913
5 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Not Applicable 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

Anatomical Context for Omenn Syndrome

MalaCards organs/tissues related to Omenn Syndrome:

41
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 86)
# Title Authors Year
1
Topical Hypochlorite and Skin Acidification Improves Erythroderma of Omenn Syndrome. ( 29610161 )
2018
2
Omenn Syndrome Presenting with Striking Erythroderma and Extreme Lymphocytosis in a Newborn. ( 27862277 )
2017
3
Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome. ( 28414192 )
2017
4
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
5
Omenn Syndrome and DNA recombination defects. ( 28747605 )
2017
6
Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine). ( 26596586 )
2016
7
Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis. ( 27081423 )
2016
8
Cyclosporin treatment improves skin findings in omenn syndrome. ( 25727345 )
2015
9
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency. ( 26289640 )
2015
10
Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome. ( 26476733 )
2015
11
Compound heterozygous mutation of rag1 leading to omenn syndrome. ( 25849362 )
2015
12
RAG1 reversion mosaicism in a patient with omenn syndrome. ( 24817258 )
2014
13
Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias. ( 24759676 )
2014
14
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience. ( 24290292 )
2013
15
Omenn syndrome: two case reports. ( 24476615 )
2013
16
First reported case of Omenn syndrome in a patient with reticular dysgenesis. ( 23014587 )
2013
17
From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family. ( 22882342 )
2012
18
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. ( 22841008 )
2012
19
Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. ( 25954555 )
2012
20
Anti-CD3I/ mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications. ( 22723555 )
2012
21
A double cure: Omenn syndrome and I^ thalassaemia successfully treated with mismatched unrelated donor transplantation. ( 21602897 )
2012
22
Possible role of Artemis c.512C&amp;gt;G polymorphic variant in Omenn syndrome. ( 21030322 )
2011
23
Omenn syndrome does not live by V(D)J recombination alone. ( 22001740 )
2011
24
Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. ( 21771083 )
2011
25
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. ( 21624848 )
2011
26
Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. ( 20547828 )
2010
27
Decrease of skin infiltrating and circulating CCR10+ T cells coincides with clinical improvement after topical tacrolimus in Omenn syndrome. ( 19609312 )
2010
28
Igf-I stimulates in vivo thymopoiesis after stem cell transplantation in a child with Omenn syndrome. ( 19777327 )
2010
29
Prominent eosinophilia but less eosinophil activation in a patient with Omenn syndrome. ( 20958863 )
2010
30
Defect of regulatory T cells in patients with Omenn syndrome. ( 20109747 )
2010
31
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
32
Rapid full engraftment and successful immune reconstitution after allogeneic hematopoietic stem cell transplantation with reduced intensity conditioning in Omenn syndrome. ( 18992055 )
2009
33
Matched unrelated bone marrow transplant for Omenn syndrome. ( 18854956 )
2009
34
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. ( 19912631 )
2009
35
Omenn syndrome due to mutation of the RAG2 gene. ( 19470080 )
2009
36
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
37
Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome. ( 19064334 )
2009
38
Novel presentation of Omenn syndrome in association with aniridia. ( 19178939 )
2009
39
Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency. ( 18822103 )
2009
40
Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells. ( 19767069 )
2009
41
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
42
Omenn syndrome with mutation in RAG1 gene. ( 19011808 )
2008
43
Adenosine deaminase deficiency can present with features of Omenn syndrome. ( 18243287 )
2008
44
Omenn syndrome is associated with mutations in DNA ligase IV. ( 18845326 )
2008
45
Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome. ( 18559672 )
2008
46
Omenn syndrome: inflammation in leaky severe combined immunodeficiency. ( 18992930 )
2008
47
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
48
A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction. ( 18768869 )
2008
49
A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. ( 17476358 )
2007
50
Bone marrow transplantation without conditioning regimen in Omenn syndrome: a case report. ( 17976129 )
2007

Variations for Omenn Syndrome

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

75 (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 top 50) (show all 374)
# Gene Variation Type Significance SNP ID Assembly Location
1 DCLRE1C NM_001033855.2(DCLRE1C): c.103C> G (p.His35Asp) single nucleotide variant Pathogenic rs121908159 GRCh37 Chromosome 10, 14995907: 14995907
2 DCLRE1C NM_001033855.2(DCLRE1C): c.103C> G (p.His35Asp) single nucleotide variant Pathogenic rs121908159 GRCh38 Chromosome 10, 14953908: 14953908
3 DCLRE1C NM_001033855.2(DCLRE1C): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121908158 GRCh37 Chromosome 10, 14996008: 14996008
4 DCLRE1C NM_001033855.2(DCLRE1C): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121908158 GRCh38 Chromosome 10, 14954009: 14954009
5 RAG2 NM_000536.3(RAG2): c.686G> A (p.Arg229Gln) single nucleotide variant Uncertain significance rs121917894 GRCh37 Chromosome 11, 36615033: 36615033
6 RAG2 NM_000536.3(RAG2): c.686G> A (p.Arg229Gln) single nucleotide variant Uncertain significance rs121917894 GRCh38 Chromosome 11, 36593483: 36593483
7 RAG2 NM_000536.3(RAG2): c.123C> G (p.Cys41Trp) single nucleotide variant Likely pathogenic rs121917895 GRCh37 Chromosome 11, 36615596: 36615596
8 RAG2 NM_000536.3(RAG2): c.123C> G (p.Cys41Trp) single nucleotide variant Likely pathogenic rs121917895 GRCh38 Chromosome 11, 36594046: 36594046
9 RAG2 NM_000536.3(RAG2): c.854T> G (p.Met285Arg) single nucleotide variant Likely pathogenic rs121917896 GRCh37 Chromosome 11, 36614865: 36614865
10 RAG2 NM_000536.3(RAG2): c.854T> G (p.Met285Arg) single nucleotide variant Likely pathogenic rs121917896 GRCh38 Chromosome 11, 36593315: 36593315
11 RAG2 NM_001243785.1(RAG2): c.283G> A (p.Gly95Arg) single nucleotide variant Likely pathogenic rs36001797 GRCh37 Chromosome 11, 36615436: 36615436
12 RAG2 NM_001243785.1(RAG2): c.283G> A (p.Gly95Arg) single nucleotide variant Likely pathogenic rs36001797 GRCh38 Chromosome 11, 36593886: 36593886
13 RAG2 NM_000536.3(RAG2): c.644C> T (p.Thr215Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35691292 GRCh37 Chromosome 11, 36615075: 36615075
14 RAG2 NM_000536.3(RAG2): c.644C> T (p.Thr215Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35691292 GRCh38 Chromosome 11, 36593525: 36593525
15 RAG2 NM_000536.3(RAG2): c.115A> G (p.Arg39Gly) single nucleotide variant Likely pathogenic rs121917897 GRCh37 Chromosome 11, 36615604: 36615604
16 RAG2 NM_000536.3(RAG2): c.115A> G (p.Arg39Gly) single nucleotide variant Likely pathogenic rs121917897 GRCh38 Chromosome 11, 36594054: 36594054
17 RAG1 NM_000448.2(RAG1): c.1682G> A (p.Arg561His) single nucleotide variant Pathogenic rs104894284 GRCh37 Chromosome 11, 36596536: 36596536
18 RAG1 NM_000448.2(RAG1): c.1682G> A (p.Arg561His) single nucleotide variant Pathogenic rs104894284 GRCh38 Chromosome 11, 36574986: 36574986
19 RAG1 NM_000448.2(RAG1): c.1186C> T (p.Arg396Cys) single nucleotide variant Pathogenic rs104894289 GRCh37 Chromosome 11, 36596040: 36596040
20 RAG1 NM_000448.2(RAG1): c.1186C> T (p.Arg396Cys) single nucleotide variant Pathogenic rs104894289 GRCh38 Chromosome 11, 36574490: 36574490
21 RAG1 NM_000448.2(RAG1): c.2735A> G (p.Tyr912Cys) single nucleotide variant Pathogenic rs104894290 GRCh37 Chromosome 11, 36597589: 36597589
22 RAG1 NM_000448.2(RAG1): c.2735A> G (p.Tyr912Cys) single nucleotide variant Pathogenic rs104894290 GRCh38 Chromosome 11, 36576039: 36576039
23 RAG1 NM_000448.2(RAG1): c.1187G> A (p.Arg396His) single nucleotide variant Pathogenic rs104894291 GRCh37 Chromosome 11, 36596041: 36596041
24 RAG1 NM_000448.2(RAG1): c.1187G> A (p.Arg396His) single nucleotide variant Pathogenic rs104894291 GRCh38 Chromosome 11, 36574491: 36574491
25 RAG1 NM_000448.2(RAG1): c.1286A> G (p.Asp429Gly) single nucleotide variant Pathogenic rs104894292 GRCh37 Chromosome 11, 36596140: 36596140
26 RAG1 NM_000448.2(RAG1): c.1286A> G (p.Asp429Gly) single nucleotide variant Pathogenic rs104894292 GRCh38 Chromosome 11, 36574590: 36574590
27 RAG1 NM_000448.2(RAG1): c.1681C> T (p.Arg561Cys) single nucleotide variant Pathogenic rs104894285 GRCh37 Chromosome 11, 36596535: 36596535
28 RAG1 NM_000448.2(RAG1): c.1681C> T (p.Arg561Cys) single nucleotide variant Pathogenic rs104894285 GRCh38 Chromosome 11, 36574985: 36574985
29 RAG1 NM_000448.2(RAG1): c.2210G> A (p.Arg737His) single nucleotide variant Pathogenic rs104894286 GRCh37 Chromosome 11, 36597064: 36597064
30 RAG1 NM_000448.2(RAG1): c.2210G> A (p.Arg737His) single nucleotide variant Pathogenic rs104894286 GRCh38 Chromosome 11, 36575514: 36575514
31 RAG1 RAG1, 13-BP DEL, NT1723 deletion Pathogenic
32 RAG1 RAG1, 2-BP DEL, 368AA deletion Pathogenic
33 RAG1 RAG1, 1-BP DEL, 887A deletion Pathogenic
34 RAG1 RAG1, 1-BP DEL, 631T deletion Pathogenic
35 RAG1 NM_000448.2(RAG1): c.983G> A (p.Cys328Tyr) single nucleotide variant Pathogenic rs121918571 GRCh37 Chromosome 11, 36595837: 36595837
36 RAG1 NM_000448.2(RAG1): c.983G> A (p.Cys328Tyr) single nucleotide variant Pathogenic rs121918571 GRCh38 Chromosome 11, 36574287: 36574287
37 DCLRE1C NM_001033857.2(DCLRE1C): c.152C> G (p.Pro51Arg) single nucleotide variant Benign/Likely benign rs35441642 GRCh37 Chromosome 10, 14976727: 14976727
38 DCLRE1C NM_001033857.2(DCLRE1C): c.152C> G (p.Pro51Arg) single nucleotide variant Benign/Likely benign rs35441642 GRCh38 Chromosome 10, 14934728: 14934728
39 DCLRE1C NM_001033857.2(DCLRE1C): c.283C> T (p.Leu95=) single nucleotide variant Benign rs7076862 GRCh37 Chromosome 10, 14976414: 14976414
40 DCLRE1C NM_001033857.2(DCLRE1C): c.283C> T (p.Leu95=) single nucleotide variant Benign rs7076862 GRCh38 Chromosome 10, 14934415: 14934415
41 RAG1 NM_000448.2(RAG1): c.189A> G (p.Pro63=) single nucleotide variant Benign/Likely benign rs34357808 GRCh37 Chromosome 11, 36595043: 36595043
42 RAG1 NM_000448.2(RAG1): c.189A> G (p.Pro63=) single nucleotide variant Benign/Likely benign rs34357808 GRCh38 Chromosome 11, 36573493: 36573493
43 RAG1 NM_000448.2(RAG1): c.2904C> A (p.Asn968Lys) single nucleotide variant Likely pathogenic rs193922463 GRCh37 Chromosome 11, 36597758: 36597758
44 RAG1 NM_000448.2(RAG1): c.2904C> A (p.Asn968Lys) single nucleotide variant Likely pathogenic rs193922463 GRCh38 Chromosome 11, 36576208: 36576208
45 RAG1 NM_000448.2(RAG1): c.906C> A (p.Asp302Glu) single nucleotide variant Benign/Likely benign rs4151030 GRCh37 Chromosome 11, 36595760: 36595760
46 RAG1 NM_000448.2(RAG1): c.906C> A (p.Asp302Glu) single nucleotide variant Benign/Likely benign rs4151030 GRCh38 Chromosome 11, 36574210: 36574210
47 RAG2 NM_000536.3(RAG2): c.1247G> T (p.Trp416Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs193922572 GRCh37 Chromosome 11, 36614472: 36614472
48 RAG2 NM_000536.3(RAG2): c.1247G> T (p.Trp416Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs193922572 GRCh38 Chromosome 11, 36592922: 36592922
49 DCLRE1C NM_001033855.2(DCLRE1C): c.959C> G (p.Ser320Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs41298896 GRCh37 Chromosome 10, 14968855: 14968855
50 DCLRE1C NM_001033855.2(DCLRE1C): c.959C> G (p.Ser320Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs41298896 GRCh38 Chromosome 10, 14926856: 14926856

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 46)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.03 CARD11 IFNG IFNGR1 IL10 IL1RN IL2RG
2
Show member pathways
13.68 IFNG IFNGR1 IL10 IL1RN IL2RG IL4
3
Show member pathways
13.53 IFNG IFNGR1 IL10 IL2RG IL4 IL5
4
Show member pathways
13.28 IFNG IFNGR1 IL10 IL1RN IL2RG IL4
5
Show member pathways
12.89 CARD11 FOXP3 IFNG IFNGR1 IL10 IL4
6 12.83 IFNG IFNGR1 IL2RG IL4 IL5 IL7R
7
Show member pathways
12.78 IFNG IFNGR1 IL2RG IL4 TNF
8
Show member pathways
12.65 CARD11 IFNG IFNGR1 IL10 IL4 TNF
9
Show member pathways
12.51 FOXP3 IFNG IFNGR1 IL10 IL2RG IL4
10
Show member pathways
12.46 CARD11 IFNG IL10 IL4 IL5 TNF
11
Show member pathways
12.37 IFNG IFNGR1 IL10 IL2RG IL4 IL5
12
Show member pathways
12.32 IFNG IL4 IL5 TNF
13 12.32 CARD11 DCLRE1C FOXP3 IFNG IL10 IL1RN
14
Show member pathways
12.27 IFNG IFNGR1 IL10 IL4 TNF
15
Show member pathways
12.26 IFNG IL10 IL4 IL5 TNF
16 12.22 IFNG IFNGR1 IL10 TNF
17
Show member pathways
12.18 IFNG IFNGR1 IL4 TNF
18
Show member pathways
12.1 IFNG IFNGR1 IL10 IL2RG TNF
19
Show member pathways
12.09 IL10 IL7R RAG1 RAG2
20
Show member pathways
12.09 IFNG IFNGR1 IL10 IL2RG IL4 IL5
21 11.99 IL10 IL2RG IL4 TNF
22 11.95 IFNG IL10 IL4 IL5 IL7R TNF
23 11.91 IL4 IL5 IL7R TNF
24 11.88 IFNG IFNGR1 IL10 IL7R
25 11.86 IFNG IL10 TNF
26 11.79 IFNG IL4 IL5
27 11.78 IFNG IL10 IL7R TNF
28
Show member pathways
11.77 FOXP3 IFNG IL4 IL5 TNF
29 11.73 IFNG IL10 IL1RN IL4 TNF
30 11.7 IL10 IL2RG IL4 IL5
31 11.7 IFNG IL10 IL4 IL5 IL7R TNF
32
Show member pathways
11.69 FOXP3 IL2RG IL4
33 11.65 IL4 IL5 TNF
34
Show member pathways
11.64 IFNG IL2RG TNF
35 11.58 IL10 IL1RN IL4 TNF
36
Show member pathways
11.54 IFNG IFNGR1 TNF
37 11.53 IFNG IL10 TNF
38 11.39 IFNG IL2RG IL4 IL5
39 11.36 IFNG IL10 TNF
40 11.36 IFNG IL4 IL5 TNF
41 11.27 IL2RG IL7R RAG1 RAG2
42 11.23 IFNG IL10 IL4 IL5
43 11.2 IL10 IL4 IL5 TNF
44 11.12 IFNG IL10 IL4 IL5 TNF
45 11.1 FOXP3 IFNG IL10 IL2RG IL4 IL5
46 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 nonhomologous end joining complex GO:0070419 8.62 DCLRE1C LIG4

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

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.93 IFNG IL10 IL1RN IL4 IL5 TNF
2 response to glucocorticoid GO:0051384 9.82 IL10 IL1RN TNF
3 response to virus GO:0009615 9.81 FOXP3 IFNG IFNGR1 TNF
4 humoral immune response GO:0006959 9.8 AIRE IFNG TNF
5 DNA recombination GO:0006310 9.8 DCLRE1C LIG4 RAG1 RAG2
6 T cell differentiation GO:0030217 9.76 CHD7 IL7R RAG2
7 cytokine-mediated signaling pathway GO:0019221 9.76 IFNGR1 IL10 IL1RN IL2RG IL4 IL5
8 B cell proliferation GO:0042100 9.72 CARD11 IL10 IL7R
9 T cell differentiation in thymus GO:0033077 9.71 LIG4 RAG1 RAG2
10 negative regulation of interleukin-6 production GO:0032715 9.7 FOXP3 IL10 TNF
11 negative regulation of growth of symbiont in host GO:0044130 9.68 IL10 TNF
12 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.67 IL10 TNF
13 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.67 IFNG IFNGR1
14 negative regulation of interleukin-17 production GO:0032700 9.67 FOXP3 IFNG
15 T cell activation GO:0042110 9.67 ADA CARD11 FOXP3 IL4
16 positive regulation of podosome assembly GO:0071803 9.66 IL5 TNF
17 negative regulation of heterotypic cell-cell adhesion GO:0034115 9.66 IL10 IL1RN
18 positive regulation of T cell differentiation in thymus GO:0033089 9.65 ADA IL7R
19 negative regulation of T cell apoptotic process GO:0070233 9.65 IL7R RAG1
20 endothelial cell apoptotic process GO:0072577 9.64 IL10 TNF
21 negative regulation of thymocyte apoptotic process GO:0070244 9.64 ADA RAG1
22 positive regulation of MHC class II biosynthetic process GO:0045348 9.63 IL10 IL4
23 negative regulation of cytokine secretion involved in immune response GO:0002740 9.62 IL10 TNF
24 positive regulation of B cell proliferation GO:0030890 9.62 ADA CARD11 IL4 IL5
25 chronic inflammatory response to antigenic stimulus GO:0002439 9.61 IL1RN TNF
26 positive regulation of T cell differentiation GO:0045582 9.61 ADA IL4 RAG1
27 regulation of isotype switching GO:0045191 9.6 IL10 IL4
28 type 2 immune response GO:0042092 9.59 IL10 IL4
29 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.58 IFNG TNF
30 regulation of T cell differentiation GO:0045580 9.58 ADA CARD11 RAG1
31 pre-B cell allelic exclusion GO:0002331 9.57 RAG1 RAG2
32 receptor biosynthetic process GO:0032800 9.56 IL10 TNF
33 V(D)J recombination GO:0033151 9.56 DCLRE1C LIG4 RAG1 RAG2
34 positive regulation of vitamin D biosynthetic process GO:0060557 9.48 IFNG TNF
35 B cell differentiation GO:0030183 9.43 CARD11 DCLRE1C IL10 IL4 RAG1 RAG2
36 immune response GO:0006955 9.32 AIRE IFNG IL10 IL1RN IL2RG IL4
37 positive regulation of transcription, DNA-templated GO:0045893 10.09 AIRE FOXP3 IL10 IL4 IL5 TNF
38 positive regulation of gene expression GO:0010628 10.03 FOXP3 IFNG IL4 IL7R 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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