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OS
MCID: OMN001
MIFTS: 66

Omenn Syndrome (OS)

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Omenn Syndrome

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MalaCards integrated aliases for Omenn Syndrome:

Name: Omenn Syndrome 58 12 77 54 26 60 76 13 56 15 41 74
Severe Combined Immunodeficiency with Hypereosinophilia 58 54
Combined Immunodeficiency with Hypereosinophilia 12 60
Histiocytic Medullary Reticulosis 26 74
Reticuloendotheliosis, Familial, with Eosinophilia 58
Reticuloendotheliosis Familial with Eosinophilia 54
Familial Reticuloendotheliosis 26
Malignant Histiocytosis 74
Omenn's Syndrome 26
Os 76

Characteristics:

Orphanet epidemiological data:

60
omenn syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
omenn syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases Skin diseases Liver diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare immunological diseases


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Summaries for Omenn Syndrome

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NIH Rare Diseases : 54 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 DCLRE1C (DNA Cross-Link Repair 1C), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Hydroxyurea and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include t cells, skin and b cells, and related phenotypes are failure to thrive and hepatomegaly

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 : 26 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 : 76 Omenn syndrome: Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels.

Wikipedia : 77 Omenn syndrome is an autosomal recessive severe combined immunodeficiency. It is associated with... more...

Description from OMIM: 603554
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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 411)
# Related Disease Score Top Affiliating Genes
1 malignant histiocytosis 33.9 DCLRE1C RAG1 RAG2
2 hematopoietic stem cell transplantation 30.8 IFNG IL10 TNF
3 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.5 AIRE FOXP3 IFNG IL10 RAG1
4 combined t cell and b cell immunodeficiency 30.4 ADA DCLRE1C IL2RG IL7R LIG4 RAG1
5 lymphopenia 30.1 FOXP3 IFNG IL2RG IL7R RAG1
6 severe combined immunodeficiency, x-linked 29.9 ADA IL2RG IL4 IL7R
7 demyelinating disease 29.8 IFNG IL10 IL7R TNF
8 severe combined immunodeficiency 29.8 ADA DCLRE1C IFNG IL2RG IL4 IL7R
9 arthritis 29.8 IFNG IL10 IL1RN TNF
10 multiple sclerosis 29.8 FOXP3 IFNG IL10 IL4 IL7R TNF
11 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 29.7 AIRE FOXP3 IFNG IL10 IL4 IL7R
12 pericarditis 29.7 ADA IFNG IL1RN TNF
13 tetanus 29.7 IFNG IL10 IL4 IL5
14 neuritis 29.6 IFNG IL4 TNF
15 rheumatoid arthritis 29.4 FOXP3 IFNG IL10 IL1RN IL4 TNF
16 virus associated hemophagocytic syndrome 11.5
17 osteogenic sarcoma 11.4
18 opitz gbbb syndrome, type i 11.3
19 short syndrome 11.3
20 cervix disease 11.2
21 baculum, congenital absence of 11.1
22 early infantile epileptic encephalopathy 11.1
23 osteitis fibrosa 11.1
24 adenosarcoma of the uterus 11.1
25 jamaican vomiting sickness 11.1
26 ohtahara syndrome 11.1
27 leukemia 10.6
28 lymphocytic leukemia 10.6
29 histiocytosis 10.6
30 polymorphic reticulosis 10.6
31 sporotrichosis 10.6 IFNG IL10
32 eosinophilic fasciitis 10.5 IFNG IL5
33 autoimmune atherosclerosis 10.5 FOXP3 IL10
34 acute necrotizing encephalitis 10.5 FOXP3 IFNG
35 pouchitis 10.5 IL10 IL1RN
36 multifocal choroiditis 10.5 IL10 TNF
37 autoimmune myocarditis 10.5 IFNG TNF
38 leukemia, acute lymphoblastic 10.5
39 staphylococcal toxic shock syndrome 10.5 IFNG TNF
40 angioimmunoblastic lymphadenopathy with dysproteinemia 10.5 IL5 TNF
41 juvenile ankylosing spondylitis 10.5 IL1RN TNF
42 thyroiditis 10.4
43 lymphomatous thyroiditis 10.4
44 recombinase activating gene 1 deficiency 10.4 RAG1 RAG2
45 b-cell growth factor 10.4 IFNG IL4
46 graft-versus-host disease 10.4 IFNG IL10 TNF
47 chagas disease 10.4 IFNG IL10 TNF
48 cephalosporin allergy 10.4 IFNG IL10 IL5
49 plasmodium falciparum malaria 10.4 IFNG IL10 TNF
50 rheumatic disease 10.4 IFNG IL10 TNF

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



Diseases related to Omenn Syndrome
Sources

Symptoms & Phenotypes for Omenn Syndrome

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Human phenotypes related to Omenn Syndrome:

60 33 (show all 37)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508
2 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
3 alopecia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001596
4 chronic diarrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0002028
5 lymphadenopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0002716
6 erythroderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001019
7 severe combined immunodeficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0004430
8 abnormal lymphocyte morphology 33 hallmark (90%) HP:0004332
9 splenomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0001744
10 fever 60 33 frequent (33%) Frequent (79-30%) HP:0001945
11 edema 60 33 frequent (33%) Frequent (79-30%) HP:0000969
12 pruritus 60 33 frequent (33%) Frequent (79-30%) HP:0000989
13 dry skin 60 33 frequent (33%) Frequent (79-30%) HP:0000958
14 thickened skin 60 33 frequent (33%) Frequent (79-30%) HP:0001072
15 pneumonia 60 33 frequent (33%) Frequent (79-30%) HP:0002090
16 aplasia/hypoplasia of the eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0100840
17 eosinophilia 60 33 frequent (33%) Frequent (79-30%) HP:0001880
18 desquamation of skin soon after birth 60 33 frequent (33%) Frequent (79-30%) HP:0007549
19 hypothyroidism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000821
20 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
21 abnormality of the metaphysis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000944
22 short toe 60 33 occasional (7.5%) Occasional (29-5%) HP:0001831
23 autoimmunity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002960
24 thyroiditis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100646
25 nephrotic syndrome 60 33 occasional (7.5%) Occasional (29-5%) HP:0000100
26 sepsis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100806
27 lymphoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0002665
28 thrombocytopenia 33 HP:0001873
29 hypoplasia of the thymus 33 HP:0000778
30 leukocytosis 60 Frequent (79-30%)
31 diarrhea 33 HP:0002014
32 recurrent bacterial infections 33 HP:0002718
33 recurrent viral infections 33 HP:0004429
34 recurrent fungal infections 33 HP:0002841
35 hypoproteinemia 33 HP:0003075
36 abnormality of lymphocytes 60 Very frequent (99-80%)
37 severe b lymphocytopenia 33 HP:0005365

Symptoms via clinical synopsis from OMIM:

58
Growth Other:
failure to thrive

Abdomen Liver:
hepatomegaly

Skin Nails Hair Hair:
alopecia

Respiratory Lung:
pneumonia

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

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
Skin Nails Hair Skin:
pachydermia
generalized erythrodermia

Clinical features from OMIM:

603554

UMLS symptoms related to Omenn Syndrome:


diarrhea

MGI Mouse Phenotypes related to Omenn Syndrome:

47 (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 digestive/alimentary MP:0005381 10.46 ADA AIRE CHD7 EFNA5 FOXP3 IFNG
6 homeostasis/metabolism MP:0005376 10.44 ADA AIRE CARD11 CHD7 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
Sources

Drugs & Therapeutics for Omenn Syndrome

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxyurea Approved Phase 2,Phase 1 127-07-1 3657
2
Melphalan Approved Phase 2,Phase 1,Not Applicable 148-82-3 460612 4053
3
alemtuzumab Approved, Investigational Phase 2,Phase 1,Not Applicable 216503-57-0
4
Fludarabine Approved Phase 2,Phase 1,Not Applicable 75607-67-9, 21679-14-1 30751
5
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
6 Immunosuppressive Agents Phase 2,Not Applicable
7 Antineoplastic Agents, Alkylating Phase 2,Not Applicable
8 Antineoplastic Agents, Immunological Phase 2,Not Applicable
9 Nucleic Acid Synthesis Inhibitors Phase 2
10 Antimetabolites, Antineoplastic Phase 2,Not Applicable
11 Antimetabolites Phase 2,Not Applicable
12 Immunologic Factors Phase 2,Not Applicable
13 Alkylating Agents Phase 2,Not Applicable
14
Adenosine Approved, Investigational 58-61-7 60961
15
Busulfan Approved, Investigational Not Applicable 55-98-1 2478
16
Vidarabine Approved, Investigational Not Applicable 24356-66-9 21704 32326
17
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
18
Mesna Approved, Investigational Not Applicable 3375-50-6 598
19 Anti-Infective Agents Not Applicable
20 Protective Agents Not Applicable
21 Antirheumatic Agents Not Applicable
22 Antiviral 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

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Genetic Tests for Omenn Syndrome

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Anatomical Context for Omenn Syndrome

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MalaCards organs/tissues related to Omenn Syndrome:

42
T Cells, Skin, B Cells, Bone, Bone Marrow, Lymph Node, Thyroid
Sources

Publications for Omenn Syndrome

About this section

Articles related to Omenn Syndrome:

(show top 50) (show all 93)
# Title Authors Year
1
Refining the dermatological spectrum in primary immunodeficiency: MALT1 deficiency mimicking Netherton- and Omenn syndrome. ( 31049936 )
2019
2
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 )
2018
3
Topical Hypochlorite and Skin Acidification Improves Erythroderma of Omenn Syndrome. ( 29610161 )
2018
4
Omenn Syndrome Presenting with Striking Erythroderma and Extreme Lymphocytosis in a Newborn. ( 27862277 )
2017
5
Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome. ( 28414192 )
2017
6
Omenn Syndrome and DNA recombination defects. ( 28747605 )
2017
7
Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome. ( 26476733 )
2016
8
Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine). ( 26596586 )
2016
9
Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis. ( 27081423 )
2016
10
Cyclosporin treatment improves skin findings in omenn syndrome. ( 25727345 )
2015
11
Compound heterozygous mutation of Rag1 leading to Omenn syndrome. ( 25849362 )
2015
12
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency. ( 26289640 )
2015
13
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience. ( 24290292 )
2014
14
Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias. ( 24759676 )
2014
15
RAG1 reversion mosaicism in a patient with Omenn syndrome. ( 24817258 )
2014
16
First reported case of Omenn syndrome in a patient with reticular dysgenesis. ( 23014587 )
2013
17
Omenn syndrome: two case reports. ( 24476615 )
2013
18
Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. ( 25954555 )
2012
19
A double cure: Omenn syndrome and β thalassaemia successfully treated with mismatched unrelated donor transplantation. ( 21602897 )
2012
20
Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications. ( 22723555 )
2012
21
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. ( 22841008 )
2012
22
From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family. ( 22882342 )
2012
23
Possible role of Artemis c.512C>G polymorphic variant in Omenn syndrome. ( 21030322 )
2011
24
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. ( 21624848 )
2011
25
Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. ( 21771083 )
2011
26
Omenn syndrome does not live by V(D)J recombination alone. ( 22001740 )
2011
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
Defect of regulatory T cells in patients with Omenn syndrome. ( 20109747 )
2010
30
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
31
Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. ( 20547828 )
2010
32
Prominent eosinophilia but less eosinophil activation in a patient with Omenn syndrome. ( 20958863 )
2010
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
Rapid full engraftment and successful immune reconstitution after allogeneic hematopoietic stem cell transplantation with reduced intensity conditioning in Omenn syndrome. ( 18992055 )
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
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
40
Omenn syndrome due to mutation of the RAG2 gene. ( 19470080 )
2009
41
Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells. ( 19767069 )
2009
42
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. ( 19912631 )
2009
43
Adenosine deaminase deficiency can present with features of Omenn syndrome. ( 18243287 )
2008
44
Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome. ( 18559672 )
2008
45
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
46
A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction. ( 18768869 )
2008
47
Omenn syndrome is associated with mutations in DNA ligase IV. ( 18845326 )
2008
48
Omenn syndrome: inflammation in leaky severe combined immunodeficiency. ( 18992930 )
2008
49
Omenn syndrome with mutation in RAG1 gene. ( 19011808 )
2008
50
Omenn syndrome: a rare case of neonatal erythroderma. ( 17337397 )
2007
Sources

Variations for Omenn Syndrome

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

76 (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 386)
# Gene Variation Type Significance SNP ID Assembly Location
1 DCLRE1C NM_001033855.1(DCLRE1C): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic rs121908156 GRCh37 Chromosome 10, 14987109: 14987109
2 DCLRE1C NM_001033855.1(DCLRE1C): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic rs121908156 GRCh38 Chromosome 10, 14945110: 14945110
3 DCLRE1C NM_001033855.2(DCLRE1C): c.103C> G (p.His35Asp) single nucleotide variant Pathogenic rs121908159 GRCh37 Chromosome 10, 14995907: 14995907
4 DCLRE1C NM_001033855.2(DCLRE1C): c.103C> G (p.His35Asp) single nucleotide variant Pathogenic rs121908159 GRCh38 Chromosome 10, 14953908: 14953908
5 DCLRE1C NM_001033855.2(DCLRE1C): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121908158 GRCh37 Chromosome 10, 14996008: 14996008
6 DCLRE1C NM_001033855.2(DCLRE1C): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs121908158 GRCh38 Chromosome 10, 14954009: 14954009
7 RAG2 NM_000536.3(RAG2): c.686G> A (p.Arg229Gln) single nucleotide variant Uncertain significance rs121917894 GRCh37 Chromosome 11, 36615033: 36615033
8 RAG2 NM_000536.3(RAG2): c.686G> A (p.Arg229Gln) single nucleotide variant Uncertain significance rs121917894 GRCh38 Chromosome 11, 36593483: 36593483
9 RAG2 NM_000536.3(RAG2): c.123C> G (p.Cys41Trp) single nucleotide variant Likely pathogenic rs121917895 GRCh37 Chromosome 11, 36615596: 36615596
10 RAG2 NM_000536.3(RAG2): c.123C> G (p.Cys41Trp) single nucleotide variant Likely pathogenic rs121917895 GRCh38 Chromosome 11, 36594046: 36594046
11 RAG2 NM_000536.3(RAG2): c.854T> G (p.Met285Arg) single nucleotide variant Likely pathogenic rs121917896 GRCh37 Chromosome 11, 36614865: 36614865
12 RAG2 NM_000536.3(RAG2): c.854T> G (p.Met285Arg) single nucleotide variant Likely pathogenic rs121917896 GRCh38 Chromosome 11, 36593315: 36593315
13 RAG2 NM_001243785.1(RAG2): c.283G> A (p.Gly95Arg) single nucleotide variant Likely pathogenic rs36001797 GRCh37 Chromosome 11, 36615436: 36615436
14 RAG2 NM_001243785.1(RAG2): c.283G> A (p.Gly95Arg) single nucleotide variant Likely pathogenic rs36001797 GRCh38 Chromosome 11, 36593886: 36593886
15 RAG2 NM_000536.3(RAG2): c.644C> T (p.Thr215Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35691292 GRCh37 Chromosome 11, 36615075: 36615075
16 RAG2 NM_000536.3(RAG2): c.644C> T (p.Thr215Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs35691292 GRCh38 Chromosome 11, 36593525: 36593525
17 RAG2 NM_000536.3(RAG2): c.115A> G (p.Arg39Gly) single nucleotide variant Likely pathogenic rs121917897 GRCh37 Chromosome 11, 36615604: 36615604
18 RAG2 NM_000536.3(RAG2): c.115A> G (p.Arg39Gly) single nucleotide variant Likely pathogenic rs121917897 GRCh38 Chromosome 11, 36594054: 36594054
19 RAG1 NM_000448.2(RAG1): c.1682G> A (p.Arg561His) single nucleotide variant Pathogenic rs104894284 GRCh37 Chromosome 11, 36596536: 36596536
20 RAG1 NM_000448.2(RAG1): c.1682G> A (p.Arg561His) single nucleotide variant Pathogenic rs104894284 GRCh38 Chromosome 11, 36574986: 36574986
21 RAG1 NM_000448.2(RAG1): c.1186C> T (p.Arg396Cys) single nucleotide variant Pathogenic rs104894289 GRCh37 Chromosome 11, 36596040: 36596040
22 RAG1 NM_000448.2(RAG1): c.1186C> T (p.Arg396Cys) single nucleotide variant Pathogenic rs104894289 GRCh38 Chromosome 11, 36574490: 36574490
23 RAG1 NM_000448.2(RAG1): c.2735A> G (p.Tyr912Cys) single nucleotide variant Pathogenic rs104894290 GRCh37 Chromosome 11, 36597589: 36597589
24 RAG1 NM_000448.2(RAG1): c.2735A> G (p.Tyr912Cys) single nucleotide variant Pathogenic rs104894290 GRCh38 Chromosome 11, 36576039: 36576039
25 RAG1 NM_000448.2(RAG1): c.1187G> A (p.Arg396His) single nucleotide variant Pathogenic rs104894291 GRCh37 Chromosome 11, 36596041: 36596041
26 RAG1 NM_000448.2(RAG1): c.1187G> A (p.Arg396His) single nucleotide variant Pathogenic rs104894291 GRCh38 Chromosome 11, 36574491: 36574491
27 RAG1 NM_000448.2(RAG1): c.1286A> G (p.Asp429Gly) single nucleotide variant Pathogenic rs104894292 GRCh37 Chromosome 11, 36596140: 36596140
28 RAG1 NM_000448.2(RAG1): c.1286A> G (p.Asp429Gly) single nucleotide variant Pathogenic rs104894292 GRCh38 Chromosome 11, 36574590: 36574590
29 RAG1 NM_000448.2(RAG1): c.1681C> T (p.Arg561Cys) single nucleotide variant Pathogenic rs104894285 GRCh37 Chromosome 11, 36596535: 36596535
30 RAG1 NM_000448.2(RAG1): c.1681C> T (p.Arg561Cys) single nucleotide variant Pathogenic rs104894285 GRCh38 Chromosome 11, 36574985: 36574985
31 RAG1 NM_000448.2(RAG1): c.2210G> A (p.Arg737His) single nucleotide variant Pathogenic rs104894286 GRCh37 Chromosome 11, 36597064: 36597064
32 RAG1 NM_000448.2(RAG1): c.2210G> A (p.Arg737His) single nucleotide variant Pathogenic rs104894286 GRCh38 Chromosome 11, 36575514: 36575514
33 RAG1 RAG1, 13-BP DEL, NT1723 deletion Pathogenic
34 RAG1 RAG1, 2-BP DEL, 368AA deletion Pathogenic
35 RAG1 RAG1, 1-BP DEL, 887A deletion Pathogenic
36 RAG1 RAG1, 1-BP DEL, 631T deletion Pathogenic
37 RAG1 NM_000448.2(RAG1): c.983G> A (p.Cys328Tyr) single nucleotide variant Pathogenic rs121918571 GRCh37 Chromosome 11, 36595837: 36595837
38 RAG1 NM_000448.2(RAG1): c.983G> A (p.Cys328Tyr) single nucleotide variant Pathogenic rs121918571 GRCh38 Chromosome 11, 36574287: 36574287
39 DCLRE1C NM_001033857.2(DCLRE1C): c.152C> G (p.Pro51Arg) single nucleotide variant Benign/Likely benign rs35441642 GRCh37 Chromosome 10, 14976727: 14976727
40 DCLRE1C NM_001033857.2(DCLRE1C): c.152C> G (p.Pro51Arg) single nucleotide variant Benign/Likely benign rs35441642 GRCh38 Chromosome 10, 14934728: 14934728
41 DCLRE1C NM_001033857.2(DCLRE1C): c.283C> T (p.Leu95=) single nucleotide variant Benign rs7076862 GRCh37 Chromosome 10, 14976414: 14976414
42 DCLRE1C NM_001033857.2(DCLRE1C): c.283C> T (p.Leu95=) single nucleotide variant Benign rs7076862 GRCh38 Chromosome 10, 14934415: 14934415
43 RAG1 NM_000448.2(RAG1): c.189A> G (p.Pro63=) single nucleotide variant Benign/Likely benign rs34357808 GRCh37 Chromosome 11, 36595043: 36595043
44 RAG1 NM_000448.2(RAG1): c.189A> G (p.Pro63=) single nucleotide variant Benign/Likely benign rs34357808 GRCh38 Chromosome 11, 36573493: 36573493
45 RAG1 NM_000448.2(RAG1): c.2904C> A (p.Asn968Lys) single nucleotide variant Likely pathogenic rs193922463 GRCh37 Chromosome 11, 36597758: 36597758
46 RAG1 NM_000448.2(RAG1): c.2904C> A (p.Asn968Lys) single nucleotide variant Likely pathogenic rs193922463 GRCh38 Chromosome 11, 36576208: 36576208
47 RAG1 NM_000448.2(RAG1): c.906C> A (p.Asp302Glu) single nucleotide variant Benign/Likely benign rs4151030 GRCh37 Chromosome 11, 36595760: 36595760
48 RAG1 NM_000448.2(RAG1): c.906C> A (p.Asp302Glu) single nucleotide variant Benign/Likely benign rs4151030 GRCh38 Chromosome 11, 36574210: 36574210
49 RAG2 NM_000536.3(RAG2): c.1247G> T (p.Trp416Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs193922572 GRCh37 Chromosome 11, 36614472: 36614472
50 RAG2 NM_000536.3(RAG2): c.1247G> T (p.Trp416Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs193922572 GRCh38 Chromosome 11, 36592922: 36592922
Sources

Expression for Omenn Syndrome

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Search GEO for disease gene expression data for Omenn Syndrome.
Sources

Pathways for Omenn Syndrome

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

(show all 45)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 67
Show member pathways
 14.03 CARD11 IFNG IFNGR1 IL10 IL1RN IL2RG
2
PEDF Induced Signaling 65
Show member pathways
 13.68 IFNG IFNGR1 IL10 IL1RN IL2RG IL4
3
TGF-Beta Pathway 65
Show member pathways
 13.53 IFNG IFNGR1 IL10 IL2RG IL4 IL5
4
Cytokine Signaling in Immune system 67
Show member pathways
 13.28 IFNG IFNGR1 IL10 IL1RN IL2RG IL4
5
Allograft rejection 38 1
Show member pathways
 12.89 CARD11 FOXP3 IFNG IFNGR1 IL10 IL4
6
Pathways in cancer 38
12.83 IFNG IFNGR1 IL2RG IL4 IL5 IL7R
7
Immune response NFAT in immune response 23
Show member pathways
 12.65 CARD11 IFNG IFNGR1 IL10 IL4 TNF
8
T cell receptor signaling pathway 38
Show member pathways
 12.59 CARD11 IFNG IL10 IL4 IL5 TNF
9
Th17 cell differentiation 38
Show member pathways
 12.51 FOXP3 IFNG IFNGR1 IL10 IL2RG IL4
10
JAK-STAT signaling pathway (KEGG) 66
Show member pathways
 12.37 IFNG IFNGR1 IL10 IL2RG IL4 IL5
11
IL-17 Family Signaling Pathways 66
Show member pathways
 12.32 IFNG IL4 IL5 TNF
12
NF-kappaB Signaling 4
12.32 CARD11 DCLRE1C FOXP3 IFNG IL10 IL1RN
13
Toxoplasmosis 38
Show member pathways
 12.27 IFNG IFNGR1 IL10 IL4 TNF
14
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 12.26 IFNG IL10 IL4 IL5 TNF
15
Tuberculosis 38
12.22 IFNG IFNGR1 IL10 TNF
16
Bacterial infections in CF airways 23
Show member pathways
 12.18 IFNG IFNGR1 IL4 TNF
17
Th1 Differentiation Pathway 66
Show member pathways
 12.1 IFNG IFNGR1 IL10 IL2RG TNF
18
FoxO signaling pathway 38
Show member pathways
 12.09 IL10 IL7R RAG1 RAG2
19
Immune response IFN gamma signaling pathway 23
Show member pathways
 12.09 IFNG IFNGR1 IL10 IL2RG IL4 IL5
20
Interleukin-4 and 13 signaling 67
11.99 IL10 IL2RG IL4 TNF
21
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 66
11.95 IFNG IL10 IL4 IL5 IL7R TNF
22
Hematopoietic cell lineage 38
11.91 IL4 IL5 IL7R TNF
23
Jak-Stat Signaling Pathway (sino) 68
11.88 IFNG IFNGR1 IL10 IL7R
24
Amoebiasis 38
11.85 IFNG IL10 TNF
25
Glucocorticoid receptor regulatory network 1
11.78 IFNG IL4 IL5
26
Dendritic Cells Developmental Lineage Pathway 66
11.78 IFNG IL10 IL7R TNF
27
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.77 FOXP3 IFNG IL4 IL5 TNF
28
Microglia Activation During Neuroinflammation: Microglia Polarization 66
11.73 IFNG IL10 IL1RN IL4 TNF
29
IL4-mediated signaling events 1
11.7 IL10 IL2RG IL4 IL5
30
Innate Lymphoid Cell Differentiation Pathways 66
11.7 IFNG IL10 IL4 IL5 IL7R TNF
31
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.69 FOXP3 IL2RG IL4
32
Lung fibrosis 1
11.65 IL4 IL5 TNF
33
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.64 IFNG IL2RG TNF
34
Interleukin-10 signaling 67
11.58 IL10 IL1RN IL4 TNF
35
Cellular Transformation by HTLV1 65
Show member pathways
 11.54 IFNG IFNGR1 TNF
36
Malaria 38
11.53 IFNG IL10 TNF
37
African trypanosomiasis 38
11.39 IFNG IL10 TNF
38
Inflammatory Response Pathway 1
11.39 IFNG IL2RG IL4 IL5
39
Development and heterogeneity of the ILC family 1
11.36 IFNG IL4 IL5 TNF
40
Interleukin-7 signaling 67
11.27 IL2RG IL7R RAG1 RAG2
41
OX40 Pathway 65
11.23 IFNG IL10 IL4 IL5
42
G-protein signaling_RhoB regulation pathway 23
11.2 IL10 IL4 IL5 TNF
43
Cytokines and Inflammatory Response 1
11.12 IFNG IL10 IL4 IL5 TNF
44
Th2 Differentiation Pathway 66
11.1 FOXP3 IFNG IL10 IL2RG IL4 IL5
45
Primary immunodeficiency 38
10.74 ADA AIRE DCLRE1C IL2RG IL7R RAG1
Sources

GO Terms for Omenn Syndrome

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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 positive regulation of T cell differentiation GO:0045582 9.61 ADA IL4 RAG1
26 regulation of isotype switching GO:0045191 9.6 IL10 IL4
27 type 2 immune response GO:0042092 9.59 IL10 IL4
28 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.58 IFNG TNF
29 regulation of T cell differentiation GO:0045580 9.58 ADA CARD11 RAG1
30 pre-B cell allelic exclusion GO:0002331 9.57 RAG1 RAG2
31 receptor biosynthetic process GO:0032800 9.56 IL10 TNF
32 V(D)J recombination GO:0033151 9.56 DCLRE1C LIG4 RAG1 RAG2
33 positive regulation of vitamin D biosynthetic process GO:0060557 9.48 IFNG TNF
34 B cell differentiation GO:0030183 9.43 CARD11 DCLRE1C IL10 IL4 RAG1 RAG2
35 immune response GO:0006955 9.32 AIRE IFNG IL10 IL1RN IL2RG IL4
36 chronic inflammatory response to antigenic stimulus GO:0002439 9.3 TNF
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

Sources for Omenn Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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