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MCID: OMN001
MIFTS: 67

Omenn Syndrome

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

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare immunological diseases


Sources

Summaries for Omenn Syndrome

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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 recombinase activating gene 1 deficiency, 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 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 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 associated with hypomorphic... 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 289)
# Related Disease Score Top Affiliating Genes
1 malignant histiocytosis 34.7 DCLRE1C RAG1 RAG2
2 recombinase activating gene 1 deficiency 31.3 RAG1 RAG2
3 hematopoietic stem cell transplantation 31.1 IFNG IL10 TNF
4 conjunctivitis 30.2 IFNG IL4 IL5
5 lymphopenia 29.8 FOXP3 IFNG IL2RG IL7R RAG1
6 arthritis 29.6 IFNG IL10 IL1RN TNF
7 helicobacter pylori infection 29.4 IFNG IFNGR1 IL10 IL1RN TNF
8 severe combined immunodeficiency, x-linked 29.3 ADA IL2RG IL4 IL7R
9 combined immunodeficiency, x-linked 28.8 ADA DCLRE1C IL2RG IL4 IL7R LIG4
10 severe combined immunodeficiency 28.8 ADA DCLRE1C IL2RG IL4 IL7R LIG4
11 rheumatoid arthritis 28.5 FOXP3 IFNG IL10 IL1RN IL4 TNF
12 virus associated hemophagocytic syndrome 11.3
13 osteogenic sarcoma 11.2
14 opitz gbbb syndrome, type i 11.1
15 short syndrome 11.1
16 punctate inner choroidopathy 10.9 IL10 TNF
17 baculum, congenital absence of 10.9
18 osteitis fibrosa 10.9
19 adenosarcoma of the uterus 10.9
20 jamaican vomiting sickness 10.9
21 eosinophilic fasciitis 10.9 IFNG IL5
22 severe combined immunodeficiency with sensitivity to ionizing radiation 10.8 DCLRE1C LIG4
23 interferon gamma, receptor 1, deficiency 10.8 IFNG IFNGR1
24 acute necrotizing encephalitis 10.8 FOXP3 IFNG
25 multicentric castleman disease 10.8 IFNG IL10 IL5
26 lig4 syndrome 10.7 DCLRE1C LIG4 RAG1 RAG2
27 clonorchiasis 10.7 IFNG IL10 TNF
28 hypersplenism 10.7 FOXP3 IFNG IL7R
29 intermediate uveitis 10.7 IFNG IL10 TNF
30 hemorrhagic fever 10.7 IFNG IL10 TNF
31 spotted fever 10.7 IFNG IL10 TNF
32 staphylococcal toxic shock syndrome 10.7 IFNG TNF
33 plasmodium vivax malaria 10.7 IFNG IL10 TNF
34 q fever 10.7 IFNG IL10 TNF
35 autoimmune disease of endocrine system 10.7 AIRE FOXP3 IFNG
36 angioimmunoblastic lymphadenopathy with dysproteinemia 10.7 IL5 TNF
37 chronic mucocutaneous candidiasis 10.7 AIRE IFNG IL10
38 mixed connective tissue disease 10.7 IFNG IL10 TNF
39 tropical spastic paraparesis 10.7 FOXP3 IFNG IL10
40 autoimmune myocarditis 10.7 IFNG TNF
41 reactive arthritis 10.7 IFNG IL10 TNF
42 melioidosis 10.7 IFNG IL10 TNF
43 microscopic polyangiitis 10.7 IL10 TNF
44 churg-strauss syndrome 10.7 IL10 IL5 TNF
45 dengue hemorrhagic fever 10.6 IFNG IL10 TNF
46 primary progressive multiple sclerosis 10.6 IL10 IL7R TNF
47 human immunodeficiency virus infectious disease 10.6 IFNG IL10 TNF
48 multifocal choroiditis 10.6 IL10 TNF
49 pericardial tuberculosis 10.6 ADA IFNG IL10
50 mycoplasmal pneumonia 10.6 IFNG IL4

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



Diseases related to Omenn Syndrome
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Symptoms & Phenotypes for Omenn Syndrome

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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

AbdomenSpleen:
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 IFNGR1 IL1RN IL10 IL7R IL4 LIG4
2 hematopoietic system MP:0005397 10.5 IL1RN IL10 IL2RG IFNGR1 IL4 IL7R
3 immune system MP:0005387 10.48 IL1RN IL10 IL2RG IFNGR1 IL4 IL7R
4 endocrine/exocrine gland MP:0005379 10.47 IL10 IL2RG IFNGR1 IL4 IL7R LIG4
5 homeostasis/metabolism MP:0005376 10.47 IFNGR1 IL1RN IL10 IL5 IL4 LIG4
6 digestive/alimentary MP:0005381 10.46 IL10 IL2RG IFNGR1 IL4 LIG4 IL5
7 growth/size/body region MP:0005378 10.4 IL1RN IL10 IL5 IL4 LIG4 RAG2
8 behavior/neurological MP:0005386 10.39 IL10 IFNGR1 IL5 RAG2 RAG1 TNF
9 mortality/aging MP:0010768 10.35 IFNGR1 IL1RN IL10 IL4 LIG4 IL2RG
10 cardiovascular system MP:0005385 10.3 IL10 IFNGR1 IL1RN RAG2 RAG1 TNF
11 liver/biliary system MP:0005370 10.27 IFNGR1 IL10 IL4 LIG4 IL5 RAG1
12 craniofacial MP:0005382 10.24 IL10 IL4 IL2RG TNF RAG2 EFNA5
13 embryo MP:0005380 10.23 IL10 IFNGR1 IL2RG IL5 TNF CHD7
14 integument MP:0010771 10.21 IFNGR1 IL1RN IL10 IL4 RAG2 RAG1
15 neoplasm MP:0002006 10.2 IFNGR1 IL10 IL5 IL7R LIG4 IL2RG
16 nervous system MP:0003631 10.17 IL10 IFNGR1 IL4 RAG2 RAG1 LIG4
17 reproductive system MP:0005389 10.13 IFNGR1 IL1RN IL10 IL2RG IL4 LIG4
18 normal MP:0002873 10.07 IL10 IL2RG IL7R IL4 RAG2 RAG1
19 respiratory system MP:0005388 9.97 IL10 IL2RG IL4 IL5 RAG1 TNF
20 no phenotypic analysis MP:0003012 9.95 IL10 IFNG IL2RG IL4 TNF FOXP3
21 renal/urinary system MP:0005367 9.87 IFNGR1 IL4 RAG1 EFNA5 IFNG ADA
22 skeleton MP:0005390 9.7 IFNGR1 IL1RN IL10 IL2RG IL4 RAG2
23 vision/eye MP:0005391 9.28 IL10 IL4 RAG1 TNF CHD7 EFNA5
Sources

Drugs & Therapeutics for Omenn Syndrome

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

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

Sources

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:

41
T Cells, Skin, B Cells, Bone, Bone Marrow, Lymph Node, Thymus
Sources

Publications for Omenn Syndrome

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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
Sources

Variations for Omenn Syndrome

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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 328)
# 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 Pathogenic rs121917894 GRCh37 Chromosome 11, 36615033: 36615033
6 RAG2 NM_000536.3(RAG2): c.686G> A (p.Arg229Gln) single nucleotide variant Pathogenic rs121917894 GRCh38 Chromosome 11, 36593483: 36593483
7 RAG2 NM_000536.3(RAG2): c.123C> G (p.Cys41Trp) single nucleotide variant Pathogenic rs121917895 GRCh37 Chromosome 11, 36615596: 36615596
8 RAG2 NM_000536.3(RAG2): c.123C> G (p.Cys41Trp) single nucleotide variant Pathogenic rs121917895 GRCh38 Chromosome 11, 36594046: 36594046
9 RAG2 NM_000536.3(RAG2): c.854T> G (p.Met285Arg) single nucleotide variant Pathogenic rs121917896 GRCh37 Chromosome 11, 36614865: 36614865
10 RAG2 NM_000536.3(RAG2): c.854T> G (p.Met285Arg) single nucleotide variant Pathogenic rs121917896 GRCh38 Chromosome 11, 36593315: 36593315
11 RAG2 NM_000536.3(RAG2): c.283G> A (p.Gly95Arg) single nucleotide variant Pathogenic rs36001797 GRCh37 Chromosome 11, 36615436: 36615436
12 RAG2 NM_000536.3(RAG2): c.283G> A (p.Gly95Arg) single nucleotide variant Pathogenic rs36001797 GRCh38 Chromosome 11, 36593886: 36593886
13 RAG2 NM_000536.3(RAG2): c.115A> G (p.Arg39Gly) single nucleotide variant Pathogenic rs121917897 GRCh37 Chromosome 11, 36615604: 36615604
14 RAG2 NM_000536.3(RAG2): c.115A> G (p.Arg39Gly) single nucleotide variant Pathogenic rs121917897 GRCh38 Chromosome 11, 36594054: 36594054
15 RAG1 NM_000448.2(RAG1): c.1682G> A (p.Arg561His) single nucleotide variant Pathogenic rs104894284 GRCh37 Chromosome 11, 36596536: 36596536
16 RAG1 NM_000448.2(RAG1): c.1682G> A (p.Arg561His) single nucleotide variant Pathogenic rs104894284 GRCh38 Chromosome 11, 36574986: 36574986
17 RAG1 NM_000448.2(RAG1): c.1186C> T (p.Arg396Cys) single nucleotide variant Pathogenic rs104894289 GRCh37 Chromosome 11, 36596040: 36596040
18 RAG1 NM_000448.2(RAG1): c.1186C> T (p.Arg396Cys) single nucleotide variant Pathogenic rs104894289 GRCh38 Chromosome 11, 36574490: 36574490
19 RAG1 NM_000448.2(RAG1): c.2735A> G (p.Tyr912Cys) single nucleotide variant Pathogenic rs104894290 GRCh37 Chromosome 11, 36597589: 36597589
20 RAG1 NM_000448.2(RAG1): c.2735A> G (p.Tyr912Cys) single nucleotide variant Pathogenic rs104894290 GRCh38 Chromosome 11, 36576039: 36576039
21 RAG1 NM_000448.2(RAG1): c.1187G> A (p.Arg396His) single nucleotide variant Pathogenic rs104894291 GRCh37 Chromosome 11, 36596041: 36596041
22 RAG1 NM_000448.2(RAG1): c.1187G> A (p.Arg396His) single nucleotide variant Pathogenic rs104894291 GRCh38 Chromosome 11, 36574491: 36574491
23 RAG1 NM_000448.2(RAG1): c.1286A> G (p.Asp429Gly) single nucleotide variant Pathogenic rs104894292 GRCh37 Chromosome 11, 36596140: 36596140
24 RAG1 NM_000448.2(RAG1): c.1286A> G (p.Asp429Gly) single nucleotide variant Pathogenic rs104894292 GRCh38 Chromosome 11, 36574590: 36574590
25 RAG1 NM_000448.2(RAG1): c.1681C> T (p.Arg561Cys) single nucleotide variant Pathogenic rs104894285 GRCh37 Chromosome 11, 36596535: 36596535
26 RAG1 NM_000448.2(RAG1): c.1681C> T (p.Arg561Cys) single nucleotide variant Pathogenic rs104894285 GRCh38 Chromosome 11, 36574985: 36574985
27 RAG1 NM_000448.2(RAG1): c.2210G> A (p.Arg737His) single nucleotide variant Pathogenic rs104894286 GRCh37 Chromosome 11, 36597064: 36597064
28 RAG1 NM_000448.2(RAG1): c.2210G> A (p.Arg737His) single nucleotide variant Pathogenic rs104894286 GRCh38 Chromosome 11, 36575514: 36575514
29 RAG1 RAG1, 13-BP DEL, NT1723 deletion Pathogenic
30 RAG1 RAG1, 2-BP DEL, 368AA deletion Pathogenic
31 RAG1 RAG1, 1-BP DEL, 887A deletion Pathogenic
32 RAG1 RAG1, 1-BP DEL, 631T deletion Pathogenic
33 RAG1 NM_000448.2(RAG1): c.983G> A (p.Cys328Tyr) single nucleotide variant Pathogenic rs121918571 GRCh37 Chromosome 11, 36595837: 36595837
34 RAG1 NM_000448.2(RAG1): c.983G> A (p.Cys328Tyr) single nucleotide variant Pathogenic rs121918571 GRCh38 Chromosome 11, 36574287: 36574287
35 RAG1 NM_000448.2(RAG1): c.2904C> A (p.Asn968Lys) single nucleotide variant Likely pathogenic rs193922463 GRCh37 Chromosome 11, 36597758: 36597758
36 RAG1 NM_000448.2(RAG1): c.2904C> A (p.Asn968Lys) single nucleotide variant Likely pathogenic rs193922463 GRCh38 Chromosome 11, 36576208: 36576208
37 RAG2 NM_000536.3(RAG2): c.1247G> T (p.Trp416Leu) single nucleotide variant Likely pathogenic rs193922572 GRCh37 Chromosome 11, 36614472: 36614472
38 RAG2 NM_000536.3(RAG2): c.1247G> T (p.Trp416Leu) single nucleotide variant Likely pathogenic rs193922572 GRCh38 Chromosome 11, 36592922: 36592922
39 DCLRE1C NM_001033855.2(DCLRE1C): c.2001A> G (p.Leu667=) single nucleotide variant Conflicting interpretations of pathogenicity rs61749163 GRCh37 Chromosome 10, 14950485: 14950485
40 DCLRE1C NM_001033855.2(DCLRE1C): c.2001A> G (p.Leu667=) single nucleotide variant Conflicting interpretations of pathogenicity rs61749163 GRCh38 Chromosome 10, 14908486: 14908486
41 DCLRE1C NM_001033855.2(DCLRE1C): c.780+10C> T single nucleotide variant Benign rs35927251 GRCh37 Chromosome 10, 14974843: 14974843
42 DCLRE1C NM_001033855.2(DCLRE1C): c.780+10C> T single nucleotide variant Benign rs35927251 GRCh38 Chromosome 10, 14932844: 14932844
43 DCLRE1C NM_001033855.2(DCLRE1C): c.728A> G (p.His243Arg) single nucleotide variant Benign/Likely benign rs12768894 GRCh37 Chromosome 10, 14974905: 14974905
44 DCLRE1C NM_001033855.2(DCLRE1C): c.728A> G (p.His243Arg) single nucleotide variant Benign/Likely benign rs12768894 GRCh38 Chromosome 10, 14932906: 14932906
45 RAG1 NM_000448.2(RAG1): c.2459A> G (p.Lys820Arg) single nucleotide variant Benign rs2227973 GRCh38 Chromosome 11, 36575763: 36575763
46 RAG1 NM_000448.2(RAG1): c.2459A> G (p.Lys820Arg) single nucleotide variant Benign rs2227973 GRCh37 Chromosome 11, 36597313: 36597313
47 RAG1 NM_000448.2(RAG1): c.2880A> G (p.Ala960=) single nucleotide variant Benign/Likely benign rs1980131 GRCh38 Chromosome 11, 36576184: 36576184
48 RAG1 NM_000448.2(RAG1): c.2880A> G (p.Ala960=) single nucleotide variant Benign/Likely benign rs1980131 GRCh37 Chromosome 11, 36597734: 36597734
49 RAG2 NM_000536.3(RAG2): c.878A> G (p.Glu293Gly) single nucleotide variant Benign/Likely benign rs16929093 GRCh38 Chromosome 11, 36593291: 36593291
50 RAG2 NM_000536.3(RAG2): c.878A> G (p.Glu293Gly) single nucleotide variant Benign/Likely benign rs16929093 GRCh37 Chromosome 11, 36614841: 36614841
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 43)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 14.01 CARD11 IFNG IFNGR1 IL10 IL1RN IL2RG
2
PEDF Induced Signaling 64
Show member pathways
 13.67 IFNG IFNGR1 IL10 IL1RN IL2RG IL4
3
TGF-Beta Pathway 64
Show member pathways
 13.49 IFNG IFNGR1 IL10 IL2RG IL4 IL5
4
Cytokine Signaling in Immune system 66
Show member pathways
 13.31 IFNG IFNGR1 IL10 IL1RN IL2RG IL4
5
Allograft rejection 1 37
Show member pathways
 12.9 CARD11 FOXP3 IFNG IFNGR1 IL10 IL4
6
Pathways in cancer 37
12.82 IFNG IFNGR1 IL2RG IL4 IL5 IL7R
7
IL-2 Pathway 64
Show member pathways
 12.77 IFNG IFNGR1 IL2RG IL4 TNF
8
Influenza A 37
Show member pathways
 12.77 IFNG IFNGR1 IL2RG IL4 TNF
9
Regulation of IFNA signaling 66
Show member pathways
 12.6 IFNG IFNGR1 IL10 IL2RG IL4 IL5
10
T cell receptor signaling pathway 37
Show member pathways
 12.45 CARD11 IFNG IL10 IL4 IL5 TNF
11
NF-kappaB Signaling 4
12.32 CARD11 DCLRE1C FOXP3 IFNG IL10 IL1RN
12
IL-17 Family Signaling Pathways 65
Show member pathways
 12.31 IFNG IL4 IL5 TNF
13
Th17 cell differentiation 37
Show member pathways
 12.28 FOXP3 IFNG IFNGR1 IL10 IL2RG IL4
14
Th1 Differentiation Pathway 65
Show member pathways
 12.27 IFNG IFNGR1 IL10 IL2RG TNF
15
Toxoplasmosis 37
Show member pathways
 12.26 IFNG IFNGR1 IL10 IL4 TNF
16
Tuberculosis 37
12.22 IFNG IFNGR1 IL10 TNF
17
Bacterial infections in CF airways 22
Show member pathways
 12.17 IFNG IFNGR1 IL4 TNF
18
Immune response IFN gamma signaling pathway 22
Show member pathways
 12.08 IFNG IFNGR1 IL10 IL2RG IL4 IL5
19
FoxO signaling pathway 37
Show member pathways
 12.07 IL10 IL7R RAG1 RAG2
20
Interleukin-4 and 13 signaling 66
11.98 IL10 IL2RG IL4 TNF
21
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.97 IFNG IL10 IL4 IL5 IL7R TNF
22
Hematopoietic cell lineage 37
11.9 IL4 IL5 IL7R TNF
23
Jak-Stat Signaling Pathway 67
11.88 IFNG IFNGR1 IL10 IL7R
24
Amoebiasis 37
11.85 IFNG IL10 TNF
25
Dendritic Cells Developmental Lineage Pathway 65
11.78 IFNG IL10 IL7R TNF
26
Glucocorticoid receptor regulatory network 1
11.77 IFNG IL4 IL5
27
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.76 FOXP3 IFNG IL4 IL5 TNF
28
Innate Lymphoid Cell Differentiation Pathways 65
11.75 IFNG IL10 IL4 IL5 IL7R TNF
29
IL4-mediated signaling events 1
11.68 IL10 IL2RG IL4 IL5
30
IL2 signaling events mediated by PI3K 1
Show member pathways
 11.67 FOXP3 IL2RG IL4
31
Lung fibrosis 1
11.64 IL4 IL5 TNF
32
Downstream signaling in naive CD8+ T cells 1
Show member pathways
 11.63 IFNG IL2RG TNF
33
Interleukin-10 signaling 66
11.57 IL10 IL1RN IL4 TNF
34
Cellular Transformation by HTLV1 64
Show member pathways
 11.53 IFNG IFNGR1 TNF
35
Malaria 37
11.52 IFNG IL10 TNF
36
Inflammatory Response Pathway 1
11.37 IFNG IL2RG IL4 IL5
37
African trypanosomiasis 37
11.35 IFNG IL10 TNF
38
Development and heterogeneity of the ILC family 1
11.34 IFNG IL4 IL5 TNF
39
Interleukin-7 signaling 66
11.26 IL2RG IL7R RAG1 RAG2
40
OX40 Pathway 64
11.21 IFNG IL10 IL4 IL5
41
Cytokines and Inflammatory Response 1
11.2 IFNG IL10 IL4 IL5 TNF
42
Th2 Differentiation Pathway 65
11.1 FOXP3 IFNG IL10 IL2RG IL4 IL5
43
Primary immunodeficiency 37
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 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 36)
# 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 virus GO:0009615 9.83 FOXP3 IFNG IFNGR1 TNF
3 response to glucocorticoid GO:0051384 9.81 IL10 IL1RN TNF
4 DNA recombination GO:0006310 9.81 DCLRE1C LIG4 RAG1 RAG2
5 humoral immune response GO:0006959 9.79 AIRE IFNG TNF
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 growth of symbiont in host GO:0044130 9.67 IL10 TNF
11 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.67 IFNG IFNGR1
12 negative regulation of interleukin-6 production GO:0032715 9.67 FOXP3 IL10 TNF
13 T cell activation GO:0042110 9.67 ADA CARD11 FOXP3 IL4
14 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.66 IL10 TNF
15 positive regulation of podosome assembly GO:0071803 9.66 IL5 TNF
16 negative regulation of interleukin-17 production GO:0032700 9.65 FOXP3 IFNG
17 negative regulation of heterotypic cell-cell adhesion GO:0034115 9.65 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 9.64 IL7R RAG1
20 endothelial cell apoptotic process GO:0072577 9.63 IL10 TNF
21 negative regulation of thymocyte apoptotic process GO:0070244 9.63 ADA RAG1
22 positive regulation of MHC class II biosynthetic process GO:0045348 9.62 IL10 IL4
23 positive regulation of B cell proliferation GO:0030890 9.62 ADA CARD11 IL4 IL5
24 negative regulation of cytokine secretion involved in immune response GO:0002740 9.61 IL10 TNF
25 type 2 immune response GO:0042092 9.61 IL10 IL4
26 positive regulation of T cell differentiation GO:0045582 9.61 ADA IL4 RAG1
27 regulation of isotype switching GO:0045191 9.59 IL10 IL4
28 receptor biosynthetic process GO:0032800 9.58 IL10 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 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.56 IFNG 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 positive regulation of transcription, DNA-templated GO:0045893 10.08 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 protein binding GO:0005515 9.93 ADA AIRE CARD11 CHD7 DCLRE1C EFNA5
2 cytokine receptor activity GO:0004896 9.43 IFNGR1 IL2RG IL7R
3 interleukin-7 receptor activity GO:0004917 9.16 IL2RG IL7R
4 cytokine activity GO:0005125 9.1 IFNG IL10 IL1RN IL4 IL5 TNF
Sources

Sources for Omenn Syndrome

About this section
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
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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