MCID: OMN001
MIFTS: 68

Omenn Syndrome

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

Aliases & Classifications for Omenn Syndrome

MalaCards integrated aliases for Omenn Syndrome:

Name: Omenn Syndrome 54 12 50 24 25 56 71 13 52 14 69
Histiocytic Medullary Reticulosis 25 29 69
Combined Immunodeficiency with Hypereosinophilia 12 56
Severe Combined Immunodeficiency with Hypereosinophilia 50
Reticuloendotheliosis Familial with Eosinophilia 50
Familial Reticuloendotheliosis with Eosinophilia 24
Familial Reticuloendotheliosis 25
Scid with Hypereosinophilia 24
Malignant Histiocytosis 69
Omenn's Syndrome 25
Os 71

Characteristics:

Orphanet epidemiological data:

56
omenn syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
omenn syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare immunological diseases


Summaries for Omenn Syndrome

NIH Rare Diseases : 50 omenn syndrome is an autosomal recessive form of severe combined immunodeficiency (scid) characterized by erythroderma (skin redness), desquamation (peeling skin), alopecia (hair loss), chronic diarrhea, failure to thrive, lymphadenopathy (enlarged lymph nodes), eosinophilia, hepatosplenomegaly, and elevated serum ige levels. patients are highly susceptible to infection and develop fungal, bacterial, and viral infections typical of scid. in this syndrome, the scid is associated with low igg, iga, and igm and the virtual absence of b cells. there is an elevated number of t cells, but their function is impaired. omenn syndrome has been found to be caused by mutations in the rag1 or rag2 genes. additional causative genes have been identified. early recognition of this condition is important for genetic counseling and early treatment. if left untreated, omenn syndrome is fatal. the prognosis may be improved  with early diagnosis and treatment with  compatible bone marrow or cord blood stem cell transplantation. last updated: 3/21/2012

MalaCards based summary : Omenn Syndrome, also known as histiocytic medullary reticulosis, is related to proximal symphalangism and glioblastoma multiforme, and has symptoms including failure to thrive, hepatomegaly and splenomegaly. An important gene associated with Omenn Syndrome is RAG2 (Recombination Activating 2), and among its related pathways/superpathways are Innate Immune System and TGF-Beta Pathway. The drugs alemtuzumab and Fludarabine have been mentioned in the context of this disorder. Affiliated tissues include t cells, skin and b cells, and related phenotypes are cellular and hematopoietic system

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

Genetics Home Reference : 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.

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

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

Description from OMIM: 603554

Related Diseases for Omenn Syndrome

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

(show top 50) (show all 274)
id Related Disease Score Top Affiliating Genes
1 proximal symphalangism 30.4 IL10 IL7R TNF
2 glioblastoma multiforme 30.1 IL10 IL5 TNF
3 atherosclerosis 29.7 IFNG IL10 IL1RN TNF
4 rheumatoid arthritis 28.5 FOXP3 IFNG IL10 IL1RN IL4 TNF
5 malignant histiocytosis 12.0
6 virus associated hemophagocytic syndrome 11.2
7 shox-related haploinsufficiency disorders 11.0 RAG1 RAG2
8 short syndrome 11.0
9 cd45 deficiency 10.9 RAG1 RAG2
10 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.9 RAG1 RAG2
11 jamaican vomiting sickness 10.8
12 adenosarcoma of the uterus 10.8
13 pure autonomic failure 10.8 IL10 TNF
14 opitz gbbb syndrome, type i 10.8
15 scarlet fever 10.8 DCLRE1C RAG1 RAG2
16 gastroschisis 10.8 IFNG IL5
17 intracranial aneurysms multiple congenital anomaly 10.8 IFNG IFNGR1
18 multiple congenital anomalies mental retardation, growth failure and cleft lip palate 10.7 IFNG IL10 IL5
19 combined oxidative phosphorylation deficiency 27 10.7 DCLRE1C LIG4 RAG1 RAG2
20 von economo's disease 10.7 FOXP3 IFNG
21 plantar wart 10.7 IFNG IL10 TNF
22 cyclosporiasis 10.7 IFNG IL10 TNF
23 hepadnavirus infection 10.6 IFNG IL10 TNF
24 cd3zeta deficiency 10.6 AIRE FOXP3 IFNG
25 psychologic dyspareunia 10.6 IFNG IL10 TNF
26 hemophagocytic lymphohistiocytosis 10.6 IFNG IL10 TNF
27 conduct disorder 10.6 IFNG IL10 TNF
28 bartonellosis 10.6 IFNG IL10 TNF
29 atrichia with papular lesions 10.6 AIRE IFNG TNF
30 extrahepatic bile duct adenocarcinoma 10.6 IFNG IL10 TNF
31 gerstmann syndrome 10.6 ADA IFNG IL10
32 myoclonic astatic epilepsy 10.6 IFNG IL4
33 ethmoid sinus adenocarcinoma 10.6 IFNGR1 IL10 TNF
34 sternal cleft 10.6 IFNG TNF
35 melioidosis 10.6 IFNG IL10 TNF
36 cornea cancer 10.6 IFNG IL10 TNF
37 dentinogenesis imperfecta 10.6 IFNG IL10 TNF
38 left bundle branch hemiblock 10.6 IFNG IL10 TNF
39 aortic arch interruption 10.6 IL5 TNF
40 heart sarcoma 10.6 IFNG IL10 TNF
41 dysphagia 10.6 IFNG IL10 RAG1 TNF
42 burn scar 10.5 IFNG IL10 TNF
43 chronic gonorrhea of cervix 10.5 AIRE IFNG IL10
44 autoimmune polyglandular syndrome type 3 10.5 IFNG TNF
45 keratomalacia 10.5 IFNG IL10 TNF
46 bacterial gastritis 10.5 IFNG IL10 TNF
47 membranoproliferative glomerulonephritis 10.5 IFNG IL1RN TNF
48 rift valley fever 10.5 IFNG IFNGR1 TNF
49 polyarteritis nodosa 10.5 ADA IFNG TNF
50 eye accommodation disease 10.5 IFNG IL10 IL4

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:

54

Growth- Other:
failure to thrive

Abdomen- Liver:
hepatomegaly

Hematology:
thrombocytopenia
anemia
eosinophilia

Immunology:
lymphadenopathy
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
absent 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- Gastroin testinal:
diarrhea

Abdomen- Spleen:
splenomegaly

Skin Nails & Hair- Hair:
alopecia

Respiratory- Lung:
pneumonia

Skin Nails & Hair- Skin:
pachydermia
generalized erythrodermia


Clinical features from OMIM:

603554

Human phenotypes related to Omenn Syndrome:

56 32 (show all 38)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 56 32 hallmark (90%) Very frequent (99-80%) HP:0001508
2 hepatomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002240
3 splenomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0001744
4 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
5 alopecia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001596
6 eosinophilia 56 32 frequent (33%) Frequent (79-30%) HP:0001880
7 desquamation of skin soon after birth 56 32 frequent (33%) Frequent (79-30%) HP:0007549
8 fever 56 32 frequent (33%) Frequent (79-30%) HP:0001945
9 dry skin 56 32 frequent (33%) Frequent (79-30%) HP:0000958
10 lymphadenopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0002716
11 nephrotic syndrome 56 32 occasional (7.5%) Occasional (29-5%) HP:0000100
12 edema 56 32 frequent (33%) Frequent (79-30%) HP:0000969
13 pneumonia 56 32 frequent (33%) Frequent (79-30%) HP:0002090
14 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
15 lymphoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002665
16 pruritus 56 32 frequent (33%) Frequent (79-30%) HP:0000989
17 chronic diarrhea 56 32 hallmark (90%) Very frequent (99-80%) HP:0002028
18 sepsis 56 32 occasional (7.5%) Occasional (29-5%) HP:0100806
19 severe combined immunodeficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0004430
20 thickened skin 56 32 frequent (33%) Frequent (79-30%) HP:0001072
21 thyroiditis 56 32 occasional (7.5%) Occasional (29-5%) HP:0100646
22 erythroderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0001019
23 short toe 56 32 occasional (7.5%) Occasional (29-5%) HP:0001831
24 autoimmunity 56 32 occasional (7.5%) Occasional (29-5%) HP:0002960
25 aplasia/hypoplasia of the eyebrow 56 32 frequent (33%) Frequent (79-30%) HP:0100840
26 abnormality of lymphocytes 56 32 hallmark (90%) Very frequent (99-80%) HP:0004332
27 diarrhea 32 HP:0002014
28 thrombocytopenia 32 HP:0001873
29 recurrent bacterial infections 32 HP:0002718
30 hypoproteinemia 32 HP:0003075
31 recurrent viral infections 32 HP:0004429
32 leukocytosis 56 Frequent (79-30%)
33 recurrent fungal infections 32 HP:0002841
34 abnormality of the metaphyses 56 Occasional (29-5%)
35 hypoplasia of the thymus 32 HP:0000778
36 b lymphocytopenia 32 HP:0010976
37 severe b lymphocytopenia 32 HP:0005365
38 abnormality of the metaphysis 32 occasional (7.5%) HP:0000944

UMLS symptoms related to Omenn Syndrome:


diarrhea

MGI Mouse Phenotypes related to Omenn Syndrome:

44 (show all 22)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.49 AIRE CHD7 DCLRE1C EFNA5 FOXP3 IFNG
2 hematopoietic system MP:0005397 10.49 CARD11 CHD7 DCLRE1C FOXP3 IFNG IFNGR1
3 immune system MP:0005387 10.46 IL5 IL7R LIG4 RAG1 RAG2 TNF
4 digestive/alimentary MP:0005381 10.45 ADA AIRE CHD7 EFNA5 FOXP3 IFNG
5 homeostasis/metabolism MP:0005376 10.45 IL1RN IL2RG IL4 IL5 LIG4 RAG1
6 endocrine/exocrine gland MP:0005379 10.43 IFNGR1 IL10 IL2RG IL4 IL7R LIG4
7 growth/size/body region MP:0005378 10.39 IL5 LIG4 RAG1 RAG2 TNF ADA
8 behavior/neurological MP:0005386 10.38 AIRE CHD7 EFNA5 FOXP3 IFNG IFNGR1
9 mortality/aging MP:0010768 10.33 IL1RN IL2RG IL4 LIG4 RAG1 RAG2
10 cardiovascular system MP:0005385 10.3 ADA CHD7 FOXP3 IFNG IFNGR1 IL10
11 liver/biliary system MP:0005370 10.26 ADA AIRE IFNGR1 IL10 IL4 IL5
12 craniofacial MP:0005382 10.24 CHD7 EFNA5 FOXP3 IFNG IL10 IL2RG
13 integument MP:0010771 10.19 CARD11 FOXP3 IFNG IFNGR1 IL10 IL1RN
14 embryo MP:0005380 10.17 CHD7 EFNA5 IFNG IFNGR1 IL10 IL2RG
15 neoplasm MP:0002006 10.17 AIRE IFNG IFNGR1 IL10 IL2RG IL5
16 nervous system MP:0003631 10.14 RAG2 TNF AIRE CHD7 EFNA5 IFNG
17 reproductive system MP:0005389 10.13 ADA AIRE CHD7 EFNA5 FOXP3 IFNG
18 normal MP:0002873 10.07 AIRE FOXP3 IFNG IL10 IL2RG IL4
19 respiratory system MP:0005388 9.97 FOXP3 IFNG IL10 IL2RG IL4 IL5
20 renal/urinary system MP:0005367 9.8 ADA FOXP3 IFNG IFNGR1 IL4 RAG1
21 skeleton MP:0005390 9.7 ADA CHD7 IFNG IFNGR1 IL10 IL1RN
22 vision/eye MP:0005391 9.23 TNF AIRE CHD7 FOXP3 IFNG IL10

Drugs & Therapeutics for Omenn Syndrome

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

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

Interventional clinical trials:


id 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 (1968-2010) Recruiting NCT01346150
5 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092 Alemtuzumab 0.3 mg;Cyclophosphamide;Busulfan;Fludarabine phosphate 40 mg;Melphalan;Alemtuzumab 0.2 mg;Busulfan;Fludarabine phosphate 30 mg;MESNA

Search NIH Clinical Center for Omenn Syndrome

Genetic Tests for Omenn Syndrome

Genetic tests related to Omenn Syndrome:

id Genetic test Affiliating Genes
1 Histiocytic Medullary Reticulosis 29
2 Omenn Syndrome 24 RAG2 RAG1 DCLRE1C

Anatomical Context for Omenn Syndrome

MalaCards organs/tissues related to Omenn Syndrome:

39
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 84)
id Title Authors Year
1
Omenn Syndrome and DNA recombination defects. ( 28747605 )
2017
2
Omenn Syndrome Presenting with Striking Erythroderma and Extreme Lymphocytosis in a Newborn. ( 27862277 )
2017
3
Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome. ( 28414192 )
2017
4
Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine). ( 26596586 )
2016
5
Recombinase Activating Gene 1 Deficiencies Without Omenn Syndrome May Also Present With Eosinophilia and Bone Marrow Fibrosis. ( 27081423 )
2016
6
Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency. ( 26289640 )
2015
7
Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome. ( 26476733 )
2015
8
Compound heterozygous mutation of rag1 leading to omenn syndrome. ( 25849362 )
2015
9
Cyclosporin treatment improves skin findings in omenn syndrome. ( 25727345 )
2015
10
Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias. ( 24759676 )
2014
11
RAG1 reversion mosaicism in a patient with omenn syndrome. ( 24817258 )
2014
12
Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: The Primary Immune Deficiency Treatment Consortium experience. ( 24290292 )
2013
13
First reported case of Omenn syndrome in a patient with reticular dysgenesis. ( 23014587 )
2013
14
Omenn syndrome: two case reports. ( 24476615 )
2013
15
Anti-CD3I/ mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications. ( 22723555 )
2012
16
From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family. ( 22882342 )
2012
17
A double cure: Omenn syndrome and I^ thalassaemia successfully treated with mismatched unrelated donor transplantation. ( 21602897 )
2012
18
Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. ( 25954555 )
2012
19
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. ( 22841008 )
2012
20
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome. ( 21624848 )
2011
21
Possible role of Artemis c.512C>G polymorphic variant in Omenn syndrome. ( 21030322 )
2011
22
Omenn syndrome does not live by V(D)J recombination alone. ( 22001740 )
2011
23
Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome. ( 21771083 )
2011
24
Prominent eosinophilia but less eosinophil activation in a patient with Omenn syndrome. ( 20958863 )
2010
25
Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. ( 20547828 )
2010
26
Igf-I stimulates in vivo thymopoiesis after stem cell transplantation in a child with Omenn syndrome. ( 19777327 )
2010
27
Defect of regulatory T cells in patients with Omenn syndrome. ( 20109747 )
2010
28
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
29
Decrease of skin infiltrating and circulating CCR10+ T cells coincides with clinical improvement after topical tacrolimus in Omenn syndrome. ( 19609312 )
2010
30
Novel presentation of Omenn syndrome in association with aniridia. ( 19178939 )
2009
31
Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency. ( 18822103 )
2009
32
Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells. ( 19767069 )
2009
33
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia. ( 19912631 )
2009
34
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
35
Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome. ( 19064334 )
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
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
38
Matched unrelated bone marrow transplant for Omenn syndrome. ( 18854956 )
2009
39
Omenn syndrome due to mutation of the RAG2 gene. ( 19470080 )
2009
40
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
41
Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome. ( 18559672 )
2008
42
Omenn syndrome with mutation in RAG1 gene. ( 19011808 )
2008
43
Omenn syndrome is associated with mutations in DNA ligase IV. ( 18845326 )
2008
44
A RAG1 mutation found in Omenn syndrome causes coding flank hypersensitivity: a novel mechanism for antigen receptor repertoire restriction. ( 18768869 )
2008
45
Omenn syndrome: inflammation in leaky severe combined immunodeficiency. ( 18992930 )
2008
46
Adenosine deaminase deficiency can present with features of Omenn syndrome. ( 18243287 )
2008
47
Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations. ( 17598841 )
2007
48
GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes. ( 17572155 )
2007
49
Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model. ( 17476359 )
2007
50
A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. ( 17476358 )
2007

Variations for Omenn Syndrome

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

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

ClinVar genetic disease variations for Omenn Syndrome:

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

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 45)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.04 CARD11 IFNG IFNGR1 IL10 IL1RN IL2RG
2
Show member pathways
13.53 IFNG IFNGR1 IL10 IL2RG IL4 IL5
3
Show member pathways
13.33 IFNG IFNGR1 IL10 IL1RN IL2RG IL4
4
Show member pathways
12.86 FOXP3 IFNG IL10 IL4 IL5 TNF
5
Show member pathways
12.78 IFNG IFNGR1 IL2RG IL4 TNF
6
Show member pathways
12.65 CARD11 IFNG IFNGR1 IL10 IL4 TNF
7
Show member pathways
12.57 FOXP3 IFNG IFNGR1 IL10 IL2RG IL4
8
Show member pathways
12.46 CARD11 IFNG IL10 IL4 IL5 TNF
9
Show member pathways
12.32 IFNG IL4 IL5 TNF
10
Show member pathways
12.27 IFNG IFNGR1 IL10 IL4 TNF
11 12.22 IFNG IFNGR1 IL10 TNF
12
Show member pathways
12.18 IFNG IFNGR1 IL4 TNF
13
Show member pathways
12.18 IFNG IL10 IL4 IL5 TNF
14
Show member pathways
12.15 IFNG IFNGR1 IL10 IL2RG IL4 IL5
15 12.1 CARD11 DCLRE1C FOXP3 IFNG IL10 IL1RN
16
Show member pathways
12.09 IL10 IL7R RAG1 RAG2
17 12 IFNG IL10 IL4 IL5 IL7R TNF
18 11.99 IL10 IL2RG IL4 TNF
19
Show member pathways
11.96 IFNG IFNGR1 IL10 TNF
20 11.91 IL4 IL5 IL7R TNF
21 11.9 IFNG IFNGR1 IL10 IL7R
22
Show member pathways
11.88 IFNG IL2RG IL4
23 11.79 IFNG IL10 IL7R TNF
24
Show member pathways
11.79 FOXP3 IFNG IL4 IL5 TNF
25 11.78 IFNG IL4 IL5
26 11.74 FOXP3 IL10 IL4 IL5 TNF
27 11.7 IL10 IL2RG IL4 IL5
28 11.7 IFNG IL10 IL4 IL5 IL7R TNF
29
Show member pathways
11.68 FOXP3 IL2RG IL4
30 11.65 IL4 IL5 TNF
31
Show member pathways
11.64 IFNG IL2RG TNF
32 11.58 IL10 IL1RN IL4 TNF
33
Show member pathways
11.53 IFNG IFNGR1 TNF
34 11.52 IFNG IL10 TNF
35
Show member pathways
11.4 FOXP3 IFNG IL10 IL2RG TNF
36 11.38 IFNG IL2RG IL4 IL5
37 11.36 IFNG IL10 TNF
38 11.35 IFNG IL4 IL5 TNF
39 11.3 FOXP3 IFNG IL10 IL2RG IL4 IL5
40 11.28 IL2RG IL7R RAG1 RAG2
41 11.24 IFNG IL10 IL4 IL5
42 11.2 IL10 IL4 IL5 TNF
43 11.13 IFNG IL10 IL4 IL5 TNF
44 10.94 IL2RG IL4 IL5
45 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:

id Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.1 ADA IFNG IL2RG IL4 IL7R TNF
2 nonhomologous end joining complex GO:0070419 8.96 DCLRE1C LIG4

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

(show all 46)
id Name GO ID Score Top Affiliating Genes
1 defense response to bacterium GO:0042742 9.98 IFNG IL10 RAG2 TNF
2 positive regulation of protein phosphorylation GO:0001934 9.93 EFNA5 IFNG IL4 TNF
3 negative regulation of inflammatory response GO:0050728 9.87 ADA FOXP3 IL10
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.87 EFNA5 IL4 IL5
5 response to virus GO:0009615 9.87 FOXP3 IFNG IFNGR1 TNF
6 response to glucocorticoid GO:0051384 9.85 IL10 IL1RN TNF
7 positive regulation of sequence-specific DNA binding transcription factor activity GO:0051091 9.85 IL10 IL4 IL5 TNF
8 positive regulation of T cell proliferation GO:0042102 9.84 CARD11 IFNG IL4
9 DNA recombination GO:0006310 9.84 DCLRE1C LIG4 RAG1 RAG2
10 humoral immune response GO:0006959 9.83 AIRE IFNG TNF
11 T cell activation GO:0042110 9.81 ADA CARD11 FOXP3
12 T cell differentiation GO:0030217 9.78 CHD7 IL7R RAG2
13 B cell proliferation GO:0042100 9.77 CARD11 IL10 IL7R
14 T cell differentiation in thymus GO:0033077 9.73 LIG4 RAG1 RAG2
15 negative regulation of interleukin-6 production GO:0032715 9.7 FOXP3 IL10 TNF
16 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.69 IFNG IFNGR1
17 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.69 IL10 TNF
18 positive regulation of podosome assembly GO:0071803 9.69 IL5 TNF
19 negative regulation of interleukin-17 production GO:0032700 9.68 FOXP3 IFNG
20 positive regulation of isotype switching to IgG isotypes GO:0048304 9.68 IFNG IL4
21 negative regulation of heterotypic cell-cell adhesion GO:0034115 9.68 IL10 IL1RN
22 positive regulation of T cell differentiation in thymus GO:0033089 9.67 ADA IL7R
23 defense response to protozoan GO:0042832 9.67 IFNG IL10 IL4
24 endothelial cell apoptotic process GO:0072577 9.66 IL10 TNF
25 negative regulation of thymocyte apoptotic process GO:0070244 9.65 ADA RAG1
26 negative regulation of cytokine secretion involved in immune response GO:0002740 9.65 IL10 TNF
27 positive regulation of T cell differentiation GO:0045582 9.65 ADA IL4 RAG1
28 type 2 immune response GO:0042092 9.64 IL10 IL4
29 negative regulation of T-helper 17 cell differentiation GO:2000320 9.63 FOXP3 IL4
30 regulation of isotype switching GO:0045191 9.62 IL10 IL4
31 negative regulation of chronic inflammatory response GO:0002677 9.62 FOXP3 IL4
32 positive regulation of mononuclear cell migration GO:0071677 9.61 IL4 TNF
33 negative regulation of growth of symbiont in host GO:0044130 9.61 IFNG IL10 TNF
34 receptor biosynthetic process GO:0032800 9.59 IL10 TNF
35 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.58 IFNG TNF
36 pre-B cell allelic exclusion GO:0002331 9.58 RAG1 RAG2
37 regulation of T cell differentiation GO:0045580 9.58 ADA CARD11 RAG1
38 positive regulation of B cell proliferation GO:0030890 9.56 ADA CARD11 IL4 IL5
39 positive regulation of chemokine biosynthetic process GO:0045080 9.54 IFNG IL4 TNF
40 positive regulation of vitamin D biosynthetic process GO:0060557 9.51 IFNG TNF
41 positive regulation of MHC class II biosynthetic process GO:0045348 9.5 IFNG IL10 IL4
42 V(D)J recombination GO:0033151 9.46 DCLRE1C LIG4 RAG1 RAG2
43 B cell differentiation GO:0030183 9.43 CARD11 DCLRE1C IL10 IL4 RAG1 RAG2
44 immune response GO:0006955 9.32 AIRE IFNG IL10 IL1RN IL2RG IL4
45 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.2 AIRE CHD7 FOXP3 IFNG IL10 IL4
46 positive regulation of transcription, DNA-templated GO:0045893 10 AIRE FOXP3 IFNG IL10 IL4 IL5

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

id 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

Sources for Omenn Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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