MCID: SZR001
MIFTS: 67

Sezary's Disease

Categories: Blood diseases, Cancer diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Sezary's Disease

MalaCards integrated aliases for Sezary's Disease:

Name: Sezary's Disease 12 15
Sezary Syndrome 12 76 53 25 55 6 44 73
Sézary Syndrome 53 25 59
Sezary's Lymphoma 53 25
Sezary Erythroderma 25
Sézary Lymphoma 59
Sezary Disease 12

Characteristics:

Orphanet epidemiological data:

59
sézary syndrome
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: <1/1000000 (United States),<1/1000000 (Norway); Age of onset: Adult; Age of death: adult;

Classifications:



Summaries for Sezary's Disease

NIH Rare Diseases : 53 Sezary syndrome is an aggressive form of cutaneous T-cell lymphoma which is a group of disorders that occur when T-cells (a type of white blood cell) become cancerous and affect the skin. It is characterized by a widespread red rash that may cover most of the body, the presence of cancerous T cells (called Sezary cells) in the blood, and abnormally enlarged lymph nodes. Other signs and symptoms may include intense itchiness, scaling and peeling of the skin; fever; weight loss; hair loss; outward turning of the eyelids (ectropion); palmoplantar keratoderma; malformation of the nails; and hepatosplenomegaly. The exact cause of Sezary syndrome is currently unknown. Treatment varies based on the signs and symptoms present in each person and the severity of the condition.

MalaCards based summary : Sezary's Disease, also known as sezary syndrome, is related to mycosis fungoides and cutaneous t cell lymphoma, and has symptoms including pruritus An important gene associated with Sezary's Disease is BCL10 (BCL10, Immune Signaling Adaptor), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. Affiliated tissues include t cells, skin and bone, and related phenotypes are tremor and splenomegaly

Genetics Home Reference : 25 Sézary syndrome is an aggressive form of a type of blood cancer called cutaneous T-cell lymphoma. Cutaneous T-cell lymphomas occur when certain white blood cells, called T cells, become cancerous; these cancers characteristically affect the skin, causing different types of skin lesions. In Sézary syndrome, the cancerous T cells, called Sézary cells, are present in the blood, skin, and lymph nodes. A characteristic of Sézary cells is an abnormally shaped nucleus, described as cerebriform.

Wikipedia : 76 Sézary disease is a type of cutaneous lymphoma that was first described by Albert Sézary. The affected... more...

Related Diseases for Sezary's Disease

Diseases related to Sezary's Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 183)
# Related Disease Score Top Affiliating Genes
1 mycosis fungoides 32.8 CD28 CTLA4 DPP4 IL2 IL2RA IL5
2 cutaneous t cell lymphoma 30.7 IFNG IL2 IL2RA IL4 IL7
3 hematopoietic stem cell transplantation 30.6 CTLA4 IFNG IL2
4 dermatitis, atopic 30.4 IFNG IL2 IL2RA IL4 IL5 TLR9
5 cutaneous leishmaniasis 30.3 IFNG IL4 IL5 TLR9
6 leishmaniasis 30.3 IFNG IL2 IL4 IL5 TLR9
7 uveitis 30.2 CTLA4 IFNG IL2RA IL4
8 leukemia, chronic lymphocytic 30.2 BCL10 IL2 IL2RA IL4 IL7 TLR9
9 dermatitis 30.2 IFNG IL4 IL5 TLR9
10 acquired immunodeficiency syndrome 30.2 IFNG IL2 IL2RA
11 lymphoma, non-hodgkin, familial 30.1 BCL10 IL2 IL2RA TLR9
12 psoriasis 30.0 IFNG IL2 IL4 TLR9 TNFRSF1B
13 lymphoma 10.4
14 virus associated hemophagocytic syndrome 10.3 IL2 IL4
15 eosinophilic fasciitis 10.3 IFNG IL5
16 chronic active epstein-barr virus infection 10.3 CTLA4 IFNG IL2
17 cephalosporin allergy 10.3 IFNG IL5
18 variola major 10.3 IFNG IL2
19 rheumatoid factor-negative juvenile idiopathic arthritis 10.3 IL2RA STAT4
20 hyperlucent lung 10.3 IFNG IL2RA IL4
21 gaucher disease, type ii 10.3 IL2 IL4 IL5
22 angiostrongyliasis 10.3 IL2 IL4 IL5
23 autoimmune disease of endocrine system 10.3 CTLA4 IFNG IL2
24 severe combined immunodeficiency, x-linked 10.3 IL2 IL4 IL7
25 b-cell growth factor 10.3 IFNG IL4 IL7
26 autoimmune myocarditis 10.3 IFNG IL4
27 intermediate uveitis 10.3 IFNG IL2 IL2RA
28 autoimmune gastritis 10.3 IL2 IL4 KIR3DL2
29 posterior uveitis 10.3 IFNG IL2 IL2RA
30 nickel allergic contact dermatitis 10.3 IFNG IL4 IL5
31 allergic contact dermatitis 10.3 IFNG IL4 IL5
32 contact dermatitis 10.3 IFNG IL4 IL5
33 pure red-cell aplasia 10.3 IL2 IL2RA TRB
34 scleritis 10.3 IFNG IL4 IL5
35 wells syndrome 10.3 IL2 IL2RA IL5
36 large granular lymphocyte leukemia 10.3 IFNG IL2RA
37 onchocerciasis 10.3 IL2 IL4 IL5
38 autoimmune uveitis 10.3 IFNG IL2 IL4
39 filarial elephantiasis 10.3 IL4 IL5 TLR9
40 tropical spastic paraparesis 10.3 IFNG IL2 IL2RA
41 paranasal sinus disease 10.3 IFNG IL4 IL5
42 leprosy 3 10.3 IFNG IL2 IL4
43 mumps 10.3 IFNG IL2 IL2RA
44 autoimmune vasculitis 10.3 IL2 IL4
45 exanthem 10.3 CTLA4 IL2 TLR9 TNFRSF1B
46 fixed drug eruption 10.3 IFNG IL2
47 allergic conjunctivitis 10.3 IFNG IL4 IL5
48 pulmonary sarcoidosis 10.3 IFNG IL2 IL2RA
49 graft-versus-host disease 10.3 CD28 IFNG IL2
50 lichen disease 10.3 IFNG IL4 TLR9

Graphical network of the top 20 diseases related to Sezary's Disease:



Diseases related to Sezary's Disease

Symptoms & Phenotypes for Sezary's Disease

Human phenotypes related to Sezary's Disease:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
2 splenomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0001744
3 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
4 abnormal facial shape 59 32 occasional (7.5%) Occasional (29-5%) HP:0001999
5 immunodeficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002721
6 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
7 palmoplantar keratoderma 59 32 frequent (33%) Frequent (79-30%) HP:0000982
8 nail dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008404
9 edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000969
10 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
11 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
12 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
13 abnormality of the pleura 59 32 occasional (7.5%) Occasional (29-5%) HP:0002103
14 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
15 irregular hyperpigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007400
16 neoplasm of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008069
17 lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002716
18 ectropion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000656
19 erythroderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001019
20 gangrene 59 32 occasional (7.5%) Occasional (29-5%) HP:0100758
21 lichenification 59 32 hallmark (90%) Very frequent (99-80%) HP:0100725
22 cutaneous t-cell lymphoma 59 32 hallmark (90%) Very frequent (99-80%) HP:0012192
23 abnormal immunoglobulin level 59 32 occasional (7.5%) Occasional (29-5%) HP:0010701
24 abnormality of the face 59 Frequent (79-30%)
25 lymphoma 59 Very frequent (99-80%)
26 abnormality of lymphocytes 59 Very frequent (99-80%)
27 abnormal lymphocyte morphology 32 hallmark (90%) HP:0004332

UMLS symptoms related to Sezary's Disease:


pruritus

MGI Mouse Phenotypes related to Sezary's Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.1 BCL10 CD28 CTLA4 IFNG IFNGR2 IL2
2 endocrine/exocrine gland MP:0005379 10.06 BCL10 CD28 CTLA4 DPP4 IFNG IL2
3 digestive/alimentary MP:0005381 10.02 CD28 CTLA4 IFNG IL2 IL2RA IL4
4 homeostasis/metabolism MP:0005376 9.97 CD28 CTLA4 DPP4 IFNG IFNGR2 IL2
5 immune system MP:0005387 9.8 BCL10 CD28 CTLA4 IFNG IFNGR2 IL2
6 respiratory system MP:0005388 9.17 CTLA4 IFNG IL2 IL2RA IL4 IL5

Drugs & Therapeutics for Sezary's Disease

Genetic Tests for Sezary's Disease

Anatomical Context for Sezary's Disease

MalaCards organs/tissues related to Sezary's Disease:

41
T Cells, Skin, Bone, Lymph Node, Bone Marrow, B Cells, Nk Cells

Publications for Sezary's Disease

Articles related to Sezary's Disease:

(show top 50) (show all 635)
# Title Authors Year
1
Mycosis Fungoides and Sézary Syndrome: An Update. ( 30497668 )
2019
2
Global patterns of care in advanced stage mycosis fungoides/Sezary syndrome: a multicenter retrospective follow-up study from the Cutaneous Lymphoma International Consortium. ( 29947731 )
2018
3
Local radiation for cutaneous T-cell lymphoma other than mycosis fungoides and Sézary syndrome. ( 30180750 )
2018
4
Allogeneic hematopoietic stem cell transplantation in advanced stage mycosis fungoides and Sézary syndrome: a concise review. ( 30525754 )
2018
5
Treatment of mycosis fungoides and Sezary syndrome with romidepsin: a series of 32 cases of the French Study Group for Cutaneous Lymphoma. ( 30298903 )
2018
6
Potential Association of Anti-CCR4 Antibody Mogamulizumab and Graft-vs-Host Disease in Patients With Mycosis Fungoides and Sézary Syndrome. ( 29800117 )
2018
7
Developments in the understanding of blood involvement and stage in mycosis fungoides/Sezary syndrome. ( 30017383 )
2018
8
Infectious events and associated risk factors in mycosis fungoides/Sézary syndrome: a retrospective cohort study. ( 30098016 )
2018
9
Survival, disease progression and prognostic factors in elderly patients with mycosis fungoides and Sézary syndrome: a retrospective analysis of 174 patients. ( 30176169 )
2018
10
Integrating novel systemic therapies for the treatment of mycosis fungoides and Sézary syndrome. ( 30213403 )
2018
11
Infections in mycosis fungoides and Sézary syndrome are a frequent cause of morbidity and contribute to mortality. What can be done? ( 30508233 )
2018
12
Serum vascular endothelial growth factor A levels reflect itch severity in mycosis fungoides and Sézary syndrome. ( 28925057 )
2018
13
The "Duvic regimen" for erythrodermic flares secondary to Staphylococcus aureus in mycosis fungoides and Sézary syndrome. ( 29152728 )
2018
14
Therapeutic reduction of cell-mediated immunosuppression in mycosis fungoides and Sézary syndrome. ( 29204699 )
2018
15
Therapeutic and prognostic significance of PARP-1 in advanced mycosis fungoides and Sezary syndrome. ( 29205518 )
2018
16
Blood classification and blood response criteria in mycosis fungoides and Sézary syndrome using flow cytometry: recommendations from the EORTC cutaneous lymphoma task force. ( 29477101 )
2018
17
The Use of Central Pathology Review With Digital Slide Scanning in Advanced-stage Mycosis Fungoides and Sézary Syndrome: A Multi-institutional and International Pathology Study. ( 29543675 )
2018
18
Systemic Treatment Options for Advanced-Stage Mycosis Fungoides and Sézary Syndrome. ( 29572582 )
2018
19
Serum Soluble CD48 Levels as a Prognostic Marker in Mycosis Fungoides and Sézary Syndrome. ( 29605670 )
2018
20
Atypical Varicella-Zoster Kaposi Varicelliform Eruption in Sézary Syndrome. ( 30211729 )
2018
21
Plaques and tumors in a patient with refractory Sézary syndrome treated with mogamulizumab. ( 30277017 )
2018
22
Long-term complete remission of early hematological relapse after discontinuation of immunosuppressants following allogeneic transplantation for Sezary syndrome. ( 30283619 )
2018
23
Association of autoimmunity and long-term complete remission in patients with Sézary syndrome treated with mogamulizumab. ( 30328116 )
2018
24
Targeted killing of TNFR2-expressing tumor cells and Tregs by TNFR2 antagonistic antibodies in advanced Sézary syndrome. ( 30356161 )
2018
25
Sézary syndrome without erythroderma: A case report and review of published work. ( 30379353 )
2018
26
Loss of the candidate tumor suppressor ZEB1 (TCF8, ZFHX1A) in Sézary syndrome. ( 30518749 )
2018
27
Sezary syndrome, recent biomarkers and new drugs. ( 30525758 )
2018
28
Sézary syndrome with T/NK phenotype: A variant phenotype or a distinct clinical entity? ( 27145066 )
2018
29
Different genetic alteration of A20 in a Sézary syndrome case with Vα2-Jα22 T cell clone. ( 28296250 )
2018
30
Sézary syndrome managed with histone deacetylase inhibitor followed by anti-CCR4 monoclonal antibody. ( 29327377 )
2018
31
SNF5 deficiency induces apoptosis resistance by repressing SATB1 expression in Sézary syndrome. ( 29334836 )
2018
32
Chronic activation profile of circulating CD8+ T cells in Sézary syndrome. ( 29423061 )
2018
33
Is HERV-K and HERV-W expression regulated by mir-155 in Sézary syndrome? ( 29582620 )
2018
34
Sézary syndrome-clinical and histopathologic features, differential diagnosis, and treatment. ( 29719016 )
2018
35
Paraneoplastic arthritis in a patient with Sézary syndrome. ( 29726614 )
2018
36
Sezary syndrome manifesting as posttransplant lymphoproliferative disorder. ( 29761072 )
2018
37
Onychodystrophy in Sézary syndrome. ( 29920318 )
2018
38
Sézary Syndrome Presenting With Renal Involvement. ( 29941220 )
2018
39
Sézary syndrome in an anti-human T-cell lymphotropic virus type 1 seropositive carrier. ( 29952024 )
2018
40
Single-cell heterogeneity in Sézary syndrome. ( 30139925 )
2018
41
Aprepitant for the Treatment of Pruritus in Sézary Syndrome: A Randomized Crossover Clinical Trial. ( 30140912 )
2018
42
Remarkable Advances in the Management of Mycosis Fungoides and the Sezary Syndrome. ( 28423383 )
2017
43
Global patterns of care in advanced stage mycosis fungoides/Sezary syndrome: a multicenter retrospective follow-up study from the Cutaneous Lymphoma International Consortium. ( 28961843 )
2017
44
Allogeneic hematopoietic stem cell transplantation for refractory mycosis fungoides (MF) and Sezary syndrome (SS). ( 28466385 )
2017
45
CD4-Positive T-Cell Large Granular Lymphocytosis Mimicking Sezary Syndrome in a Patient With Mycosis Fungoides. ( 28441377 )
2017
46
Transformation of Mycosis fungoides/Sezary syndrome: clinical characteristics and prognosis. ( 28533196 )
2017
47
Characterization of the peripheral neuropathy associated with brentuximab vedotin treatment of Mycosis Fungoides and Sézary Syndrome. ( 28271282 )
2017
48
Mycosis Fungoides and Sezary Syndrome. ( 28340880 )
2017
49
European Organisation for Research and Treatment of Cancer consensus recommendations for the treatment of mycosis fungoides/Sézary syndrome - Update 2017. ( 28365528 )
2017
50
Multidisciplinary Management of Mycosis Fungoides/Sézary Syndrome. ( 28540671 )
2017

Variations for Sezary's Disease

ClinVar genetic disease variations for Sezary's Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BCL10 NM_003921.4(BCL10): c.428delT (p.Phe143Serfs) deletion Pathogenic rs587776638 GRCh37 Chromosome 1, 85733584: 85733584
2 BCL10 NM_003921.4(BCL10): c.428delT (p.Phe143Serfs) deletion Pathogenic rs587776638 GRCh38 Chromosome 1, 85267901: 85267901

Cosmic variations for Sezary's Disease:

9 (show top 50) (show all 92)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM5574244 ZEB1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.2668A>C p.T890P 10:31523999-31523999 11
2 COSM5574236 ZEB1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.517C>T p.P173S 10:31510708-31510708 11
3 COSM5574238 ZEB1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.752A>G p.Y251C 10:31514670-31514670 11
4 COSM44854 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.655C>A p.P219T 17:7674876-7674876 11
5 COSM44036 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.296C>T p.S99F 17:7676073-7676073 11
6 COSM44312 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.511G>A p.E171K 17:7675101-7675101 11
7 COSM45449 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.592G>C p.E198Q 17:7674939-7674939 11
8 COSM45796 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.623A>G p.D208G 17:7674908-7674908 11
9 COSM10768 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.535C>T p.H179Y 17:7675077-7675077 11
10 COSM11073 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1024C>T p.R342* 17:7670685-7670685 11
11 COSM11166 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.406C>T p.Q136* 17:7675206-7675206 11
12 COSM5574229 TET2 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1918C>T p.Q640* 4:105235860-105235860 11
13 COSM42016 TET2 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.4393C>T p.R1465* 4:105272774-105272774 11
14 COSM5574231 TET2 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.521C>A p.P174H 4:105234463-105234463 11
15 COSM100075 TET2 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.4193T>C p.L1398P 4:105272574-105272574 11
16 COSM110772 TET2 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.4474G>T p.E1492* 4:105272855-105272855 11
17 COSM1716590 STAT5B haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1924A>C p.N642H 17:42207711-42207711 11
18 COSM1717514 STAT3 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1492A>G p.I498V 17:42324819-42324819 11
19 COSM1155743 STAT3 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1919A>T p.Y640F 17:42322464-42322464 11
20 COSM5574219 SETD1A haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1211G>A p.R404H 16:30964953-30964953 11
21 COSM5104 PTEN haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.392C>T p.T131I 10:87933151-87933151 11
22 COSM5159 PTEN haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.733C>T p.Q245* 10:87957951-87957951 11
23 COSM23568 PTEN haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.919G>A p.E307K 10:87961011-87961011 11
24 COSM3734685 PLCG1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1034C>T p.S345F 20:41163944-41163944 11
25 COSM5049787 PLCG1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1025A>G p.D342G 20:41163935-41163935 11
26 COSM5049788 PLCG1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1024G>A p.D342N 20:41163934-41163934 11
27 COSM3405078 PLCG1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.3487G>A p.E1163K 20:41173744-41173744 11
28 COSM3734686 PLCG1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1559C>T p.S520F 20:41165499-41165499 11
29 COSM5574251 PLCG1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.3473G>A p.R1158H 20:41173730-41173730 11
30 COSM5613080 PIK3CA haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1609C>T p.R537* 3:179218279-179218279 11
31 COSM580 NRAS haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.181C>A p.Q61K 1:114713909-114713909 11
32 COSM4591233 NCOR1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.534G>C p.K178N 17:16165063-16165063 11
33 COSM126825 NCOR1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.2125C>T p.Q709* 17:16108843-16108843 11
34 COSM5574213 NCOR1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.3360G>C p.E1120D 17:16080448-16080448 11
35 COSM5574204 NCOR1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.6038C>T p.P2013L 17:16058037-16058037 11
36 COSM5574211 NCOR1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.6322C>T p.Q2108* 17:16057584-16057584 11
37 COSM5574208 NCOR1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.76C>A p.Q26K 17:16194494-16194494 11
38 COSM532 KRAS haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.38G>A p.G13D 12:25245347-25245347 11
39 COSM5574196 KMT2D haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.11845C>T p.Q3949* 12:49032050-49032050 11
40 COSM5574193 KMT2D haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.4475G>C p.S1492T 12:49043902-49043902 11
41 COSM30358 KMT2D haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.7495G>A p.D2499N 12:49039283-49039283 11
42 COSM5574203 KMT2D haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.5923C>G p.L1975V 12:49041037-49041037 11
43 COSM51374 JAK3 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1533G>A p.M511I 19:17838299-17838299 11
44 COSM5574250 JAK3 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.3067T>C p.Y1023H 19:17830532-17830532 11
45 COSM34214 JAK3 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1715C>T p.A572V 19:17837200-17837200 11
46 COSM3734693 JAK1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1975C>T p.R659C 1:64846661-64846661 11
47 COSM5574248 JAK1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.2128C>G p.L710V 1:64844877-64844877 11
48 COSM2239136 JAK1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1961A>T p.Y654F 1:64846675-64846675 11
49 COSM5574188 DNMT3B haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.2292G>T p.R764S 20:32805398-32805398 11
50 COSM1025793 DNMT3B haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.895C>T p.R299* 20:32791682-32791682 11

Copy number variations for Sezary's Disease from CNVD:

7 (show top 50) (show all 353)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 38537 10 103280000 105830000 Deletion ACTR1A Sezary syndrome
2 38538 10 103280000 105830000 Deletion ARL3 Sezary syndrome
3 38539 10 103280000 105830000 Deletion BTRC Sezary syndrome
4 38540 10 103280000 105830000 Deletion COL17A1 Sezary syndrome
5 38541 10 103280000 105830000 Deletion CYP17A1 Sezary syndrome
6 38542 10 103280000 105830000 Deletion FGF8 Sezary syndrome
7 38543 10 103280000 105830000 Deletion LDB1 Sezary syndrome
8 38544 10 103280000 105830000 Deletion MGEA5 Sezary syndrome
9 38545 10 103280000 105830000 Deletion NEURL Sezary syndrome
10 38546 10 103280000 105830000 Deletion NFKB2 Sezary syndrome
11 38547 10 103280000 105830000 Deletion NT5C2 Sezary syndrome
12 38548 10 103280000 105830000 Deletion PCGF6 Sezary syndrome
13 38549 10 103280000 105830000 Deletion PDCD11 Sezary syndrome
14 38550 10 103280000 105830000 Deletion POLL Sezary syndrome
15 38551 10 103280000 105830000 Deletion PSD Sezary syndrome
16 38552 10 103280000 105830000 Deletion SH3PXD2A Sezary syndrome
17 38553 10 103280000 105830000 Deletion SLK Sezary syndrome
18 38554 10 103280000 105830000 Deletion SUFU Sezary syndrome
19 38555 10 103280000 105830000 Deletion TLX1 Sezary syndrome
20 38556 10 103280000 105830000 Deletion TRIM8 Sezary syndrome
21 39119 10 110240000 112960000 Deletion ADD3 Sezary syndrome
22 39120 10 110240000 112960000 Deletion DUSP5 Sezary syndrome
23 39121 10 110240000 112960000 Deletion MXI1 Sezary syndrome
24 39122 10 110240000 112960000 Deletion PDCD4 Sezary syndrome
25 39123 10 110240000 112960000 Deletion SMC3 Sezary syndrome
26 39709 10 118690000 123210000 Deletion BAG3 Sezary syndrome
27 39710 10 118690000 123210000 Deletion BRWD2 Sezary syndrome
28 39711 10 118690000 123210000 Deletion CASC2 Sezary syndrome
29 39712 10 118690000 123210000 Deletion EIF3S10 Sezary syndrome
30 39713 10 118690000 123210000 Deletion EMX2 Sezary syndrome
31 39714 10 118690000 123210000 Deletion FGFR2 Sezary syndrome
32 39715 10 118690000 123210000 Deletion GFRA1 Sezary syndrome
33 39716 10 118690000 123210000 Deletion HSPA12A Sezary syndrome
34 39717 10 118690000 123210000 Deletion INPP5F Sezary syndrome
35 39718 10 118690000 123210000 Deletion NANOS1 Sezary syndrome
36 39719 10 118690000 123210000 Deletion PRDX3 Sezary syndrome
37 39720 10 118690000 123210000 Deletion PRLHR Sezary syndrome
38 39721 10 118690000 123210000 Deletion RGS10 Sezary syndrome
39 39722 10 118690000 123210000 Deletion TIAL1 Sezary syndrome
40 40284 10 126610000 131820000 Deletion ADAM12 Sezary syndrome
41 40285 10 126610000 131820000 Deletion BCCIP Sezary syndrome
42 40286 10 126610000 131820000 Deletion CTBP2 Sezary syndrome
43 40287 10 126610000 131820000 Deletion DHX32 Sezary syndrome
44 40288 10 126610000 131820000 Deletion DOCK1 Sezary syndrome
45 40289 10 126610000 131820000 Deletion MGMT Sezary syndrome
46 40290 10 126610000 131820000 Deletion MKI67 Sezary syndrome
47 40291 10 126610000 131820000 Deletion MMP21 Sezary syndrome
48 40292 10 126610000 131820000 Deletion PTPRE Sezary syndrome
49 40293 10 126610000 131820000 Deletion ZRANB1 Sezary syndrome
50 42175 10 29840000 33170000 Deletion ARHGAP12 Sezary syndrome

Expression for Sezary's Disease

Search GEO for disease gene expression data for Sezary's Disease.

Pathways for Sezary's Disease

Pathways related to Sezary's Disease according to GeneCards Suite gene sharing:

(show all 47)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.03 BCL10 CD28 CTLA4 IFNG IFNGR2 IL2
2
Show member pathways
13.68 CD28 IFNG IFNGR2 IL2 IL2RA IL4
3
Show member pathways
13.55 IFNG IFNGR2 IL2 IL2RA IL4 IL5
4
Show member pathways
13.42 CD28 IL2 IL2RA IL4 IL5 IL7
5
Show member pathways
13.37 IFNG IFNGR2 IL2 IL2RA IL4 IL5
6
Show member pathways
13.3 CD28 IL2 IL2RA IL4 IL5 IL7
7
Show member pathways
13.22 BCL10 IFNG IFNGR2 IL2 IL2RA IL4
8 12.89 IFNG IFNGR2 IL2 IL2RA IL4 IL5
9
Show member pathways
12.84 CD28 IFNG IFNGR2 IL2 IL2RA IL4
10
Show member pathways
12.77 IL2 IL2RA IL4 IL7 TNFRSF1B
11
Show member pathways
12.64 BCL10 CD28 IFNG IFNGR2 IL2 IL2RA
12
Show member pathways
12.56 CD28 IFNG IFNGR2 IL2 IL2RA IL4
13
Show member pathways
12.53 IFNG IFNGR2 IL2 IL4 KIR3DL2
14
Show member pathways
12.49 IFNG IFNGR2 IL2 IL2RA IL4 IL5
15
Show member pathways
12.47 BCL10 CD28 CTLA4 IFNG IL2 IL4
16 12.47 BCL10 CD28 CTLA4 IFNG IL2 IL2RA
17
Show member pathways
12.47 BCL10 CD28 CTLA4 IFNG IFNGR2 IL2
18
Show member pathways
12.42 BCL10 CD28 CTLA4 IL2 IL2RA
19
Show member pathways
12.27 IFNG IL2 IL2RA IL4 IL5
20 12.23 BCL10 IFNG IFNGR2 TLR9
21
Show member pathways
12.19 IFNG IFNGR2 IL4 TLR9
22
Show member pathways
12.15 CD28 IFNG IFNGR2 IL2 STAT4 TLR9
23
Show member pathways
12.15 IFNG IFNGR2 IL2 IL2RA IL4 IL5
24
Show member pathways
12.08 IFNG IL2 IL2RA IL4 STAT4 TRB
25
Show member pathways
12.05 IL2 IL2RA IL5 TLR9
26 12.01 CD28 IFNG IL2 IL2RA IL4 IL5
27 11.94 IFNG IFNGR2 IL2 IL2RA STAT4
28 11.93 IL2RA IL4 IL5 IL7
29 11.89 IFNG IL2 IL2RA IL4 IL5 IL7
30
Show member pathways
11.85 CTLA4 IFNG IL2 IL2RA IL4 IL5
31 11.84 IFNG IL2 IL4 IL5
32 11.83 CD28 CTLA4 IFNG
33 11.74 IFNG IL2 TLR9
34 11.72 IFNG IL2 IL4
35
Show member pathways
11.7 IFNG IL2 IL2RA STAT4
36
Show member pathways
11.69 IL2 IL2RA IL4
37 11.59 CD28 TNFRSF1B TRB
38
Show member pathways
11.55 IFNG IFNGR2 TNFRSF1B
39 11.4 IFNG IL4 IL5 IL7
40 11.38 CD28 CTLA4 IL2 TRB
41 11.36 CD28 IFNG IL2 IL2RA IL4 IL5
42 11.32 CD28 IFNG IL2 IL2RA STAT4
43
Show member pathways
11.29 IFNG IL2RA STAT4
44 11.29 IFNG IL2 IL4 IL5
45 11.26 IFNG IL2 IL4 IL5 IL7 TRB
46 11.21 IL2 IL4 IL5 IL7
47 10.69 CD28 IFNG IL2 IL2RA IL4 IL5

GO Terms for Sezary's Disease

Cellular components related to Sezary's Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein complex involved in cell adhesion GO:0098636 8.62 CD28 CTLA4

Biological processes related to Sezary's Disease according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.95 IFNG IL2 IL4 IL5 IL7
2 positive regulation of gene expression GO:0010628 9.93 CD28 IFNG IL4 MIR223 TLR9
3 adaptive immune response GO:0002250 9.92 BCL10 CTLA4 IFNG IL2
4 cell surface receptor signaling pathway GO:0007166 9.83 CD28 IFNG IFNGR2 IL2RA TNFRSF1B
5 negative regulation of inflammatory response GO:0050728 9.8 IL2 IL2RA TNFRSF1B
6 cytokine-mediated signaling pathway GO:0019221 9.76 IFNGR2 IL2 IL2RA IL4 IL5 IL7
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.73 IFNG IL2 IL4
8 positive regulation of T cell proliferation GO:0042102 9.71 CD28 IL2 IL2RA IL4
9 humoral immune response GO:0006959 9.7 CD28 IFNG IL7
10 T cell costimulation GO:0031295 9.67 CD28 CTLA4 DPP4
11 T cell activation GO:0042110 9.65 CD28 DPP4 IL4
12 positive regulation of B cell proliferation GO:0030890 9.65 IL2 IL4 IL5 IL7 TLR9
13 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.63 IFNG TNFRSF1B
14 positive regulation of T cell differentiation GO:0045582 9.62 IL2 IL2RA IL4 IL7
15 negative regulation of immune response GO:0050777 9.61 CTLA4 IL2RA
16 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.6 IFNG IFNGR2
17 positive regulation of immunoglobulin secretion GO:0051024 9.59 IL2 IL5
18 response to molecule of bacterial origin GO:0002237 9.58 BCL10 TLR9
19 interleukin-2-mediated signaling pathway GO:0038110 9.58 IL2 IL2RA
20 positive regulation of interleukin-8 biosynthetic process GO:0045416 9.57 BCL10 TLR9
21 positive regulation of isotype switching to IgG isotypes GO:0048304 9.54 CD28 IL2 IL4
22 negative regulation of lymphocyte proliferation GO:0050672 9.51 IL2 IL2RA
23 regulation of T cell homeostatic proliferation GO:0046013 9.46 IL2 IL2RA
24 regulation of regulatory T cell differentiation GO:0045589 9.35 CD28 CTLA4 IFNG IL2 IL2RA
25 immune response GO:0006955 9.32 CD28 CTLA4 IFNG IL2 IL2RA IL4
26 immune system process GO:0002376 10.03 BCL10 CTLA4 IL2 IL2RA TLR9
27 positive regulation of cell proliferation GO:0008284 10.01 DPP4 IFNG IL2 IL5 IL7

Molecular functions related to Sezary's Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 9.43 BCL10 CD28 DPP4
2 growth factor activity GO:0008083 9.26 IL2 IL4 IL5 IL7
3 kinase activator activity GO:0019209 9.16 BCL10 IL2
4 cytokine activity GO:0005125 9.02 IFNG IL2 IL4 IL5 IL7

Sources for Sezary's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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