MCID: SZR001
MIFTS: 53

Sezary's Disease

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

Aliases & Classifications for Sezary's Disease

MalaCards integrated aliases for Sezary's Disease:

Name: Sezary's Disease 12 14
Sezary Syndrome 12 50 25 52 42 69
Sézary Syndrome 50 25 56
Sezary's Lymphoma 50 25
Sezary Erythroderma 25
Sézary Lymphoma 56
Sezary Disease 12

Characteristics:

Orphanet epidemiological data:

56
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 : 50 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. last updated: 8/3/2015

MalaCards based summary : Sezary's Disease, also known as sezary syndrome, is related to lymphoma and mycosis fungoides, and has symptoms including ectropion, dry skin and edema. An important gene associated with Sezary's Disease is BCL10 (B-Cell CLL/Lymphoma 10), and among its related pathways/superpathways are Innate Immune System and PEDF Induced Signaling. The drugs Denileukin diftitox and Aprepitant have been mentioned in the context of this disorder. Affiliated tissues include t cells, bone and bone marrow, and related phenotypes are hematopoietic system and endocrine/exocrine gland

Wikipedia : 72 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 143)
id Related Disease Score Top Affiliating Genes
1 lymphoma 30.8 CTLA4 IFNG IL2 IL4 IL5 TLR9
2 mycosis fungoides 11.5
3 myoclonic astatic epilepsy 11.0 IFNG IL4
4 visual snow syndrome 10.9 IL2 IL4
5 chronic graft versus host disease 10.9 CTLA4 IFNG IL2
6 hemophagocytic lymphohistiocytosis 10.9 CTLA4 IFNG IL2
7 bulbospinal polio 10.9 IFNG IL2
8 gastroschisis 10.9 IFNG IL5
9 dioctophymiasis 10.9 IL2 IL4 IL5
10 cd3zeta deficiency 10.8 CTLA4 IFNG IL2
11 eye accommodation disease 10.8 IFNG IL2RA IL4
12 graft-versus-host disease, protection against 10.8 IFNG IL2 IL2RA
13 lymphocytic colitis 10.8 IFNG IL2 IL4
14 opitz-kaveggia syndrome 10.8 IL2 IL4 IL7
15 parametritis 10.8 IFNG IL2 IL2RA
16 gonadal disease 10.8 IFNG IL2 IL4
17 cyclosporiasis 10.8 IFNG IL2 IL2RA
18 whistling face syndrome, recessive form 10.8 IL2 IL2RA IL5
19 autoimmune polyglandular syndrome type 3 10.8 IFNG IL2
20 cerebral sarcoidosis 10.8 IL2 IL2RA TRB
21 inflamed seborrheic keratosis 10.8 IL2 IL4 IL5
22 early congenital syphilis 10.8 IL2 TLR9 TNFRSF1B
23 orbital osteomyelitis 10.8 IFNG IL2 IL4
24 cloacogenic carcinoma 10.8 CTLA4 IFNG IL2
25 alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 10.8 IL2RA STAT4
26 left bundle branch hemiblock 10.8 IFNG IL2 IL2RA
27 erythema infectiosum 10.8 IFNG IL2 IL4
28 myelitis 10.8 IFNG IL2 IL2RA
29 loiasis 10.8 IFNG IL4 IL5
30 renal tubular acidosis 10.8 IFNG IL2 IL2RA
31 acute contagious conjunctivitis 10.8 IFNG IL4 IL5
32 trigeminal nerve disease 10.8 BCL10 CD7 TRB
33 acute vascular insufficiency of intestine 10.7 IFNG IL4 TLR9
34 blue toe syndrome 10.7 IFNG IL2 IL4
35 dieulafoy lesion 10.7 IFNG IL4 TLR9
36 vulvar nodular hidradenoma 10.7 IFNG IL2RA IL4
37 eyelid neoplasm 10.7 IL4 IL5 TLR9
38 balkan nephropathy 10.7 IFNG IL4 IL5
39 dehydration polycythemia 10.7 IL4 IL5 TLR9
40 churg-strauss syndrome 10.7 IFNG IL4 IL5
41 motor peripheral neuropathy 10.7 IFNG IL4 TLR9
42 sublingual gland cancer 10.7 IL4 IL5 TLR9
43 intestinal disaccharidase deficiency 10.7 CTLA4 IFNG IL2 IL2RA
44 pelvic varices 10.7 IL4 IL5 TLR9
45 immunodeficiency 11a 10.7 CD28 IL2 IL2RA TRB
46 dentin caries 10.7 IL4 IL5 TLR9
47 heart sarcoma 10.7 IFNG IL2 TLR9
48 neonatal stroke 10.7 CTLA4 IFNG IL2 IL4
49 anthracosilicosis 10.7 IFNG IL2
50 glaucomatocyclitic crisis 10.7 CTLA4 TNFRSF1B

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:

56 32 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ectropion 56 32 occasional (7.5%) Occasional (29-5%) HP:0000656
2 dry skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0000958
3 edema 56 32 occasional (7.5%) Occasional (29-5%) HP:0000969
4 palmoplantar keratoderma 56 32 frequent (33%) Frequent (79-30%) HP:0000982
5 pruritus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000989
6 erythroderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0001019
7 tremor 56 32 occasional (7.5%) Occasional (29-5%) HP:0001337
8 alopecia 56 32 frequent (33%) Frequent (79-30%) HP:0001596
9 splenomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0001744
10 abnormal facial shape 56 32 occasional (7.5%) Occasional (29-5%) HP:0001999
11 abnormality of the pleura 56 32 occasional (7.5%) Occasional (29-5%) HP:0002103
12 hepatomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002240
13 lymphadenopathy 56 32 hallmark (90%) Very frequent (99-80%) HP:0002716
14 immunodeficiency 56 32 frequent (33%) Frequent (79-30%) HP:0002721
15 skeletal muscle atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0003202
16 irregular hyperpigmentation 56 32 occasional (7.5%) Occasional (29-5%) HP:0007400
17 neoplasm of the skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0008069
18 nail dystrophy 56 32 frequent (33%) Frequent (79-30%) HP:0008404
19 peripheral neuropathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0009830
20 abnormal immunoglobulin level 56 32 occasional (7.5%) Occasional (29-5%) HP:0010701
21 cutaneous t-cell lymphoma 56 32 hallmark (90%) Very frequent (99-80%) HP:0012192
22 lichenification 56 32 hallmark (90%) Very frequent (99-80%) HP:0100725
23 gangrene 56 32 occasional (7.5%) Occasional (29-5%) HP:0100758
24 abnormality of the face 56 Frequent (79-30%)
25 lymphoma 56 Very frequent (99-80%)
26 abnormality of lymphocytes 56 Very frequent (99-80%)

UMLS symptoms related to Sezary's Disease:


pruritus

MGI Mouse Phenotypes related to Sezary's Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.13 BCL10 CCR4 CD28 CD7 CTLA4 IFNG
2 endocrine/exocrine gland MP:0005379 10.1 BCL10 CD28 CD7 CTLA4 DPP4 IFNG
3 digestive/alimentary MP:0005381 10.02 TLR9 TNFRSF1B CD28 CTLA4 IFNG IL2
4 homeostasis/metabolism MP:0005376 9.97 CD28 CTLA4 DPP4 IFNG IFNGR2 IL2
5 immune system MP:0005387 9.83 IFNGR2 IL2 IL2RA IL4 IL5 IL7
6 respiratory system MP:0005388 9.23 CCR4 CTLA4 IFNG IL2 IL2RA IL4

Drugs & Therapeutics for Sezary's Disease

Drugs for Sezary's Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 300)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Denileukin diftitox Approved, Investigational Phase 4 173146-27-5
2
Aprepitant Approved, Investigational Phase 4 170729-80-3 151165 6918365
3
Fosaprepitant Approved Phase 4 172673-20-0 219090
4
Vorinostat Approved, Investigational Phase 4,Phase 2,Phase 1 149647-78-9 5311
5
Substance P Investigational Phase 4 33507-63-0 44359816
6 Antiemetics Phase 4,Phase 3,Phase 2,Phase 1
7 Autonomic Agents Phase 4,Phase 3,Phase 2,Phase 1
8 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
11 neurokinin A Phase 4
12 Neurokinin-1 Receptor Antagonists Phase 4
13 Histone Deacetylase Inhibitors Phase 4,Phase 2,Phase 3,Phase 1
14
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
15
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Phase 1 22916-47-8 4189
16
Etoposide Approved Phase 2, Phase 3,Phase 1,Early Phase 1 33419-42-0 36462
17
Fludarabine Approved Phase 2, Phase 3, Phase 1 21679-14-1, 75607-67-9 30751
18
Melphalan Approved Phase 2, Phase 3,Phase 1 148-82-3 4053 460612
19 Thiotepa Approved Phase 2, Phase 3 52-24-4 5453
20
Lenalidomide Approved Phase 3,Phase 2,Phase 1 191732-72-6 216326
21
Bexarotene Approved, Investigational Phase 2, Phase 3, Phase 1 153559-49-0 82146
22
Panobinostat Approved, Investigational Phase 2, Phase 3, Phase 1 404950-80-7 6918837
23
Lenograstim Approved Phase 3,Phase 1,Phase 2 135968-09-1
24
Amphotericin B Approved, Investigational Phase 3 1397-89-3 14956 5280965
25
Darbepoetin alfa Approved, Investigational Phase 3,Phase 2 11096-26-7, 209810-58-2
26
Iron Approved Phase 3,Phase 2,Phase 1 7439-89-6 23925
27
Dextromethorphan Approved Phase 3 125-71-3 5360696 5362449
28
Guaifenesin Approved, Vet_approved Phase 3,Phase 2 93-14-1 3516
29
Morphine Approved, Investigational Phase 3 57-27-2 5288826
30
Ondansetron Approved Phase 3,Phase 2 99614-02-5 4595
31
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
32
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
33
Ofloxacin Approved Phase 3 82419-36-1 4583
34
Busulfan Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 55-98-1 2478
35
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 498142 38904
36
Cyclophosphamide Approved, Investigational Phase 2, Phase 3,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
37
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
38
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
39
Moxifloxacin Approved, Investigational Phase 3 354812-41-2, 151096-09-2 152946
40
Norgestimate Approved Phase 3 35189-28-7 6540478
41
Methoxsalen Approved Phase 3 298-81-7 4114
42
Ginseng Approved, Nutraceutical Phase 3 50647-08-0
43 Pancreatic Polypeptide Investigational Phase 3 59763-91-6
44 Analgesics Phase 3,Phase 1,Phase 2
45 Anesthetics Phase 3
46 Anesthetics, Dissociative Phase 3
47 Anesthetics, General Phase 3
48 Anesthetics, Intravenous Phase 3
49 Central Nervous System Depressants Phase 3,Phase 2,Phase 1
50 Excitatory Amino Acid Antagonists Phase 3

Interventional clinical trials:

(show top 50) (show all 258)

id Name Status NCT ID Phase Drugs
1 Study of ONTAK (Denileukin Diftitox) in Cutaneous T-Cell Lymphoma (CTCL) Patients Completed NCT00050999 Phase 4 ONTAK
2 Study of ONTAK (Denileukin Diftitox) in Previously Treated Cutaneous T-Cell Lymphoma Patients Completed NCT00051012 Phase 4 ONTAK
3 Effect of Neurokinin-1 Receptor (NK1R) Antagonism on Pruritus in Patients With Sezary Syndrome Terminated NCT01625455 Phase 4 Aprepitant;Placebo
4 Impact of Vorinostat on Pruritus Signaling Pathways - Merck Study Withdrawn NCT01801670 Phase 4
5 Ketamine Hydrochloride and Best Pain Management in Treating Cancer Patients With Neuropathic Pain Unknown status NCT01316744 Phase 3 ketamine hydrochloride
6 Study of Oral LBH589 in Adult Patients With Refractory Cutaneous T-Cell Lymphoma Completed NCT00425555 Phase 2, Phase 3 Panobinostat
7 Sibling Donor Peripheral Stem Cell Transplant or Sibling Donor Bone Marrow Transplant in Treating Patients With Hematologic Cancers or Other Diseases Completed NCT00438958 Phase 3
8 Study of Oral LBH589 in Adult Patients With Refractory/Resistant Cutaneous T-Cell Lymphoma Completed NCT00490776 Phase 2, Phase 3 LBH589
9 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3 American ginseng
10 Opioid Titration Order Sheet or Standard Care in Treating Patients With Cancer Pain Completed NCT00666211 Phase 3
11 Personalized Information or Basic Information in Helping Patients Make Decisions About Participating in a Clinical Trial Completed NCT00750009 Phase 3
12 Liposomal Amphotericin B in Treating Granulocytopenia and Persistent Unexplained Fever in Cancer Patients Completed NCT00003938 Phase 3 liposomal amphotericin B
13 Darbepoetin Alfa With or Without Iron in Treating Anemia Caused By Chemotherapy in Patients With Cancer Completed NCT00661999 Phase 3 sodium ferric gluconate complex in sucrose
14 Darbepoetin Alfa Compared With Epoetin Alfa in Treating Anemia in Patients Receiving Chemotherapy for Cancer Completed NCT00070382 Phase 3 darbepoetin alfa;epoetin alfa
15 Treatment for Chronic Pain in Patients With Advanced Cancer Completed NCT00003687 Phase 3 dextromethorphan hydrobromide;morphine sulfate
16 Ondansetron in Treating Patients With Advanced Cancer and Chronic Nausea and Vomiting Not Caused by Cancer Treatment Completed NCT00006348 Phase 3 ondansetron
17 Music Therapy or Book Discussion in Improving Quality of Life in Young Patients Undergoing Stem Cell Transplant Completed NCT00305851 Phase 3
18 Fentanyl Sublingual Spray in Treating Patients With Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
19 Valacyclovir in Preventing Cytomegalovirus Infection in Patients Who Are Undergoing Donor Stem Cell Transplantation Completed NCT00045292 Phase 3 acyclovir;acyclovir sodium;valacyclovir
20 Levofloxacin to Prevent Infection Following Chemotherapy in Treating Patients With Solid Tumors or Lymphoma Completed NCT00005590 Phase 3 levofloxacin
21 Combination Chemotherapy and Donor Stem Cell Transplant in Treating Patients With Aplastic Anemia or Hematologic Cancer Active, not recruiting NCT00003816 Phase 2, Phase 3 busulfan;carboplatin;cyclophosphamide;etoposide;fludarabine phosphate;melphalan;thiotepa
22 Lenalidomide Maintenance Post-debulking in Advanced CTCL Terminated NCT01098656 Phase 3 lenalidomide
23 Study of Human Monoclonal Antibody to Treat Mycosis Fungoides and Sezary Syndrome Terminated NCT00127881 Phase 3 HuMax-CD4 (zanolimumab)
24 Moxifloxacin in Preventing Bacterial Infections in Patients Who Have Undergone Donor Stem Cell Transplant Terminated NCT00324324 Phase 3 moxifloxacin hydrochloride;Placebo
25 Ultraviolet Light Therapy Using Methoxsalen With or Without Bexarotene in Treating Patients With Mycosis Fungoides Terminated NCT00056056 Phase 3 bexarotene;methoxypsoralen
26 Combination Chemotherapy Followed by Donor Bone Marrow Transplant or Peripheral Stem Cell Transplant in Treating Patients With Hematologic Cancer or Genetic Disorders Unknown status NCT00008307 Phase 2 cyclosporine;fludarabine phosphate;melphalan;methylprednisolone;mycophenolate mofetil
27 Open-label Pilot Study of Lenalidomide (Revlimid) as Adjuvant Treatment for Refractory Cutaneous T Cell Lymphoma Unknown status NCT01132989 Phase 2 Lenalidomide
28 Brentuximab Vedotin + Rituximab as Frontline Therapy for Pts w/ CD30+ and/or EBV+ Lymphomas Unknown status NCT01805037 Phase 1, Phase 2 brentuximab vedotin
29 Lenalidomide as Maintenance Therapy After Combination Chemotherapy With or Without Rituximab and Stem Cell Transplant in Treating Patients With Persistent or Recurrent Non-Hodgkin Lymphoma That is Resistant to Chemotherapy Unknown status NCT01035463 Phase 1, Phase 2 lenalidomide;carmustine;etoposide;cytarabine;melphalan
30 Study of Alemtuzumab to Treat Advanced Mycosis Fungoides/Sezary Syndrome Unknown status NCT00157274 Phase 2 alemtuzumab
31 Vaccine Therapy and GM-CSF in Treating Patients With CNS Lymphoma Unknown status NCT00621036 Phase 2 methotrexate;thiotepa
32 Umbilical Cord Blood and Placental Blood Transplantation in Treating Patients With Hematologic Cancer or Aplastic Anemia Unknown status NCT00008164 Phase 2
33 External-Beam Radiation Therapy With or Without Indinavir and Ritonavir in Treating Patients With Brain Metastases Unknown status NCT00637637 Phase 2 indinavir sulfate;ritonavir
34 Combination Chemotherapy in Patients With Advanced or Recurrent Mycosis Fungoides Unknown status NCT00002557 Phase 2 CHOP regimen;doxorubicin hydrochloride;etoposide;leucovorin calcium;methotrexate
35 Brentuximab Vedotin (SGN-35) in Patients With Mycosis Fungoides With Variable CD30 Expression Level Completed NCT01396070 Phase 2 Brentuximab vedotin
36 Immunization Against Tumor Cells in Sezary Syndrome Completed NCT00099593 Phase 2
37 Oral SAHA (Suberoylanilide Hydroxamic Acid) in Advanced Cutaneous T-cell Lymphoma (0683-001) Completed NCT00091559 Phase 2 MK0683, vorinostat, Suberoylanilide Hydroxamic Acid (SAHA) / Duration of Treatment 6 Months
38 Beclomethasone Dipropionate in Preventing Acute Graft-Versus-Host Disease in Patients Undergoing a Donor Stem Cell Transplant for Hematologic Cancer Completed NCT00489203 Phase 2 beclomethasone dipropionate;placebo;tacrolimus;methotrexate
39 Interleukin-12 in Treating Patients With Previously Treated Non-Hodgkin's Lymphoma or Hodgkin's Disease Completed NCT00003210 Phase 2
40 Cyclophosphamide for Prevention of Graft-Versus-Host Disease After Allogeneic Peripheral Blood Stem Cell Transplantation in Patients With Hematological Malignancies Completed NCT01427881 Phase 2 cyclophosphamide;cyclosporine;fludarabine phosphate;busulfan
41 A-dmDT390-bisFv(UCHT1) Immunotoxin Therapy for Patients With Cutaneous T-Cell Lymphoma (CTCL) Completed NCT00611208 Phase 2
42 Deferasirox in Treating Iron Overload Caused By Blood Transfusions in Patients With Hematologic Malignancies Completed NCT01273766 Phase 2 deferasirox
43 Extension Study in Subjects Who Relapsed After Complete Response on Study KW-0761-001 Completed NCT01226472 Phase 2
44 Beclomethasone in Treating Patients With Graft-Versus-Host Disease of the Esophagus, Stomach, Small Intestine, or Colon Completed NCT00010283 Phase 1, Phase 2 beclomethasone dipropionate
45 Study of Oral Bexarotene in Combination With Photopheresis for Treatment of Cutaneous T-Cell Lymphoma Completed NCT00306969 Phase 1, Phase 2 bexarotene
46 Peripheral Blood Lymphocyte Therapy to Prevent Lymphoproliferative Disorders Caused by Epstein-Barr Virus in Patients Who Have Undergone Transplantation Completed NCT00005606 Phase 2
47 Methotrexate and Glucocorticoids in Treating Patients With Newly Diagnosed Acute Graft-Versus-Host Disease After Donor Stem Cell Transplant Completed NCT00357084 Phase 2 methotrexate;methylprednisolone;prednisone
48 A Study of APO866 for the Treatment of Cutaneous T-cell Lymphoma Completed NCT00431912 Phase 2 APO866
49 Campath-1H + FK506 and Methylprednisolone for GVHD Completed NCT00109993 Phase 2 methylprednisolone;tacrolimus
50 Tacrolimus and Mycophenolate Mofetil in Preventing Acute Graft-Versus-Host Disease in Patients With Advanced Hematologic Cancer Who Are Undergoing Donor Stem Cell Transplantation Completed NCT00096096 Phase 2 mycophenolate mofetil;tacrolimus

Search NIH Clinical Center for Sezary's Disease

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: sezary syndrome

Genetic Tests for Sezary's Disease

Anatomical Context for Sezary's Disease

MalaCards organs/tissues related to Sezary's Disease:

39
T Cells, Bone, Bone Marrow, Skin, Lymph Node, Liver, Kidney

Publications for Sezary's Disease

Variations for Sezary's Disease

ClinVar genetic disease variations for Sezary's Disease:

6
id 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

Cosmic variations for Sezary's Disease:

9 (show top 50) (show all 88)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM5574238 ZEB1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.752A>G p.Y251C 8
2 COSM5574244 ZEB1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.2668A>C p.T890P 8
3 COSM5574236 ZEB1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.517C>T p.P173S 8
4 COSM11073 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1024C>T p.R342* 8
5 COSM11166 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.406C>T p.Q136* 8
6 COSM44854 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.655C>A p.P219T 8
7 COSM44036 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.296C>T p.S99F 8
8 COSM44312 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.511G>A p.E171K 8
9 COSM45449 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.592G>C p.E198Q 8
10 COSM45796 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.623A>G p.D208G 8
11 COSM10768 TP53 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.535C>T p.H179Y 8
12 COSM110772 TET2 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.4474G>T p.E1492* 8
13 COSM5574229 TET2 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1918C>T p.Q640* 8
14 COSM42016 TET2 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.4393C>T p.R1465* 8
15 COSM5574231 TET2 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.521C>A p.P174H 8
16 COSM100075 TET2 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.4193T>C p.L1398P 8
17 COSM1716590 STAT5B haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1924A>C p.N642H 8
18 COSM1717514 STAT3 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1492A>G p.I498V 8
19 COSM1155743 STAT3 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1919A>T p.Y640F 8
20 COSM5574219 SETD1A haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1211G>A p.R404H 8
21 COSM3734685 PLCG1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1034C>T p.S345F 8
22 COSM5574251 PLCG1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.3473G>A p.R1158H 8
23 COSM3734686 PLCG1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1559C>T p.S520F 8
24 COSM5049787 PLCG1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1025A>G p.D342G 8
25 COSM5049788 PLCG1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1024G>A p.D342N 8
26 COSM3405078 PLCG1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.3487G>A p.E1163K 8
27 COSM580 NRAS haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.181C>A p.Q61K 8
28 COSM4591233 NCOR1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.534G>C p.K178N 8
29 COSM5574213 NCOR1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.3360G>C p.E1120D 8
30 COSM5574204 NCOR1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.6038C>T p.P2013L 8
31 COSM5574211 NCOR1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.6322C>T p.Q2108* 8
32 COSM126825 NCOR1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.2125C>T p.Q709* 8
33 COSM5574208 NCOR1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.76C>A p.Q26K 8
34 COSM5574196 KMT2D haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.11845C>T p.Q3949* 8
35 COSM5574193 KMT2D haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.4475G>C p.S1492T 8
36 COSM30358 KMT2D haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.7495G>A p.D2499N 8
37 COSM5574203 KMT2D haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.5923C>G p.L1975V 8
38 COSM34214 JAK3 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1715C>T p.A572V 8
39 COSM51374 JAK3 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1533G>A p.M511I 8
40 COSM5574250 JAK3 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.3067T>C p.Y1023H 8
41 COSM5574248 JAK1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.2128C>G p.L710V 8
42 COSM2239136 JAK1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1961A>T p.Y654F 8
43 COSM3734693 JAK1 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1975C>T p.R659C 8
44 COSM5574188 DNMT3B haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.2292G>T p.R764S 8
45 COSM1025793 DNMT3B haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.895C>T p.R299* 8
46 COSM5574184 DNMT3A haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.2120G>A p.G707D 8
47 COSM5574186 DNMT3A haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1752C>A p.Y584* 8
48 COSM220934 CARD11 haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1201G>A p.D401N 8
49 COSM403987 BCOR haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.4274A>G p.N1425S 8
50 COSM5574176 ARID5B haematopoietic and lymphoid tissue,skin,lymphoid neoplasm,mycosis fungoides-Sezary syndrome c.1444A>T p.K482* 8

Copy number variations for Sezary's Disease from CNVD:

7 (show top 50) (show all 353)
id 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 48)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.06 BCL10 CD28 CTLA4 IFNG IFNGR2 IL2
2
Show member pathways
13.68 CCR4 CD28 IFNG IFNGR2 IL2 IL2RA
3
Show member pathways
13.57 IFNG IFNGR2 IL2 IL2RA IL4 IL5
4
Show member pathways
13.46 CCR4 CD28 IL2 IL2RA IL4 IL5
5
Show member pathways
13.39 IFNG IFNGR2 IL2 IL2RA IL4 IL5
6
Show member pathways
13.33 CCR4 CD28 IL2 IL2RA IL4 IL5
7
Show member pathways
13.24 BCL10 IFNG IFNGR2 IL2 IL2RA IL4
8
Show member pathways
12.9 CD28 CTLA4 IFNG IL2 IL2RA IL4
9
Show member pathways
12.85 CD28 IFNG IFNGR2 IL2 IL2RA IL4
10
Show member pathways
12.78 IL2 IL2RA IL4 IL7 TNFRSF1B
11
Show member pathways
12.67 BCL10 CD28 IFNG IFNGR2 IL2 IL2RA
12
Show member pathways
12.6 CD28 IFNG IFNGR2 IL2 IL2RA IL4
13
Show member pathways
12.55 IFNG IFNGR2 IL2 IL4 KIR3DL2
14 12.52 BCL10 CTLA4 IFNG IL2 IL2RA IL4
15
Show member pathways
12.51 BCL10 CD28 CTLA4 IFNG IL2 IL4
16
Show member pathways
12.42 BCL10 CD28 CTLA4 IL2 IL2RA
17 12.24 BCL10 IFNG IFNGR2 TLR9
18
Show member pathways
12.2 IFNG IFNGR2 IL4 TLR9
19
Show member pathways
12.18 IFNG IL2 IL4 IL5
20
Show member pathways
12.16 IFNG IFNGR2 IL2 IL2RA IL4 IL5
21
Show member pathways
12.08 IFNG IL2 IL2RA IL4 STAT4 TRB
22
Show member pathways
12.06 IL2 IL2RA IL5 TLR9
23 12.05 CD28 IFNG IL2 IL2RA IL4 IL5
24
Show member pathways
12.04 CD28 IFNG IFNGR2 IL2 STAT4 TLR9
25 11.98 CD7 IL2RA IL4 IL5 IL7
26
Show member pathways
11.98 CD28 IFNG IL4 STAT4 TLR9
27 11.97 IFNG IFNGR2 IL2 IL2RA STAT4
28
Show member pathways
11.88 CTLA4 IFNG IL2 IL2RA IL4 IL5
29 11.85 IFNG IL2 IL4 IL5
30 11.83 CD28 CTLA4 IFNG
31 11.8 CD28 CTLA4 IL2RA IL4 IL5 TLR9
32 11.75 IFNG IL2 TLR9
33
Show member pathways
11.71 IFNG IL2 IL2RA STAT4
34
Show member pathways
11.7 IL2 IL2RA IL4
35 11.7 CD7 IFNG IL2 IL2RA IL4 IL5
36 11.59 CD28 TNFRSF1B TRB
37
Show member pathways
11.55 IFNG IFNGR2 TNFRSF1B
38
Show member pathways
11.51 IFNG IL2 IL2RA TNFRSF1B
39 11.4 IFNG IL4 IL5 IL7
40 11.38 CD28 CTLA4 IL2 TRB
41 11.36 CD28 IFNG IL2 IL2RA STAT4
42
Show member pathways
11.28 IFNG IL2RA STAT4
43 11.28 IFNG IL2 IL4 IL5
44 11.22 IL2 IL4 IL5 IL7
45 11.17 CD28 IFNG IL2 IL2RA IL4 IL5
46 11.11 IFNG IL2 IL4 IL5 IL7 TRB
47 10.88 IL4 IL5
48 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:

id Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.1 CCR4 CD28 CTLA4 IFNG IL2RA IL4
2 protein complex involved in cell adhesion GO:0098636 8.96 CD28 CTLA4

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

(show all 29)
id Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.97 CCR4 IL2RA IL5 TLR9 TNFRSF1B
2 immune system process GO:0002376 9.93 BCL10 CD7 CTLA4 IL2 IL2RA TLR9
3 cell surface receptor signaling pathway GO:0007166 9.89 CD28 IFNG IFNGR2 IL2RA TNFRSF1B
4 negative regulation of inflammatory response GO:0050728 9.81 IL2 IL2RA TNFRSF1B
5 adaptive immune response GO:0002250 9.8 BCL10 CD7 CTLA4 IFNG IL2
6 T cell costimulation GO:0031295 9.79 CD28 CTLA4 DPP4
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.77 IFNG IL2 IL4
8 positive regulation of T cell proliferation GO:0042102 9.77 CD28 IFNG IL2 IL2RA IL4
9 cellular defense response GO:0006968 9.75 BCL10 IL4 KIR3DL2
10 humoral immune response GO:0006959 9.73 CD28 IFNG IL7
11 positive regulation of activated T cell proliferation GO:0042104 9.65 IL2 IL2RA IL4
12 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.64 IFNG TNFRSF1B
13 negative regulation of immune response GO:0050777 9.64 CTLA4 IL2RA
14 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.63 IFNG IFNGR2
15 response to molecule of bacterial origin GO:0002237 9.62 BCL10 TLR9
16 positive regulation of immunoglobulin secretion GO:0051024 9.62 IL2 IL5
17 positive regulation of T cell differentiation GO:0045582 9.62 IL2 IL2RA IL4 IL7
18 positive regulation of chemokine biosynthetic process GO:0045080 9.61 IFNG IL4
19 positive regulation of interleukin-10 production GO:0032733 9.61 CD28 IL4 TLR9
20 positive regulation of MHC class II biosynthetic process GO:0045348 9.58 IFNG IL4
21 positive regulation of B cell proliferation GO:0030890 9.56 IL2 IL4 IL5 IL7
22 negative regulation of lymphocyte proliferation GO:0050672 9.55 IL2 IL2RA
23 negative regulation of T-helper 17 cell differentiation GO:2000320 9.54 IL2 IL4
24 regulation of T cell homeostatic proliferation GO:0046013 9.51 IL2 IL2RA
25 positive regulation of isotype switching to IgG isotypes GO:0048304 9.46 CD28 IFNG IL2 IL4
26 immune response GO:0006955 9.36 CCR4 CD28 CD7 CTLA4 IFNG IL2
27 positive regulation of immunoglobulin production GO:0002639 9.3 IL4
28 regulation of regulatory T cell differentiation GO:0045589 8.65 CD28
29 positive regulation of cell proliferation GO:0008284 10 DPP4 IFNG IL2 IL4 IL5 IL7

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

id Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 9.26 IL2 IL4 IL5 IL7
2 kinase activator activity GO:0019209 9.16 BCL10 IL2
3 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
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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