MCID: EVN001
MIFTS: 47

Evans' Syndrome

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Evans' Syndrome

MalaCards integrated aliases for Evans' Syndrome:

Name: Evans' Syndrome 12 15
Evans Syndrome 54 60 56 45 74
Autoimmune Hemolytic Anemia and Autoimmune Thrombocytopenia 54 60
Immune Pancytopenia 60
Evan's Syndrome 77
Evan Syndrome 54

Characteristics:

Orphanet epidemiological data:

60
evans syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult,Childhood;

Classifications:



Summaries for Evans' Syndrome

NIH Rare Diseases : 54 Evans syndrome is a very rare autoimmune disorder in which the immune system destroys the body's red blood cells, white blood cells and/or platelets. Affected people often experience thrombocytopenia (too few platelets) and Coombs' positive hemolytic anemia (premature destruction of red blood cells). Signs and symptoms may include purpura, paleness, fatigue, and light-headedness. The exact cause of this condition is unknown. The best treatment options for Evans syndrome depend on many factors, including the severity of the condition; the signs and symptoms present; and each person's response to certain therapies.

MalaCards based summary : Evans' Syndrome, also known as evans syndrome, is related to autoimmune lymphoproliferative syndrome and hemolytic-uremic syndrome. An important gene associated with Evans' Syndrome is TPP2 (Tripeptidyl Peptidase 2). The drugs Tacrolimus and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and bone, and related phenotypes are autoimmune hemolytic anemia and autoimmune thrombocytopenia

Wikipedia : 77 Evans syndrome is an autoimmune disease in which an individual''s immune system attacks their own red... more...

Related Diseases for Evans' Syndrome

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

(show top 50) (show all 154)
# Related Disease Score Top Affiliating Genes
1 autoimmune lymphoproliferative syndrome 29.6 CTLA4 LRBA
2 hemolytic-uremic syndrome 29.4 ADAMTS13 HP
3 spastic paraplegia and evans syndrome 12.1
4 tylosis with esophageal cancer 11.9
5 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome 11.4
6 papillon-lefevre syndrome 11.1
7 thrombocytopenia 10.3
8 lupus erythematosus 10.3
9 systemic lupus erythematosus 10.3
10 hemolytic anemia 10.3
11 pancytopenia 10.3
12 lymphoma 10.2
13 purpura 10.2
14 hepatitis 10.2
15 anemia, autoimmune hemolytic 10.1
16 glomerulonephritis 10.1
17 common variable immunodeficiency 10.1
18 autoimmune hepatitis 10.0
19 thrombosis 10.0
20 dermatomyositis 10.0
21 thrombocytopenia due to platelet alloimmunization 10.0
22 thrombotic thrombocytopenic purpura, congenital 10.0 ADAMTS13 HP
23 lrba deficiency 10.0 CTLA4 LRBA
24 hashimoto thyroiditis 10.0
25 thrombocytopenic purpura, autoimmune 10.0
26 thrombophilia due to thrombin defect 10.0
27 deficiency anemia 10.0
28 leukemia 10.0
29 lymphoproliferative syndrome 10.0
30 lymphocytic leukemia 10.0
31 graves' disease 10.0
32 pure red-cell aplasia 10.0
33 thyroiditis 10.0
34 von hippel-lindau syndrome 10.0
35 homocysteinemia 10.0
36 lung abscess 10.0
37 acute pancreatitis 10.0
38 membranoproliferative glomerulonephritis 10.0
39 gastric adenocarcinoma 10.0
40 pancreatitis 10.0
41 pulmonary embolism 10.0
42 acquired hemophilia 10.0
43 autoimmune disease of blood 9.9 ADAMTS13 HP
44 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 9.9 CTLA4 LRBA
45 bilirubin metabolic disorder 9.9 ADAMTS13 HP
46 urinary schistosomiasis 9.9 CTLA4 HP
47 leukemia, chronic lymphocytic 2 9.9
48 biliary cirrhosis, primary, 1 9.9
49 leukemia, chronic lymphocytic 9.9
50 retinal detachment 9.9

Graphical network of the top 20 diseases related to Evans' Syndrome:



Diseases related to Evans' Syndrome

Symptoms & Phenotypes for Evans' Syndrome

Human phenotypes related to Evans' Syndrome:

60 33 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmune hemolytic anemia 60 33 obligate (100%) Obligate (100%) HP:0001890
2 autoimmune thrombocytopenia 60 33 obligate (100%) Obligate (100%) HP:0001973
3 petechiae 60 33 hallmark (90%) Very frequent (99-80%) HP:0000967
4 neutropenia in presence of anti-neutropil antibodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0001904
5 muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0001324
6 fatigue 60 33 frequent (33%) Frequent (79-30%) HP:0012378
7 dyspnea 60 33 frequent (33%) Frequent (79-30%) HP:0002094
8 pallor 60 33 frequent (33%) Frequent (79-30%) HP:0000980
9 jaundice 60 33 frequent (33%) Frequent (79-30%) HP:0000952
10 epistaxis 60 33 frequent (33%) Frequent (79-30%) HP:0000421
11 bruising susceptibility 60 33 frequent (33%) Frequent (79-30%) HP:0000978
12 lethargy 60 33 frequent (33%) Frequent (79-30%) HP:0001254
13 syncope 60 33 occasional (7.5%) Occasional (29-5%) HP:0001279

MGI Mouse Phenotypes related to Evans' Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.8 ADAMTS13 CTLA4 HP LRBA MYB RHBDF2
2 endocrine/exocrine gland MP:0005379 9.72 AANAT CTLA4 MYB RHBDF2 TPP2
3 immune system MP:0005387 9.7 ADAMTS13 CTLA4 HP LRBA MYB RHBDF2
4 liver/biliary system MP:0005370 9.26 CTLA4 HP MYB RHBDF2
5 pigmentation MP:0001186 8.8 ADAMTS13 CTLA4 RHBDF2

Drugs & Therapeutics for Evans' Syndrome

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

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 4 104987-11-3 6473866 445643 439492
2 Immunosuppressive Agents Phase 4,Phase 1,Phase 2
3 Immunologic Factors Phase 4,Phase 1,Phase 2
4 Calcineurin Inhibitors Phase 4
5
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 5284616 6436030
6
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
7
Everolimus Approved Phase 1, Phase 2 159351-69-6 70789204 6442177
8 Anti-Bacterial Agents Phase 1, Phase 2
9 Anti-Infective Agents Phase 1, Phase 2
10 Antifungal Agents Phase 1, Phase 2
11 Antibiotics, Antitubercular Phase 1, Phase 2
12
Cyclophosphamide Approved, Investigational Phase 1 50-18-0, 6055-19-2 2907

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Tacrolimus Treatment for Refractory Autoimmune Cytopenia Not yet recruiting NCT03918265 Phase 4 Tacrolimus
2 Sirolimus for Autoimmune Disease of Blood Cells Active, not recruiting NCT00392951 Phase 1, Phase 2 sirolimus
3 Treatment of Autoimmune Thrombocytopenia (AITP) Completed NCT00001630 Phase 1
4 Severe Immune Cytopenia Registry Www.Sic-reg.Org Recruiting NCT03576742
5 Autoimmune Cytopenia: Genetics and Pathophysiological Mechanism in Pediatric Evans Syndrome Not yet recruiting NCT03912129 Not Applicable
6 EBMT ADWP Prospective Non-interventional Study: Post-AHSCT Management in SSC Patients (NISSC-2) Not yet recruiting NCT03444805

Search NIH Clinical Center for Evans' Syndrome

Cochrane evidence based reviews: evans syndrome

Genetic Tests for Evans' Syndrome

Anatomical Context for Evans' Syndrome

MalaCards organs/tissues related to Evans' Syndrome:

42
B Cells, T Cells, Bone, Thyroid, Prostate, Bone Marrow, Lung

Publications for Evans' Syndrome

Articles related to Evans' Syndrome:

(show top 50) (show all 266)
# Title Authors Year
1
A Case of Pregnancy Complicated with Evans Syndrome with Sequential Development of Autoimmune Warm Antibody Hemolytic Anemia and Idiopathic Thrombocytopenic Purpura. ( 30733882 )
2019
2
Systemic Lupus Erythematosus, Evans Syndrome, and Neurofibromatosis: An Unusual Combination in Pediatric Patient. ( 31033790 )
2019
3
Neurological Involvement in Childhood Evans Syndrome. ( 30671780 )
2019
4
CD5+ B lymphocytes secrete IL-10 rather than TGF-β1 which control the immune response in autoimmune haemolytic anaemia/Evans syndrome. ( 30784322 )
2019
5
Premacular haemorrhage in a child with Evans syndrome. ( 30898948 )
2019
6
Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes. ( 30940614 )
2019
7
Evans Syndrome. ( 31061968 )
2019
8
Babesiosis Masquerading as Evans Syndrome. ( 30904506 )
2019
9
Interleukin-17-producing angioimmunoblastic T-cell lymphoma with Evans syndrome. ( 30592297 )
2018
10
Relapsing Evans syndrome and systemic lupus erythematosus with antiphospholipid syndrome treated with Bortezomib in combination with plasma exchange. ( 30543928 )
2018
11
miR-150 regulates B lymphocyte in autoimmune hemolytic anemia/Evans syndrome by c-Myb. ( 29488168 )
2018
12
Parvovirus B19-triggered Acute Hemolytic Anemia and Thrombocytopenia in a Child with Evans Syndrome. ( 29531655 )
2018
13
Evans syndrome secondary to undiagnosed chronic lymphocytic leukemia in a patient with unexplained bleeding. ( 29341268 )
2018
14
Scrotal Pyoderma Gangrenosum Associated with Evans Syndrome. ( 30131462 )
2018
15
Anesthetic management of laparoscopic splenectomy in a case of Evans Syndrome with systemic lupus erythematosis. ( 30104849 )
2018
16
Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations. ( 29330115 )
2018
17
Evans Syndrome After Successful Immunosuppressant-Free Living-Donor Liver Transplant. ( 29911962 )
2018
18
Plasma Exchanges for Refractory Evans Syndrome. ( 29998628 )
2018
19
A survey study with assessment of esophageal screening and genetic counseling in patients with Howel-Evans syndrome. ( 30142717 )
2018
20
Successful Treatment of an Adolescent Male With Severe Refractory Evans Syndrome Using Bortezomib-based Therapy. ( 30299351 )
2018
21
Evans syndrome: clinical perspectives, biological insights and treatment modalities. ( 30349415 )
2018
22
A rare case of Evans syndrome associated with sudden loss of vision: A case report. ( 30394803 )
2018
23
Steroid-resistant autoimmune myelofibrosis in a patient with autoimmune hepatitis and Evans syndrome complicated with increased expression of TGF-β in the bone marrow: a case report. ( 28584963 )
2017
24
Association of autoimmune hepatitis type 1 in a child with Evans syndrome. ( 28878866 )
2017
25
Edematous Dermatomyositis with Probable Evans Syndrome. ( 28407870 )
2017
26
Endogenous mycotic endophthalmitis in a dog with candiduria and Evans syndrome. ( 26938883 )
2017
27
Persistent Fever in Medical Intensive Care Unit: Evans Syndrome Versus Actinomycotic Osteomyelitis? ( 28092284 )
2017
28
Sirolimus as an Effective Agent in the Treatment of Immune Thrombocytopenia (ITP) and Evans Syndrome (ES): A Single Institution's Experience. ( 28267088 )
2017
29
Evans Syndrome as First Manifestation of Primary Immunodeficiency in Clinical Practice. ( 28937520 )
2017
30
Evans Syndrome Complicated by Intratubular Hemoglobin Cast Nephropathy. ( 29163997 )
2017
31
Paraneoplastic Evans syndrome in a patient with adenocarcinoma of the lung: A case report. ( 28055149 )
2017
32
Disseminated tuberculosis with Evans syndrome: an uncommon presentation. ( 28118797 )
2017
33
Natural History, Pathogenesis, and Treatment of Evans Syndrome in Children. ( 28654461 )
2017
34
Diagnostic dilemma: ALPS versus Evans syndrome. ( 28802957 )
2017
35
Isolated non-traumatic, non-aneurysmal convexal subarachnoid hemorrhage in a patient with Evans syndrome. ( 28841841 )
2017
36
Early-onset Evans Syndrome in a 4-Month-Old Infant: A Case Report and Review of Literature. ( 30787781 )
2017
37
Early-onset Evans Syndrome in a 4-month-old Infant: A Case Report and Review Of Literature. ( 30787805 )
2017
38
Evans syndrome with non-ST segment elevation myocardial infarction complicated by hemopericardium. ( 27751316 )
2016
39
Unusual co-occurrence of Evans syndrome and pure red cell aplasia in elderly patient with prostate cancer. ( 27465154 )
2016
40
Mycophenolate mofetil for the treatment of children with immune thrombocytopenia and Evans syndrome. A retrospective data review from the Italian association of paediatric haematology/oncology. ( 27447678 )
2016
41
Celiac disease with Evans syndrome and isolated immune thrombocytopenia in monozygotic twins: a rare association. ( 27312169 )
2016
42
Evans syndrome after autologous peripheral blood stem cell transplantation for recurrent Hodgkin lymphoma. ( 27577012 )
2016
43
Treatment of refractory ITP and Evans syndrome by haematopoietic cell transplantation: is it indicated, and for whom? ( 26178735 )
2016
44
How I manage Evans Syndrome and AIHA cases in children. ( 26625877 )
2016
45
Evans syndrome and its link with systemic lupus erythematosus. ( 26787583 )
2016
46
Evans Syndrome Secondary to Common Variable Immune Deficiency. ( 26950085 )
2016
47
Evans syndrome secondary to chronic lymphocytic leukaemia: presentation, treatment, and outcome. ( 27001309 )
2016
48
Evans Syndrome at Childhood-Onset Systemic Lupus Erythematosus Diagnosis: A Large Multicenter Study. ( 27018636 )
2016
49
Clinical Features of Systemic Lupus Erythematosus Patients Complicated With Evans Syndrome: A Case-Control, Single Center Study. ( 27082565 )
2016
50
Trans-catheter aortic valve-in-valve implantation in an elderly patient with Evans syndrome. ( 30546630 )
2016

Variations for Evans' Syndrome

Expression for Evans' Syndrome

Search GEO for disease gene expression data for Evans' Syndrome.

Pathways for Evans' Syndrome

GO Terms for Evans' Syndrome

Biological processes related to Evans' Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 8.92 ADAMTS13 HP RHBDF2 TPP2

Molecular functions related to Evans' Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.13 ADAMTS13 RHBDF2 TPP2
2 serine-type endopeptidase activity GO:0004252 8.8 HP RHBDF2 TPP2

Sources for Evans' Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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