MCID: EVN001
MIFTS: 48

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 53 59 55 44 73
Autoimmune Hemolytic Anemia and Autoimmune Thrombocytopenia 53 59
Immune Pancytopenia 59
Evan's Syndrome 76
Evan Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
evans syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult,Childhood;

Classifications:



Summaries for Evans' Syndrome

NIH Rare Diseases : 53 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 hemolytic-uremic syndrome and spastic paraplegia and evans syndrome. An important gene associated with Evans' Syndrome is TPP2 (Tripeptidyl Peptidase 2). The drugs Everolimus and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include bone, t cells and liver, and related phenotypes are muscle weakness and fatigue

Wikipedia : 76 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 131)
# Related Disease Score Top Affiliating Genes
1 hemolytic-uremic syndrome 29.4 ADAMTS13 HP
2 spastic paraplegia and evans syndrome 12.1
3 tylosis with esophageal cancer 11.9
4 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome 11.4
5 papillon-lefevre syndrome 11.0
6 thrombocytopenia 10.3
7 lupus erythematosus 10.3
8 systemic lupus erythematosus 10.3
9 hemolytic anemia 10.3
10 pancytopenia 10.2
11 hepatitis 10.2
12 purpura 10.2
13 lymphoma 10.2
14 anemia, autoimmune hemolytic 10.1
15 common variable immunodeficiency 10.1
16 autoimmune hepatitis 10.0
17 thrombosis 10.0
18 dermatomyositis 10.0
19 thrombocytopenia due to platelet alloimmunization 10.0
20 cataract 31, multiple types 10.0 HP TGFB1
21 thrombotic thrombocytopenic purpura, congenital 10.0 ADAMTS13 HP
22 thrombophilia due to thrombin defect 10.0
23 autoimmune lymphoproliferative syndrome 10.0
24 leukemia 10.0
25 lymphoproliferative syndrome 10.0
26 lymphocytic leukemia 10.0
27 graves' disease 10.0
28 pure red-cell aplasia 10.0
29 thyroiditis 10.0
30 autoimmune disease of blood 9.9 ADAMTS13 HP
31 bilirubin metabolic disorder 9.9 ADAMTS13 HP
32 nephrosclerosis 9.9 ADAMTS13 TGFB1
33 leukemia, chronic lymphocytic 2 9.9
34 biliary cirrhosis, primary, 1 9.9
35 leukemia, chronic lymphocytic 9.9
36 retinal detachment 9.9
37 thrombocytopenic purpura, autoimmune 9.9
38 digeorge syndrome 9.9
39 celiac disease 1 9.9
40 myelofibrosis 9.9
41 myeloma, multiple 9.9
42 langerhans cell histiocytosis 9.9
43 myocardial infarction 9.9
44 deficiency anemia 9.9
45 b-cell lymphomas 9.9
46 hepatitis b 9.9
47 primary biliary cirrhosis 9.9
48 immunoglobulin alpha deficiency 9.9
49 disseminated intravascular coagulation 9.9
50 nocardiosis 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:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
2 fatigue 59 32 frequent (33%) Frequent (79-30%) HP:0012378
3 dyspnea 59 32 frequent (33%) Frequent (79-30%) HP:0002094
4 pallor 59 32 frequent (33%) Frequent (79-30%) HP:0000980
5 jaundice 59 32 frequent (33%) Frequent (79-30%) HP:0000952
6 epistaxis 59 32 frequent (33%) Frequent (79-30%) HP:0000421
7 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
8 petechiae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000967
9 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
10 syncope 59 32 occasional (7.5%) Occasional (29-5%) HP:0001279
11 autoimmune hemolytic anemia 59 32 obligate (100%) Obligate (100%) HP:0001890
12 autoimmune thrombocytopenia 59 32 obligate (100%) Obligate (100%) HP:0001973
13 autoimmune neutropenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001904

GenomeRNAi Phenotypes related to Evans' Syndrome according to GeneCards Suite gene sharing:

26 (show all 32)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.05 MYB
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.05 TGFB1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.05 ADAMTS13 MYB TGFB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.05 MYB
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.05 MYB
6 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.05 ADAMTS13
7 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.05 ADAMTS13
8 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.05 ADAMTS13
9 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.05 TGFB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-143 10.05 TGFB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.05 AANAT
12 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.05 MYB
13 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.05 ADAMTS13
14 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.05 AANAT
15 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.05 MYB
16 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.05 MYB
17 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.05 AANAT
18 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.05 MYB TGFB1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.05 MYB
20 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.05 ADAMTS13 TGFB1 AANAT
21 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.05 AANAT
22 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.05 AANAT
23 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.05 TGFB1
24 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.05 AANAT
25 Increased shRNA abundance (Z-score > 2) GR00366-A-205 10.05 AANAT
26 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.05 AANAT
27 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.05 TGFB1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-36 10.05 ADAMTS13
29 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.05 TGFB1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.05 MYB
31 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.05 MYB
32 Increased shRNA abundance (Z-score > 2) GR00366-A-97 10.05 ADAMTS13

MGI Mouse Phenotypes related to Evans' Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.55 AANAT MYB RHBDF2 TGFB1 TPP2
2 hematopoietic system MP:0005397 9.5 ADAMTS13 HP LRBA MYB RHBDF2 TGFB1
3 immune system MP:0005387 9.17 ADAMTS13 HP LRBA MYB RHBDF2 TGFB1

Drugs & Therapeutics for Evans' Syndrome

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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sirolimus for Autoimmune Disease of Blood Cells Active, not recruiting NCT00392951 Phase 1, Phase 2 sirolimus
2 Treatment of Autoimmune Thrombocytopenia (AITP) Completed NCT00001630 Phase 1
3 Severe Immune Cytopenia Registry Www.Sic-reg.Org Recruiting NCT03576742
4 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:

41
Bone, T Cells, Liver, Thyroid, B Cells, Bone Marrow, Colon

Publications for Evans' Syndrome

Articles related to Evans' Syndrome:

(show top 50) (show all 255)
# Title Authors Year
1
Relapsing Evans syndrome and systemic lupus erythematosus with antiphospholipid syndrome treated with Bortezomib in combination with plasma exchange. ( 30543928 )
2018
2
miR-150 regulates B lymphocyte in autoimmune hemolytic anemia/Evans syndrome by c-Myb. ( 29488168 )
2018
3
Parvovirus B19-triggered Acute Hemolytic Anemia and Thrombocytopenia in a Child with Evans Syndrome. ( 29531655 )
2018
4
Evans syndrome secondary to undiagnosed chronic lymphocytic leukemia in a patient with unexplained bleeding. ( 29341268 )
2018
5
Scrotal Pyoderma Gangrenosum Associated with Evans Syndrome. ( 30131462 )
2018
6
Anesthetic management of laparoscopic splenectomy in a case of Evans Syndrome with systemic lupus erythematosis. ( 30104849 )
2018
7
Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations. ( 29330115 )
2018
8
Evans Syndrome After Successful Immunosuppressant-Free Living-Donor Liver Transplant. ( 29911962 )
2018
9
Plasma Exchanges for Refractory Evans Syndrome. ( 29998628 )
2018
10
A survey study with assessment of esophageal screening and genetic counseling in patients with Howel-Evans syndrome. ( 30142717 )
2018
11
Successful Treatment of an Adolescent Male With Severe Refractory Evans Syndrome Using Bortezomib-based Therapy. ( 30299351 )
2018
12
Evans syndrome: clinical perspectives, biological insights and treatment modalities. ( 30349415 )
2018
13
A rare case of Evans syndrome associated with sudden loss of vision: A case report. ( 30394803 )
2018
14
Steroid-resistant autoimmune myelofibrosis in a patient with autoimmune hepatitis and Evans syndrome complicated with increased expression of TGF-I^ in the bone marrow: a case report. ( 28584963 )
2017
15
Persistent Fever in Medical Intensive Care Unit: Evans Syndrome Versus Actinomycotic Osteomyelitis? ( 28092284 )
2017
16
Association of autoimmune hepatitis type 1 in a child with Evans syndrome. ( 28878866 )
2017
17
Edematous Dermatomyositis with Probable Evans Syndrome. ( 28407870 )
2017
18
Endogenous mycotic endophthalmitis in a dog with candiduria and Evans syndrome. ( 26938883 )
2017
19
Sirolimus as an Effective Agent in the Treatment of Immune Thrombocytopenia (ITP) and Evans Syndrome (ES): A Single Institution's Experience. ( 28267088 )
2017
20
Paraneoplastic Evans syndrome in a patient with adenocarcinoma of the lung: A case report. ( 28055149 )
2017
21
Disseminated tuberculosis with Evans syndrome: an uncommon presentation. ( 28118797 )
2017
22
Natural History, Pathogenesis, and Treatment of Evans Syndrome in Children. ( 28654461 )
2017
23
Diagnostic dilemma: ALPS versus Evans syndrome. ( 28802957 )
2017
24
Isolated non-traumatic, non-aneurysmal convexal subarachnoid hemorrhage in a patient with Evans syndrome. ( 28841841 )
2017
25
Evans Syndrome as First Manifestation of Primary Immunodeficiency in Clinical Practice. ( 28937520 )
2017
26
Evans Syndrome Complicated by Intratubular Hemoglobin Cast Nephropathy. ( 29163997 )
2017
27
Evans Syndrome Secondary to Common Variable Immune Deficiency. ( 26950085 )
2016
28
Evans syndrome after autologous peripheral blood stem cell transplantation for recurrent Hodgkin lymphoma. ( 27577012 )
2016
29
Evans syndrome with non-ST segment elevation myocardial infarction complicated by hemopericardium. ( 27751316 )
2016
30
Unusual co-occurrence of Evans syndrome and pure red cell aplasia in elderly patient with prostate cancer. ( 27465154 )
2016
31
Celiac disease with Evans syndrome and isolated immune thrombocytopenia in monozygotic twins: a rare association. ( 27312169 )
2016
32
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
33
Treatment of refractory ITP and Evans syndrome by haematopoietic cell transplantation: is it indicated, and for whom? ( 26178735 )
2016
34
How I manage Evans Syndrome and AIHA cases in children. ( 26625877 )
2016
35
Evans syndrome and its link with systemic lupus erythematosus. ( 26787583 )
2016
36
Evans syndrome secondary to chronic lymphocytic leukaemia: presentation, treatment, and outcome. ( 27001309 )
2016
37
Evans Syndrome at Childhood-Onset Systemic Lupus Erythematosus Diagnosis: A Large Multicenter Study. ( 27018636 )
2016
38
Clinical Features of Systemic Lupus Erythematosus Patients Complicated With Evans Syndrome: A Case-Control, Single Center Study. ( 27082565 )
2016
39
Trans-catheter aortic valve-in-valve implantation in an elderly patient with Evans syndrome. ( 30546630 )
2016
40
Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency. ( 25414442 )
2015
41
Disseminated intravascular coagulation and immune hemolytic anemia, possibly evans syndrome, after oxaliplatin and bevacizumab infusion for metastatic colon adenocarcinoma: a case report and literature review. ( 25600448 )
2015
42
Successful treatment with rituximab and romiplostim for thrombocytopenia associated with WaldenstrAPm's macroglobulinemia initially presenting as Evans syndrome. ( 25876786 )
2015
43
A Case of a TSH-secreting Pituitary Adenoma Associated with Evans' Syndrome. ( 26150183 )
2015
44
Systemic granulomatosis after surgical injection of silicone oil for retinal detachment in a child affected by Fisher-Evans syndrome. ( 25720706 )
2015
45
Successful treatment of Evans syndrome with Tacrolimus. ( 25209619 )
2015
46
Therapeutic management of evans syndrome in a pregnancy with maternal systemic lupus erythematosus. ( 26125124 )
2015
47
Experience with Evans syndrome in an academic referral center. ( 26190425 )
2015
48
The positive therapeutic effect in a patient of Evans syndrome combined with acute myocardial infarction. ( 26309630 )
2015
49
Evans Syndrome in Children: Long-Term Outcome in a Prospective French National Observational Cohort. ( 26484337 )
2015
50
Profound autoimmune hemolysis and Evans syndrome in two asplenic patients with babesiosis. ( 25354478 )
2014

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 9.26 ADAMTS13 HP RHBDF2 TPP2
2 response to organic substance GO:0010033 9.16 HP TGFB1
3 positive regulation of collagen biosynthetic process GO:0032967 8.62 MYB TGFB1

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

# Name GO ID Score Top Affiliating Genes
1 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 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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