MCID: EVN001
MIFTS: 46

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 20 58 54 44 70
Autoimmune Hemolytic Anemia and Autoimmune Thrombocytopenia 20 58
Immune Pancytopenia 58
Evan's Syndrome 73
Evan Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
evans syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Europe); Age of onset: Adult,Childhood;

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:8931
ICD9CM 34 287.32
MeSH 44 C536380
NCIt 50 C61284
SNOMED-CT 67 75331009
ICD10 32 D69.41
ICD10 via Orphanet 33 D69.3
UMLS via Orphanet 71 C0272126
Orphanet 58 ORPHA1959
UMLS 70 C0272126

Summaries for Evans' Syndrome

GARD : 20 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 anemia. An important gene associated with Evans' Syndrome is TPP2 (Tripeptidyl Peptidase 2), and among its related pathways/superpathways are T cell receptor signaling pathway and NF-kappaB Signaling. The drugs Hormones and Cyclosporins have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and skin, and related phenotypes are autoimmune hemolytic anemia and autoimmune thrombocytopenia

Wikipedia : 73 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 494)
# Related Disease Score Top Affiliating Genes
1 autoimmune lymphoproliferative syndrome 31.5 LRBA IL10 CTLA4 CD4
2 hemolytic anemia 31.0 MYB LRBA IL10 HP ADAMTS13
3 anemia, autoimmune hemolytic 30.7 LRBA HP CTLA4 CD4 CCR6
4 lymphoproliferative syndrome 30.5 IL10 CTLA4 CCR6
5 purpura 30.4 THPO MPL IL10 ADAMTS13
6 dermatitis 30.0 IL10 CTLA4 CD4 CCR6
7 babesiosis 30.0 IL10 HP CD4
8 exanthem 30.0 IL10 CTLA4 CD4 CCR6
9 hashimoto thyroiditis 30.0 TGFB1 IL10 CTLA4 CCR6
10 thrombocytopenia due to platelet alloimmunization 29.9 THPO MPL IL10 CD4 CCR6
11 thrombocytopenia 29.9 THPO TGFB1 MPL IL10 HP CTLA4
12 immunoglobulin alpha deficiency 29.8 HP CD4 CCR6
13 genital herpes 29.8 IL10 CD4 CCR6
14 vitiligo-associated multiple autoimmune disease susceptibility 1 29.8 CTLA4 CD4 CCR6
15 celiac disease 1 29.7 IL10 HP CTLA4 CD4 CCR6
16 hepatitis a 29.7 IL10 CTLA4 CD4
17 pancytopenia 29.6 THPO MPL HP CD4
18 primary biliary cholangitis 29.6 MIR150 CTLA4 CD4 CCR6
19 cryptococcosis 29.6 IL10 CD4 CCR6
20 colitis 29.6 IL10 CTLA4 CD4 CCR6
21 herpes zoster 29.5 IL10 CD4 CCR6
22 idiopathic neutropenia 29.5 THPO TGFB1 IL10
23 immune deficiency disease 29.5 MIR150 MIR142 IL10 CTLA4 CD4 CCR6
24 thrombocytopenia 3 29.5 THPO MPL
25 paroxysmal nocturnal hemoglobinuria 29.5 THPO MPL HP
26 systemic scleroderma 29.4 TGFB1 MIR142 IL10 CD4 CCR6
27 liver cirrhosis 29.4 THPO TGFB1 IL10 HP ADAMTS13
28 t cell deficiency 29.4 LRBA CTLA4 CD4 CCR6
29 chickenpox 29.4 IL10 CTLA4 CD4 CCR6
30 crohn's disease 29.4 IL10 HP CTLA4 CD4 CCR6
31 myeloma, multiple 29.4 MIR142 IL10 CTLA4 CD4 CCR6
32 thrombocytopenic purpura, autoimmune 29.3 THPO MPL LRBA CD4 CCR6 ADAMTS13
33 thyroid gland disease 29.3 MIR142 CTLA4 CD4 CCR6
34 systemic lupus erythematosus 29.2 TGFB1 MIR150 MIR142 IL10 CTLA4 CD4
35 b cell deficiency 29.2 LRBA IL10 CTLA4 CD4 CCR6
36 portal hypertension 29.1 THPO TGFB1 CD4 ADAMTS13
37 nervous system disease 29.0 MIR150 MIR142 IL10 CD4 CCR6
38 connective tissue disease 28.9 MIR150 MIR142 IL10 CD4 CCR6 ADAMTS13
39 deficiency anemia 28.9 THPO MYB MPL HP CD4 CCR6
40 multiple sclerosis 28.9 MIR142 IL10 CTLA4 CD4 CCR6
41 aplastic anemia 28.7 THPO TGFB1 MPL IL10 CTLA4 CD4
42 leukemia, chronic lymphocytic 28.2 THPO MYB MIR150 MIR142 IL10 CTLA4
43 primary thrombocytopenia 28.0 THPO MPL LRBA IL10 HP CD4
44 leukemia, acute lymphoblastic 27.9 THPO MYB MPL MIR142 CTLA4 CD4
45 tylosis with esophageal cancer 11.5
46 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome 11.1
47 spastic paraplegia and evans syndrome 11.0
48 papillon-lefevre syndrome 11.0
49 autoimmune disease 10.4
50 lupus erythematosus 10.4

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:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 autoimmune hemolytic anemia 58 31 obligate (100%) Obligate (100%) HP:0001890
2 autoimmune thrombocytopenia 58 31 obligate (100%) Obligate (100%) HP:0001973
3 petechiae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000967
4 neutropenia in presence of anti-neutropil antibodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0001904
5 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
6 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
7 pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000980
8 jaundice 58 31 frequent (33%) Frequent (79-30%) HP:0000952
9 dyspnea 58 31 frequent (33%) Frequent (79-30%) HP:0002094
10 epistaxis 58 31 frequent (33%) Frequent (79-30%) HP:0000421
11 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
12 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
13 syncope 58 31 occasional (7.5%) Occasional (29-5%) HP:0001279

MGI Mouse Phenotypes related to Evans' Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 ADAMTS13 CCR6 CD4 CTLA4 HP IL10
2 homeostasis/metabolism MP:0005376 9.7 ADAMTS13 CCR6 CD4 CTLA4 HP IL10
3 immune system MP:0005387 9.44 ADAMTS13 CCR6 CD4 CTLA4 HP IL10

Drugs & Therapeutics for Evans' Syndrome

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones
2 Cyclosporins

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Umbilical Cord Blood Treatment for Refractory Immune Cytopenia: a Single-arm Prospective Study Recruiting NCT04420494
2 Autoimmune Cytopenia: Genetics and Pathophysiological Mechanism in Pediatric Evans Syndrome Not yet recruiting NCT03912129

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:

40
Bone Marrow, Bone, Skin, Lung, Myeloid, Colon, Thymus

Publications for Evans' Syndrome

Articles related to Evans' Syndrome:

(show top 50) (show all 570)
# Title Authors PMID Year
1
von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP. 54 61
12393505 2003
2
Hematologic autoimmune disorders in the course of COVID-19: a systematic review of reported cases. 61
33594951 2021
3
Evans syndrome and immune thrombocytopenia in two patients with COVID-19. 61
33634495 2021
4
Acute Kidney Injury Caused by Evans Syndrome with Systemic Lupus Erythematosus and Systemic Sclerosis. 61
33116016 2021
5
Massive intrasplenic arterial thrombosis in a patient with chronic ITP during the development of an Evans syndrome. 61
33714615 2021
6
Refractory autoimmune cytopenias in pediatric Evans syndrome with underlying systemic immune dysregulation. 61
33570766 2021
7
ADA2 deficiency (DADA2) associated with Evans Syndrome and a severe ADA2 genotype. 61
33493352 2021
8
A case of Evans syndrome secondary to COVID-19. 61
33263526 2021
9
Evans syndrome and infections: a dangerous cocktail to manage with caution. 61
33523800 2021
10
Long term follow-up of pediatric-onset Evans syndrome: broad immunopathological manifestations and high treatment burden. 61
33440924 2021
11
Autoimmune Hemolytic Anemia and Immune Thrombocytopenia: A Unique Presentation of Kawasaki Disease. 61
33728087 2021
12
The Immunomodulatory Effect and Clinical Efficacy of Daratumumab in a Patient With Cold Agglutinin Disease. 61
33732266 2021
13
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies. 61
32845957 2021
14
Autoimmune cytopenia in chronic lymphocytic leukemia: diagnosis and treatment. 61
33355861 2020
15
Tacrolimus is effective in relapsed/refractory autoimmune cytopenias: results of a single-center retrospective study. 61
33297889 2020
16
Bortezomib treatment of steroid-refractory Evans syndrome in children. 61
32969165 2020
17
The clinical characteristics of autoimmune haemolytic anaemia/Evans syndrome patients with clonal immunoglobulin/T cell receptor gene rearrangement. 61
32924630 2020
18
Evans' Syndrome: From Diagnosis to Treatment. 61
33260979 2020
19
Two Cases of Autoimmune Neutropenia Complicated with Other Lineages of Autoimmune Cytopenia, Successfully Treated with Prednisolone. 61
33162482 2020
20
Recurrent Evans Syndrome in a Patient With 22q11.2 Deletion Syndrome: An Uncommon Hematological Presentation. 61
33354454 2020
21
Autoimmune diseases associated with common variable immune deficiency. 61
33236426 2020
22
Infection risk in autoimmune hematological disorders with low-dose rituximab treatment. 61
32794271 2020
23
Diagnoses, Outcomes, and Chronicity Predictors of Patients with Secondary Immune Thrombocytopenia: Ten-Year Data from a Hematology Referral Center. 61
33084609 2020
24
Evans syndrome associated with antiphospholipid antibodies in a patient with SARS-COV-2 infection. 61
32864578 2020
25
Immune Thrombocytopenia Secondary to COVID-19: a Systematic Review. 61
32984764 2020
26
A Patient with CTLA-4 Haploinsufficiency with Multiple Autoimmune Presentations: A Case Report. 61
32996901 2020
27
Sirolimus is effective for primary relapsed/refractory autoimmune cytopenia: a multicenter study. 61
32771553 2020
28
A Rare Case of Evans Syndrome in a Patient With Ulcerative Colitis. 61
32864028 2020
29
Roles of immune responses in the pathogenesis of immunorelated pancytopenia. 61
32474938 2020
30
Evans syndrome in a female with erythrophagocytosis by monocytes in peripheral blood smear. 61
32383790 2020
31
Evans syndrome in a patient with COVID-19. 61
32420629 2020
32
Common variable immunodeficiency with granulomatous-lymphocytic interstitial lung disease and preceding neurological involvement: a case-report. 61
32736614 2020
33
Systemic Lupus Erythematosus, Evans Syndrome, and Neurofibromatosis: An Unusual Combination in Pediatric Patient. 61
31033790 2020
34
The co-occurrence of multiple sclerosis and Evans syndrome: A case report. 61
32874446 2020
35
Evans Syndrome After Successful Immunosuppressant-Free Living-Donor Liver Transplant. 61
29911962 2020
36
Successful cardiac surgery in a patient with Evans syndrome. 61
31860079 2020
37
Oxaliplatin-Induced Evans Syndrome: A Possible Dual Mechanism. 61
31883972 2020
38
Successful Treatment of an Adolescent Male With Severe Refractory Evans Syndrome Using Bortezomib-based Therapy. 61
30299351 2020
39
A rare case of Evans syndrome associated with sudden loss of vision: A case report. 61
30394803 2020
40
Double hit: Evans syndrome after malignant thymoma treatment and parvovirus B19 infection. 61
32193179 2020
41
Autoimmune cytopenias (AIC) following allogeneic haematopoietic stem cell transplant for acquired aplastic anaemia: a joint study of the Autoimmune Diseases and Severe Aplastic Anaemia Working Parties (ADWP/SAAWP) of the European Society for Blood and Marrow Transplantation (EBMT). 61
31554929 2020
42
A Rare Case of Simultaneous Evans Syndrome and Primary Antiphospholipid Syndrome. 61
32128291 2020
43
A Case of Evans Syndrome with Acute Hemolysis and Hemoglobin Cast Nephropathy. 61
32029698 2020
44
Fatal fulminant hemolysis-associated pulmonary embolism in mixed-type autoimmune hemolytic anemia: A case report. 61
32028408 2020
45
Rituximab Unveils Hypogammaglobulinemia and Immunodeficiency in Children with Autoimmune Cytopenia. 61
31377437 2020
46
Long-term remission rates after splenectomy in adults with Evans syndrome compared to immune thrombocytopenia: A single-center retrospective study. 61
31594025 2020
47
Are Patients With Autoimmune Cytopenias at Higher Risk of COVID-19 Pneumonia? The Experience of a Reference Center in Northern Italy and Review of the Literature. 61
33574816 2020
48
Evans Syndrome Associated with Pregnancy and COVID-19 Infection. 61
32850163 2020
49
Rare Features of Dermatomyositis in a Patient with Ovarian Cancer. 61
33585327 2020
50
Successful Treatment of Chidamide and Cyclosporine for Refractory/Relapsed Angioimmunoblastic T Cell Lymphoma With Evans Syndrome: A Case Report With Long-Term Follow-Up. 61
32984055 2020

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

Cellular components related to Evans' Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.5 THPO TGFB1 MIR150 MIR142 IL10 HP
2 cell surface GO:0009986 9.02 TGFB1 MPL CD4 CCR6 ADAMTS13

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

# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.46 TGFB1 MPL IL10 CD4
2 response to vitamin D GO:0033280 9.4 TGFB1 CD4
3 negative regulation of B cell proliferation GO:0030889 9.37 IL10 CTLA4
4 regulation of regulatory T cell differentiation GO:0045589 9.32 TGFB1 CTLA4
5 negative regulation of immune response GO:0050777 9.26 TGFB1 CTLA4
6 thrombopoietin-mediated signaling pathway GO:0038163 8.96 THPO MPL
7 negative regulation of T cell proliferation GO:0042130 8.8 TGFB1 IL10 CTLA4

Sources for Evans' Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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