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MCID: LYM033
MIFTS: 59

Lymphoproliferative Syndrome

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Lymphoproliferative Syndrome

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MalaCards integrated aliases for Lymphoproliferative Syndrome:

Name: Lymphoproliferative Syndrome 12 29 55 6 15
Lymphoproliferative Disorders 55 73
Lymphoproliferative Disorder 29 15

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0060704
UMLS 73 C0024314
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Summaries for Lymphoproliferative Syndrome

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Disease Ontology : 12 A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection.

MalaCards based summary : Lymphoproliferative Syndrome, also known as lymphoproliferative disorders, is related to lymphoproliferative syndrome, x-linked, 2 and autoimmune lymphoproliferative syndrome, type iii. An important gene associated with Lymphoproliferative Syndrome is SH2D1A (SH2 Domain Containing 1A), and among its related pathways/superpathways are Innate Immune System and Apoptotic Pathways in Synovial Fibroblasts. The drugs Mycophenolic acid and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and bone, and related phenotypes are hematopoietic system and cellular

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Related Diseases for Lymphoproliferative Syndrome

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Diseases in the Lymphoproliferative Syndrome family:

Autoimmune Lymphoproliferative Syndrome Autoimmune Lymphoproliferative Syndrome, Type Iia
Lymphoproliferative Syndrome 1 Lymphoproliferative Syndrome 2
Autoimmune Lymphoproliferative Syndrome, Type Iii Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency Autosomal Recessive Lymphoproliferative Disease

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

(show top 50) (show all 330)
# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome, x-linked, 2 34.1 SH2D1A XIAP
2 autoimmune lymphoproliferative syndrome, type iii 34.0 CASP10 FASLG PRKCD
3 lymphoproliferative syndrome 1 34.0 ITK SH2D1A
4 autoimmune lymphoproliferative syndrome, type v 33.8 CTLA4 FAS SH2D1A
5 lymphoproliferative syndrome, x-linked, 1 33.5 CD244 PTPN11 SH2D1A SLAMF1 XIAP
6 autoimmune lymphoproliferative syndrome 33.2 CASP10 CASP8 CTLA4 FAS FASLG IL2
7 autosomal recessive lymphoproliferative disease 31.8 CD27 ITK
8 lymphomatoid papulosis 30.4 FAS FASLG
9 type ii mixed cryoglobulinemia 30.1 FAS FASLG
10 adult t-cell leukemia 30.0 FAS IL2 XIAP
11 aplastic anemia 29.9 FAS FASLG IL2 NRAS PRF1 SH2D1A
12 leukemia, chronic lymphocytic 29.7 CASP8 CD27 FAS IL2 NRAS PTPN11
13 agammaglobulinemia, x-linked 29.6 IL2 ITK SH2D1A
14 graft-versus-host disease 29.6 FAS FASLG IL2
15 common variable immunodeficiency 29.6 CD27 CTLA4 FAS IL2 PRKCD SH2D1A
16 myeloma, multiple 29.5 CASP8 CD27 IL2 NRAS PTPN11 XIAP
17 hemophagocytic lymphohistiocytosis 29.1 CD244 CD27 CTLA4 FAS ITK PRF1
18 leukemia, acute myeloid 29.0 CASP8 IL2 NRAS PTPN11 XIAP
19 systemic lupus erythematosus 29.0 CTLA4 FAS FASLG IL2 LY9 SLAMF1
20 lymphoma, non-hodgkin, familial 28.8 CASP10 CASP8 CD27 FAS IL2 NRAS
21 autoimmune lymphoproliferative syndrome, type iia 12.6
22 lymphoproliferative syndrome 2 12.4
23 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency 12.3
24 methotrexate-associated lymphoproliferative disorders 12.3
25 chronic lymphoproliferative disorder of natural killer cells 12.1
26 post-transplant lymphoproliferative disease 11.9
27 caspase 8 deficiency 11.9
28 ras-associated autoimmune leukoproliferative disorder 11.9
29 chronic nk-cell lymphocytosis 11.4
30 lymphoid interstitial pneumonia 11.4
31 necrobiotic xanthogranuloma 11.4
32 igg4-related disease 11.3
33 lymphomatoid granulomatosis 11.3
34 waldenstrom macroglobulinemia 11.3
35 acquired angioedema 11.3
36 granulomatous slack skin disease 11.3
37 t-cell large granular lymphocyte leukemia 11.2
38 pityriasis lichenoides 11.2
39 dianzani autoimmune lymphoproliferative disease 11.2
40 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 11.0
41 castleman disease 11.0
42 virus associated hemophagocytic syndrome 11.0
43 lymphoid leukemia 10.9
44 acquired von willebrand syndrome 10.9
45 pityriasis lichenoides et varioliformis acuta 10.9
46 hepatitis c 10.5
47 rheumatoid arthritis 10.4
48 hepatitis c virus 10.4
49 b-cell lymphomas 10.4
50 lymphocytic leukemia 10.4

Graphical network of the top 20 diseases related to Lymphoproliferative Syndrome:



Diseases related to Lymphoproliferative Syndrome
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Symptoms & Phenotypes for Lymphoproliferative Syndrome

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MGI Mouse Phenotypes related to Lymphoproliferative Syndrome:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.33 CASP8 CD244 CD27 CTLA4 FAS FASLG
2 cellular MP:0005384 10.26 CASP8 CD27 FAS FASLG IL2 INPP5D
3 immune system MP:0005387 10.25 CASP8 CD244 CD27 CTLA4 FAS FASLG
4 cardiovascular system MP:0005385 10.24 CASP8 CTLA4 FAS FASLG IL2 INPP5D
5 endocrine/exocrine gland MP:0005379 10.21 CASP8 CTLA4 FAS FASLG IL2 INPP5D
6 homeostasis/metabolism MP:0005376 10.15 CASP8 CTLA4 FAS FASLG IL2 INPP5D
7 digestive/alimentary MP:0005381 10.06 CTLA4 FAS FASLG IL2 INPP5D NRAS
8 integument MP:0010771 9.91 CASP8 CTLA4 FAS FASLG INPP5D NRAS
9 liver/biliary system MP:0005370 9.81 CASP8 CTLA4 FAS FASLG IL2 NRAS
10 neoplasm MP:0002006 9.56 CASP8 FAS FASLG IL2 INPP5D NRAS
11 respiratory system MP:0005388 9.17 CASP8 CTLA4 FAS FASLG IL2 INPP5D
Sources

Drugs & Therapeutics for Lymphoproliferative Syndrome

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

(show top 50) (show all 94)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolic acid Approved Phase 4,Phase 3 24280-93-1 446541
2 Immunologic Factors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
3 Vaccines Phase 4
4 Anti-Infective Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
5 Antitubercular Agents Phase 4,Phase 3
6 Anti-Bacterial Agents Phase 4,Phase 3,Phase 1,Phase 2
7 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 1,Phase 2
8
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 1,Phase 2,Not Applicable 22916-47-8 4189
9
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
10
Methylprednisolone Approved, Vet_approved Phase 3,Not Applicable 83-43-2 6741
11
Prednisolone Approved, Vet_approved Phase 3,Not Applicable 50-24-8 5755
12 tannic acid Approved Phase 3
13
Prednisolone phosphate Approved, Vet_approved Phase 3,Not Applicable 302-25-0
14
Sirolimus Approved, Investigational Phase 3,Phase 1,Phase 2 53123-88-9 46835353 6436030 5284616
15
Everolimus Approved Phase 3,Phase 1,Phase 2 159351-69-6 6442177
16
Methylprednisolone hemisuccinate Approved Phase 3,Not Applicable 2921-57-5
17
Prednisolone hemisuccinate Experimental Phase 3,Not Applicable 2920-86-7
18 Calcineurin Inhibitors Phase 3,Not Applicable
19 Immunosuppressive Agents Phase 3,Phase 2,Phase 1,Not Applicable
20 Cyclosporins Phase 3,Not Applicable
21 Antirheumatic Agents Phase 3,Not Applicable
22 Antifungal Agents Phase 3,Phase 1,Phase 2,Not Applicable
23 Dermatologic Agents Phase 3,Not Applicable
24 Hormone Antagonists Phase 3,Not Applicable
25 Gastrointestinal Agents Phase 3,Not Applicable
26 Methylprednisolone acetate Phase 3,Not Applicable
27 Immunoglobulins Phase 3
28 Neuroprotective Agents Phase 3,Not Applicable
29 Prednisolone acetate Phase 3,Not Applicable
30 Peripheral Nervous System Agents Phase 3,Not Applicable
31 glucocorticoids Phase 3,Not Applicable
32 Antineoplastic Agents, Hormonal Phase 3,Not Applicable
33 Anti-Inflammatory Agents Phase 3,Not Applicable
34 Hormones Phase 3,Not Applicable
35 Protective Agents Phase 3,Not Applicable
36 Immunoglobulin G Phase 3
37 Autonomic Agents Phase 3,Not Applicable
38 Antibodies Phase 3
39 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Not Applicable
40 Antiemetics Phase 3,Not Applicable
41
Valproic Acid Approved, Investigational Phase 1, Phase 2 99-66-1 3121
42
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
43
Melphalan Approved Phase 2 148-82-3 4053 460612
44
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
45
alemtuzumab Approved, Investigational Phase 2 216503-57-0
46
Hydroxyurea Approved Phase 2 127-07-1 3657
47 Antimetabolites Phase 2,Not Applicable
48 Antimetabolites, Antineoplastic Phase 2,Not Applicable
49 Alkylating Agents Phase 2,Not Applicable
50 Antineoplastic Agents, Alkylating Phase 2,Not Applicable

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Low Grade Lymphoma Unknown status NCT01698866 Phase 4
2 A Study of the Impact of an Early Biopsy in Patients Treated With CellCept (Mycophenolate Mofetil) After Kidney Transplantation Completed NCT00817687 Phase 4 mycophenolate mofetil [CellCept];mycophenolate mofetil [CellCept]
3 Study Comparing Efficacy and Safety of Mycophenolate Mofetil (Cellcept) With Delayed Introduction of Sirolimus and Discontinuation of Cyclosporine, With Those of Mycophenolate Mofetil and Long Term Continuation of Cyclosporine in Renal Transplant Recipients Completed NCT02686619 Phase 3 Cyclosporine;Daclizumab;Mycophenoate Mofetil;Prednisolone;Sirolimus
4 Valproic Acid (Depakote[Registered Trademark]) to Treat Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00605657 Phase 1, Phase 2 Valproic Acid
5 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
6 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
7 Sirolimus for Autoimmune Disease of Blood Cells Active, not recruiting NCT00392951 Phase 1, Phase 2 sirolimus
8 Pyrimethamine and Sulfadoxine for Treatment of Autoimmune Lymphoproliferative Syndrome Completed NCT00013689 Phase 1 Fansidar (pyrimethamine and sulfadoxine)
9 Pyrimethamine to Treat Autoimmune Lymphoproliferative Syndrome Completed NCT00065390 Phase 1 Pyrimethamine
10 Pilot Study of Unrelated Donor Hematopoietic Stem Cell Transplantation in Patients With Life Threatening Hemophagocytic Disorders Unknown status NCT00006056 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;filgrastim;methotrexate
11 Fluorodeoxyglucose-Positron Emission Tomography (FDG-PET) to Evaluate Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-associated Lymphoma Completed NCT00068146
12 Prevalence of Genetic Mutations in Patients With Neuropathy Associated With Anti-Myelin-associated Glycoprotein (MAG) Antibodies Completed NCT03268161
13 Study of Autoimmune Lymphoproliferative Syndrome (ALPS) Recruiting NCT00001350
14 Ascertainment of Families for Genetic Studies of Familial Lymphoproliferative Disorders Recruiting NCT00582621
15 Comparative Autoantibody and Immunologic Cell Marker Study Enrolling by invitation NCT02422875
16 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 Not Applicable anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone
17 Fluorodeoxyglucose Imaging Studies to Detect Lymphoma Withdrawn NCT01672918

Search NIH Clinical Center for Lymphoproliferative Syndrome

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Genetic Tests for Lymphoproliferative Syndrome

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Genetic tests related to Lymphoproliferative Syndrome:

# Genetic test Affiliating Genes
1 Lymphoproliferative Syndrome 29
2 Lymphoproliferative Disorder 29
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Anatomical Context for Lymphoproliferative Syndrome

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MalaCards organs/tissues related to Lymphoproliferative Syndrome:

41
B Cells, T Cells, Bone, Bone Marrow, Liver, Kidney, Myeloid
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Publications for Lymphoproliferative Syndrome

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Articles related to Lymphoproliferative Syndrome:

(show top 50) (show all 1143)
# Title Authors Year
1
A Review of Primary Cutaneous CD30+ Lymphoproliferative Disorders. ( 30497669 )
2019
2
The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions. ( 29911256 )
2018
3
Possible Association of Multicentric Castleman's Disease with Autoimmune Lymphoproliferative Syndrome. ( 29682404 )
2018
4
Low-dose sirolimus in two cousins with autoimmune lymphoproliferative syndrome-associated infection. ( 29480551 )
2018
5
Gray platelet syndrome mimicking atypical autoimmune lymphoproliferative syndrome: the key is in the blood smear. ( 29903870 )
2018
6
Synergistic defects of novo FAS and homozygous UNC13D leading to autoimmune lymphoproliferative syndrome-like disease: A 10-year-old Chinese boy case report. ( 29864493 )
2018
7
Adaptive reprogramming of NK cells in X-linked lymphoproliferative syndrome. ( 29233820 )
2018
8
Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation. ( 29686686 )
2018
9
Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report. ( 29649976 )
2018
10
Methotrexate-associated lymphoproliferative disorders with angioimmunoblastic T-cell lymphoma-like features accompanied by gamma-heavy chain disease in a patient with rheumatoid arthritis. ( 29987858 )
2018
11
Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. ( 29271561 )
2018
12
EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency. ( 30386345 )
2018
13
Epstein-Barr Virus-Related Post-Transplantation Lymphoproliferative Disorders After Allogeneic Hematopoietic Stem Cell Transplantation. ( 29530767 )
2018
14
Human Herpesvirus 8 and Lymphoproliferative Disorders. ( 30416693 )
2018
15
Lymphoproliferative Disorders in Inflammatory Bowel Disease Patients: Is It the Drugs or the Disease. ( 29998162 )
2018
16
Utility of CD200 expression and CD20 antibody binding capacity in differentiating chronic lymphocytic leukemia from other chronic lymphoproliferative disorders. ( 29567884 )
2018
17
Modification of cellular and humoral immunity by somatically reverted T cells in X-linked lymphoproliferative syndrome type 1. ( 30342818 )
2018
18
Hematopoietic cell transplantation for asymptomatic X-linked lymphoproliferative syndrome type 1. ( 30459818 )
2018
19
NK-Cell Enteropathy and Similar Indolent Lymphoproliferative Disorders: A Case Series With Literature Review. ( 30212873 )
2018
20
Nodal Involvement by CD30+ Cutaneous Lymphoproliferative Disorders and Its Challenging Differentiation From Classical Hodgkin Lymphoma. ( 29257929 )
2018
21
Immunodeficiency-associated lymphoproliferative disorders: time for reappraisal? ( 30082493 )
2018
22
Retraction: Haploinsufficiency of the Hmga1 Gene Causes Cardiac Hypertrophy and Myelo-Lymphoproliferative Disorders in Mice. ( 30552126 )
2018
23
Methotrexate-induced lymphoproliferative disorders: regression matters. ( 29468914 )
2018
24
FDG PET/CT Findings of Polymorphic Posttransplant Lymphoproliferative Disorders in a Transplanted Kidney. ( 29485445 )
2018
25
SATB1 Defines a Subtype of Cutaneous CD30+ Lymphoproliferative Disorders Associated with a T-Helper 17 Cytokine Profile. ( 29510190 )
2018
26
Low 5-year cumulative incidence of post-transplant lymphoproliferative disorders after solid organ transplantation in Switzerland. ( 29518251 )
2018
27
Reexamining post-transplant lymphoproliferative disorders: Newly recognized and enigmatic types. ( 29615296 )
2018
28
Restoration of Decreased T Helper 1 and CD8+ T Cell Subsets Is Associated With Regression of Lymphoproliferative Disorders Developed During Methotrexate Treatment. ( 29670617 )
2018
29
Ethnic disparity in primary cutaneous CD30+ T-cell lymphoproliferative disorders: an analysis of 1496 cases from the US National Cancer Database. ( 29676444 )
2018
30
Ethnic disparity in primary cutaneous CD30+ T-cell lymphoproliferative disorders: an analysis of 1496 cases from the US National Cancer database. ( 29676455 )
2018
31
Droplet Digital PCR for Minimal Residual Disease Detection in Mature Lymphoproliferative Disorders. ( 29717447 )
2018
32
Cutaneous CD30-positive T-cell lymphoproliferative disorders-clinical and histopathologic features, differential diagnosis, and treatment. ( 29719017 )
2018
33
Management of post-transplant lymphoproliferative disorders. ( 29741774 )
2018
34
Maximising yield of peripheral blood flow cytometry for chronic lymphoproliferative disorders. ( 29790655 )
2018
35
The value of EBV DNA in early detection of post-transplant lymphoproliferative disorders among solid organ and hematopoietic stem cell transplant recipients. ( 29804164 )
2018
36
T-cell receptor-δ expression and γδ+ T-cell infiltrates in primary cutaneous γδ T-cell lymphoma and other cutaneous T-cell lymphoproliferative disorders. ( 29893430 )
2018
37
Characteristic Histological Findings of Asymptomatic EBV-associated Lymphoproliferative Disorders in Tonsils. ( 30012922 )
2018
38
Dermoscopy of Cutaneous Lymphoproliferative Disorders: Where Are We Now? ( 30032152 )
2018
39
HTLV-1 status should be recorded in cases of T cell lymphomas/lymphoproliferative disorders - cases of adult T cell leukaemia lymphoma masquerading as other T cell lymphomas/lymphoproliferative disorders could explain some apparent ethnic disparities. ( 30074238 )
2018
40
HTLV-1 status should be recorded in cases of T cell lymphomas/lymphoproliferative disorders - cases of adult T cell leukaemia lymphoma masquerading as other T cell lymphomas/lymphoproliferative disorders could explain some of the apparent ethnic disparities - response to Lo Bello and Naresh. ( 30074244 )
2018
41
Cutaneous Lymphoproliferative Disorders: What's New in the Revised 4th Edition of the World Health Organization (WHO) Classification of Lymphoid Neoplasms. ( 30199396 )
2018
42
Peripheral Nervous System Involvement in Lymphoproliferative Disorders. ( 30210750 )
2018
43
The Potential Role of a Soluble γ-Chain Cytokine Receptor as a Regulator of IL-7-Induced Lymphoproliferative Disorders. ( 30373315 )
2018
44
Invasive Fungal Infections in Patients with Chronic Lymphoproliferative Disorders in the Era of Target Drugs. ( 30416695 )
2018
45
CD30+ T-cell lymphoproliferative disorders. ( 30525751 )
2018
46
Stoma formation after lymphoproliferative disorders and immunosuppression therapy. ( 30525969 )
2018
47
Epstein-Barr viremia and post-transplant lymphoproliferative disorders in patients undergoing haploidentical stem cell transplantation with post-transplant cyclophosphamide. ( 30543769 )
2018
48
Characteristics of Lymphoproliferative Disorders with More Than One Aberrant Cell Population as Detected by 10-Color Flow Cytometry. ( 27438095 )
2018
49
EBV-induced lymphoproliferative disorders in rheumatic patients: A systematic review of the literature. ( 28196776 )
2018
50
Spectrum and immunophenotyping of 653 patients with B-cell chronic lymphoproliferative disorders in China: A single-centre analysis. ( 28752619 )
2018
Sources

Variations for Lymphoproliferative Syndrome

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ClinVar genetic disease variations for Lymphoproliferative Syndrome:

6 (show top 50) (show all 292)
# Gene Variation Type Significance SNP ID Assembly Location
1 XIAP NM_001167.3(XIAP): c.1268A> C (p.Gln423Pro) single nucleotide variant Benign rs5956583 GRCh37 Chromosome X, 123034511: 123034511
2 XIAP NM_001167.3(XIAP): c.1268A> C (p.Gln423Pro) single nucleotide variant Benign rs5956583 GRCh38 Chromosome X, 123900661: 123900661
3 ITK NM_005546.3(ITK): c.237G> A (p.Pro79=) single nucleotide variant Conflicting interpretations of pathogenicity rs201403794 GRCh37 Chromosome 5, 156635998: 156635998
4 ITK NM_005546.3(ITK): c.237G> A (p.Pro79=) single nucleotide variant Conflicting interpretations of pathogenicity rs201403794 GRCh38 Chromosome 5, 157208987: 157208987
5 ITK NM_005546.3(ITK): c.244-8G> A single nucleotide variant Uncertain significance rs199759038 GRCh37 Chromosome 5, 156638290: 156638290
6 ITK NM_005546.3(ITK): c.244-8G> A single nucleotide variant Uncertain significance rs199759038 GRCh38 Chromosome 5, 157211279: 157211279
7 ITK NM_005546.3(ITK): c.495+12C> T single nucleotide variant Uncertain significance rs376728021 GRCh37 Chromosome 5, 156644929: 156644929
8 ITK NM_005546.3(ITK): c.495+12C> T single nucleotide variant Uncertain significance rs376728021 GRCh38 Chromosome 5, 157217919: 157217919
9 ITK NM_005546.3(ITK): c.571G> A (p.Ala191Thr) single nucleotide variant Uncertain significance rs534229766 GRCh37 Chromosome 5, 156649948: 156649948
10 ITK NM_005546.3(ITK): c.571G> A (p.Ala191Thr) single nucleotide variant Uncertain significance rs534229766 GRCh38 Chromosome 5, 157222938: 157222938
11 ITK NM_005546.3(ITK): c.625_627delTGG (p.Trp209del) deletion Uncertain significance rs886060325 GRCh37 Chromosome 5, 156650002: 156650004
12 ITK NM_005546.3(ITK): c.625_627delTGG (p.Trp209del) deletion Uncertain significance rs886060325 GRCh38 Chromosome 5, 157222992: 157222994
13 ITK NM_005546.3(ITK): c.769-13C> T single nucleotide variant Benign/Likely benign rs56100638 GRCh37 Chromosome 5, 156665106: 156665106
14 ITK NM_005546.3(ITK): c.769-13C> T single nucleotide variant Benign/Likely benign rs56100638 GRCh38 Chromosome 5, 157238096: 157238096
15 ITK NM_005546.3(ITK): c.1060G> A (p.Gly354Arg) single nucleotide variant Uncertain significance rs886060327 GRCh37 Chromosome 5, 156668730: 156668730
16 ITK NM_005546.3(ITK): c.1060G> A (p.Gly354Arg) single nucleotide variant Uncertain significance rs886060327 GRCh38 Chromosome 5, 157241720: 157241720
17 ITK NM_005546.3(ITK): c.1060+12A> C single nucleotide variant Uncertain significance rs765303299 GRCh37 Chromosome 5, 156668742: 156668742
18 ITK NM_005546.3(ITK): c.1060+12A> C single nucleotide variant Uncertain significance rs765303299 GRCh38 Chromosome 5, 157241732: 157241732
19 ITK NM_005546.3(ITK): c.1119A> G (p.Gln373=) single nucleotide variant Uncertain significance rs189091977 GRCh37 Chromosome 5, 156670691: 156670691
20 ITK NM_005546.3(ITK): c.1119A> G (p.Gln373=) single nucleotide variant Uncertain significance rs189091977 GRCh38 Chromosome 5, 157243681: 157243681
21 ITK NM_005546.3(ITK): c.1276C> T (p.Leu426=) single nucleotide variant Uncertain significance rs145991142 GRCh38 Chromosome 5, 157244305: 157244305
22 ITK NM_005546.3(ITK): c.1276C> T (p.Leu426=) single nucleotide variant Uncertain significance rs145991142 GRCh37 Chromosome 5, 156671315: 156671315
23 ITK NM_005546.3(ITK): c.1741C> T (p.Arg581Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs34482255 GRCh38 Chromosome 5, 157248957: 157248957
24 ITK NM_005546.3(ITK): c.1741C> T (p.Arg581Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs34482255 GRCh37 Chromosome 5, 156675967: 156675967
25 ITK NM_005546.3(ITK): c.*140C> T single nucleotide variant Uncertain significance rs536343015 GRCh38 Chromosome 5, 157252818: 157252818
26 ITK NM_005546.3(ITK): c.*140C> T single nucleotide variant Uncertain significance rs536343015 GRCh37 Chromosome 5, 156679828: 156679828
27 ITK NM_005546.3(ITK): c.*804T> C single nucleotide variant Uncertain significance rs139794260 GRCh37 Chromosome 5, 156680492: 156680492
28 ITK NM_005546.3(ITK): c.*804T> C single nucleotide variant Uncertain significance rs139794260 GRCh38 Chromosome 5, 157253482: 157253482
29 ITK NM_005546.3(ITK): c.*997A> G single nucleotide variant Benign rs27988 GRCh37 Chromosome 5, 156680685: 156680685
30 ITK NM_005546.3(ITK): c.*997A> G single nucleotide variant Benign rs27988 GRCh38 Chromosome 5, 157253675: 157253675
31 ITK NM_005546.3(ITK): c.*1171G> C single nucleotide variant Uncertain significance rs886060331 GRCh37 Chromosome 5, 156680859: 156680859
32 ITK NM_005546.3(ITK): c.*1171G> C single nucleotide variant Uncertain significance rs886060331 GRCh38 Chromosome 5, 157253849: 157253849
33 ITK NM_005546.3(ITK): c.*1188A> G single nucleotide variant Likely benign rs17054397 GRCh37 Chromosome 5, 156680876: 156680876
34 ITK NM_005546.3(ITK): c.*1188A> G single nucleotide variant Likely benign rs17054397 GRCh38 Chromosome 5, 157253866: 157253866
35 ITK NM_005546.3(ITK): c.*1866C> T single nucleotide variant Uncertain significance rs111629533 GRCh37 Chromosome 5, 156681554: 156681554
36 ITK NM_005546.3(ITK): c.*1866C> T single nucleotide variant Uncertain significance rs111629533 GRCh38 Chromosome 5, 157254544: 157254544
37 ITK NM_005546.3(ITK): c.*1928G> A single nucleotide variant Uncertain significance rs886060334 GRCh37 Chromosome 5, 156681616: 156681616
38 ITK NM_005546.3(ITK): c.*1928G> A single nucleotide variant Uncertain significance rs886060334 GRCh38 Chromosome 5, 157254606: 157254606
39 ITK NM_005546.3(ITK): c.1039G> A (p.Val347Ile) single nucleotide variant Uncertain significance rs886060326 GRCh37 Chromosome 5, 156668709: 156668709
40 ITK NM_005546.3(ITK): c.1039G> A (p.Val347Ile) single nucleotide variant Uncertain significance rs886060326 GRCh38 Chromosome 5, 157241699: 157241699
41 ITK NM_005546.3(ITK): c.*153A> C single nucleotide variant Likely benign rs2229736 GRCh38 Chromosome 5, 157252831: 157252831
42 ITK NM_005546.3(ITK): c.-32C> A single nucleotide variant Likely benign rs148134638 GRCh37 Chromosome 5, 156607957: 156607957
43 ITK NM_005546.3(ITK): c.-32C> A single nucleotide variant Likely benign rs148134638 GRCh38 Chromosome 5, 157180946: 157180946
44 ITK NM_005546.3(ITK): c.139-6C> T single nucleotide variant Uncertain significance rs780173849 GRCh37 Chromosome 5, 156635894: 156635894
45 ITK NM_005546.3(ITK): c.139-6C> T single nucleotide variant Uncertain significance rs780173849 GRCh38 Chromosome 5, 157208883: 157208883
46 ITK NM_005546.3(ITK): c.496-4C> G single nucleotide variant Uncertain significance rs749411240 GRCh37 Chromosome 5, 156649869: 156649869
47 ITK NM_005546.3(ITK): c.496-4C> G single nucleotide variant Uncertain significance rs749411240 GRCh38 Chromosome 5, 157222859: 157222859
48 ITK NM_005546.3(ITK): c.578G> A (p.Arg193Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs17054374 GRCh37 Chromosome 5, 156649955: 156649955
49 ITK NM_005546.3(ITK): c.578G> A (p.Arg193Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs17054374 GRCh38 Chromosome 5, 157222945: 157222945
50 ITK NM_005546.3(ITK): c.769-10A> T single nucleotide variant Benign/Likely benign rs55646940 GRCh37 Chromosome 5, 156665109: 156665109
Sources

Expression for Lymphoproliferative Syndrome

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Search GEO for disease gene expression data for Lymphoproliferative Syndrome.
Sources

Pathways for Lymphoproliferative Syndrome

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Pathways related to Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 61)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 14 CASP10 CASP8 CD27 CTLA4 FASLG IL2
2
Apoptotic Pathways in Synovial Fibroblasts 64
Show member pathways
 13.86 CASP10 CASP8 FAS FASLG IL2 NRAS
3
PEDF Induced Signaling 64
Show member pathways
 13.66 CASP10 CASP8 CD27 FAS FASLG IL2
4
Akt Signaling 64
Show member pathways
 13.4 CD27 FAS FASLG IL2 ITK NRAS
5
Cytokine Signaling in Immune system 66
Show member pathways
 13.35 CD27 FASLG IL2 INPP5D NRAS PRKCD
6
PAK Pathway 64
Show member pathways
 13.18 CASP10 CASP8 CD27 FAS FASLG IL2
7
Toll-like Receptor Signaling Pathway 37 1
Show member pathways
 13 CASP8 FAS FASLG IL2 PRKCD XIAP
8
PI3K-Akt signaling pathway 37
Show member pathways
 12.97 CASP8 FAS FASLG IL2 NRAS
9
TNFR1 Pathway 64
Show member pathways
 12.94 CASP10 CASP8 FAS FASLG NRAS PRKCD
10
CCR5 Pathway in Macrophages 64
Show member pathways
 12.87 FAS FASLG ITK NRAS PRKCD
11
Pathways in cancer 37
12.82 CASP8 FAS FASLG IL2 NRAS XIAP
12
Allograft rejection 1 37
Show member pathways
 12.79 CASP8 CTLA4 FAS FASLG IL2 ITK
13
Development Angiotensin activation of ERK 22
Show member pathways
 12.77 CASP10 CASP8 CD27 FAS FASLG INPP5D
14
MAPK signaling pathway 37 1
12.75 CASP8 FAS FASLG NRAS PRKCD SH2D1A
15
Chks in Checkpoint Regulation 64
Show member pathways
 12.7 CASP10 CASP8 FAS FASLG XIAP
16
Development HGF signaling pathway 22
Show member pathways
 12.69 FAS FASLG NRAS PRKCD PTPN11 XIAP
17
4-1BB Pathway 64
Show member pathways
 12.67 CASP8 CD27 FAS FASLG NRAS PRKCD
18
Influenza A 37
Show member pathways
 12.67 CASP8 FAS FASLG IL2 PTPN11 SH2D1A
19
TRAF Pathway 64
Show member pathways
 12.61 CASP10 CASP8 CD27 FAS FASLG PRKCD
20
Immune response Fc epsilon RI pathway 22
Show member pathways
 12.56 INPP5D ITK NRAS PTPN11
21
Development EGFR signaling pathway 22
Show member pathways
 12.55 CASP10 CASP8 NRAS PRKCD XIAP
22
DREAM Repression and Dynorphin Expression 64
Show member pathways
 12.5 CASP10 CASP8 FAS FASLG PRF1
23
Apoptosis Modulation and Signaling 1
Show member pathways
 12.46 CASP10 CASP8 CD27 FAS FASLG NRAS
24
Apoptosis Pathway 72
Show member pathways
 12.44 CASP10 CASP8 IL2 NRAS PRKCD
25
Development FGFR signaling pathway 22
Show member pathways
 12.43 INPP5D NRAS PRKCD PTPN11
26
ICos-ICosL Pathway in T-Helper Cell 64
Show member pathways
 12.39 CTLA4 IL2 ITK PRKCD
27
JAK-STAT signaling pathway (KEGG) 37
Show member pathways
 12.38 IL2 NRAS PRKCD PTPN11
28
B cell receptor signaling pathway (KEGG) 37
Show member pathways
 12.38 INPP5D NRAS PRKCD PTPN11
29
NF-kappaB Signaling 4
12.32 CTLA4 FAS FASLG IL2 INPP5D ITK
30
TNF signaling (REACTOME) 1
Show member pathways
 12.31 CASP10 CASP8 FAS FASLG XIAP
31
Proteoglycans in cancer 37
12.29 FAS FASLG NRAS PTPN11
32
Dimerization of procaspase-8 66
Show member pathways
 12.26 CASP10 CASP8 FAS FASLG XIAP
33
G-protein signaling Ras family GTPases in kinase cascades (scheme) 22
Show member pathways
 12.25 NRAS PRKCD PTPN11 XIAP
34
Cell surface interactions at the vascular wall 66
Show member pathways
 12.24 CD244 INPP5D NRAS PTPN11
35
p53 Signaling 64
Show member pathways
 12.24 CASP10 CASP8 FAS FASLG
36
Necroptosis 37
Show member pathways
 12.21 CASP8 FAS FASLG XIAP
37
Apoptosis and Autophagy 4
12.2 CASP8 FAS FASLG PTPN11 XIAP
38
C-type lectin receptor signaling pathway 37
Show member pathways
 12.13 CASP8 IL2 NRAS PRKCD PTPN11
39
Apoptosis and survival Caspase cascade 22
Show member pathways
 12.11 CASP10 CASP8 FAS FASLG PRF1 XIAP
40
Immune response IFN gamma signaling pathway 22
Show member pathways
 12.08 IL2 NRAS PRKCD PTPN11 XIAP
41
Ceramide Pathway 64
Show member pathways
 12.04 CASP10 CASP8 NRAS PRKCD
42
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 65
12 CD244 IL2 LY9 SLAMF1
43
TNF signaling pathway 37
11.94 CASP10 CASP8 FAS
44
Immune response IL-2 activation and signaling pathway 22
Show member pathways
 11.93 IL2 INPP5D PTPN11
45
TCR signaling in naive CD4+ T cells 1
Show member pathways
 11.93 ITK PRF1 PTPN11
46
T cell receptor signaling pathway 37
Show member pathways
 11.91 CTLA4 FAS IL2 ITK NRAS PRKCD
47
Jak-Stat Signaling Pathway (sino) 67
11.9 IL2 NRAS PRKCD PTPN11
48
VEGF Pathway (Tocris) 61
Show member pathways
 11.79 CASP10 CASP8 NRAS PRKCD
49
Calcineurin-regulated NFAT-dependent transcription in lymphocytes 1
Show member pathways
 11.76 CTLA4 FASLG IL2
50
Dendritic Cells Developmental Lineage Pathway 65
11.75 CD244 IL2 SLAMF1
Sources

GO Terms for Lymphoproliferative Syndrome

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Cellular components related to Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.72 CD27 FAS FASLG LY9 SLAMF1
2 external side of plasma membrane GO:0009897 9.67 CD244 CD27 CTLA4 FASLG
3 membrane raft GO:0045121 9.56 CASP8 FAS FASLG INPP5D
4 death-inducing signaling complex GO:0031264 9.16 CASP8 FAS
5 ripoptosome GO:0097342 8.96 CASP10 CASP8
6 CD95 death-inducing signaling complex GO:0031265 8.8 CASP10 CASP8 FAS

Biological processes related to Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.91 CD244 CTLA4 FAS FASLG IL2
2 positive regulation of apoptotic process GO:0043065 9.9 CTLA4 FAS FASLG INPP5D
3 immune system process GO:0002376 9.87 CD244 CTLA4 IL2 ITK LY9 SH2D1A
4 cytokine-mediated signaling pathway GO:0019221 9.86 FASLG IL2 INPP5D PTPN11
5 response to ethanol GO:0045471 9.77 CASP8 CD27 IL2
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.73 CASP10 CASP8 FAS FASLG
7 cellular response to mechanical stimulus GO:0071260 9.7 CASP8 FAS PTPN11
8 cellular defense response GO:0006968 9.67 ITK PRF1 SH2D1A
9 apoptotic signaling pathway GO:0097190 9.67 CASP10 CASP8 FAS FASLG
10 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.63 CASP8 FAS FASLG
11 adaptive immune response GO:0002250 9.63 CD244 CTLA4 IL2 ITK SH2D1A SLAMF1
12 positive regulation of T cell differentiation GO:0045582 9.61 CD27 IL2
13 negative regulation of B cell proliferation GO:0030889 9.58 CTLA4 INPP5D
14 regulation of regulatory T cell differentiation GO:0045589 9.58 CTLA4 IL2
15 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.58 CASP8 FAS FASLG
16 negative regulation of immune response GO:0050777 9.57 CTLA4 INPP5D
17 positive regulation of interleukin-17 production GO:0032740 9.55 IL2 LY9
18 positive regulation of B cell differentiation GO:0045579 9.54 CD27 INPP5D
19 necroptotic signaling pathway GO:0097527 9.48 FAS FASLG
20 immunoglobulin mediated immune response GO:0016064 9.43 CD27 INPP5D PRKCD
21 apoptotic process GO:0006915 9.28 CASP10 CASP8 CD27 FAS FASLG INPP5D
22 extrinsic apoptotic signaling pathway GO:0097191 9.26 CASP8 CD27 FAS FASLG

Molecular functions related to Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 CASP10 CASP8 CD244 CD27 CTLA4 FAS
2 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.37 CASP10 CASP8
3 death receptor binding GO:0005123 9.32 CASP8 FASLG
4 insulin receptor substrate binding GO:0043560 9.26 PRKCD PTPN11
5 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.16 CASP10 CASP8
6 death effector domain binding GO:0035877 8.96 CASP10 CASP8
Sources

Sources for Lymphoproliferative Syndrome

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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