MCID: LYM033
MIFTS: 59

Lymphoproliferative Syndrome

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Lymphoproliferative Syndrome

MalaCards integrated aliases for Lymphoproliferative Syndrome:

Name: Lymphoproliferative Syndrome 12 58 29 54 6 15
Lymphoproliferative Disorder 29 6 15
Lymphoproliferative Disorders 54 71

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060704
UMLS via Orphanet 72 C0024314
Orphanet 58 ORPHA238510
UMLS 71 C0024314

Summaries for Lymphoproliferative Syndrome

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 disorder, is related to autoimmune lymphoproliferative syndrome, type iii and lymphoproliferative syndrome, x-linked, 2. An important gene associated with Lymphoproliferative Syndrome is SH2D1A (SH2 Domain Containing 1A), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Mycophenolic acid and Azathioprine have been mentioned in the context of this disorder. Affiliated tissues include t cells, b cells and liver, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Lymphoproliferative Syndrome

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
Lymphoproliferative Syndrome 3

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

(show top 50) (show all 726)
# Related Disease Score Top Affiliating Genes
1 autoimmune lymphoproliferative syndrome, type iii 34.8 PRKCD CASP10
2 lymphoproliferative syndrome, x-linked, 2 34.7 XIAP SLAMF1 SH2D1A PRF1 ITK
3 lymphoproliferative syndrome 1 34.7 XIAP SH2D1A PRF1 ITK
4 lymphoproliferative syndrome 3 34.5 PRKCD CD70
5 lymphoproliferative syndrome 2 34.4 XIAP SLAMF1 SH2D1A ITK CD70 CD27
6 autoimmune lymphoproliferative syndrome 34.2 SH2D1A PRKCD PRF1 NRAS FASLG FAS
7 autoimmune lymphoproliferative syndrome, type v 34.2 SH2D1A CTLA4
8 caspase 8 deficiency 34.1 FASLG FAS FADD CASP8 CASP10
9 lymphoproliferative syndrome, x-linked, 1 33.4 XIAP SLAMF6 SLAMF1 SH2D1A PTPN11 PRF1
10 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia 31.6 SLAMF6 SH2D1A ITK
11 type ii mixed cryoglobulinemia 31.0 FASLG FAS
12 thrombocytopenia 30.8 PRF1 ITK FASLG FAS CTLA4 CASP10
13 hemophagocytic lymphohistiocytosis 30.8 XIAP SH2D1A PRF1 ITK FAS CTLA4
14 immune deficiency disease 30.8 XIAP SLAMF1 SH2D1A FASLG FAS CD27
15 pancytopenia 30.6 XIAP SH2D1A PRF1 ITK
16 lymphopenia 30.6 ITK FASLG FAS CTLA4
17 lymphoma 30.5 XIAP SH2D1A PTPN11 NRAS ITK FAS
18 aplastic anemia 30.4 SH2D1A PRF1 NRAS FASLG FAS CTLA4
19 adult t-cell leukemia 30.4 XIAP FAS CTLA4
20 common variable immunodeficiency 30.3 XIAP SH2D1A PRKCD FAS CTLA4 CD70
21 t-cell lymphoblastic leukemia/lymphoma 30.3 XIAP FASLG FAS CASP8
22 b cell deficiency 30.3 SH2D1A PRKCD CTLA4 CD27
23 pfeiffer syndrome 30.2 SLAMF6 SLAMF1 SH2D1A PTPN11 PRF1 CD27
24 chediak-higashi syndrome 30.2 SH2D1A PRF1 FASLG
25 renal cell carcinoma, nonpapillary 30.2 XIAP NRAS FASLG FAS CTLA4 CD70
26 lymphoma, non-hodgkin, familial 30.1 XIAP SH2D1A PRF1 NRAS FAS CTLA4
27 breast adenocarcinoma 30.1 XIAP FAS FADD CASP8
28 leukemia, chronic lymphocytic 30.1 XIAP PTPN11 NRAS ITK FAS CTLA4
29 post-transplant lymphoproliferative disease 30.1 FADD CASP8
30 hypersensitivity reaction type iv disease 30.1 FASLG FAS FADD CTLA4 CASP8 CASP10
31 myeloma, multiple 30.0 XIAP SLAMF1 PTPN11 PRF1 NRAS FASLG
32 acute promyelocytic leukemia 29.9 XIAP NRAS FAS CASP8 CASP10
33 myelodysplastic syndrome 29.8 XIAP PTPN11 PRF1 NRAS FASLG FAS
34 neuroblastoma 29.8 XIAP PTPN11 NRAS FASLG FAS CASP8
35 lupus erythematosus 29.7 SLAMF6 LY9 FASLG CTLA4
36 leukemia, acute myeloid 29.5 XIAP SLAMF1 PTPN11 PRF1 NRAS FASLG
37 dysgammaglobulinemia 29.4 XIAP SLAMF6 SLAMF1 SH2D1A LY9 CD244
38 systemic lupus erythematosus 29.0 SLAMF6 SLAMF1 LY9 FASLG FAS CTLA4
39 autoimmune lymphoproliferative syndrome, type iia 12.7
40 methotrexate-associated lymphoproliferative disorders 12.4
41 epstein-barr virus-associated malignant lymphoproliferative disorder 12.4
42 chronic lymphoproliferative disorder of natural killer cells 12.4
43 ras-associated autoimmune leukoproliferative disorder 12.3
44 systemic epstein-barr virus-positive t-cell lymphoma of childhood 11.8
45 dianzani autoimmune lymphoproliferative disease 11.7
46 necrobiotic xanthogranuloma 11.6
47 virus associated hemophagocytic syndrome 11.5
48 igg4-related disease 11.4
49 multicentric castleman disease 11.4
50 pityriasis lichenoides 11.4

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



Diseases related to Lymphoproliferative Syndrome

Symptoms & Phenotypes for Lymphoproliferative Syndrome

GenomeRNAi Phenotypes related to Lymphoproliferative Syndrome according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.91 CD70
2 Decreased viability GR00173-A 9.91 PRKCD
3 Decreased viability GR00221-A-1 9.91 NRAS PRKCD
4 Decreased viability GR00221-A-2 9.91 PRKCD
5 Decreased viability GR00221-A-3 9.91 NRAS
6 Decreased viability GR00221-A-4 9.91 ITK
7 Decreased viability GR00249-S 9.91 CASP10 ITK PRKCD
8 Decreased viability GR00301-A 9.91 INPP5D ITK
9 Decreased viability GR00381-A-1 9.91 INPP5D
10 Decreased viability GR00386-A-1 9.91 FASLG SH2D1A
11 Decreased viability GR00402-S-2 9.91 CD244 FASLG PRKCD
12 Reduced mammosphere formation GR00396-S 9.17 CD27 FADD FAS FASLG ITK NRAS

MGI Mouse Phenotypes related to Lymphoproliferative Syndrome:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.38 CASP8 CD244 CD27 CD70 CTLA4 FADD
2 immune system MP:0005387 10.3 CASP8 CD244 CD27 CD70 CTLA4 FADD
3 cellular MP:0005384 10.29 CASP8 CD27 FADD FAS FASLG INPP5D
4 cardiovascular system MP:0005385 10.24 CASP8 CTLA4 FADD FAS FASLG INPP5D
5 endocrine/exocrine gland MP:0005379 10.21 CASP8 CTLA4 FADD FAS FASLG INPP5D
6 homeostasis/metabolism MP:0005376 10.18 CASP8 CTLA4 FADD FAS FASLG INPP5D
7 digestive/alimentary MP:0005381 10.06 CTLA4 FADD FAS FASLG INPP5D NRAS
8 integument MP:0010771 9.91 CASP8 CTLA4 FAS FASLG INPP5D NRAS
9 liver/biliary system MP:0005370 9.81 CASP8 CTLA4 FADD FAS FASLG NRAS
10 neoplasm MP:0002006 9.5 CASP8 FAS FASLG INPP5D NRAS PRF1
11 normal MP:0002873 9.23 CTLA4 FAS FASLG NRAS PRF1 PTPN11

Drugs & Therapeutics for Lymphoproliferative Syndrome

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

(show top 50) (show all 249)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mycophenolic acid Approved Phase 4 24280-93-1 446541
2
Azathioprine Approved Phase 4 446-86-6 2265
3
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
7 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
8
Abatacept Approved Phase 4 332348-12-6 10237
9
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
10
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 27284 23925
11
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
12 Immunologic Factors Phase 4
13 Antirheumatic Agents Phase 4
14 Anti-Infective Agents Phase 4
15 Immunosuppressive Agents Phase 4
16 Hematinics Phase 4
17 Epoetin alfa Phase 4 113427-24-0
18 Antimetabolites Phase 4
19 Antitubercular Agents Phase 4
20 Anti-Bacterial Agents Phase 4
21 Antibiotics, Antitubercular Phase 4
22 Methylprednisolone Acetate Phase 4
23 Triamcinolone diacetate Phase 4
24 triamcinolone acetonide Phase 4
25 Triamcinolone hexacetonide Phase 4
26
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
27
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
28
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
29
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
30
Bortezomib Approved, Investigational Phase 3 179324-69-7 387447 93860
31
Methotrexate Approved Phase 2, Phase 3 59-05-2, 1959-05-2 126941
32
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
33
Lenograstim Approved, Investigational Phase 2, Phase 3 135968-09-1
34
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
35
Darbepoetin alfa Approved, Investigational Phase 3 11096-26-7, 209810-58-2
36
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 3 437-38-7 3345
37
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821
38
Amitriptyline Approved Phase 3 50-48-6 2160
39
Perphenazine Approved Phase 3 58-39-9 4748
40
Baclofen Approved Phase 3 1134-47-0 2284
41
Methoxsalen Approved Phase 3 298-81-7 4114
42
Pancrelipase Approved, Investigational Phase 3 53608-75-6
43
Blinatumomab Approved, Investigational Phase 3 853426-35-4
44
rituximab Approved Phase 3 174722-31-7 10201696
45
Melphalan Approved Phase 3 148-82-3 460612 4053
46
Etoposide Approved Phase 3 33419-42-0 36462
47
leucovorin Approved Phase 3 58-05-9 6006 143
48
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
49
Cytarabine Approved, Experimental, Investigational Phase 3 147-94-4, 65-46-3 6253
50
Methylcobalamin Approved, Investigational Phase 3 13422-55-4

Interventional clinical trials:

(show top 50) (show all 348)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Immune Response After Vaccination Against Hepatitis B in Patients With Indolent Lymphoproliferative Disorders With no Treatment. Unknown status NCT01698866 Phase 4
2 Tacrolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Unknown status NCT03540472 Phase 4 tacrolimus
3 Sirolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Unknown status NCT03364764 Phase 4 Sirolimus
4 Safety, Immunogenicity And Efficacy Of Vaccination In Military Personnel Completed NCT01807780 Phase 4
5 Quality of Life Related Response to Treatment in Anemic Cancer Patients Receiving Recormon and Efficacy of the Drug Dosage 30,000 IU Once Weekly in Patients With Lymphoproliferative Disorders Completed NCT00776425 Phase 4 Epoetin beta
6 A Single-arm Study of Brentuximab Vedotin in Patients With Relapsed or Refractory Hodgkin Lymphoma Who Are Not Suitable for Stem Cell Transplantation or Multiagent Chemotherapy Completed NCT01990534 Phase 4 Brentuximab vedotin
7 Fludarabine, Cyclophosphamide, Doxorubicin and Rituximab for the Treatment of Post-transplant Lymphoproliferative Disease (PTLD) Completed NCT01088724 Phase 4 fludarabine, cyclophosphamide, doxorubicin, rituximab
8 A Randomized, Prospective, Multicenter Trial to Compare the Effect on Chronic Allograft Nephropathy Prevention of Mycophenolate Mofetil Versus Azathioprine as the Sole Immunosuppressive Therapy for Kidney Transplant Recipients Completed NCT00494741 Phase 4 mycophenolate mofetil;azathioprine
9 A Multi-Center, Open-Labelled, Pralatrexate Study in Asian Patients With Peripheral T-cell Lymphoma After Prior Therapy Recruiting NCT03150602 Phase 4 Pralatrexate
10 Randomized Conversion Of Epstein-Barr Virus (EBV)+ Kidney Transplant Recipients Of Living Or Standard Criteria Donors At Three Months Post Transplantation To Belatacept With MPA Or Belatacept With Low-Dose Tacrolimus (50% Of Dose) Compared To Patients Remaining On Center Specific Standard Therapy Of Tacrolimus And MPA Recruiting NCT02213068 Phase 4 belatacept;Tacrolimus;MPA
11 Randomized, Placebo-controlled, Double Blind Study to Evaluate the Efficacy of 2LEBV® and 2LXFS® on Asthenia in Patients With an Epstein-Barr Virus Infection. Not yet recruiting NCT04308278 Phase 4 2LEBV® / 2LXFS®;Placebo
12 Randomised Controlled Open-label Study to Evaluate Efficacy & Safety of Intravenous Ferric Carboxymaltose Versus no Treatment in Anaemic Subjects With Multiple Myeloma & Iron Restricted Erythropoiesis Receiving Chemotherapy Terminated NCT01100879 Phase 4 Ferric carboxymaltose
13 Cytotoxic T Cell Therapy for Post Transplant Lymphoproliferative Disease: Randomized Controlled Trial in Transplant Recipients Unknown status NCT00033475 Phase 3
14 A Prospective Randomized Multicenter Study Comparing Different Dosages of Rabbit Antithymocyte Globulin (Thymoglobuline) in Patients With Severe Aplastic Anemia Unknown status NCT01844635 Phase 3 Thymoglobulin
15 Evaluation of Plasmatic Levels of Busulfan in Patients Undergoing Hematopoietic Stem Cell Transplantation Unknown status NCT01800643 Phase 2, Phase 3
16 A Randomized Double-Blind Controlled Trial of Ketamine Versus Placebo in Conjunction With Best Pain Management in Neuropathic Pain in Cancer Patients Unknown status NCT01316744 Phase 3 ketamine hydrochloride
17 Compared the Efficacy and Safety of CDOP Combined With Chidamide and CDOP in de Novo Peripheral T Cell Lymphoma Patients Unknown status NCT03023358 Phase 3 chidamide;cyclophosphamide;liposomal doxorubicin;vincristine;prednisone
18 Multi-Centre Prospective Randomized Study on the Use of Two Different Doses of Rabbit Anti-Thymocyte Globulin for GVHD Prevention in Paediatric Patients With Haematological Malignancies Given an Unrelated Donor Haematopoietic Stem Cell Transplantation Unknown status NCT00934557 Phase 3 ATG Fresenius;ATG Fresenius;ATG Fresenius;ATG Fresenius;ATG Fresenius;ATG Fresenius;ATG Fresenius;ATG Fresenius
19 A Phase III, Randomized Study Of Two Different Dosing Schedules Of Erythropoetin In Anemic Patients With Cancer Completed NCT00058331 Phase 3
20 A Double-Blind Study Of Nutritional Intervention For The Treatment Of Cancer Cachexia Using Juven® Nutritional Supplement Completed NCT00053053 Phase 3
21 A Randomized, Open-Label, Multicenter Study Of Darbepoetin Alfa Administered Once Every Two Weeks (Q2W) Compared With rHuEPO Administered Once Every Week (QW) For The Treatment Of Anemia In Subjects With Non-Myeloid Malignancies Receiving Multiple Chemotherapy Completed NCT00070382 Phase 3 darbepoetin alfa;epoetin alfa
22 A Phase III, Randomized Study of the Effects of Parenteral Iron, Oral Iron, or No Iron Supplementation on the Erythropoietic Response to Darbepoetin Alfa for Cancer Patients With Chemotherapy-Associated Anemia Completed NCT00661999 Phase 3 sodium ferric gluconate complex in sucrose
23 Preparatory Aid to Improve Decision Making About Cancer Clinical Trials (PRE-ACT) Completed NCT00750009 Phase 3
24 The Use of American Ginseng (Panax Quinquefolius) to Improve Cancer-Related Fatigue: A Randomized, Double-Blind, Placebo-Controlled Phase III Study Completed NCT00719563 Phase 3 American ginseng
25 Phase III Randomized Trial of an Opioid Titration Order Sheet Compared to Standard of Care in Patients With Cancer Related Pain. Completed NCT00666211 Phase 3
26 Randomized Trial Comparing the Efficacy of Chlorambucil to Fludarabine in Patients With Advanced Waldenström Macroglobulinemia,Lymphoplasmacytic Lymphoma or Splenic Marginal Zone Lymphoma Completed NCT00566332 Phase 3 Chlorambucil;Fludarabine
27 Phase 3 Study of Recombinant Erythropoetin and Adjuvant I.V. Iron Therapy of Anemic Patients With Lymphoproliferative Disorders Completed NCT00145652 Phase 3 Neo-Recormon and Venofer
28 Randomized Study for Comparison of Reduced Intensity Conditioning Protocols Containing Either Thymoglobuline or Alemtuzumab in Patients Undergoing Allogeneic Transplant From Voluntary Unrelated Donors Completed NCT00354120 Phase 2, Phase 3 Alentuzumab;Globulina antilinfocitaria
29 Predictive Value of the "Cytocapacity Test" Following a Single-dose of rHu-G-CSF in Patients With Lymphoproliferative Diseases and High-dose Therapy Completed NCT01085058 Phase 2, Phase 3 lenograstim
30 The Use of Topical Baclofen, Amitriptyline HCI, and Ketamine (BAK) in a PLO Gel vs. Placebo for the Treatment of Chemotherapy Induced Peripheral Neuropathy: A Phase III Randomized Double-Blind Placebo Controlled Study Completed NCT00516503 Phase 3 baclofen/amitriptyline/ketamine gel
31 Randomised Controlled Open-label Study to Evaluate Efficacy & Safety of Intravenous Ferric Carboxymaltose Versus no Treatment in Anaemic Subjects With Lymphoid Malignancies & Functional Iron Deficiency Receiving Chemotherapy Completed NCT01101399 Phase 3 Ferric carboxymaltose
32 An International, Multicenter, Randomized, Double-Blind Study of Vorinostat (MK0683) or Placebo in Combination With Bortezomib in Patients With Multiple Myeloma Completed NCT00773747 Phase 3 vorinostat;bortezomib;placebo to vorinostat
33 A Multi-center, Randomized Study on Oral 8-methoxypsoralen Plus UVA With or Without Maintenance Therapy in Mycosis Fungoides EORTC/ISCL Stage IA to IIB Completed NCT01686594 Phase 3 8-methoxypsoralen
34 The Unrelated Donor Marrow Transplantation Trial Completed NCT00003187 Phase 2, Phase 3 cyclophosphamide;cyclosporine;cytarabine;methotrexate;methylprednisolone
35 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
36 Phase III Multicenter Open-label Randomized Clinical Trial Comparing Everolimus and Low Dose Tacrolimus to Tacrolimus and Mycophenolate Mofetil at 6 mo Post-Transplant to Prevent Long-term Complications After Pediatric Heart Transplantation Recruiting NCT03386539 Phase 3 Everolimus;Tacrolimus;Mycophenolate Mofetil
37 Open-label Extension Study With Tadekinig Alfa (r-hIL-18BP) to Monitor Safety and Tolerability in Patients With IL-18 Driven Monogenic Autoinflammatory Conditions: NLRC4 Mutation and XIAP Deficiency Recruiting NCT03512314 Phase 3 Tadekinig alfa
38 Multicenter, Double-blind, Placebo-controlled, Randomized Withdrawal Trial With Tadekinig Alfa (r-hIL-18BP) in Patients With IL-18 Driven Monogenic Autoinflammatory Conditions: NLRC4 Mutation and XIAP Deficiency Recruiting NCT03113760 Phase 3 Tadekinig alfa
39 Multicenter, Open Label, Phase 3 Study of Tabelecleucel for Solid Organ or Allogeneic Hematopoietic Cell Transplant Subjects With Epstein-Barr Virus-Associated Post-Transplant Lymphoproliferative Disease After Failure of Rituximab or Rituximab and Chemotherapy Recruiting NCT03394365 Phase 3
40 Multicenter, Open-Label, Phase 3 Study of Tabelecleucel for Allogeneic Hematopoietic Cell Transplant Subjects With Epstein-Barr Virus-Associated Post-Transplant Lymphoproliferative Disease After Failure of Rituximab Recruiting NCT03392142 Phase 3
41 Phase 3 Trial to Investigate the Efficacy, Safety, and Tolerability of Blinatumomab as Consolidation Therapy Versus Conventional Consolidation Chemotherapy in Pediatric Subjects With HR First Relapse B-precursor ALL Active, not recruiting NCT02393859 Phase 3 Blinatumomab;Conventional Consolidation Chemotherapy
42 A Multi-center, Randomized, Phase 3 Study of Sequential Pralatrexate Versus Observation in Patients With Previously Undiagnosed Peripheral T-cell Lymphoma Who Have Achieved an Objective Response Following Initial Treatment With CHOP-based Chemotherapy Terminated NCT01420679 Phase 3 Pralatrexate Injection
43 In-vivo T-cell Depletion and Hematopoietic Stem Cell Transplantation for Life-Threatening Immune Deficiencies and Histiocytic Disorders Terminated NCT00176826 Phase 2, Phase 3 Myeloablative conditioning regimen
44 A Phase 3 Randomized,Open-Label Study of Ponatinib Versus Imatinib in Adult Patients With Newly Diagnosed Chronic Myeloid Leukemia in Chronic Phase Terminated NCT01650805 Phase 3 ponatinib;imatinib (Gleevec/ Glivec)
45 SPINOZA / שפינוזה. Study With Preparatory INduction Of Zevalin in Aggressive Lymphoma. A Randomized Phase 3 Study of BEAM Versus 90Yttrium Ibritumomab Tiuxetan (Zevalin) / BEAM in Patients Requiring ASCT for Relapsed DLBCL Terminated NCT02366663 Phase 3 Carmustine;Etoposide;Cytarabine;Melphalan
46 Phase II Trial of Rituximab in Patients With B-Cell Lymphoproliferative Disorders Associated With Pharmacologic Immunosuppression Unknown status NCT00003716 Phase 2
47 A Pilot Study to Assess the Feasibility of Unrelated Umbilical Cord Blood Transplantation With Coinfusion of Third-party Mesenchymal Stem Cells After Myeloablative or Nonmyeloablative Conditioning in Patients With Hematological Malignancies Unknown status NCT01092026 Phase 1, Phase 2
48 Phase II Study of Combination Bortezomib, Dexamethasone, and Rituximab in Previously Untreated Patients With Waldenstrom's Macroglobulinemia: A Multicenter Trial of the European Myeloma Network Unknown status NCT01046006 Phase 2 Bortezomib, Rituximab, Dexamethasone
49 A Pilot Study of the Combination of Retinoic Acid and Interferon-Alpha2a for the Treatment of Lymphoproliferative Disorders in Children With Immunodeficiency Syndromes Completed NCT00001438 Phase 2 all-trans-retinoic acid with IFN-alpha2a
50 A Phase I/II Study: Zevalin Radioimmunotherapy for Patients With Post Transplant Lymphoproliferative Disease Following Solid Organ Transplantation Completed NCT00064246 Phase 1, Phase 2

Search NIH Clinical Center for Lymphoproliferative Syndrome

Genetic Tests for Lymphoproliferative Syndrome

Genetic tests related to Lymphoproliferative Syndrome:

# Genetic test Affiliating Genes
1 Lymphoproliferative Disorder 29
2 Lymphoproliferative Syndrome 29

Anatomical Context for Lymphoproliferative Syndrome

MalaCards organs/tissues related to Lymphoproliferative Syndrome:

40
T Cells, B Cells, Liver, Kidney, Lung, Bone, Bone Marrow

Publications for Lymphoproliferative Syndrome

Articles related to Lymphoproliferative Syndrome:

(show top 50) (show all 5559)
# Title Authors PMID Year
1
Phenotypic differences between mice deficient in XIAP and SAP, two factors targeted in X-linked lymphoproliferative syndrome (XLP). 61 54
19595300 2009
2
SLAM receptors and SAP influence lymphocyte interactions, development and function. 61 54
19079134 2009
3
Primary Immunodeficiencies Inducing EBV-Associated Severe Illnesses. 61 54
17301392 2004
4
The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease. 54 61
14523387 2003
5
Specificity of antinuclear and antiphospholipid antibodies in sera of patients with autoimmune lymphoproliferative disease (ALD). 61 54
12846062 2003
6
Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways. 61 54
12655301 2003
7
Distinct interactions of the X-linked lymphoproliferative syndrome gene product SAP with cytoplasmic domains of members of the CD2 receptor family. 54 61
11414741 2001
8
CD150 association with either the SH2-containing inositol phosphatase or the SH2-containing protein tyrosine phosphatase is regulated by the adaptor protein SH2D1A. 54 61
11313386 2001
9
Patients with X-linked lymphoproliferative disease have a defect in 2B4 receptor-mediated NK cell cytotoxicity. 61 54
11093147 2000
10
Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. 54 61
10515860 1999
11
Clinical, immunological, and pathological consequences of Fas-deficient conditions. 61 54
8806292 1996
12
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. 61 54
7539157 1995
13
Causes of double-negative T-cell lymphocytosis in children and adults. 61
31810993 2020
14
A Case of Uveitis in a Patient With Juvenile Myelomonocytic Leukemia Successfully Treated With Adalimumab. 61
30807392 2020
15
Primary effusion lymphoma metachronous to multicentric Castleman disease in an immunocompetent patient. 61
32534717 2020
16
Gain-of-function mutations in CARD11 promote enhanced aggregation and idiosyncratic signalosome assembly. 61
32473470 2020
17
Atypical lymphoid hyperplasia in a patient undergoing tonsillectomy for severe obstructive sleep apnea. 61
32361254 2020
18
Primary Cutaneous CD4+ Small/Medium T-Cell Lymphoproliferative Disorders: A Clinical, Pathologic, and Molecular Study of 60 Cases Presenting With a Single Lesion: A Multicenter Study of the French Cutaneous Lymphoma Study Group. 61
32271188 2020
19
Biomarkers for PTLD diagnosis and therapies. 61
31240394 2020
20
Radiologic Differentiation of Primary CNS Posttransplant Lymphoproliferative Disorder From Brain Metastasis. 61
32348186 2020
21
Comparison of Clinical Features and Outcome of Pediatric Posttransplant Lymphoproliferative Disorder in Recipients of Small Bowel Allograft Versus Isolated Liver Transplantation. 61
31651718 2020
22
Retroperitoneal Castleman Disease Invading Iliac Vein and Inferior Vena Cava Treated by Tumorectomy with Vascular Repair: A Case Report. 61
31917225 2020
23
Urine antigen-negative disseminated histoplasmosis mimicking post-transplant lymphoproliferative disorder. 61
32532906 2020
24
Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease. 61
32514016 2020
25
Caspase-8-Dependent Inflammatory Responses Are Controlled by Its Adaptor, FADD, and Necroptosis. 61
32428502 2020
26
Epstein-Barr Virus-negative Marginal Zone Lymphoma as an Uncommon Form of Monomorphic Posttransplant Lymphoproliferative Disorder. 61
32554995 2020
27
Post Transplant Lymphoproliferative Disorder risk factors in children: Analysis of a 23-year single-institutional experience. 61
32497335 2020
28
Epstein-Barr viral load monitoring for diagnosing post-transplant lymphoproliferative disorder in pediatric liver transplant recipients. 61
32067332 2020
29
Dermoscopy of primary cutaneous CD4+ small/medium T-cell lymphoproliferative disorder. 61
32010958 2020
30
Diagnostic performances of F-18 FDG PET or PET/CT for detection of post-transplant lymphoproliferative disorder: a systematic review and meta-analysis. 61
32282633 2020
31
Hydroa Vacciniforme-like Lymphoproliferative Disorder Treated with Intravenous Immunoglobulin: Long-term Remission Without Haematopoietic Stem Cell Transplantation or Chemotherapy. 61
32516422 2020
32
Inflammatory pseudotumour-like follicular dendritic cell tumour of the colon with plasmacytosis mimicking EBV-positive lymphoproliferative disorder. 61
32327214 2020
33
Lymphomatoid Papulosis With a Unique T Follicular Helper-Like Phenotype. 61
32568843 2020
34
Methotrexate-associated Lymphoproliferative Disorder in the Liver Resembling Hepatocellular Carcinoma Treated with Transarterial Chemoembolization. 61
32522926 2020
35
Tonsillar Kaposi sarcoma in a renal transplant patient. 61
32495980 2020
36
Optic neuropathy due to chronic lymphocytic leukemia: The first manifestation of the disease. 61
32467860 2020
37
CD30 expression and survival in posttransplant lymphoproliferative disorders. 61
32102582 2020
38
Germline TET2 Loss-Of-Function Causes Childhood Immunodeficiency And Lymphoma. 61
32518946 2020
39
Primary cutaneous peripheral T-cell lymphoma, not otherwise specified, associated with lymphomatoid papulosis after a 9-year follow up: A case report. 61
32323371 2020
40
Living-donor single-lobe lung transplantation for pulmonary hypertension due to alveolar capillary dysplasia with misalignment of pulmonary veins. 61
31883304 2020
41
Epstein-Barr virus-associated lymphoproliferative disorder in a young child treated for Wilms tumor. 61
32511040 2020
42
Bibliometric Analysis of Pediatric Liver Transplantation Research in PubMed from 2014 to 2018. 61
32493895 2020
43
Nonchemotherapy Treatment of Immunoglobulin Light Chain Amyloidosis. 61
32526750 2020
44
Diffuse large B cell lymphoma involving Meckel's cave masquerading as biopsy-negative giant cell arteritis: a case report. 61
32386515 2020
45
Indolent EBV-positive T-cell lymphoproliferative disorder arising in a chronic pericardial hematoma: the T-cell counterpart of fibrin-associated diffuse large B-cell lymphoma? 61
32414846 2020
46
Whole genome copy number analysis in search of new prognostic biomarkers in first line treatment of mantle cell lymphoma. A study by the LYSA group. 61
32472610 2020
47
Long-term results of the MCL01 phase II trial of rituximab plus HyperCVAD alternating with high-dose cytarabine and methotrexate for the initial treatment of patients with mantle cell lymphoma. 61
32410259 2020
48
Calcineurin Inhibitors Replacement by Ruxolitinib as Graft-versus-Host Disease Prophylaxis for Patients after Allogeneic Stem Cell Transplantation. 61
31982545 2020
49
Intrasinusoidal HHV8-EBV-Positive Large B-Cell Lymphoma With Features of Germinotropic Lymphoproliferative Disorder. 61
32423260 2020
50
T-cell posttransplant lymphoproliferative disorders after allogeneic hematopoietic cell transplantation. 61
32472530 2020

Variations for Lymphoproliferative Syndrome

ClinVar genetic disease variations for Lymphoproliferative Syndrome:

6 (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PLAA NM_001031689.3(PLAA):c.1487-1G>ASNV Likely pathogenic 598964 rs1426488816 9:26913946-26913946 9:26913948-26913948
2 XIAP NM_001167.3(XIAP):c.*5180dupduplication Conflicting interpretations of pathogenicity 367846 rs60841987 X:123046198-123046199 X:123912348-123912349
3 XIAP NM_001167.3(XIAP):c.*2901T>CSNV Uncertain significance 367817 rs1057515751 X:123043932-123043932 X:123910082-123910082
4 ITK NM_005546.3(ITK):c.625_627delTGGshort repeat Uncertain significance 352465 rs757871566 5:156649999-156650001 5:157222989-157222991
5 ITK NM_005546.3(ITK):c.*1682G>TSNV Uncertain significance 352496 rs538864150 5:156681370-156681370 5:157254360-157254360
6 XIAP NM_001167.3(XIAP):c.*4307_*4309dupduplication Uncertain significance 367835 rs397713705 X:123045327-123045328 X:123911477-123911478
7 SH2D1A NM_002351.4(SH2D1A):c.*51_*52deldeletion Uncertain significance 367874 rs769919066 X:123505292-123505293 X:124371442-124371443
8 XIAP NM_001167.3(XIAP):c.*5047dupduplication Uncertain significance 367841 rs368295939 X:123046066-123046067 X:123912216-123912217
9 XIAP NM_001167.3(XIAP):c.*5070deldeletion Uncertain significance 367843 rs751242607 X:123046090-123046090 X:123912240-123912240
10 XIAP NM_001204401.1(XIAP):c.*6564_*6567CTGA[2]short repeat Likely benign 367865 rs28382756 X:123047595-123047598 X:123913745-123913748
11 SH2D1A NM_002351.4(SH2D1A):c.*1773G>ASNV Likely benign 369633 rs190741204 X:123507014-123507014 X:124373164-124373164
12 XIAP NM_001167.3(XIAP):c.*3040G>ASNV Likely benign 367819 rs187400208 X:123044071-123044071 X:123910221-123910221
13 XIAP NM_001167.3(XIAP):c.*5034_*5035insAAAinsertion Likely benign 367840 rs770819952 X:123046064-123046065 X:123912214-123912215
14 XIAP NM_001204401.1(XIAP):c.*1175_*1178ATTA[1]short repeat Likely benign 367803 rs747235601 X:123042205-123042208 X:123908355-123908358
15 XIAP NM_001167.3(XIAP):c.*3001T>ASNV Likely benign 367818 rs765082277 X:123044032-123044032 X:123910182-123910182
16 XIAP NM_001167.3(XIAP):c.*5068_*5069insTinsertion Benign 367844 rs58114044 X:123046099-123046100 X:123912249-123912250
17 XIAP NM_001167.3(XIAP):c.*2845C>TSNV Benign 367816 rs17330644 X:123043876-123043876 X:123910026-123910026
18 XIAP NM_001167.3(XIAP):c.*2296_*2300deldeletion Benign 367809 rs79291374 X:123043325-123043329 X:123909475-123909479
19 XIAP NM_001167.3(XIAP):c.*3702dupduplication Benign 367826 rs762141177 X:123044717-123044718 X:123910867-123910868
20 XIAP NM_001167.3(XIAP):c.*4309dupduplication Benign 367834 rs397713705 X:123045327-123045328 X:123911477-123911478
21 SH2D1A NM_002351.4(SH2D1A):c.*203deldeletion Benign 367875 rs67202578 X:123505440-123505440 X:124371590-124371590
22 XIAP NM_001167.3(XIAP):c.*5519deldeletion Benign 367852 rs374013599 X:123046537-123046537 X:123912687-123912687
23 XIAP NM_001167.3(XIAP):c.*5047deldeletion Benign 367842 rs368295939 X:123046067-123046067 X:123912217-123912217
24 XIAP NM_001167.3(XIAP):c.*5180deldeletion Benign 367847 rs60841987 X:123046199-123046199 X:123912349-123912349
25 XIAP NM_001167.3(XIAP):c.*5505deldeletion Benign 367851 rs111508332 X:123046536-123046536 X:123912686-123912686

Expression for Lymphoproliferative Syndrome

Search GEO for disease gene expression data for Lymphoproliferative Syndrome.

Pathways for Lymphoproliferative Syndrome

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

(show top 50) (show all 51)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.95 SLAMF6 SH2D1A PTPN11 PRKCD NRAS ITK
2
Show member pathways
13.81 PRKCD NRAS FASLG FAS FADD CD70
3
Show member pathways
13.43 SLAMF6 SH2D1A PTPN11 NRAS ITK INPP5D
4
Show member pathways
13.39 XIAP PRKCD NRAS ITK FASLG FAS
5
Show member pathways
13.34 PTPN11 PRKCD NRAS INPP5D FASLG CD70
6
Show member pathways
13.24 PTPN11 PRKCD NRAS FASLG FAS CD70
7
Show member pathways
13.05 XIAP PRKCD NRAS FASLG FAS FADD
8
Show member pathways
13.04 NRAS FASLG FAS FADD CASP8 CASP10
9
Show member pathways
12.9 NRAS FASLG FAS FADD CASP8
10
Show member pathways
12.86 PRF1 FASLG FAS FADD CTLA4 CASP8
11
Show member pathways
12.85 PRKCD NRAS ITK FASLG FAS
12 12.84 XIAP NRAS FASLG FAS FADD CASP8
13
Show member pathways
12.79 SLAMF1 FASLG FAS FADD CASP8
14 12.77 PTPN11 FASLG FAS FADD CASP8
15 12.77 SH2D1A PRKCD NRAS FASLG FAS CASP8
16
Show member pathways
12.77 XIAP PRKCD FASLG FAS FADD CASP8
17
Show member pathways
12.72 XIAP PTPN11 PRKCD NRAS FASLG FAS
18
Show member pathways
12.7 XIAP FASLG FAS FADD CASP8 CASP10
19
Show member pathways
12.64 PRKCD NRAS FASLG FAS CD70 CD27
20
Show member pathways
12.62 PRF1 NRAS FASLG FAS FADD CASP8
21
Show member pathways
12.58 PTPN11 PRKCD NRAS ITK FAS CTLA4
22 12.53 SH2D1A ITK INPP5D FASLG FAS CTLA4
23
Show member pathways
12.51 XIAP PRKCD NRAS CASP8 CASP10
24
Show member pathways
12.46 PRKCD FASLG FAS FADD CD70 CD27
25
Show member pathways
12.43 PTPN11 PRKCD NRAS INPP5D
26
Show member pathways
12.42 PRKCD NRAS CASP8 CASP10
27
Show member pathways
12.39 PTPN11 PRKCD NRAS INPP5D
28
Show member pathways
12.38 PTPN11 PRKCD NRAS INPP5D
29 12.29 PTPN11 NRAS FASLG FAS
30 12.27 PTPN11 FASLG FAS FADD CASP8
31
Show member pathways
12.27 XIAP FASLG FAS FADD CASP8 CASP10
32
Show member pathways
12.24 FASLG FAS CASP8 CASP10
33
Show member pathways
12.23 SH2D1A PTPN11 PRF1 NRAS INPP5D FASLG
34 12.22 XIAP PRKCD FADD CASP8
35
Show member pathways
12.22 XIAP FASLG FAS FADD CASP8 CASP10
36
Show member pathways
12.21 PTPN11 NRAS INPP5D CD244
37
Show member pathways
12.19 PTPN11 PRKCD NRAS CASP8
38
Show member pathways
12.18 XIAP FASLG FAS FADD CASP8
39 12.15 XIAP PTPN11 FASLG FAS FADD CASP8
40 11.98 FAS FADD CASP8 CASP10
41
Show member pathways
11.98 PRKCD NRAS FADD CASP8 CASP10
42 11.95 SLAMF1 LY9 CD244
43
Show member pathways
11.95 XIAP PRF1 NRAS FASLG FAS FADD
44
Show member pathways
11.91 PTPN11 PRF1 ITK
45
Show member pathways
11.83 PRKCD NRAS CASP8 CASP10
46
Show member pathways
11.81 FASLG FAS CD70 CD27
47
Show member pathways
11.76 XIAP PRF1 FASLG FAS FADD CASP8
48
Show member pathways
11.68 PTPN11 PRF1 FASLG
49
Show member pathways
11.65 XIAP PRF1 FASLG FAS FADD CASP8
50 11.63 XIAP FASLG FAS FADD CASP8

GO Terms for Lymphoproliferative Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.17 SLAMF6 SLAMF1 PRKCD PRF1 NRAS LY9
2 external side of plasma membrane GO:0009897 9.77 FASLG FAS CTLA4 CD27 CD244
3 membrane raft GO:0045121 9.65 INPP5D FASLG FAS FADD CASP8
4 death-inducing signaling complex GO:0031264 9.33 FAS FADD CASP8
5 ripoptosome GO:0097342 9.13 FADD CASP8 CASP10
6 CD95 death-inducing signaling complex GO:0031265 8.92 FAS FADD CASP8 CASP10

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.22 PRKCD NRAS ITK INPP5D FASLG FAS
2 immune response GO:0006955 10.02 FASLG FAS CTLA4 CD70 CD244
3 innate immune response GO:0045087 10.02 SLAMF6 SLAMF1 SH2D1A LY9 FADD CD244
4 adaptive immune response GO:0002250 9.98 SLAMF6 SLAMF1 SH2D1A LY9 ITK CTLA4
5 immune system process GO:0002376 9.97 SLAMF6 SLAMF1 SH2D1A LY9 ITK INPP5D
6 cell surface receptor signaling pathway GO:0007166 9.96 FADD CD27 CASP8 CASP10
7 positive regulation of apoptotic process GO:0043065 9.96 INPP5D FASLG FAS FADD CTLA4
8 regulation of apoptotic process GO:0042981 9.93 FAS FADD CASP8 CASP10
9 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.9 FASLG FADD CASP8 CASP10
10 tumor necrosis factor-mediated signaling pathway GO:0033209 9.81 FASLG FAS CD70 CD27
11 cellular response to mechanical stimulus GO:0071260 9.8 PTPN11 FAS FADD CASP8
12 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.77 FASLG FAS FADD CASP8 CASP10
13 cellular defense response GO:0006968 9.75 SH2D1A PRF1 ITK
14 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.71 FASLG FAS FADD CASP8
15 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.7 FASLG FADD CASP8
16 negative regulation of B cell proliferation GO:0030889 9.66 INPP5D CTLA4
17 activation of cysteine-type endopeptidase activity GO:0097202 9.65 FADD CASP8
18 positive regulation of macrophage differentiation GO:0045651 9.65 FADD CASP8
19 immunoglobulin mediated immune response GO:0016064 9.65 PRKCD INPP5D CD27
20 apoptotic signaling pathway GO:0097190 9.65 FASLG FAS FADD CASP8 CASP10
21 apoptotic process GO:0006915 9.65 XIAP PRKCD PRF1 INPP5D FASLG FAS
22 negative regulation of immune response GO:0050777 9.64 INPP5D CTLA4
23 positive regulation of interleukin-17 production GO:0032740 9.64 SLAMF6 LY9
24 positive regulation of B cell differentiation GO:0045579 9.63 INPP5D CD27
25 necroptotic signaling pathway GO:0097527 9.63 FASLG FAS FADD
26 toll-like receptor 3 signaling pathway GO:0034138 9.62 FADD CASP8
27 death-inducing signaling complex assembly GO:0071550 9.61 FADD CASP8
28 regulation of necroptotic process GO:0060544 9.61 FADD CASP8
29 T-helper 17 cell lineage commitment GO:0072540 9.59 SLAMF6 LY9
30 TRAIL-activated apoptotic signaling pathway GO:0036462 9.58 FADD CASP8
31 motor neuron apoptotic process GO:0097049 9.54 FAS FADD
32 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.46 FASLG FAS FADD CASP8
33 extrinsic apoptotic signaling pathway GO:0097191 9.1 FASLG FAS FADD CD70 CD27 CASP8

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.23 XIAP SLAMF6 SLAMF1 SH2D1A PTPN11 PRKCD
2 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.43 CASP8 CASP10
3 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.4 CASP8 CASP10
4 insulin receptor substrate binding GO:0043560 9.37 PTPN11 PRKCD
5 death receptor binding GO:0005123 9.33 FASLG FADD CASP8
6 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.32 CASP8 CASP10
7 tumor necrosis factor receptor binding GO:0005164 9.26 FASLG FADD CD70 CASP8
8 death effector domain binding GO:0035877 8.8 FADD CASP8 CASP10

Sources for Lymphoproliferative Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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