ALPS5
MCID: ATM082
MIFTS: 67

Autoimmune Lymphoproliferative Syndrome, Type V (ALPS5)

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

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type V

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome, Type V:

Name: Autoimmune Lymphoproliferative Syndrome, Type V 58 30 6 41 74
Lymphoproliferative Disorders 45 74
Alps5 58 76
Chai 58 60
Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency 60
Ctla-4 Haploinsufficiency with Autoimmune Infiltration Disease 60
Ctla4 Haploinsufficiency with Autoimmune Infiltration; Chai 58
Ctla4 Haploinsufficiency with Autoimmune Infiltration 58
Autoimmune Lymphoproliferative Syndrome Type V 76
Autoimmune Lymphoproliferative Syndrome 5 76
Alps Due to Ctla4 Haploinsuffiency 60

Characteristics:

Orphanet epidemiological data:

60
autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
variable age at onset (childhood to adulthood)


HPO:

33
autoimmune lymphoproliferative syndrome, type v:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autoimmune Lymphoproliferative Syndrome, Type V

OMIM : 58 Autoimmune lymphoproliferative syndrome type V is an autosomal dominant complex immune disorder characterized by autoimmune thrombocytopenias and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. Some patients may show features of an immunodeficiency syndrome with recurrent infections, but immunosuppressive therapy often results in clinical improvement (summary by Kuehn et al., 2014). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859. (616100)

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, Type V, also known as lymphoproliferative disorders, is related to lymphoproliferative syndrome and lymphoma, hodgkin, classic, and has symptoms including diarrhea An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type V is CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4), and among its related pathways/superpathways are T cell receptor signaling pathway and NF-kappaB Signaling. The drugs Azathioprine and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and bone, and related phenotypes are recurrent upper respiratory tract infections and eczema

UniProtKB/Swiss-Prot : 76 Autoimmune lymphoproliferative syndrome 5: An autosomal dominant primary immunodeficiency characterized by severe autoimmunity, infiltration of non-lymphoid organs, such as the intestine, lungs and brain, by hyperactive T cells and B cells, autoimmune cytopenias, and hypogammaglobulinemia in early childhood.

Related Diseases for Autoimmune Lymphoproliferative Syndrome, Type V

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 Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency
Autosomal Recessive Lymphoproliferative Disease

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

(show top 50) (show all 357)
# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome 32.9 CTLA4 FAS SH2D1A
2 lymphoma, hodgkin, classic 30.6 ALK BCL6 CD5
3 primary cutaneous anaplastic large cell lymphoma 30.4 ALK TIA1
4 human herpesvirus 8 30.4 BCL2 BCL6
5 lymphomatoid papulosis 30.2 ALK FAS TIA1
6 angioimmunoblastic t-cell lymphoma 30.2 BCL6 TIA1
7 aplastic anemia 30.2 FAS SH2D1A TRB
8 lymphoma 30.1 ALK BCL2 BCL6 SH2D1A TCL1A
9 mantle cell lymphoma 30.1 BCL2 BCL6 CD5
10 marginal zone b-cell lymphoma 30.0 BCL2 BCL6 CD5
11 hemophagocytic lymphohistiocytosis 30.0 CD5 FAS SH2D1A
12 type ii mixed cryoglobulinemia 29.9 CD5 FAS
13 primary central nervous system lymphoma 29.9 BCL2 BCL6
14 lymphosarcoma 29.9 BCL6 CD5 SH2D1A
15 primary effusion lymphoma 29.8 BCL6 TCL1A
16 common variable immunodeficiency 29.7 CTLA4 FAS SH2D1A
17 composite lymphoma 29.7 BCL6 CD5 TIA1
18 splenic marginal zone lymphoma 29.6 BCL6 CD5
19 lymphoma, mucosa-associated lymphoid type 29.4 BCL2 BCL6 CD5
20 leukemia, chronic lymphocytic 29.3 BCL2 BCL6 CD5 FAS TCL1A
21 prolymphocytic leukemia 29.2 CD5 TCL1A
22 peripheral t-cell lymphoma 29.0 ALK BCL6 CD5 TCL1A TIA1
23 b-cell lymphomas 28.8 BCL2 BCL6 CD5 FAS TCL1A TIA1
24 burkitt lymphoma 28.8 BCL2 BCL6 FAS SH2D1A TCL1A
25 lymphoma, non-hodgkin, familial 27.6 ALK BCL2 BCL6 CD5 FAS SH2D1A
26 methotrexate-associated lymphoproliferative disorders 12.3
27 chronic lymphoproliferative disorder of natural killer cells 12.3
28 post-transplant lymphoproliferative disease 12.0
29 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency 11.6
30 chronic nk-cell lymphocytosis 11.4
31 lymphoid interstitial pneumonia 11.4
32 necrobiotic xanthogranuloma 11.4
33 lymphomatoid granulomatosis 11.3
34 waldenstrom macroglobulinemia 11.3
35 acquired angioedema 11.3
36 granulomatous slack skin disease 11.3
37 autoimmune lymphoproliferative syndrome 11.3
38 t-cell large granular lymphocyte leukemia 11.3
39 castleman disease 11.3
40 pityriasis lichenoides 11.3
41 lymphoproliferative syndrome, x-linked, 1 11.1
42 lymphoproliferative syndrome 2 11.1
43 lymphoid leukemia 10.9
44 acquired von willebrand syndrome 10.9
45 pityriasis lichenoides et varioliformis acuta 10.9
46 leukemia 10.7
47 hepatitis 10.6
48 arthritis 10.6
49 rheumatoid arthritis 10.6
50 hepatitis c 10.5

Graphical network of the top 20 diseases related to Autoimmune Lymphoproliferative Syndrome, Type V:



Diseases related to Autoimmune Lymphoproliferative Syndrome, Type V

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome, Type V

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type V:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 recurrent upper respiratory tract infections 33 occasional (7.5%) HP:0002788
2 eczema 33 occasional (7.5%) HP:0000964
3 psoriasiform dermatitis 33 occasional (7.5%) HP:0003765
4 splenomegaly 33 HP:0001744
5 hepatomegaly 33 HP:0002240
6 decreased antibody level in blood 33 HP:0004313
7 lymphopenia 33 HP:0001888
8 diarrhea 33 HP:0002014
9 lymphadenopathy 33 HP:0002716
10 autoimmune hemolytic anemia 33 HP:0001890
11 autoimmune thrombocytopenia 33 HP:0001973

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Abdomen Gastrointestinal:
diarrhea
lymphocytic enteropathy

Hematology:
autoimmune hemolytic anemia
autoimmune thrombocytopenia

Skin Nails Hair Skin:
eczema (in some patients)
psoriasis (in some patients)

Respiratory Lung:
granulomatous lymphocytic interstitial lung disease

Neurologic Central Nervous System:
lymphocytic infiltration of the brain

Abdomen Liver:
hepatomegaly

Immunology:
lymphadenopathy
recurrent infections (in some patients)
hypogammaglobulinemia
autoantibodies
decreased memory b cells
more
Endocrine Features:
autoimmune thyroiditis

Respiratory:
recurrent upper respiratory infections (in some patients)

Skeletal:
autoimmune arthritis

Clinical features from OMIM:

616100

UMLS symptoms related to Autoimmune Lymphoproliferative Syndrome, Type V:


diarrhea

MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type V:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 BCL2 BCL6 CD5 CTLA4 FAS SH2D1A
2 immune system MP:0005387 9.5 BCL2 BCL6 CD5 CTLA4 FAS SH2D1A
3 pigmentation MP:0001186 8.92 ALK BCL2 CTLA4 FAS

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type V

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

(show top 50) (show all 1120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azathioprine Approved Phase 4,Phase 3,Early Phase 1 446-86-6 2265
2
Methotrexate Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 1959-05-2, 59-05-2 126941
3
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 53-03-2 5865
4
Mycophenolic acid Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 24280-93-1 446541
5
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 104987-11-3 445643 439492 6473866
6
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 53123-88-9 46835353 6436030 5284616
7
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 22916-47-8 4189
8
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 159351-69-6 6442177 70789204
9
tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1401-55-4
10
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 94-09-7, 1994-09-7 2337
11
Pancrelipase Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 53608-75-6
12
Cytarabine Approved, Experimental, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 147-94-4, 65-46-3 6253
13
Doxorubicin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 23214-92-8 31703
14
Daunorubicin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 20830-81-3 30323
15
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 1177-87-3
16
leucovorin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 58-05-9 6006 143
17
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 50-02-2 5743
18
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 2921-57-5
19
Fludarabine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 75607-67-9, 21679-14-1 30751
20
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 83-43-2 6741
21
Thioguanine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 154-42-7 2723601
22
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 6055-19-2, 50-18-0 2907
23
Mercaptopurine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-44-2 667490
24
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 302-25-0
25
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-24-8 5755
26
Vincristine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 2068-78-2, 57-22-7 5978
27
Dasatinib Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 302962-49-8 3062316
28
Etoposide Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 33419-42-0 36462
29
Idarubicin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 58957-92-9 42890
30
Vinblastine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 865-21-4 13342 241903
31
Riociguat Approved Phase 4 625115-55-1
32
Teniposide Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 29767-20-2 34698
33
Hydrocortisone acetate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-03-3
34
Hydrocortisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-23-7 5754
35
Mitoxantrone Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 65271-80-9 4212
36
Pegaspargase Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 130167-69-0
37
Cladribine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 4291-63-8 20279
38
Vindesine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 59917-39-4, 53643-48-4 40839
39
Lenograstim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 135968-09-1
40
rituximab Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 174722-31-7 10201696
41
Sargramostim Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 123774-72-1, 83869-56-1
42
Hydroxocobalamin Approved Phase 4,Phase 3,Phase 2,Phase 1 13422-51-0 11953898 15589840
43
Methylcobalamin Approved, Experimental, Investigational Phase 4,Phase 3,Phase 2,Phase 1 13422-55-4
44
Ferrous succinate Approved Phase 4 10030-90-7
45
Iron Approved, Experimental Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable,Early Phase 1 7439-89-6, 15438-31-0 23925 27284
46
Gemcitabine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 95058-81-4 60750
47
Cisplatin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15663-27-1 441203 84093 2767
48
Epirubicin Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 56420-45-2 41867
49
Oxaliplatin Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 61825-94-3 6857599 5310940 9887054 43805
50
Ifosfamide Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 3778-73-2 3690

Interventional clinical trials:

(show top 50) (show all 8676)
# Name Status NCT ID Phase Drugs
1 Low Grade Lymphoma Unknown status NCT01698866 Phase 4
2 Use of Roflumilast to Prevent Exacerbations in Fibrotic Sarcoidosis Patients (REFS) Unknown status NCT01830959 Phase 4 Roflumilast;Placebo
3 Acthar Gel for Chronic Pulmonary Sarcoidosis (ACPS) Unknown status NCT02188017 Phase 4 Acthar gel
4 A Study To Compare Sirolimus Versus Tacrolimus In De Novo Simultaneous Pancreas- Kidney Allograft Recipients Receiving An Induction Therapy With Antithymocyte Globulin Plus Mycophenolate Mofetil Plus Corticosteroids Unknown status NCT00693446 Phase 4 Sirolimus;Tacrolimus
5 PEG-rhG-CSF in Lymphoma Patients After Autologous Hematopoietic Stem Cell Transplantation Unknown status NCT02905942 Phase 4 PEG-rhG-CSF;rhG-CSF
6 Malaysia-Singapore Acute Lymphoblastic Leukemia 2010 Study Unknown status NCT02894645 Phase 4 Prednisolone;Dexamethasone;L-Asparaginase;Vincristine;Methotrexate;Daunorubicin;Doxorubicin;Cyclophosphamide;Cytarabine;6-Mercaptopurine;Thioguanine;Fludarabine;Imatinib
7 Low-dose Chemotherapy Combine With Tyrosine Kinase Inhibitor to Treat ph+ Acute Lymphoblastic Leukemia Patients Unknown status NCT02690922 Phase 4 Dasatinib;prednisone;dexamethasone;methotrexate
8 HD-Idarubicin/Etoposide Intensified Conditioning Regimen Allo-HSCT for Adult ALL Unknown status NCT01873807 Phase 4 IDA;CTX;VP-16
9 Surgery Alone, Surgery With Cyclophosphamide, Vinblastine, and Prednisolone (CVP), or CVP Alone in Treating Young Patients With Stage IA or Stage IIA Nodular Lymphocyte-Predominant Hodgkin Lymphoma Unknown status NCT01088750 Phase 4 cyclophosphamide;prednisolone;vinblastine sulfate
10 Riociguat for Sarcoidosis Associated Pulmonary Hypertension Unknown status NCT02625558 Phase 4 Riociguat;Placebo
11 Treatment of High Risk Adult Acute Lymphoblastic Leukemia Unknown status NCT00853008 Phase 4 Vincristine;Daunorubicin;Prednisone;Mitoxantrone;Cytosine Arabinoside;Dexamethasone;Methotrexate (MTX);Cytarabine;ASP;Mercaptopurine;Teniposide;Hydrocortisone
12 The GD-2008 ALL Protocol for Childhood Acute Lymphoblastic Leukemia Unknown status NCT00846703 Phase 4 6-mercaptopurine, Methotrexate;6-mercaptopurine, Methotrexate, Vincristine, Dexamethasone
13 Medical Research Council (MRC) Working Party on Leukaemia in Children UK National Acute Lymphoblastic Leukaemia (ALL) Trial: UKALL 2003 Unknown status NCT00222612 Phase 4 Standard childhood UK ALL protocol;Intensified treatment including Capizzi maintenance
14 German Multicenter Trial for Treatment of Newly Diagnosed Acute Lymphoblastic Leukemia in Adults (07/2003) Unknown status NCT00198991 Phase 4 Cyclophosphamide;Dexamethasone;Vincristine;daunorubicin;Asparaginase;Methotrexate;Cytarabine;Mercaptopurine;G-CSF;Vindesine;VP16;Prednisolone;Adriamycin;Thioguanine;VM26;Idarubicin;Fludarabine;Cladribine
15 German Multicenter Trial for Treatment of Elderly Patients With Newly Diagnosed Acute Lymphoblastic Leukemia Unknown status NCT00198978 Phase 4 Cyclophosphamide;Dexamethasone / Prednisolone;Cytarabine;Idarubicin;Granulocyte-Colony-Stimulating Factor;Mercaptopurine;Methotrexate;Rituximab;HDARAC;Vincristine;Depocyte;Asparaginase
16 Poly(Ethylene Glycol)(PEG)-Asparaginase During Two Treatment Courses Unknown status NCT00192673 Phase 4 PEG-asparaginase
17 Erythropoietin in the Treatment of Anemia After Autologous Hematopoietic Stem Cell Transplantation Unknown status NCT03010579 Phase 4 erythropoietin;iron supplementation
18 PEG-rhG-CSF in Patients With Non-Hodgkin Lymphoma Receiving Chemotherapy to Prevent Neutropenia Unknown status NCT02996617 Phase 4 rhG-CSF regimen;Pegylated rhG-CSF regimen
19 To Compare the Efficacy of a Prophylactic Use of Tenofovir by Duration for the Non-Hodgkin's Lymphoma Unknown status NCT02585947 Phase 4 Tenofovir
20 CEOP/IVE/GDP Compared With CEOP as the First-line Therapy for Newly Diagnosed Adult Patients With PTCL Unknown status NCT02533700 Phase 4 CEOP/IVE/GDP chemotherapy regimen;CEOP chemotherapy regimen for 6 cycles
21 Treatment Protocol of Children With Philadelphia Chromosome Negative High Risk Acute Lymphoblastic Leukemia Unknown status NCT01990807 Phase 4 Idarubicin(IDA)
22 Treatment of Diffuse Large B Cell Lymphoma Unknown status NCT01949818 Phase 4 Yangzhengxiaoji capsule combined with CHOP regimen;CHOP regimen
23 Prophylactic Use of Entecavir for HBsAg Positive Lymphoma Patients Treated With Rituximab-based Immunochemotherapy Unknown status NCT01768195 Phase 4 Entecavir prophylaxis
24 Prophylactic Use of Entecavir for HBsAg Negative/HBcAb Positive/Hepatitis B Virus DNA Negative Patients With Lymphoma Unknown status NCT01765231 Phase 4 Entecavir prophylaxis;Observation arm
25 Intensification Therapy of Mature B-ALL, Burkitt and Burkitt Like and Other High Grade Non-Hodgkin's Lymphoma in Adults Unknown status NCT00797810 Phase 4 Rituximab
26 Treatment With a Scheme With Low Doses of Bortezomib / Melphalan / Prednisone (MPV) in Patients With Multiple Myeloma Unknown status NCT02773550 Phase 4 Bortezomib;Melphalan;Prednisone
27 Efficacy and Safety of Nipent, Cytoxan and Rituxan in the Treatment of Chronic Lymphocytic Leukemia. Unknown status NCT00131313 Phase 4 Nipent, Cytoxan, Rituxan
28 A Study of PAD Versus Velcade, Cyclophosphamide and Dexamethasone (VCD) Treatment in Subjects With Multiple Myeloma Unknown status NCT01868828 Phase 4 PAD;VCD
29 Optimization of the Primary Therapy for Patients With Hodgkin's Disease and Evaluation of PET Unknown status NCT00188149 Phase 4 Combined chemotherapy (ABVD, BACOPP-D)
30 Efficacy Study of PAD and TAD in Newly Diagnosed Multiple Myeloma Unknown status NCT01249690 Phase 4 Bortezomib,Pirarubicin,Dexamethasone;Thalidomide,Pirarubicin,Dexamethasone
31 Stage I Multiple Myeloma Treatment Unknown status NCT00733538 Phase 4 zometa
32 CHUSPAN SCS BP Treatment of Churg–Strauss Syndrome Without Poor-Prognosis Factors Unknown status NCT00399399 Phase 4 azathioprine;cyclophosphamide
33 Fludarabine, Cyclophosphamide, Doxorubicin and Rituximab for the Treatment of Post-transplant Lymphoproliferative Disease (PTLD) Completed NCT01088724 Phase 4 fludarabine, cyclophosphamide, doxorubicin, rituximab
34 A Study of the Quality of Life and Treatment Response to Once Weekly Epoetin Beta (Recormon) Treatment in Anemic Participants With Solid and Lymphoid Malignancies Completed NCT00776425 Phase 4 Epoetin beta
35 Safety, Immunogenicity And Efficacy Of Vaccination In Military Personnel Completed NCT01807780 Phase 4
36 Improved Induction and Maintenance Immunosuppression in Kidney Transplantation Completed NCT00556933 Phase 4 rabbit anti-thymocyte globulin;mycophenolate mofetil;rabbit anti-thymocyte globulin;sirolimus;tacrolimus
37 Study of Alemtuzumab Versus Anti-thymocyte Globulin to Help Prevent Rejection in Kidney and Pancreas Transplantation Completed NCT00331162 Phase 4 Alemtuzumab;Anti-Thymocyte Globulin
38 The Vienna Prograf and Endothelial Progenitor Cell Study Completed NCT00182559 Phase 4 Ciclosporin;Tacrolimus
39 Desensitization in Kidney Transplantation Completed NCT00908583 Phase 4 plasmapheresis;Bortezomib;Rituximab;Methylprednisolone
40 Open Label Comparative Study Of De Novo Renal Allograft Recipients Receiving CSA + MMF + Corticosteroids Versus CSA + Rapamune + Corticosteroids Completed NCT01601821 Phase 4 CsA+Rapamune+CS;CsA+MMF+CS
41 Use of Focalin for Fatigue in Sarcoidosis Completed NCT00361387 Phase 4 d-methylphenidate
42 Rasburicase for Treatment of Hyperuricemia in Children and Adolescence Patients With Tumor Lysis Syndrome Completed NCT00563771 Phase 4 Rasburicase
43 Fractionated Versus Target-controlled Propofol Administration in Bronchoscopy Completed NCT02246023 Phase 4
44 Rasburicase in Tumor Lysis Syndrome Completed NCT00302653 Phase 4 Rasburicase
45 Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary Immunodeficiency Completed NCT00520494 Phase 4 Vivaglobin
46 PEG-rhG-CSF in Patients With Lymphoma Receiving Chemotherapy Completed NCT02805218 Phase 4 PEG-rhG-CSF
47 An Expanded Access Program of Pegfilgrastim (Neulastim) in Participants With Non-Hodgkin's Lymphoma (NHL) Completed NCT02782845 Phase 4 Chemotherapy;Immunochemotherapy;Pegfilgrastim
48 Rituximab Plus Chemotherapy for CD20+ Adult Acute Lymphoblastic Leukemia Completed NCT01358253 Phase 4 Cyclophosphamide;Doxorubicin;Vincristine;Dexamethasone;Cytarabine;Methotrexate;Rituximab;6-Mercaptopurine;Prednisone;L-asparaginase
49 Comparison Of 2 Doses Of Temsirolimus (Torisel) In Patients With Mantle Cell Lymphoma Completed NCT01180049 Phase 4 temsirolimus;temsirolimus
50 Evaluation of Approved Weight-Based Dose Compared to Fixed Dose of Plerixafor in Patients With Non-Hodgkin's Lymphoma (NHL) Weighing Less Than 70 Kilograms Completed NCT01164475 Phase 4 Granulocyte-colony stimulating factor (G-CSF);Fixed Dose Plerixafor;Weight-Based Plerixafor

Search NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome, Type V

Cochrane evidence based reviews: lymphoproliferative disorders

Genetic Tests for Autoimmune Lymphoproliferative Syndrome, Type V

Genetic tests related to Autoimmune Lymphoproliferative Syndrome, Type V:

# Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome, Type V 30 CTLA4

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type V

MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome, Type V:

42
B Cells, T Cells, Bone, Bone Marrow, Myeloid, Lung, Nk Cells

Publications for Autoimmune Lymphoproliferative Syndrome, Type V

Articles related to Autoimmune Lymphoproliferative Syndrome, Type V:

(show top 50) (show all 1665)
# Title Authors Year
1
Epstein Barr Virus Associated B-Cell Lymphomas and Iatrogenic Lymphoproliferative Disorders. ( 30899698 )
2019
2
Kaposi's sarcoma-associated herpesvirus/human herpesvirus 8 associated lymphoproliferative disorders. ( 30610029 )
2019
3
Dermoscopy in lymphoproliferative disorders - experience from a cutaneous lymphoma clinic in a tertiary cancer center. ( 30654076 )
2019
4
The potential usefulness of sputum cytology in the conclusive diagnosis of methotrexate-associated lymphoproliferative disorders: A case report. ( 30886720 )
2019
5
Evaluation of PD1/PDL1 Expression and Their Clinicopathologic Association in EBV-associated Lymphoproliferative Disorders in Nonimmunosuppressed Patients. ( 29084057 )
2019
6
A Review of Primary Cutaneous CD30+ Lymphoproliferative Disorders. ( 30497669 )
2019
7
EBV+ mucocutaneous ulcers in the setting of pre-existing cutaneous T-cell lymphoproliferative disorders: A report of 2 cases. ( 30581939 )
2019
8
CD30-Positive Lymphoproliferative Disorders. ( 30596222 )
2019
9
Experiences in the treatment of refractory chylothorax associated with lymphoproliferative disorders. ( 30626415 )
2019
10
CD30-positive primary cutaneous lymphoproliferative disorders: molecular alterations and targeted therapies. ( 30630983 )
2019
11
Improving CD20 antibody therapy: obinutuzumab in lymphoproliferative disorders. ( 30668192 )
2019
12
Primary cutaneous CD8+ and CD30+ T-cell lymphoproliferative disorders: case reports and clinical implications. ( 30670369 )
2019
13
Serum-free light chains adjusted for renal function are a potential biomarker for post-transplant lymphoproliferative disorders. ( 30680506 )
2019
14
The Tumor Microenvironment in Post-Transplant Lymphoproliferative Disorders. ( 30680693 )
2019
15
The spectrum of CD30+ T cell lymphoproliferative disorders in the skin. ( 30691273 )
2019
16
Metagenomic analysis of DNA viruses from posttransplant lymphoproliferative disorders. ( 30697958 )
2019
17
Flow Cytometry Applications in the Diagnosis of T/NK-Cell Lymphoproliferative Disorders. ( 30729667 )
2019
18
The Emerging Role of Liquid Biopsies in Lymphoproliferative Disorders. ( 30811017 )
2019
19
Rethinking the elusive boundaries of EBV-associated T/NK-cell lymphoproliferative disorders. ( 30819836 )
2019
20
Additional considerations related to the elusive boundaries of EBV-associated T/NK-cell lymphoproliferative disorders. ( 30819837 )
2019
21
Cancer risk following post-transplant lymphoproliferative disorders in solid organ transplant recipients. ( 30820931 )
2019
22
Automated differential white blood cell count and cytological analysis can detect near-tetraploid cells in chronic lymphoproliferative disorders. ( 30831003 )
2019
23
The Role and Contribution of Clonality Studies in the Diagnosis of Lymphoproliferative Disorders. ( 30844104 )
2019
24
Clinicopathological Evaluation of PD1/PD-L1 Axis in Post-Transplant Lymphoproliferative Disorders: Association with EBV, PD-L1 Copy Number Alterations and Outcome. ( 30861172 )
2019
25
Ixazomib: an investigational drug for the treatment of lymphoproliferative disorders. ( 30907163 )
2019
26
Lymphomatoid granulomatosis and large granular lymphocyte leukemia, a rare association of two lymphoproliferative disorders. ( 29473430 )
2018
27
The prognostic value of positron emission tomography/computed tomography in rheumatoid arthritis patients with methotrexate-associated lymphoproliferative disorders. ( 29713747 )
2018
28
Kidney Involvement of Patients with WaldenstrAPm Macroglobulinemia and Other IgM-Producing B Cell Lymphoproliferative Disorders. ( 29848505 )
2018
29
Post-transplant lymphoproliferative disorders after solid organ and hematopoietic stem cell transplantation. ( 29966464 )
2018
30
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
31
Epstein-Barr Virus (EBV)-Related Lymphoproliferative Disorders in Ataxia Telangiectasia: Does ATM Regulate EBV Life Cycle? ( 30662441 )
2018
32
Epstein-Barr Virus-Related Post-Transplant Lymphoproliferative Disorders in Cystic Fibrosis Lung Transplant Recipients: A Case Series. ( 30655153 )
2018
33
Epstein-Barr Virus-Related Post-Transplantation Lymphoproliferative Disorders After Allogeneic Hematopoietic Stem Cell Transplantation. ( 29530767 )
2018
34
Human Herpesvirus 8 and Lymphoproliferative Disorders. ( 30416693 )
2018
35
Lymphoproliferative Disorders in Inflammatory Bowel Disease Patients: Is It the Drugs or the Disease. ( 29998162 )
2018
36
Utility of CD200 expression and CD20 antibody binding capacity in differentiating chronic lymphocytic leukemia from other chronic lymphoproliferative disorders. ( 29567884 )
2018
37
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
38
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
39
Treatment of advanced stage methotrexate-associated lymphoproliferative disorders (MTX-LPDs) with methotrexate discontinuation. ( 30567235 )
2018
40
NK-Cell Enteropathy and Similar Indolent Lymphoproliferative Disorders: A Case Series With Literature Review. ( 30212873 )
2018
41
Nodal Involvement by CD30+ Cutaneous Lymphoproliferative Disorders and Its Challenging Differentiation From Classical Hodgkin Lymphoma. ( 29257929 )
2018
42
Immunodeficiency-associated lymphoproliferative disorders: time for reappraisal? ( 30082493 )
2018
43
Cancer Therapy-associated Lymphoproliferative Disorders: An Under-recognized Type of Immunodeficiency-associated Lymphoproliferative Disorder. ( 29112013 )
2018
44
Immunodeficiency-Associated Lymphoproliferative Disorders. ( 29131000 )
2018
45
Retraction: Haploinsufficiency of the Hmga1 Gene Causes Cardiac Hypertrophy and Myelo-Lymphoproliferative Disorders in Mice. ( 30552126 )
2018
46
Views of dermatopathologists about clonality assays in the diagnosis of cutaneous T-cell and B-cell lymphoproliferative disorders. ( 29084365 )
2018
47
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disorders of childhood with fulminant leukocytosis and tumor lysis: a case report with autopsy findings. ( 29218495 )
2018
48
Posttransplant Lymphoproliferative Disorders in Epstein-Barr Virus Donor Positive/Recipient Negative Lung Transplant Recipients. ( 29223419 )
2018
49
Primary Pediatric Cutaneous T-Cell Lymphoproliferative Disorders: 3 New Cases. ( 29240032 )
2018
50
Lymphoproliferative disorders in patients with chronic myeloproliferative neoplasms: A systematic review. ( 29377227 )
2018

Variations for Autoimmune Lymphoproliferative Syndrome, Type V

UniProtKB/Swiss-Prot genetic disease variations for Autoimmune Lymphoproliferative Syndrome, Type V:

76
# Symbol AA change Variation ID SNP ID
1 CTLA4 p.Arg70Trp VAR_072681 rs606231422

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome, Type V:

6 (show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTLA4 NM_005214.5(CTLA4): c.151C> T (p.Arg51Ter) single nucleotide variant Pathogenic rs606231417 GRCh38 Chromosome 2, 203870627: 203870627
2 CTLA4 NM_005214.5(CTLA4): c.151C> T (p.Arg51Ter) single nucleotide variant Pathogenic rs606231417 GRCh37 Chromosome 2, 204735350: 204735350
3 CTLA4 NM_005214.4(CTLA4): c.75delG (p.Leu28Phefs) deletion Pathogenic rs606231418 GRCh38 Chromosome 2, 203868017: 203868017
4 CTLA4 NM_005214.4(CTLA4): c.75delG (p.Leu28Phefs) deletion Pathogenic rs606231418 GRCh37 Chromosome 2, 204732740: 204732740
5 CTLA4 NM_005214.5(CTLA4): c.567+5G> C single nucleotide variant Pathogenic rs606231419 GRCh38 Chromosome 2, 203871492: 203871492
6 CTLA4 NM_005214.5(CTLA4): c.567+5G> C single nucleotide variant Pathogenic rs606231419 GRCh37 Chromosome 2, 204736215: 204736215
7 CTLA4 NM_005214.5(CTLA4): c.105C> A (p.Cys35Ter) single nucleotide variant Pathogenic rs606231420 GRCh38 Chromosome 2, 203868047: 203868047
8 CTLA4 NM_005214.5(CTLA4): c.105C> A (p.Cys35Ter) single nucleotide variant Pathogenic rs606231420 GRCh37 Chromosome 2, 204732770: 204732770
9 CTLA4 NM_005214.5(CTLA4): c.109+1G> T single nucleotide variant Pathogenic rs606231421 GRCh38 Chromosome 2, 203868052: 203868052
10 CTLA4 NM_005214.5(CTLA4): c.109+1G> T single nucleotide variant Pathogenic rs606231421 GRCh37 Chromosome 2, 204732775: 204732775
11 CTLA4 NM_005214.5(CTLA4): c.208C> T (p.Arg70Trp) single nucleotide variant Uncertain significance rs606231422 GRCh38 Chromosome 2, 203870684: 203870684
12 CTLA4 NM_005214.5(CTLA4): c.208C> T (p.Arg70Trp) single nucleotide variant Uncertain significance rs606231422 GRCh37 Chromosome 2, 204735407: 204735407
13 CTLA4 NM_005214.5(CTLA4): c.118G> A (p.Val40Met) single nucleotide variant Likely pathogenic rs1553657378 GRCh37 Chromosome 2, 204735317: 204735317
14 CTLA4 NM_005214.5(CTLA4): c.118G> A (p.Val40Met) single nucleotide variant Likely pathogenic rs1553657378 GRCh38 Chromosome 2, 203870594: 203870594
15 CTLA4 NM_005214.5(CTLA4): c.160G> A (p.Ala54Thr) single nucleotide variant Likely pathogenic rs1553657387 GRCh37 Chromosome 2, 204735359: 204735359
16 CTLA4 NM_005214.5(CTLA4): c.160G> A (p.Ala54Thr) single nucleotide variant Likely pathogenic rs1553657387 GRCh38 Chromosome 2, 203870636: 203870636
17 CTLA4 NM_005214.5(CTLA4): c.410C> T (p.Pro137Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1553657429 GRCh38 Chromosome 2, 203870886: 203870886
18 CTLA4 NM_005214.5(CTLA4): c.410C> T (p.Pro137Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1553657429 GRCh37 Chromosome 2, 204735609: 204735609
19 CTLA4 NM_005214.5(CTLA4): c.420C> A (p.Tyr140Ter) single nucleotide variant Pathogenic rs1357409506 GRCh37 Chromosome 2, 204735619: 204735619
20 CTLA4 NM_005214.5(CTLA4): c.420C> A (p.Tyr140Ter) single nucleotide variant Pathogenic rs1357409506 GRCh38 Chromosome 2, 203870896: 203870896
21 CTLA4 NM_005214.5(CTLA4): c.23G> A (p.Arg8Gln) single nucleotide variant Uncertain significance rs138279736 GRCh38 Chromosome 2, 203867965: 203867965
22 CTLA4 NM_005214.5(CTLA4): c.23G> A (p.Arg8Gln) single nucleotide variant Uncertain significance rs138279736 GRCh37 Chromosome 2, 204732688: 204732688
23 CTLA4 NM_005214.5(CTLA4): c.75G> C (p.Leu25=) single nucleotide variant Benign rs16840275 GRCh38 Chromosome 2, 203868017: 203868017
24 CTLA4 NM_005214.5(CTLA4): c.75G> C (p.Leu25=) single nucleotide variant Benign rs16840275 GRCh37 Chromosome 2, 204732740: 204732740
25 CTLA4 NM_005214.5(CTLA4): c.567+1G> A single nucleotide variant Uncertain significance rs1553657487 GRCh37 Chromosome 2, 204736211: 204736211
26 CTLA4 NM_005214.5(CTLA4): c.567+1G> A single nucleotide variant Uncertain significance rs1553657487 GRCh38 Chromosome 2, 203871488: 203871488
27 CTLA4 NM_005214.5(CTLA4): c.374G> A (p.Gly125Glu) single nucleotide variant Uncertain significance rs1553657428 GRCh37 Chromosome 2, 204735573: 204735573
28 CTLA4 NM_005214.5(CTLA4): c.374G> A (p.Gly125Glu) single nucleotide variant Uncertain significance rs1553657428 GRCh38 Chromosome 2, 203870850: 203870850
29 CTLA4 NM_001037631.3(CTLA4): c.412C> A (p.Pro138Thr) single nucleotide variant Pathogenic rs1553657430 GRCh37 Chromosome 2, 204735611: 204735611
30 CTLA4 NM_001037631.3(CTLA4): c.412C> A (p.Pro138Thr) single nucleotide variant Pathogenic rs1553657430 GRCh38 Chromosome 2, 203870888: 203870888
31 CTLA4 NM_005214.5(CTLA4): c.326G> A (p.Gly109Glu) single nucleotide variant Uncertain significance rs144988077 GRCh37 Chromosome 2, 204735525: 204735525
32 CTLA4 NM_005214.5(CTLA4): c.326G> A (p.Gly109Glu) single nucleotide variant Uncertain significance rs144988077 GRCh38 Chromosome 2, 203870802: 203870802
33 CTLA4 NM_005214.5(CTLA4): c.373G> A (p.Gly125Arg) single nucleotide variant Uncertain significance rs1553657427 GRCh38 Chromosome 2, 203870849: 203870849
34 CTLA4 NM_005214.5(CTLA4): c.373G> A (p.Gly125Arg) single nucleotide variant Uncertain significance rs1553657427 GRCh37 Chromosome 2, 204735572: 204735572
35 CTLA4 NM_005214.5(CTLA4): c.4G> T (p.Ala2Ser) single nucleotide variant Uncertain significance rs767352102 GRCh38 Chromosome 2, 203867946: 203867946
36 CTLA4 NM_005214.5(CTLA4): c.4G> T (p.Ala2Ser) single nucleotide variant Uncertain significance rs767352102 GRCh37 Chromosome 2, 204732669: 204732669
37 CTLA4 NM_005214.5(CTLA4): c.372G> A (p.Thr124=) single nucleotide variant Likely benign rs372929906 GRCh38 Chromosome 2, 203870848: 203870848
38 CTLA4 NM_005214.5(CTLA4): c.372G> A (p.Thr124=) single nucleotide variant Likely benign rs372929906 GRCh37 Chromosome 2, 204735571: 204735571
39 CTLA4 NM_005214.5(CTLA4): c.565A> G (p.Met189Val) single nucleotide variant Uncertain significance rs199912925 GRCh38 Chromosome 2, 203871485: 203871485
40 CTLA4 NM_005214.5(CTLA4): c.565A> G (p.Met189Val) single nucleotide variant Uncertain significance rs199912925 GRCh37 Chromosome 2, 204736208: 204736208
41 CTLA4 NM_005214.5(CTLA4): c.457+4A> G single nucleotide variant Uncertain significance rs1553657438 GRCh37 Chromosome 2, 204735660: 204735660
42 CTLA4 NM_005214.5(CTLA4): c.457+4A> G single nucleotide variant Uncertain significance rs1553657438 GRCh38 Chromosome 2, 203870937: 203870937
43 CTLA4 NM_005214.5(CTLA4): c.110_118del (p.Ala37_His39del) deletion Uncertain significance GRCh38 Chromosome 2, 203870586: 203870594
44 CTLA4 NM_005214.5(CTLA4): c.110_118del (p.Ala37_His39del) deletion Uncertain significance GRCh37 Chromosome 2, 204735309: 204735317
45 CTLA4 NM_005214.5(CTLA4): c.268A> G (p.Met90Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 203870744: 203870744
46 CTLA4 NM_005214.5(CTLA4): c.268A> G (p.Met90Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 204735467: 204735467
47 CTLA4 NM_005214.5(CTLA4): c.422T> C (p.Leu141Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 203870898: 203870898
48 CTLA4 NM_005214.5(CTLA4): c.422T> C (p.Leu141Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 204735621: 204735621
49 CTLA4 NM_005214.5(CTLA4): c.211del (p.Val71Terfs) deletion Pathogenic GRCh37 Chromosome 2, 204735410: 204735410
50 CTLA4 NM_005214.5(CTLA4): c.211del (p.Val71Terfs) deletion Pathogenic GRCh38 Chromosome 2, 203870687: 203870687

Expression for Autoimmune Lymphoproliferative Syndrome, Type V

Search GEO for disease gene expression data for Autoimmune Lymphoproliferative Syndrome, Type V.

Pathways for Autoimmune Lymphoproliferative Syndrome, Type V

GO Terms for Autoimmune Lymphoproliferative Syndrome, Type V

Biological processes related to Autoimmune Lymphoproliferative Syndrome, Type V according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 humoral immune response GO:0006959 9.32 BCL2 SH2D1A
2 T cell costimulation GO:0031295 9.26 CD5 CTLA4
3 regulation of apoptotic process GO:0042981 9.26 ALK BCL2 BCL6 FAS
4 positive regulation of B cell proliferation GO:0030890 9.16 BCL2 BCL6
5 negative regulation of apoptotic process GO:0043066 8.92 BCL2 BCL6 FAS TCL1A

Molecular functions related to Autoimmune Lymphoproliferative Syndrome, Type V according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 ALK BCL2 BCL6 FAS TCL1A
2 transmembrane signaling receptor activity GO:0004888 8.96 CD5 FAS

Sources for Autoimmune Lymphoproliferative Syndrome, Type V

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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46 MESH via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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