ALPS1A
MCID: ATM006
MIFTS: 71

Autoimmune Lymphoproliferative Syndrome (ALPS1A) malady

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

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome

Aliases & Descriptions for Autoimmune Lymphoproliferative Syndrome:

Name: Autoimmune Lymphoproliferative Syndrome 54 12 23 50 24 25 56 29 52 42 14 69
Canale-Smith Syndrome 12 23 50 24 25 56 66
Alps 12 23 50 24 25 56
Autoimmune Lymphoproliferative Syndrome, Type Ia 54 24 13 69
Autoimmune Lymphoproliferative Syndrome, Type Ib 54 24 69
Autoimmune Lymphoproliferative Syndrome Type Ia 66 29
Autoimmune Lymphoproliferative Syndrome Type Ib 66 29
Fas Deficiency 50 56
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant 50
Autoimmune Lymphoproliferative Syndrome 1a 66
Autoimmune Lymphoproliferative Syndrome 1b 66
Alps 1a 24
Alps Ia 24
Alps 1b 24
Alps Ib 24
Alps1a 66
Alps1b 66
Css 66

Characteristics:

Orphanet epidemiological data:

56
autoimmune lymphoproliferative syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

GeneReviews:

23
autoimmune lymphoproliferative syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Alps-fas. a distinction needs to be made between the penetrance of the cellular phenotype (defective fas-mediated apoptosis) and the penetrance of the clinical phenotype (i.e., alps)...

Classifications:



External Ids:

OMIM 54 601859
Disease Ontology 12 DOID:6688
ICD10 33 D47.9 D89.82
ICD9CM 35 279.41
MeSH 42 D056735
NCIt 47 C37864
SNOMED-CT 64 702444009
Orphanet 56 ORPHA3261
MESH via Orphanet 43 D056735
UMLS via Orphanet 70 C1328840
ICD10 via Orphanet 34 D47.9
UMLS 69 C1328840

Summaries for Autoimmune Lymphoproliferative Syndrome

NIH Rare Diseases : 50 autoimmune lymphoproliferative syndrome (alps) is a disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). this results in the overproduction of lymphocytes, which build up and cause enlargement of the lymph nodes, liver and spleen. affected individuals have an increased risk of developing cancer of the immune system cells (lymphoma) and may be at increased risk for other cancers. they can also have a variety of autoimmune disorders, most of which damage the blood cells. some of the autoimmune disorders associated with alps can also damage the kidneys, liver, eyes, nerves, or connective tissues. other signs and symptoms may include skin rashes, panniculitis, arthritis, inflammation of blood vessels (vasculitis), mouth sores, premature ovarian failure, and the development of neurological damage. alps is caused by mutations in the fas gene in about 75% of cases. it is usually inherited in an autosomal dominant manner, although a small number of cases are inherited in an autosomal recessive manner. some cases are also believed to arise from a mutation in the lymphocytes that is not inherited, but instead occurs during the course of an individual's lifetime. this type of alteration is called a somatic mutation. treatment may include steroids or other medications, blood transfusions, and/or splenectomy depending on the severity of the disorder. last updated: 8/16/2016

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, also known as canale-smith syndrome, is related to hepatitis and autoimmune lymphoproliferative syndrome, type ii, and has symptoms including splenomegaly, hepatomegaly and iron deficiency anemia. An important gene associated with Autoimmune Lymphoproliferative Syndrome is FASLG (Fas Ligand), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. The drugs Azathioprine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include spleen, liver and lymph node, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and hematopoietic system

Disease Ontology : 12 A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.

Genetics Home Reference : 25 Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly).

OMIM : 54 Autoimmune lymphoproliferative syndrome is a heritable disorder of apoptosis, resulting in the accumulation of... (601859) more...

UniProtKB/Swiss-Prot : 66 Autoimmune lymphoproliferative syndrome 1A: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.

Wikipedia : 71 Autoimmune lymphoproliferative syndrome (ALPS), also known as Canale-Smith syndrome, is a form of... more...

GeneReviews: NBK1108

Related Diseases for Autoimmune Lymphoproliferative Syndrome

Diseases in the Lymphoproliferative Syndrome family:

Autoimmune Lymphoproliferative Syndrome, Type V Autoimmune Lymphoproliferative Syndrome, Type Iii
Lymphoproliferative Syndrome 1 Autoimmune Lymphoproliferative Syndrome
Lymphoproliferative Syndrome 2 Autoimmune Lymphoproliferative Syndrome, Type Iib
Autoimmune Lymphoproliferative Syndrome, Type Ii Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency
Casp10-Related Autoimmune Lymphoproliferative Syndrome Fas-Related Autoimmune Lymphoproliferative Syndrome
Faslg-Related Autoimmune Lymphoproliferative Syndrome Prkcd-Related Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome, Type 0 Autosomal Recessive Lymphoproliferative Disease

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

(show top 50) (show all 114)
id Related Disease Score Top Affiliating Genes
1 hepatitis 29.7 CTLA4 IL10 IL2
2 autoimmune lymphoproliferative syndrome, type ii 12.5
3 autoimmune lymphoproliferative syndrome, type iii 12.4
4 autoimmune lymphoproliferative syndrome, type iib 12.3
5 autoimmune lymphoproliferative syndrome, type v 12.3
6 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency 12.0
7 prkcd-related autoimmune lymphoproliferative syndrome 12.0
8 casp10-related autoimmune lymphoproliferative syndrome 11.9
9 fas-related autoimmune lymphoproliferative syndrome 11.9
10 faslg-related autoimmune lymphoproliferative syndrome 11.9
11 autoimmune lymphoproliferative syndrome, type 0 11.9
12 ras-associated autoimmune leukoproliferative disorder 11.8
13 eosinophilic granulomatosis with polyangiitis 11.4
14 churg-strauss syndrome 11.2
15 dianzani autoimmune lymphoproliferative disease 11.2
16 coffin-siris syndrome 11.0
17 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovasuclar malformations 10.9
18 allergic angiitis 10.8
19 lymphoproliferative syndrome 10.8
20 hereditary motor and sensory neuropathy, okinawa type 10.3 CASP10 FASLG PRKCD
21 pseudo-meigs syndrome 10.3 FAS FASLG IL10
22 primary ciliary dyskinesia 10.2 CASP8 FADD IL10
23 vaginal yolk sac tumor 10.2 CTLA4 HRAS NRAS
24 retroperitoneal leiomyosarcoma 10.2 CTLA4 HRAS NRAS
25 immunoglobulin g deficiency 10.2 FASLG IL10 IL2RA
26 newcastle disease 10.2 CASP10 FAS IL2
27 chronic thromboembolic pulmonary hypertension 10.2 CTLA4 IL10 IL2
28 non-amyloid monoclonal immunoglobulin deposition disease 10.2 FAS IL2RA
29 severe combined immunodeficiency, t cell-negative, b-cell/natural killer-cell positive 10.2 IL10 IL2 IL2RA
30 abnormal retinal correspondence 10.2 CTLA4 IL10 IL2
31 cyclosporiasis 10.2 IL10 IL2 IL2RA
32 mental retardation, autosomal dominant 6 10.2 KRAS NRAS PRKCD
33 lymphoma 10.1
34 autoimmune hemolytic anemia 10.1 CTLA4 FASLG IL2
35 hereditary ataxia 10.1 FAS IL10 IL2RA UNC13D
36 hyperaldosteronism, familial, type ii 10.1 FASLG IL2 IL2RA
37 malignant skin fibrous histiocytoma 10.1 HRAS KRAS
38 erythrocyte lactate transporter defect 10.1 HRAS KRAS NRAS
39 melanocytic nevus syndrome, congenital, somatic 10.1 HRAS KRAS NRAS
40 mansonelliasis 10.1 CTLA4 IL10 IL2
41 adenylosuccinase lyase deficiency 10.1 FASLG IL2 STAT3
42 myiasis 10.1 IL10 IL2 IL2RA
43 periodontosis 10.1 CTLA4 FASLG IL2 IL2RA
44 articulation disorder 10.1 CTLA4 FAS IL10 IL2
45 ossifying fibromyxoid tumor 10.1 HRAS KRAS NRAS
46 heart conduction disease 10.1 IL10 IL2 IL2RA
47 carnitine-acylcarnitine translocase deficiency 10.1 CASP10 FAS IL2 PTPRC
48 acute myeloid leukemia with recurrent genetic anomaly 10.1 FASLG IL10 IL2 IL2RA
49 spongiotic dermatitis 10.1 HRAS KRAS NRAS
50 causalgia 10.1 IL10 IL2 IL2RA

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



Diseases related to Autoimmune Lymphoproliferative Syndrome

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome

Symptoms by clinical synopsis from OMIM:

601859

Clinical features from OMIM:

601859

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome:

32 (show all 26)
id Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 iron deficiency anemia 32 HP:0001891
4 urticaria 32 HP:0001025
5 vasculitis 32 HP:0002633
6 eosinophilia 32 HP:0001880
7 autoimmune hemolytic anemia 32 HP:0001890
8 autoimmune thrombocytopenia 32 HP:0001973
9 autoimmune neutropenia 32 HP:0001904
10 antinuclear antibody positivity 32 HP:0003493
11 increased igm level 32 HP:0003496
12 increased iga level 32 HP:0003261
13 antiphospholipid antibody positivity 32 HP:0003613
14 follicular hyperplasia 32 HP:0002729
15 chronic noninfectious lymphadenopathy 32 HP:0002730
16 increased igg level 32 HP:0003237
17 rheumatoid factor positive 32 HP:0002923
18 coombs-positive hemolytic anemia 32 HP:0004844
19 platelet antibody positive 32 HP:0003454
20 reduced delayed hypersensitivity 32 HP:0002972
21 decreased lymphocyte apoptosis 32 HP:0002731
22 increased number of peripheral cd3+ t cells 32 HP:0002845
23 increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors 32 HP:0002851
24 increased proportion of hla dr+ and cd57+ t cells 32 HP:0002853
25 smooth muscle antibody positivity 32 HP:0003262
26 antineutrophil antibody positivity 32 HP:0003453

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.78 IL2 IL2RA BCL2L11 CASP8 FADD FAS
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.78 IL2 IL2RA BCL2L11 CASP8 FADD FAS

MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome:

44 (show all 21)
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.48 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
2 homeostasis/metabolism MP:0005376 10.47 KRAS NRAS PRKCD PTPRC SPP1 STAT3
3 immune system MP:0005387 10.45 FASLG IL10 IL2 IL2RA KRAS LRBA
4 cardiovascular system MP:0005385 10.44 KRAS NRAS PRKCD SPP1 STAT3 BCL2L11
5 endocrine/exocrine gland MP:0005379 10.44 IL2RA KRAS NRAS PRKCD PTPRC STAT3
6 cellular MP:0005384 10.4 IL10 IL2 KRAS NRAS PRKCD PTPRC
7 growth/size/body region MP:0005378 10.4 FAS HRAS IL10 IL2 IL2RA KRAS
8 mortality/aging MP:0010768 10.38 CTLA4 FADD FAS FASLG HRAS IL10
9 digestive/alimentary MP:0005381 10.32 KRAS NRAS PTPRC STAT3 CTLA4 FADD
10 liver/biliary system MP:0005370 10.31 IL2 KRAS NRAS PRKCD PTPRC SPP1
11 integument MP:0010771 10.25 BCL2L11 CASP8 CTLA4 FAS FASLG HRAS
12 nervous system MP:0003631 10.25 BCL2L11 CASP8 FADD FAS FASLG HRAS
13 neoplasm MP:0002006 10.23 IL10 IL2 KRAS NRAS PTPRC SPP1
14 craniofacial MP:0005382 10.13 IL10 KRAS NRAS SPP1 STAT3 FAS
15 normal MP:0002873 10.07 BCL2L11 CTLA4 FAS FASLG HRAS IL10
16 no phenotypic analysis MP:0003012 10.01 BCL2L11 FADD HRAS IL10 IL2 KRAS
17 renal/urinary system MP:0005367 9.96 BCL2L11 CASP8 FAS FASLG HRAS KRAS
18 respiratory system MP:0005388 9.93 CASP8 CTLA4 FAS FASLG HRAS IL10
19 skeleton MP:0005390 9.73 CTLA4 FADD FAS FASLG HRAS IL10
20 pigmentation MP:0001186 9.72 BCL2L11 CTLA4 FAS KRAS NRAS
21 vision/eye MP:0005391 9.23 FAS FASLG IL10 IL2 IL2RA KRAS

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome

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

(show top 50) (show all 99)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azathioprine Approved Phase 4,Phase 3,Early Phase 1 446-86-6 2265
2
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 50-18-0, 6055-19-2 2907
3
Methotrexate Approved Phase 4,Phase 2 1959-05-2, 59-05-2 126941
4
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 4,Phase 2 50-24-8 5755
6
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2 53-03-2 5865
7
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 2 128794-94-5 5281078
8
Mycophenolic acid Approved Phase 4,Phase 2 24280-93-1 446541
9
rituximab Approved Phase 4,Phase 3,Phase 2,Early Phase 1 174722-31-7 10201696
10
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1 59-30-3 6037
11
leucovorin Approved, Nutraceutical Phase 4,Phase 2,Phase 1 58-05-9 54575, 6560146 143
12 Alkylating Agents Phase 4,Phase 3,Phase 2
13 Antimetabolites Phase 4,Phase 3,Phase 2
14 Antimetabolites, Antineoplastic Phase 4,Phase 3,Phase 2
15 Antineoplastic Agents, Alkylating Phase 4,Phase 3,Phase 2
16 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Phase 1
17 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
18 Antiemetics Phase 4,Phase 3
19 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Phase 1
20 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 2
21 Autonomic Agents Phase 4,Phase 3
22 Dermatologic Agents Phase 4,Phase 2,Phase 1
23 Folic Acid Antagonists Phase 4,Phase 2,Phase 1
24 Gastrointestinal Agents Phase 4,Phase 3,Phase 1,Phase 2
25 glucocorticoids Phase 4,Phase 3,Phase 2
26 Hormone Antagonists Phase 4,Phase 3,Phase 2
27 Hormones Phase 4,Phase 3,Phase 2
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2
29 Methylprednisolone acetate Phase 4,Phase 2
30 Methylprednisolone Hemisuccinate Phase 4,Phase 2
31 Neuroprotective Agents Phase 4
32 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2
33 Peripheral Nervous System Agents Phase 4,Phase 3
34 Prednisolone acetate Phase 4,Phase 2
35 Prednisolone hemisuccinate Phase 4,Phase 2
36 Prednisolone phosphate Phase 4,Phase 2
37 Protective Agents Phase 4
38 Vitamin B Complex Phase 4,Phase 2,Phase 1
39 Anti-Bacterial Agents Phase 4,Phase 2,Phase 1
40 Antibiotics, Antitubercular Phase 4,Phase 2,Phase 1
41 Folate Nutraceutical Phase 4,Phase 2,Phase 1
42 Vitamin B9 Nutraceutical Phase 4,Phase 2,Phase 1
43
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
44 BB 1101 Phase 3
45 Dexamethasone 21-phosphate Phase 3
46 Dexamethasone acetate Phase 3 1177-87-3
47 HIV Protease Inhibitors Phase 3
48
protease inhibitors Phase 3
49
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
50
Valproic Acid Approved, Investigational Phase 1, Phase 2 99-66-1 3121

Interventional clinical trials:

(show all 50)
id Name Status NCT ID Phase
1 CHUSPAN SCS BP Treatment of Churg–Strauss Syndrome Without Poor-Prognosis Factors Unknown status NCT00399399 Phase 4
2 Treatment of Necrotizing Vasculitides for Patients Older Than 65 Years Completed NCT00307671 Phase 4
3 Maintenance of Remission With Rituximab Versus Azathioprine for Newly-diagnosed or Relapsing Eosinophilic Granulomatosis With Polyangiitis. Not yet recruiting NCT03164473 Phase 4
4 Association Corticosteroid/Azathioprine in Microscopic Polyangiitis/ Polyarteritis Nodosa or Eosinophilic Granulomatosis With Polyangiitis (Churg Strauss Syndrome) Completed NCT00647166 Phase 3
5 A Study to Investigate Mepolizumab in the Treatment of Eosinophilic Granulomatosis With Polyangiitis Completed NCT02020889 Phase 3
6 Prednisone or Dexamethasone in Newly Diagnosed, Previously Untreated Primary Immune Thrombocytopenic Purpura Completed NCT00657410 Phase 3
7 Rituximab in Eosinophilic Granulomatosis With Polyangiitis Recruiting NCT02807103 Phase 3
8 Cyclophosphamide Versus Methotrexate for Remission Maintenance in Systemic Necrotizing Vasculitides Unknown status NCT00751517 Phase 2
9 Valproic Acid (Depakote[Registered Trademark]) to Treat Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00605657 Phase 1, Phase 2
10 Mepolizumab As a Steroid-sparing Treatment Option in the Churg Strauss Syndrome Completed NCT00527566 Phase 1, Phase 2
11 Safety and Efficacy Study of Mepolizumab in Churg Strauss Syndrome Completed NCT00716651 Phase 2
12 Anti-Interleukin-5 (IL-5) Study for Hypereosinophilic Syndrome Completed NCT00266565 Phase 1, Phase 2
13 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2
14 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
15 Pilot Trial of Allogeneic Blood or Marrow Transplanation for Primary Immunodeficiencies Recruiting NCT02579967 Phase 2
16 Benralizumab in the Treatment of Eosinophilic Granulomatosis With Polyangiitis (EGPA) Study Recruiting NCT03010436 Phase 2
17 Sirolimus for Autoimmune Disease of Blood Cells Active, not recruiting NCT00392951 Phase 1, Phase 2
18 Reslizumab in the Treatment of Eosinophilic Granulomatosis With Polyangiitis (EGPA) Study Not yet recruiting NCT02947945 Phase 2
19 Rituxan in Churg Strauss Syndrome With Renal Involvement Terminated NCT00424749 Phase 2
20 Infliximab to Treat Crohn'S-like Inflammatory Bowel Disease in Chronic Granulomatous Disease Terminated NCT00325078 Phase 1, Phase 2
21 Safety Study of Anti LewisY Chimeric Antigen Receptor in Myeloma, Acute Myeloid Leukemia or Myelodysplastic Syndrome Unknown status NCT01716364 Phase 1
22 Pyrimethamine and Sulfadoxine for Treatment of Autoimmune Lymphoproliferative Syndrome Completed NCT00013689 Phase 1
23 Pyrimethamine to Treat Autoimmune Lymphoproliferative Syndrome Completed NCT00065390 Phase 1
24 Ipilimumab After Allogeneic Stem Cell Transplant in Treating Patients With Persistent or Progressive Cancer Completed NCT00060372 Phase 1
25 Autologous Peripheral Blood Stem Cell Transplantation in Patients With Life Threatening Autoimmune Diseases Unknown status NCT00006055
26 PRO Development for ANCA Associated Vasculitis Unknown status NCT01729624
27 Fluorodeoxyglucose-Positron Emission Tomography (FDG-PET) to Evaluate Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-associated Lymphoma Completed NCT00068146
28 Educational Needs of Patients With Systemic Vasculitis Completed NCT02190929
29 RATTRAP: Infliximab Versus Rituximab in Systemic Necrotizing Vasculitides Completed NCT00307593
30 Vasculitis Illness Perception (VIP) Study Completed NCT02190916
31 Reproductive Health in Men and Women With Vasculitis Completed NCT02176070
32 The ANCA Vasculitis Questionnaire (AAV-PRO©) Completed NCT02507024
33 Study of Autoimmune Lymphoproliferative Syndrome (ALPS) Recruiting NCT00001350
34 VCRC Tissue Repository Recruiting NCT02967068
35 Pediatric Vasculitis Initiative Recruiting NCT02006134
36 Eosinophilic Granulomatosis With Polyangiitis Cohort Recruiting NCT03036670
37 Bone Marrow and Kidney Transplant for Patients With Chronic Kidney Disease and Blood Disorders Recruiting NCT01758042
38 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) Diagnostic and Classification Criteria for Primary Systemic Vasculitis Recruiting NCT01066208
39 One-Time DNA Study for Vasculitis Recruiting NCT01241305
40 Determining Disease Activity Biomarkers in Individuals With Eosinophilic Granulomatosis With Polyangiitis (Churg-Strauss) Recruiting NCT00315380
41 Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995 Recruiting NCT02116764
42 Non-Invasive Assessment of Atherosclerosis in Patients With CGD and Other Disorders of the Immune System Recruiting NCT01063309
43 Patients Treated for Chronic Granulomatous Disease (CGD) Since 1995 Recruiting NCT02082353
44 Vasculitis Pregnancy Registry Recruiting NCT02593565
45 Clinical Transcriptomics in Systemic Vasculitis (CUTIS) Recruiting NCT03004326
46 Investigation of Immune Disorders and Deficiencies Active, not recruiting NCT01981785
47 Comparative Autoantibody and Immunologic Cell Marker Study Enrolling by invitation NCT02422875
48 VCRC Patient Contact Registry Patient-Reported Data Validation Study Enrolling by invitation NCT02190942
49 Immuno-ablation With Chemoimmunoradiation and Autologous Stem Cell Transplant for Churg-Strauss Syndrome Not yet recruiting NCT02728271 Early Phase 1
50 Fluorodeoxyglucose Imaging Studies to Detect Lymphoma Withdrawn NCT01672918

Search NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome

Cochrane evidence based reviews: autoimmune lymphoproliferative syndrome

Genetic Tests for Autoimmune Lymphoproliferative Syndrome

Genetic tests related to Autoimmune Lymphoproliferative Syndrome:

id Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome 29 24 FASLG
2 Autoimmune Lymphoproliferative Syndrome, Type 1b 29
3 Autoimmune Lymphoproliferative Syndrome, Type 1a 29
4 Autoimmune Lymphoproliferative Syndrome, Type Ia 24
5 Autoimmune Lymphoproliferative Syndrome, Type Ib 24

Anatomical Context for Autoimmune Lymphoproliferative Syndrome

MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome:

39
Spleen, Liver, Lymph Node, T Cells, Skin, Eye, Kidney

Publications for Autoimmune Lymphoproliferative Syndrome

Articles related to Autoimmune Lymphoproliferative Syndrome:

(show top 50) (show all 194)
id Title Authors Year
1
IgG4-related disease in autoimmune lymphoproliferative syndrome. ( 28478106 )
2017
2
Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression. ( 28087326 )
2017
3
Use of Sirolimus (Rapamycin) for Treatment of Cytopenias and Lymphoproliferation Linked to Autoimmune Lymphoproliferative Syndrome (ALPS). Two Case Reports. ( 28234735 )
2017
4
A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. ( 27770190 )
2017
5
TCF1 deficiency ameliorates autoimmune lymphoproliferative syndrome (ALPS)-like phenotypes of lpr/lpr mice. ( 28349581 )
2017
6
Erratum to: A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. ( 28101633 )
2017
7
Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS). ( 27060458 )
2016
8
Abnormal thymic maturation and lymphoproliferation in MRL-Faslpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome. ( 27837196 )
2016
9
Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation. ( 27846610 )
2016
10
Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort. ( 27268092 )
2016
11
Ocular Inflammatory Disorders in Autoimmune Lymphoproliferative Syndrome (ALPS). ( 27229379 )
2016
12
CORRIGENDUM to Abnormal thymic maturation and lymphoproliferation in MRL-Faslpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome. ( 27940897 )
2016
13
Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient. ( 27979843 )
2016
14
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome. ( 27099149 )
2016
15
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome. ( 27789675 )
2016
16
Optimal Management of Autoimmune Lymphoproliferative Syndrome in Children. ( 27139496 )
2016
17
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome. ( 26907631 )
2016
18
Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. ( 27845235 )
2016
19
Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation. ( 27378136 )
2016
20
Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation. ( 26323380 )
2016
21
Autoimmune Lymphoproliferative Syndrome: A Rare Cause of Disappearing HDL Syndrome. ( 27579193 )
2016
22
Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 25663566 )
2015
23
Decreased activation-induced cell death by EBV-transformed B cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. ( 26334989 )
2015
24
Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation. ( 25931386 )
2015
25
Janus Kinase Inhibitor Tofacitinib Shows Potent Efficacy in a Mouse Model of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 26453583 )
2015
26
FAS Haploinsufficiency Caused by Extracellular Missense Mutations Underlying Autoimmune Lymphoproliferative Syndrome. ( 26563159 )
2015
27
Adult onset autoimmune lymphoproliferative syndrome due to somatic FAS mutation. ( 25827517 )
2015
28
Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome. ( 26258116 )
2015
29
Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease. ( 26113417 )
2015
30
Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome. ( 26472737 )
2015
31
Autoimmune Lymphoproliferative Syndrome with Red Cell Aplasia. ( 25972287 )
2015
32
Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. ( 26456038 )
2015
33
A novel homozygous Fas ligand mutation leads to early protein truncation, abrogation of death receptor and reverse signaling and a severe form of the autoimmune lymphoproliferative syndrome. ( 25451160 )
2014
34
Autoimmune lymphoproliferative syndrome in pregnancy: A case of favorable mother-fetal outcome in a well-controlled disease. ( 25302402 )
2014
35
Autoimmune lymphoproliferative syndrome: an update and review of the literature. ( 25086580 )
2014
36
IL-10/Janus kinase/signal transducer and activator ofA transcription 3 signaling dysregulates Bim expression inA autoimmune lymphoproliferative syndrome. ( 25174872 )
2014
37
Association of severe myoclonic epilepsy of infancy (SMEI) with probable autoimmune lymphoproliferative syndrome-variant. ( 25669891 )
2014
38
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. ( 24398331 )
2014
39
Autoimmune lymphoproliferative syndrome with neonatal onset. ( 24906264 )
2014
40
Autoimmune Lymphoproliferative Syndrome and Epstein-Barr Virus-Associated Lymphoma: An Adjunctive Diagnostic Role for Monitoring EBV Viremia? ( 25374737 )
2013
41
Autoimmune lymphoproliferative syndrome and non-Hodgkin lymphoma: What (18)F-fluorodeoxyglucose positron emission tomography/computed tomography can do in the management of these patients? Suggestions from a case report. ( 23845452 )
2013
42
Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome. ( 23840885 )
2013
43
Investigation of common variable immunodeficiency patients and healthy individuals using autoimmune lymphoproliferative syndrome biomarkers. ( 23993982 )
2013
44
Tubulointerstitial nephritis in a patient with probable autoimmune lymphoproliferative syndrome. ( 23588339 )
2013
45
Forced miR-146a expression causes autoimmune lymphoproliferative syndrome in mice via downregulation of Fas in germinal center B cells. ( 23645835 )
2013
46
Erythematous rash following romiplostim administration in a patient with autoimmune lymphoproliferative syndrome. ( 23300150 )
2013
47
Diagnosis of autoimmune lymphoproliferative syndrome caused by FAS deficiency in adults. ( 22983577 )
2013
48
Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation. ( 22857792 )
2013
49
Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis. ( 24101757 )
2013
50
Somatic loss of heterozygosity, but not haploinsufficiency alone, leads to full-blown autoimmune lymphoproliferative syndrome in 1 of 12 family members with FAS start codon mutation. ( 23524443 )
2013

Variations for Autoimmune Lymphoproliferative Syndrome

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

66 (show all 23)
id Symbol AA change Variation ID SNP ID
1 FASLG p.Cys202Ser VAR_075568
2 FAS p.Thr28Ala VAR_013417
3 FAS p.Cys82Arg VAR_013418
4 FAS p.Arg121Trp VAR_013419 rs121913078
5 FAS p.Tyr232Cys VAR_013423 rs121913079
6 FAS p.Thr241Lys VAR_013424 rs201072885
7 FAS p.Thr241Pro VAR_013425 rs121913076
8 FAS p.Arg250Pro VAR_013426 rs121913080
9 FAS p.Arg250Gln VAR_013427
10 FAS p.Ala257Asp VAR_013428
11 FAS p.Asp260Gly VAR_013429
12 FAS p.Asp260Tyr VAR_013430 rs121913086
13 FAS p.Asp260Val VAR_013431 rs28929498
14 FAS p.Thr270Ile VAR_013433 rs121913081
15 FAS p.Glu272Gly VAR_013434
16 FAS p.Glu272Lys VAR_013435
17 FAS p.Ile310Ser VAR_013438
18 FAS p.Ile262Ser VAR_058910
19 FAS p.Val249Leu VAR_065128
20 FAS p.Gly253Asp VAR_065129
21 FAS p.Gly253Ser VAR_065130
22 FAS p.Ile259Arg VAR_065131
23 FAS p.Thr270Lys VAR_065132

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 FASLG NM_000639.2(FASLG): c.472_555del84 (p.Met158_Glu185del) deletion Pathogenic rs80358236 GRCh37 Chromosome 1, 172634782: 172634865
2 FAS NM_000043.5(FAS): c.232delG (p.Asp78Metfs) deletion Pathogenic rs606231361 GRCh38 Chromosome 10, 89007735: 89007735
3 FAS NM_000043.5(FAS): c.334+2dupT duplication Pathogenic rs606231362 GRCh38 Chromosome 10, 89007839: 89007839
4 FAS NM_000043.5(FAS): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic rs121913076 GRCh37 Chromosome 10, 90773920: 90773920
5 FAS NM_000043.5(FAS): c.569-2A> C single nucleotide variant Pathogenic rs606231363 GRCh38 Chromosome 10, 89011997: 89011997
6 FAS NM_000043.5(FAS): c.817C> T (p.Gln273Ter) single nucleotide variant Pathogenic rs121913077 GRCh37 Chromosome 10, 90774016: 90774016
7 FAS NM_000043.5(FAS): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic rs121913078 GRCh37 Chromosome 10, 90768672: 90768672
8 FAS NM_000043.5(FAS): c.695A> G (p.Tyr232Cys) single nucleotide variant Pathogenic rs121913079 GRCh37 Chromosome 10, 90773894: 90773894
9 FAS NM_000043.5(FAS): c.779A> T (p.Asp260Val) single nucleotide variant Pathogenic rs28929498 GRCh37 Chromosome 10, 90773978: 90773978
10 FAS NM_000043.5(FAS): c.749G> C (p.Arg250Pro) single nucleotide variant Pathogenic rs121913080 GRCh37 Chromosome 10, 90773948: 90773948
11 FAS NM_000043.5(FAS): c.809C> T (p.Thr270Ile) single nucleotide variant Pathogenic rs121913081 GRCh37 Chromosome 10, 90774008: 90774008
12 FAS NM_000043.5(FAS): c.651+2T> A single nucleotide variant Pathogenic rs267607122 GRCh37 Chromosome 10, 90771840: 90771840
13 FAS NM_000043.5(FAS): c.73G> A (p.Ala25Thr) single nucleotide variant Pathogenic rs606231364 GRCh38 Chromosome 10, 89003071: 89003071
14 FAS NM_000043.5(FAS): c.968_987dup20 (p.Glu330Lysfs) duplication Pathogenic rs606231365 GRCh38 Chromosome 10, 89014410: 89014429
15 FAS NM_000043.5(FAS): c.740G> C (p.Gly247Ala) single nucleotide variant Pathogenic rs121913085 GRCh37 Chromosome 10, 90773939: 90773939
16 FAS NM_000043.5(FAS): c.651+2T> C single nucleotide variant Pathogenic rs267607122 GRCh37 Chromosome 10, 90771840: 90771840
17 FAS NM_000043.5(FAS): c.692_693insT (p.Lys231Asnfs) insertion Pathogenic rs606231366 GRCh38 Chromosome 10, 89014134: 89014135
18 FAS NM_000043.5(FAS): c.778G> T (p.Asp260Tyr) single nucleotide variant Pathogenic rs121913086 GRCh37 Chromosome 10, 90773977: 90773977
19 FASLG NM_000639.2(FASLG): c.466A> G (p.Arg156Gly) single nucleotide variant Pathogenic rs80358238 GRCh37 Chromosome 1, 172634776: 172634776
20 FASLG NM_000639.2(FASLG): c.263delT (p.Phe88Serfs) deletion Pathogenic rs587776450 GRCh37 Chromosome 1, 172628604: 172628604

Expression for Autoimmune Lymphoproliferative Syndrome

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

Pathways for Autoimmune Lymphoproliferative Syndrome

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

(show top 50) (show all 137)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.31 BCL2L11 CASP10 CASP8 FADD FAS FASLG
2
Show member pathways
14.06 CASP10 CASP8 CTLA4 FADD FASLG HRAS
3
Show member pathways
13.95 BCL2L11 CASP10 CASP8 FADD FAS FASLG
4
Show member pathways
13.88 BCL2L11 CASP10 CASP8 FADD FAS FASLG
5
Show member pathways
13.72 CASP10 CASP8 FAS FASLG HRAS IL10
6
Show member pathways
13.46 FASLG HRAS IL10 IL2 IL2RA KRAS
7
Show member pathways
13.46 FADD FAS FASLG HRAS IL10 IL2
8
Show member pathways
13.29 HRAS IL2 IL2RA KRAS NRAS PRKCD
9
Show member pathways
13.19 HRAS IL2 IL2RA KRAS NRAS PRKCD
10
Show member pathways
13.16 HRAS IL2 IL2RA KRAS NRAS PRKCD
11
Show member pathways
13.16 CASP10 CASP8 FAS FASLG HRAS IL10
12
Show member pathways
13.13 BCL2L11 HRAS KRAS NRAS PRKCD STAT3
13
Show member pathways
13.11 CASP8 HRAS KRAS NRAS PRKCD STAT3
14
Show member pathways
13.03 CTLA4 HRAS KRAS NRAS PRKCD PTPRC
15
Show member pathways
13.01 CASP8 FADD HRAS KRAS NRAS PRKCD
16
Show member pathways
12.98 FAS FASLG HRAS KRAS NRAS PRKCD
17
Show member pathways
12.96 BCL2L11 HRAS KRAS NRAS PRKCD STAT3
18
Show member pathways
12.93 CASP8 CTLA4 FADD FAS FASLG IL10
19
Show member pathways
12.92 CASP8 FADD HRAS KRAS NRAS PRKCD
20
Show member pathways
12.92 HRAS IL2 IL2RA KRAS PRKCD STAT3
21
Show member pathways
12.9 FAS FASLG HRAS KRAS NRAS PRKCD
22
Show member pathways
12.9 CASP8 FADD FAS FASLG IL2 IL2RA
23
Show member pathways
12.87 CASP10 CASP8 FADD FAS FASLG HRAS
24
Show member pathways
12.85 BCL2L11 CASP10 CASP8 FADD FAS FASLG
25 12.81 CASP8 FAS FASLG HRAS KRAS NRAS
26
Show member pathways
12.78 HRAS KRAS NRAS PRKCD STAT3
27
Show member pathways
12.75 HRAS IL10 IL2 IL2RA PTPRC
28
Show member pathways
12.75 FAS FASLG HRAS KRAS NRAS PRKCD
29 12.75 CASP8 FADD FAS FASLG HRAS KRAS
30
Show member pathways
12.72 CASP10 CASP8 FADD FAS FASLG HRAS
31
Show member pathways
12.7 HRAS IL10 IL2 KRAS NRAS STAT3
32 12.66 BCL2L11 FASLG HRAS IL2 IL2RA KRAS
33 12.64 BCL2L11 HRAS KRAS NRAS STAT3
34
Show member pathways
12.63 FAS FASLG HRAS IL2 KRAS NRAS
35
Show member pathways
12.63 CASP10 CASP8 HRAS KRAS NRAS PRKCD
36
Show member pathways
12.61 HRAS KRAS NRAS PRKCD STAT3
37
Show member pathways
12.61 CASP10 CASP8 FADD FAS FASLG STAT3
38 12.57 CTLA4 FAS FASLG IL10 IL2 IL2RA
39
Show member pathways
12.56 CASP8 HRAS KRAS NRAS PRKCD
40 12.55 HRAS IL2 IL2RA KRAS NRAS
41
Show member pathways
12.51 CTLA4 IL2 IL2RA PRKCD PTPRC
42
Show member pathways
12.5 HRAS KRAS PRKCD STAT3
43
Show member pathways
12.5 HRAS KRAS NRAS PRKCD PTPRC
44
Show member pathways
12.49 BCL2L11 FASLG HRAS STAT3
45
Show member pathways
12.48 HRAS KRAS NRAS PRKCD STAT3
46
Show member pathways
12.47 HRAS KRAS NRAS PRKCD
47
Show member pathways
12.46 HRAS KRAS NRAS STAT3
48
Show member pathways
12.46 HRAS KRAS NRAS PRKCD
49
Show member pathways
12.46 HRAS KRAS NRAS PRKCD STAT3
50
Show member pathways
12.45 CASP10 CASP8 FADD FAS FASLG

GO Terms for Autoimmune Lymphoproliferative Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.72 CTLA4 FAS FASLG IL2RA PTPRC
2 death-inducing signaling complex GO:0031264 9.43 CASP8 FADD FAS
3 membrane raft GO:0045121 9.43 CASP8 FADD FAS FASLG KRAS PTPRC
4 ripoptosome GO:0097342 9.33 CASP10 CASP8 FADD
5 CD95 death-inducing signaling complex GO:0031265 8.92 CASP10 CASP8 FADD FAS

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

(show all 47)
id Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.97 CASP8 FAS FASLG IL10
2 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.96 CASP10 CASP8 FADD FASLG
3 positive regulation of protein phosphorylation GO:0001934 9.95 FAS HRAS IL2 KRAS
4 MAPK cascade GO:0000165 9.95 HRAS IL2 IL2RA KRAS NRAS
5 cell surface receptor signaling pathway GO:0007166 9.95 CASP10 CASP8 FADD HRAS IL2RA PTPRC
6 regulation of apoptotic process GO:0042981 9.92 BCL2L11 CASP10 CASP8 FADD FAS
7 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.91 HRAS KRAS NRAS PRKCD
8 cellular response to mechanical stimulus GO:0071260 9.87 CASP8 FADD FAS
9 response to glucocorticoid GO:0051384 9.86 FAS IL10 KRAS
10 Ras protein signal transduction GO:0007265 9.86 HRAS KRAS NRAS
11 positive regulation of T cell proliferation GO:0042102 9.85 IL2 IL2RA PTPRC
12 epidermal growth factor receptor signaling pathway GO:0007173 9.84 HRAS KRAS NRAS
13 positive regulation of interferon-gamma production GO:0032729 9.82 FADD HRAS IL2
14 execution phase of apoptosis GO:0097194 9.81 CASP10 CASP8 PRKCD
15 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.81 CASP8 FADD FAS FASLG
16 apoptotic process GO:0006915 9.81 BCL2L11 CASP10 CASP8 FADD FAS FASLG
17 ERBB2 signaling pathway GO:0038128 9.8 HRAS KRAS NRAS
18 spleen development GO:0048536 9.8 BCL2L11 FADD FAS
19 negative regulation of inflammatory response GO:0050728 9.8 IL10 IL2 IL2RA PRKCD
20 negative regulation of T cell proliferation GO:0042130 9.79 CTLA4 IL10 IL2RA
21 B cell proliferation GO:0042100 9.78 IL10 PRKCD PTPRC
22 extrinsic apoptotic signaling pathway GO:0097191 9.76 CASP8 FADD FAS FASLG
23 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.74 FADD FAS FASLG
24 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.73 CASP8 FADD FAS FASLG
25 positive regulation of activated T cell proliferation GO:0042104 9.71 FADD IL2 IL2RA
26 regulation of necroptotic process GO:0060544 9.7 CASP8 FADD
27 positive regulation of protein homooligomerization GO:0032464 9.69 BCL2L11 FAS
28 activation of cysteine-type endopeptidase activity GO:0097202 9.69 CASP8 FADD
29 response to isolation stress GO:0035900 9.68 HRAS KRAS
30 death-inducing signaling complex assembly GO:0071550 9.67 CASP8 FADD
31 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.67 BCL2L11 FADD FAS IL2
32 negative regulation of lymphocyte proliferation GO:0050672 9.66 IL2 IL2RA
33 activation-induced cell death of T cells GO:0006924 9.65 FAS IL2RA
34 apoptotic signaling pathway GO:0097190 9.65 CASP10 CASP8 FADD FAS FASLG
35 T cell homeostasis GO:0043029 9.62 BCL2L11 FADD FAS IL2RA
36 regulation of T cell homeostatic proliferation GO:0046013 9.6 IL2 IL2RA
37 motor neuron apoptotic process GO:0097049 9.59 FADD FAS
38 TRAIL-activated apoptotic signaling pathway GO:0036462 9.58 CASP8 FADD
39 inflammatory cell apoptotic process GO:0006925 9.58 FAS FASLG
40 necroptotic signaling pathway GO:0097527 9.58 FADD FAS FASLG
41 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.26 CASP8 FADD FAS FASLG
42 activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097296 8.92 CASP8 FADD FAS FASLG
43 positive regulation of cell proliferation GO:0008284 10.1 FASLG HRAS IL2 KRAS STAT3
44 neutrophil degranulation GO:0043312 10.09 NRAS PRKCD PTPRC TCN1 UNC13D
45 inflammatory response GO:0006954 10.06 FAS IL10 IL2RA SPP1 STAT3
46 positive regulation of apoptotic process GO:0043065 10.04 BCL2L11 CTLA4 FADD FAS FASLG
47 immune response GO:0006955 10.03 CTLA4 FAS FASLG IL10 IL2 IL2RA

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

id Name GO ID Score Top Affiliating Genes
1 protein complex binding GO:0032403 9.67 CASP8 FADD KRAS NRAS
2 cytokine activity GO:0005125 9.62 FASLG IL10 IL2 SPP1
3 tumor necrosis factor receptor binding GO:0005164 9.43 CASP8 FADD FASLG
4 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.4 CASP10 CASP8
5 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.16 CASP10 CASP8
6 death receptor binding GO:0005123 9.13 CASP8 FADD FASLG
7 death effector domain binding GO:0035877 8.8 CASP10 CASP8 FADD

Sources for Autoimmune Lymphoproliferative Syndrome

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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65 SNOMED-CT via Orphanet
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