ALPS
MCID: ATM006
MIFTS: 73

Autoimmune Lymphoproliferative Syndrome (ALPS)

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

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome:

Name: Autoimmune Lymphoproliferative Syndrome 57 12 24 53 25 59 29 55 6 44 15 40 72
Alps 57 12 24 53 25 59 15
Canale-Smith Syndrome 57 12 53 25 59 74
Autoimmune Lymphoproliferative Syndrome, Type Ia 57 13 72
Autoimmune Lymphoproliferative Syndrome, Type Ib 57 72
Autoimmune Lymphoproliferative Syndrome, Type 1b 29 6
Autoimmune Lymphoproliferative Syndrome, Type 1a 29 6
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant 57
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant 53
Autoimmune Lymphoproliferative Syndrome Type Ia 74
Autoimmune Lymphoproliferative Syndrome Type Ib 74
Autoimmune Lymphoproliferative Syndrome 1a 74
Autoimmune Lymphoproliferative Syndrome 1b 74
Autoimmune Lymphoproliferative Syndromes 37
Fas Deficiency 53
Alps1a 74
Alps1b 74
Css 74

Characteristics:

Orphanet epidemiological data:

59
autoimmune lymphoproliferative syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
recessive inheritance has been reported


HPO:

32
autoimmune lymphoproliferative syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
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:

Disease Ontology 12 DOID:6688
OMIM 57 601859
KEGG 37 H00108
ICD9CM 35 279.41
MeSH 44 D056735
NCIt 50 C37864
ICD10 33 D89.82
MESH via Orphanet 45 D056735
ICD10 via Orphanet 34 D47.9
UMLS via Orphanet 73 C1328840
Orphanet 59 ORPHA3261
UMLS 72 C1328840 C1866119 C1866120

Summaries for Autoimmune Lymphoproliferative Syndrome

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). Autoimmune disorders are also common in ALPS. Autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Most of the autoimmune disorders associated with ALPS target and damage blood cells. For example, the immune system may attack red blood cells (autoimmune hemolytic anemia), white blood cells (autoimmune neutropenia), or platelets (autoimmune thrombocytopenia). Less commonly, autoimmune disorders that affect other organs and tissues occur in people with ALPS. These disorders can damage the kidneys (glomerulonephritis), liver (autoimmune hepatitis), eyes (uveitis), or nerves (Guillain-Barre syndrome). Skin problems, usually rashes or hives (urticaria), can also occur in ALPS. ALPS can have varying patterns of signs and symptoms. Most commonly, lymphoproliferation becomes apparent during childhood. Enlargement of the lymph nodes and spleen frequently occur in affected individuals. Autoimmune disorders typically develop several years later, most frequently as a combination of hemolytic anemia and thrombocytopenia, also called Evans syndrome. People with this classic form of ALPS generally have a near-normal lifespan, but have a greatly increased risk of developing cancer of the immune system cells (lymphoma) compared with the general population. Some people have signs and symptoms that resemble those of ALPS, including lymphoproliferation, lymphadenopathy, splenomegaly, and low blood counts, but the specific pattern of these signs and symptoms or the genetic cause may be different. Researchers disagree whether individuals with these non-classic forms should be considered to have ALPS or a separate condition.

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, also known as alps, is related to autoimmune lymphoproliferative syndrome, type iii and lymphoproliferative syndrome. An important gene associated with Autoimmune Lymphoproliferative Syndrome is FAS (Fas Cell Surface Death Receptor), and among its related pathways/superpathways are Apoptosis and Signaling by GPCR. The drugs Amlodipine and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include t cells, lymph node and spleen, and related phenotypes are splenomegaly and chronic noninfectious lymphadenopathy

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.

NIH Rare Diseases : 53 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.

OMIM : 57 Autoimmune lymphoproliferative syndrome is a heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes. It manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias (summary by Dowdell et al., 2010). For a review of the autoimmune lymphoproliferative syndromes, see Teachey et al. (2009). (601859)

KEGG : 37
Autoimmune lymphoproliferative syndrome (ALPS) is an autosomal dominant disorder with clinical features of various autoimmune manifestations that predominantly involve polyclonal accumulation of lymphocytes in the spleen and lymph nodes with lymphadenopathy and/or splenomegaly, and expansion of double-negative (DN) T cells in the peripheral blood. Central to the cellular pathogenesis is defective FAS-induced apoptosis, which in turn leads to dysregulation of lymphocyte homeostasis. ALPS caused by heterozygous mutations in the Fas gene (ALPS Type Ia) make up the majority of identified cases. However, other mutations, namely of the FasL gene (ALPS Type Ib) and the caspase 8 and 10 gene (ALPS Type II) are occasionally detected, whereas some patients do not present any known mutations (ALPS-III). Recently, mutations of the NRAS gene have been suggested to cause ALPS Type IV.

UniProtKB/Swiss-Prot : 74 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. Autoimmune lymphoproliferative syndrome 1B: 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 : 75 Autoimmune lymphoproliferative syndrome (ALPS), is a form of lymphoproliferative disorder (LPDs). It... more...

GeneReviews: NBK1108

Related Diseases for Autoimmune 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 Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency

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

(show top 50) (show all 200)
# Related Disease Score Top Affiliating Genes
1 autoimmune lymphoproliferative syndrome, type iii 35.6 PRKCD FASLG CASP10
2 lymphoproliferative syndrome 31.6 PRKCD PRF1 NRAS IL2 FASLG FAS
3 autoimmune disease 31.5 IL2RA IL2 IL10 FAS CTLA4
4 hematopoietic stem cell transplantation 31.2 IL2 IL10 CTLA4
5 exanthem 31.1 IL2 HRAS CTLA4
6 uveitis 31.1 IL2RA IL10 CTLA4
7 immune deficiency disease 31.1 IL2RA IL2 IL10
8 lymphopenia 31.0 IL2RA IL2 FASLG FAS
9 hemophagocytic lymphohistiocytosis 31.0 UNC13D PRF1 IL2RA IL10 FAS
10 chronic active epstein-barr virus infection 30.8 IL2 IL10 CTLA4
11 intermediate uveitis 30.7 IL2RA IL2 IL10
12 graft-versus-host disease 30.5 IL2 IL10 FASLG FAS
13 alopecia areata 30.4 IL2RA IL2 FASLG CTLA4
14 common variable immunodeficiency 30.4 PRKCD LRBA IL2RA IL2 IL10 FAS
15 sarcoidosis 1 30.4 PTPRC IL2RA IL2
16 lymphoma, non-hodgkin, familial 30.3 PTPRC PRF1 NRAS IL2RA IL2 FAS
17 systemic lupus erythematosus 29.7 TNFAIP3 RASGRP1 IL2RA IL2 IL10 FASLG
18 autoimmune lymphoproliferative syndrome, type iia 12.9
19 autoimmune lymphoproliferative syndrome, type v 12.8
20 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency 12.5
21 ras-associated autoimmune leukoproliferative disorder 12.5
22 caspase 8 deficiency 12.5
23 eosinophilic granulomatosis with polyangiitis 12.1
24 coffin-siris syndrome 1 12.0
25 dianzani autoimmune lymphoproliferative disease 11.9
26 superficial siderosis 11.4
27 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 11.3
28 giant congenital nevus 10.8 NRAS HRAS
29 lrba deficiency 10.8 LRBA CTLA4
30 epstein-barr virus-associated gastric carcinoma 10.8 IL10 FASLG FAS
31 type ii mixed cryoglobulinemia 10.8 FASLG FAS
32 splenomegaly 10.8
33 thyroiditis 10.7 IL2 FASLG CTLA4
34 post-transplant lymphoproliferative disease 10.7 IL10 FADD CASP8
35 vulvar melanoma 10.7 NRAS HRAS CTLA4
36 hypersensitivity reaction type iv disease 10.7 IL2 FAS CASP10
37 pneumoconiosis 10.7 FASLG FAS CASP8
38 malignant skin fibrous histiocytoma 10.7 NRAS HRAS CTLA4
39 hyperlucent lung 10.7 IL2RA IL10
40 malignant dermis tumor 10.7 NRAS HRAS CTLA4
41 idiopathic neutropenia 10.7 IL2RA IL10 FASLG
42 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.7
43 vogt-koyanagi-harada disease 10.7 IL2RA IL10 FAS
44 paracoccidioidomycosis 10.7 IL2 IL10 CTLA4
45 hashimoto thyroiditis 10.7 IL2RA FASLG FAS CTLA4
46 benign struma ovarii 10.6 NRAS HRAS
47 multisystemic smooth muscle dysfunction syndrome 10.6 FAS ACTA2
48 b-cell expansion with nfkb and t-cell anergy 10.6 IL2RA IL2 FASLG
49 t cell deficiency 10.6 PTPRC LRBA IL2
50 filariasis 10.6 IL2 IL10 CTLA4

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



Diseases related to Autoimmune Lymphoproliferative Syndrome

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome:

59 32 (show top 50) (show all 78)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
2 chronic noninfectious lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002730
3 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
4 hypersplenism 59 32 frequent (33%) Frequent (79-30%) HP:0001971
5 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
6 autoimmune hemolytic anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001890
7 autoimmune thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001973
8 neutropenia in presence of anti-neutropil antibodies 59 32 frequent (33%) Frequent (79-30%) HP:0001904
9 elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells 59 32 frequent (33%) Frequent (79-30%) HP:0002851
10 increased b cell count 59 32 frequent (33%) Frequent (79-30%) HP:0005404
11 abnormal serum interleukin level 59 32 frequent (33%) Frequent (79-30%) HP:0030782
12 increased circulating igg level 32 frequent (33%) HP:0003237
13 hepatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0012115
14 urticaria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001025
15 thyroiditis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100646
16 reticulocytosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001923
17 vasculitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002633
18 decreased proportion of cd4-positive t cells 59 32 occasional (7.5%) Occasional (29-5%) HP:0005407
19 decreased circulating igg level 59 32 occasional (7.5%) Occasional (29-5%) HP:0004315
20 eosinophilia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001880
21 decreased circulating total igm 59 32 occasional (7.5%) Occasional (29-5%) HP:0002850
22 antineutrophil antibody positivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0003453
23 antinuclear antibody positivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0003493
24 glomerulonephritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000099
25 hodgkin lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012189
26 abnormal vitamin b12 level 59 32 occasional (7.5%) Occasional (29-5%) HP:0040126
27 t-cell lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012190
28 b-cell lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012191
29 antiphospholipid antibody positivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0003613
30 specific anti-polysaccharide antibody deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002848
31 rheumatoid factor positive 59 32 occasional (7.5%) Occasional (29-5%) HP:0002923
32 coombs-positive hemolytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0004844
33 burkitt lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0030080
34 abnormal proportion of cd4 t cells 59 32 occasional (7.5%) Occasional (29-5%) HP:0031392
35 abnormal proportion of cd8 t cells 59 32 occasional (7.5%) Occasional (29-5%) HP:0031393
36 increased circulating total ige level 32 occasional (7.5%) HP:0003212
37 increased circulating iga level 32 occasional (7.5%) HP:0003261
38 seizures 59 32 very rare (1%) Very rare (<4-1%) HP:0001250
39 arthritis 59 32 very rare (1%) Very rare (<4-1%) HP:0001369
40 renal insufficiency 59 32 very rare (1%) Very rare (<4-1%) HP:0000083
41 pulmonary fibrosis 59 32 very rare (1%) Very rare (<4-1%) HP:0002206
42 bone marrow hypocellularity 59 32 very rare (1%) Very rare (<4-1%) HP:0005528
43 pulmonary infiltrates 59 32 very rare (1%) Very rare (<4-1%) HP:0002113
44 hydrops fetalis 59 32 very rare (1%) Very rare (<4-1%) HP:0001789
45 premature ovarian insufficiency 59 32 very rare (1%) Very rare (<4-1%) HP:0008209
46 headache 59 32 very rare (1%) Very rare (<4-1%) HP:0002315
47 uveitis 59 32 very rare (1%) Very rare (<4-1%) HP:0000554
48 thyroid adenoma 59 32 very rare (1%) Very rare (<4-1%) HP:0000854
49 basal cell carcinoma 59 32 very rare (1%) Very rare (<4-1%) HP:0002671
50 thyroid carcinoma 59 32 very rare (1%) Very rare (<4-1%) HP:0002890

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
urticaria
vasculitis rash

Immunology:
chronic noninfectious lymphadenopathy
reduced delayed hypersensitivity
defective lymphocyte apoptosis
increased number of peripheral cd3+ t cells
increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors
more
Neoplasia:
increased risk of malignant lymphoma

Abdomen Liver:
hepatomegaly

Hematology:
iron deficiency anemia
eosinophilia
autoimmune hemolytic anemia
autoimmune thrombocytopenia
autoimmune neutropenia

Laboratory Abnormalities:
rheumatoid factor positive
platelet antibody positive
increased levels of igg
increased levels of iga
increased levels of igm
more

Clinical features from OMIM:

601859

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.84 CASP8 FADD FAS IL10 IL2 IL2RA
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.84 CASP8 FADD FAS IL10 IL2 IL2RA
3 Reduced mammosphere formation GR00396-S 9.5 FADD FAS FASLG HRAS IL2RA NRAS

MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.4 CASP8 CTLA4 FADD FAS FASLG HRAS
2 hematopoietic system MP:0005397 10.4 CASP8 CTLA4 FADD FAS FASLG IL10
3 cardiovascular system MP:0005385 10.37 ACTA2 CASP8 CTLA4 FADD FAS FASLG
4 immune system MP:0005387 10.36 CASP8 CTLA4 FADD FAS FASLG IL10
5 homeostasis/metabolism MP:0005376 10.35 CASP8 CTLA4 FADD FAS FASLG HRAS
6 digestive/alimentary MP:0005381 10.31 CTLA4 FADD FAS FASLG HRAS IL10
7 cellular MP:0005384 10.29 CASP8 FADD FAS FASLG IL10 IL2
8 growth/size/body region MP:0005378 10.29 CASP8 FADD FAS HRAS IL10 IL2
9 liver/biliary system MP:0005370 10.22 CASP8 CTLA4 FADD FAS FASLG IL10
10 mortality/aging MP:0010768 10.21 CASP8 CTLA4 FADD FAS FASLG HRAS
11 integument MP:0010771 10.09 CASP8 CTLA4 FAS FASLG HRAS IL10
12 neoplasm MP:0002006 9.97 CASP8 FAS FASLG HRAS IL10 IL2
13 no phenotypic analysis MP:0003012 9.8 FADD HRAS IL10 IL2 NRAS PTPRC
14 renal/urinary system MP:0005367 9.76 CASP8 FAS FASLG HRAS PRKCD PTPRC
15 respiratory system MP:0005388 9.65 CASP8 CTLA4 FAS FASLG HRAS IL10
16 skeleton MP:0005390 9.36 CTLA4 FADD FAS FASLG HRAS IL10

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome

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

(show top 50) (show all 79)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 4 88150-42-9 2162
2
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616 46835353
3
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
4
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
5
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
6
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
7 Antihypertensive Agents Phase 4
8 Vasodilator Agents Phase 4
9 calcium channel blockers Phase 4
10 Calcium, Dietary Phase 4
11 Anti-Infective Agents Phase 4
12 Antifungal Agents Phase 4
13 Anti-Bacterial Agents Phase 4
14 Antibiotics, Antitubercular Phase 4
15 Immunosuppressive Agents Phase 4
16 Calcineurin Inhibitors Phase 4
17
Betamethasone Approved, Vet_approved Phase 3 378-44-9 9782
18 Betamethasone-17,21-dipropionate Phase 3
19 Betamethasone sodium phosphate Phase 3
20 Betamethasone Valerate Phase 3 2152-44-5
21 Betamethasone benzoate Phase 3
22 Hormones Phase 3
23 glucocorticoids Phase 3
24 Respiratory System Agents Phase 3
25 Anti-Inflammatory Agents Phase 3
26 Hormone Antagonists Phase 3
27 Anti-Asthmatic Agents Phase 3
28 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
29 Betamethasone acetate Phase 3
30
Valproic acid Approved, Investigational Phase 1, Phase 2 99-66-1 3121
31
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
32
alemtuzumab Approved, Investigational Phase 2 216503-57-0
33
Hydroxyurea Approved Phase 2 127-07-1 3657
34
Melphalan Approved Phase 2 148-82-3 460612 4053
35
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
36 Neurotransmitter Agents Phase 1, Phase 2
37 Central Nervous System Depressants Phase 1, Phase 2
38 Tranquilizing Agents Phase 1, Phase 2
39 GABA Agents Phase 1, Phase 2
40 Anticonvulsants Phase 1, Phase 2
41 Antimanic Agents Phase 1, Phase 2
42 Psychotropic Drugs Phase 1, Phase 2
43 Antimetabolites Phase 2
44 Alkylating Agents Phase 2
45 Nucleic Acid Synthesis Inhibitors Phase 2
46 Antineoplastic Agents, Immunological Phase 2
47 Antimetabolites, Antineoplastic Phase 2
48 Antineoplastic Agents, Alkylating Phase 2
49
Sulfadoxine Approved, Investigational Phase 1 2447-57-6 17134
50
Pyrimethamine Approved, Investigational, Vet_approved Phase 1 58-14-0 4993

Interventional clinical trials:

(show all 29)
# Name Status NCT ID Phase Drugs
1 Azelnidipine and Amlodipine Anti-Coronary Atherosclerotic Trial in Hypertensive Patients Undergoing Coronary Intervention by Serial Volumetric Intravascular Ultrasound Analysis in Junten Medical University (ALPS-J) Completed NCT00294567 Phase 4 Calcium channel blockers (amlodipine, azelnidipine)
2 Tacrolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Recruiting NCT03540472 Phase 4 tacrolimus
3 Sirolimus Treatment for Refractory Pure Red Cell Aplasia, a Prospective Study Recruiting NCT03364764 Phase 4 Sirolimus
4 Antenatal Late Preterm Steroids (ALPS): A Randomized Placebo-Controlled Trial Active, not recruiting NCT01222247 Phase 3 Betamethasone;Placebo
5 Pilot (Phase I-II) Study of Valproic Acid (Depakote) for the Treatment of the Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00605657 Phase 1, Phase 2 Valproic Acid
6 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤40 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
7 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
8 Sirolimus for Patients With Chronic and/or Refractory Autoimmune Cytopenias: A Pilot Series Active, not recruiting NCT00392951 Phase 1, Phase 2 sirolimus
9 Pilot Study of Pyrimethamine and Sulfadoxine (Fansidar) for the Treatment of Individuals With the Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00013689 Phase 1 Fansidar (pyrimethamine and sulfadoxine)
10 Pilot (Phase I-II) Study of Pyrimethamine (Daraprim) for the Treatment of the Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00065390 Phase 1 Pyrimethamine
11 Evaluation of the Practice of the TEP Choline in Provence - Alps and Côte d'Azur at Patients With Prostate Cancer - Multicentre Retrospective Study. Unknown status NCT03201380
12 Early Postnatal Discharge in a French Perinatal Network Unknown status NCT02298569
13 Study of Fluorodeoxyglucose Positron Emission Tomography (FDG-PET) for the Evaluation of the Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-Associated Lymphoma Completed NCT00068146
14 Infusing Robot-Assisted Therapy With Motor Learning Principles: An Active Learning Program for Stroke Completed NCT02747433
15 Assessment of Facilitated Tucking During the Procedure of Daily Weight on the Level of Stress in Preterm Infants Completed NCT02944773
16 Altitude-dependent Effects of Concentric and Eccentric Exercise on Glucose Metabolism in Pre-diabetic Men Completed NCT01890876
17 Study of the Immunopathogenesis, Natural History, and Genetics of Autoimmune Lymphoproliferative Syndrome (ALPS) Associated With an Expansion of CD4-8-/TCR Alpha/Beta+ T Cells Recruiting NCT00001350
18 A Paradigm Sift: Rehabilitation Robotics, Cognitive Skills Training and Function Recruiting NCT03599544
19 Fetal Metabolic Consequences of Late Preterm Steroid Exposure Recruiting NCT03076775
20 Prosthetic Smart Socket Technology to Improve Patient Interaction, Usability, Comfort, Fit, and Function. Recruiting NCT03199222
21 Clinical Outcomes of the ALPS Proximal Humerus Plating System Recruiting NCT03328650
22 Posttraumatic Stress Disorder and Quality of Life of Avalanche Survivors From 2014 to 2018, Based on the French North Alpine Avalanche Register: Risk Factor Analysis Recruiting NCT03936738
23 Description and Evaluation of Care Practices Amongst Geriatric Oncology Unit in the Alpine Valley, in the Follow-up of Cancer Patients. Recruiting NCT03349229
24 Evaluation of the Implementation of a Clinical Pathway for Improving the Performance of Medical and Surgical Management of Hip Prosthesis Infections Recruiting NCT02660268
25 Baseline Characteristics, Processes of Care, System-related Factors, and Clinical Outcomes Associated With the Quality and Safety of Initial Management for ST-segment Elevation Myocardial Infarction: A Multicenter Cohort Study Recruiting NCT02788344
26 Development of a Risk Prediction Model for Identifying Potentially Avoidable Readmissions of Patients Hospitalized With Community-Acquired Pneumonia Recruiting NCT02833259
27 Comparative Autoantibody and Immunologic Cell Marker Study Enrolling by invitation NCT02422875
28 Evaluation of Professional Practices on the Management of Cardiogenic Pulmonary Edema (RENAU-OAP) Terminated NCT03148847
29 Use of Fluorodeoxyglucose Positron Emission Tomography With Computed Tomography for the Evaluation of Autoimmune Lymphoproliferative Syndrome Lymphadenopathy Suggestive of 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:

# Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome 29 FAS FASLG
2 Autoimmune Lymphoproliferative Syndrome, Type 1b 29 FASLG
3 Autoimmune Lymphoproliferative Syndrome, Type 1a 29

Anatomical Context for Autoimmune Lymphoproliferative Syndrome

MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome:

41
T Cells, Lymph Node, Spleen, Liver, Skin, Kidney, Eye

Publications for Autoimmune Lymphoproliferative Syndrome

Articles related to Autoimmune Lymphoproliferative Syndrome:

(show top 50) (show all 2952)
# Title Authors PMID Year
1
Autoimmune lymphoproliferative syndrome with somatic Fas mutations. 9 38 4 8 71
15459302 2004
2
Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. 9 38 4 8 71
8787672 1996
3
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. 9 38 4 8 71
7540117 1995
4
Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? 38 4 8 71
10709732 2000
5
Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. 9 38 8 71
9028321 1997
6
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. 4 8 71
7539157 1995
7
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. 9 38 4 71
16446975 2006
8
The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. 9 38 4 8
11418480 2001
9
Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. 9 38 4 71
10515860 1999
10
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. 9 38 4 71
10412980 1999
11
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. 9 38 4 71
10090885 1999
12
Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. 9 38 4 71
10200300 1999
13
The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. 9 38 4 71
9821419 1998
14
Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans. 38 4 71
23430113 2013
15
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. 38 4 8
21183795 2011
16
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. 38 4 8
20360470 2010
17
Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. 8 71
8929361 1996
18
Chronic lymphadenopathy simulating malignant lymphoma. 8 71
4165068 1967
19
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ. 4 71
23319571 2013
20
Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity. 9 38 8
9787134 1998
21
Human autoimmune lymphoproliferative syndrome, a defect in the apoptosis-inducing Fas receptor: a lesson from the mouse model. 9 38 8
9609991 1998
22
Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. 9 38 8
9028957 1997
23
A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. 4 8
1386609 1992
24
Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). 38 8
19930184 2010
25
FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function. 9 38 4
19176318 2009
26
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. 9 38 4
17999750 2007
27
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib. 9 38 4
17605793 2007
28
Autoimmune Lymphoproliferative Syndrome 38 71
20301287 2006
29
Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome. 9 38 4
16291365 2005
30
Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM), is the basis for ALPS Ia in a family with duplicated 3' splice site AG in CD95 intron 5 on one allele. 9 38 4
15870181 2005
31
Bilateral uveitis in a patient with autoimmune lymphoproliferative syndrome. 38 8
15767081 2005
32
Development of lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) and its relationship to Fas gene mutations. 9 38 4
15160902 2004
33
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. 9 38 4
12353035 2002
34
Caspase-10 is an initiator caspase in death receptor signaling. 9 38 4
11717445 2001
35
Description of serologic features in autoimmune lymphoproliferative syndrome. 9 38 4
10960521 2000
36
Pathological findings in human autoimmune lymphoproliferative syndrome. 9 38 4
9811346 1998
37
Analysis of protein-coding genetic variation in 60,706 humans. 71
27535533 2016
38
Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial. 38 4
26504182 2016
39
Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. 38 4
26456038 2016
40
Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. 38 4
26334989 2015
41
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. 38 4
25451160 2014
42
Autoimmune lymphoproliferative syndrome: an update and review of the literature. 38 4
25086580 2014
43
Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients. 38 4
24970930 2014
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Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. 38 4
24398331 2014
45
IL-17 protects T cells from apoptosis and contributes to development of ALPS-like phenotypes. 38 4
24363402 2014
46
Investigation of common variable immunodeficiency patients and healthy individuals using autoimmune lymphoproliferative syndrome biomarkers. 38 4
23993982 2013
47
Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia. 38 4
23850805 2013
48
The expanding spectrum of the autoimmune lymphoproliferative syndromes. 38 4
24240292 2013
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Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation. 71
23666743 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. 38 4
23524443 2013

Variations for Autoimmune Lymphoproliferative Syndrome

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome:

6 (show top 50) (show all 206)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FASLG NM_000639.3(FASLG): c.473_556del (p.Met158_Glu185del) deletion Pathogenic rs80358236 1:172634782-172634865 1:172665642-172665725
2 FAS NM_000043.6(FAS): c.232del (p.Asp78fs) deletion Pathogenic rs606231361 10:90767492-90767492 10:89007735-89007735
3 FAS NM_000043.6(FAS): c.334+2dup duplication Pathogenic rs606231362 10:90767596-90767596 10:89007839-89007839
4 FAS NM_000043.6(FAS): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic rs121913076 10:90773920-90773920 10:89014163-89014163
5 FAS NM_000043.6(FAS): c.569-2A> C single nucleotide variant Pathogenic rs606231363 10:90771754-90771754 10:89011997-89011997
6 FAS NM_000043.6(FAS): c.817C> T (p.Gln273Ter) single nucleotide variant Pathogenic rs121913077 10:90774016-90774016 10:89014259-89014259
7 FAS NM_000043.6(FAS): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic rs121913078 10:90768672-90768672 10:89008915-89008915
8 FAS NM_000043.6(FAS): c.809C> T (p.Thr270Ile) single nucleotide variant Pathogenic rs121913081 10:90774008-90774008 10:89014251-89014251
9 FAS NM_000043.6(FAS): c.651+2T> A single nucleotide variant Pathogenic rs267607122 10:90771840-90771840 10:89012083-89012083
10 FAS NM_000043.6(FAS): c.73G> A (p.Ala25Thr) single nucleotide variant Pathogenic rs606231364 10:90762828-90762828 10:89003071-89003071
11 FAS NM_000043.6(FAS): c.968_987dup (p.Glu330fs) duplication Pathogenic rs606231365 10:90774167-90774186 10:89014410-89014429
12 FAS NM_000043.6(FAS): c.740G> C (p.Gly247Ala) single nucleotide variant Pathogenic rs121913085 10:90773939-90773939 10:89014182-89014182
13 FAS NM_000043.6(FAS): c.651+2T> C single nucleotide variant Pathogenic rs267607122 10:90771840-90771840 10:89012083-89012083
14 FAS NM_000043.6(FAS): c.692_693insT (p.Lys231fs) insertion Pathogenic rs606231366 10:90773891-90773892 10:89014134-89014135
15 FAS NM_000043.6(FAS): c.778G> T (p.Asp260Tyr) single nucleotide variant Pathogenic rs121913086 10:90773977-90773977 10:89014220-89014220
16 FAS NM_000043.6(FAS): c.779A> T (p.Asp260Val) single nucleotide variant Pathogenic rs28929498 10:90773978-90773978 10:89014221-89014221
17 FASLG NM_000639.3(FASLG): c.263del (p.Phe88fs) deletion Pathogenic rs587776450 1:172628604-172628604 1:172659464-172659464
18 FAS NM_000043.6(FAS): c.755del (p.Asn252fs) deletion Pathogenic 10:90773954-90773954 10:89014197-89014197
19 FAS NM_000043.6(FAS): c.110T> A (p.Leu37Ter) single nucleotide variant Pathogenic 10:90762865-90762865 10:89003108-89003108
20 FAS NM_000043.6(FAS): c.651+1G> T single nucleotide variant Pathogenic 10:90771839-90771839 10:89012082-89012082
21 FAS NM_000043.6(FAS): c.652-1G> A single nucleotide variant Pathogenic 10:90773099-90773099 10:89013342-89013342
22 FAS NM_000043.6(FAS): c.676+1G> A single nucleotide variant Pathogenic 10:90773125-90773125 10:89013368-89013368
23 FAS NM_000043.6(FAS): c.651+1G> A single nucleotide variant Pathogenic/Likely pathogenic 10:90771839-90771839 10:89012082-89012082
24 FAS NM_000043.6(FAS): c.197-2A> G single nucleotide variant Likely pathogenic 10:90767455-90767455 10:89007698-89007698
25 FAS NM_000043.6(FAS): c.749G> C (p.Arg250Pro) single nucleotide variant Likely pathogenic rs121913080 10:90773948-90773948 10:89014191-89014191
26 FAS NM_000043.6(FAS): c.580G> A (p.Glu194Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs56006128 10:90771767-90771767 10:89012010-89012010
27 FAS NM_000043.6(FAS): c.578A> G (p.Lys193Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs150489856 10:90771765-90771765 10:89012008-89012008
28 FASLG NM_000639.3(FASLG): c.451+7A> G single nucleotide variant Conflicting interpretations of pathogenicity rs201525996 1:172633537-172633537 1:172664397-172664397
29 FASLG NM_000639.3(FASLG): c.364C> A (p.His122Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs140406512 1:172629250-172629250 1:172660110-172660110
30 CASP10 NM_032977.3(CASP10): c.1466G> A (p.Arg489Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs535121774 2:202082361-202082361 2:201217638-201217638
31 CASP10 NM_032977.3(CASP10): c.1216A> T (p.Ile406Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs80358239 2:202074086-202074086 2:201209363-201209363
32 CASP10 NM_032977.3(CASP10): c.1502C> T (p.Pro501Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148939095 2:202082397-202082397 2:201217674-201217674
33 CASP10 NM_032977.3(CASP10): c.*333C> T single nucleotide variant Uncertain significance rs886055407 2:202082797-202082797 2:201218074-201218074
34 CASP10 NM_032977.3(CASP10): c.729A> G (p.Arg243=) single nucleotide variant Uncertain significance rs374515060 2:202070612-202070612 2:201205889-201205889
35 CASP10 NM_032977.3(CASP10): c.879C> A (p.Ser293Arg) single nucleotide variant Uncertain significance rs369897442 2:202072863-202072863 2:201208140-201208140
36 CASP10 NM_032977.3(CASP10): c.*1038C> T single nucleotide variant Uncertain significance rs886055412 2:202083502-202083502 2:201218779-201218779
37 CASP10 NM_032977.3(CASP10): c.*136A> G single nucleotide variant Uncertain significance rs747374452 2:202082600-202082600 2:201217877-201217877
38 CASP10 NM_032977.3(CASP10): c.*2295T> A single nucleotide variant Uncertain significance rs886055420 2:202084759-202084759 2:201220036-201220036
39 CASP10 NM_032977.3(CASP10): c.*2869A> C single nucleotide variant Uncertain significance rs886055425 2:202085333-202085333 2:201220610-201220610
40 CASP10 NM_032977.3(CASP10): c.*2927_*2928del deletion Uncertain significance rs886055426 2:202085391-202085392 2:201220668-201220669
41 CASP10 NM_032977.3(CASP10): c.*2979C> T single nucleotide variant Uncertain significance rs886055427 2:202085443-202085443 2:201220720-201220720
42 CASP10 NM_032977.3(CASP10): c.*657G> C single nucleotide variant Uncertain significance rs886055408 2:202083121-202083121 2:201218398-201218398
43 CASP10 NM_032977.3(CASP10): c.*1257G> A single nucleotide variant Uncertain significance rs886055414 2:202083721-202083721 2:201218998-201218998
44 CASP10 NM_032977.3(CASP10): c.*1366T> C single nucleotide variant Uncertain significance rs886055415 2:202083830-202083830 2:201219107-201219107
45 CASP10 NM_032977.3(CASP10): c.*2425C> G single nucleotide variant Uncertain significance rs886055421 2:202084889-202084889 2:201220166-201220166
46 CASP10 NM_032977.3(CASP10): c.1350G> T (p.Arg450=) single nucleotide variant Uncertain significance rs370670949 2:202074220-202074220 2:201209497-201209497
47 CASP10 NM_032977.3(CASP10): c.*1538T> A single nucleotide variant Uncertain significance rs886055416 2:202084002-202084002 2:201219279-201219279
48 CASP10 NM_032977.3(CASP10): c.*1909A> G single nucleotide variant Uncertain significance rs886055417 2:202084373-202084373 2:201219650-201219650
49 CASP10 NM_032977.3(CASP10): c.*905C> T single nucleotide variant Uncertain significance rs886055411 2:202083369-202083369 2:201218646-201218646
50 CASP10 NM_032977.3(CASP10): c.*1125T> C single nucleotide variant Uncertain significance rs886055413 2:202083589-202083589 2:201218866-201218866

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

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

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 KEGG:

37
# Name Kegg Source Accession
1 Apoptosis hsa04210

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

(show top 50) (show all 83)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.23 TNFAIP3 RASGRP1 PRKCD NRAS IL2RA IL2
2
Show member pathways
14 UNC13D TNFAIP3 RASGRP1 PTPRC PRKCD NRAS
3
Show member pathways
13.94 RASGRP1 PRKCD NRAS IL2RA IL2 HRAS
4
Show member pathways
13.87 RASGRP1 PRKCD NRAS IL2RA IL2 IL10
5
Show member pathways
13.74 PRKCD NRAS IL2RA IL2 IL10 HRAS
6
Show member pathways
13.46 PRKCD NRAS IL2RA IL2 IL10 HRAS
7
Show member pathways
13.42 RASGRP1 PRKCD NRAS IL2RA IL2 IL10
8
Show member pathways
13.17 PTPRC PRKCD NRAS IL2RA IL2 IL10
9
Show member pathways
13.16 TNFAIP3 PRKCD IL2 IL10 FASLG FAS
10
Show member pathways
13.11 PRKCD NRAS IL2RA IL2 HRAS ACTA2
11
Show member pathways
13.05 NRAS IL2RA IL2 HRAS FASLG FAS
12
Show member pathways
13.03 NRAS HRAS FASLG FAS FADD CASP8
13
Show member pathways
13 PRKCD NRAS HRAS FASLG FAS FADD
14
Show member pathways
12.99 RASGRP1 PTPRC PRKCD NRAS HRAS CTLA4
15
Show member pathways
12.91 PRKCD NRAS HRAS FASLG FAS
16 12.84 RASGRP1 PRKCD NRAS HRAS FASLG FAS
17
Show member pathways
12.81 PRF1 NRAS HRAS FASLG FAS FADD
18 12.78 RASGRP1 NRAS IL2RA IL2 HRAS FASLG
19
Show member pathways
12.77 PRKCD NRAS HRAS FASLG FAS
20
Show member pathways
12.75 FASLG FAS FADD CASP8 CASP10
21
Show member pathways
12.75 TNFAIP3 PRKCD NRAS HRAS FASLG FAS
22
Show member pathways
12.72 PRKCD NRAS HRAS FADD CASP8
23
Show member pathways
12.71 RASGRP1 PTPRC IL2RA IL2 IL10 HRAS
24
Show member pathways
12.71 PRF1 FASLG FAS FADD CASP8 CASP10
25
Show member pathways
12.68 TNFAIP3 PTPRC PRKCD NRAS HRAS FASLG
26
Show member pathways
12.59 PRF1 NRAS IL2 HRAS FASLG FAS
27
Show member pathways
12.59 TNFAIP3 PRKCD HRAS FASLG FAS FADD
28 12.48 TNFAIP3 PTPRC IL2RA IL2 IL10 FASLG
29
Show member pathways
12.47 PRKCD NRAS HRAS CASP8
30
Show member pathways
12.46 PTPRC PRKCD IL2RA IL2 CTLA4 ACTA2
31
Show member pathways
12.44 PTPRC PRKCD NRAS HRAS
32
Show member pathways
12.44 PRKCD NRAS IL2RA IL2 HRAS CASP8
33
Show member pathways
12.43 PRF1 HRAS CASP10 ACTA2
34
Show member pathways
12.4 PTPRC PRKCD NRAS IL2RA IL2 IL10
35 12.39 NRAS IL2RA IL2 HRAS
36
Show member pathways
12.39 FASLG FAS FADD CASP8 CASP10
37
Show member pathways
12.38 TNFAIP3 FASLG FAS FADD CASP8 CASP10
38
Show member pathways
12.37 PTPRC PRKCD NRAS HRAS
39 12.35 NRAS HRAS FASLG FAS
40 12.33 TNFAIP3 FASLG FAS FADD CASP8
41
Show member pathways
12.31 PRF1 FASLG FAS FADD CASP8 CASP10
42
Show member pathways
12.3 FASLG FAS CASP8 CASP10
43
Show member pathways
12.29 TNFAIP3 FASLG FAS FADD CASP8
44 12.28 IL10 FADD CASP8 CASP10
45
Show member pathways
12.24 RASGRP1 NRAS IL2RA HRAS
46
Show member pathways
12.24 PRKCD NRAS IL2 IL10 HRAS CASP8
47
Show member pathways
12.21 TNFAIP3 PRKCD IL2 FADD CASP8
48
Show member pathways
12.16 PRKCD NRAS IL2RA IL2 IL10 HRAS
49
Show member pathways
12.15 NRAS IL10 HRAS FASLG
50
Show member pathways
12.15 RASGRP1 PTPRC PRKCD NRAS IL2 IL10

GO Terms for Autoimmune Lymphoproliferative Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 9.65 PTPRC FASLG FAS FADD CASP8
2 cell body GO:0044297 9.5 FADD CASP8 ACTA2
3 death-inducing signaling complex GO:0031264 9.33 FAS FADD CASP8
4 ripoptosome GO:0097342 9.13 FADD CASP8 CASP10
5 CD95 death-inducing signaling complex GO:0031265 8.92 FAS FADD CASP8 CASP10

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

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.99 IL2RA IL2 IL10 FASLG
2 regulation of apoptotic process GO:0042981 9.98 FAS FADD CASP8 CASP10
3 cell surface receptor signaling pathway GO:0007166 9.93 PTPRC IL2RA HRAS FADD CASP8 CASP10
4 defense response to virus GO:0051607 9.92 UNC13D PTPRC PRF1 FADD
5 positive regulation of protein phosphorylation GO:0001934 9.92 RASGRP1 IL2 HRAS FAS
6 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.91 FASLG FADD CASP8 CASP10
7 MAPK cascade GO:0000165 9.91 RASGRP1 NRAS IL2RA IL2 HRAS
8 cellular response to mechanical stimulus GO:0071260 9.83 FAS FADD CASP8
9 Ras protein signal transduction GO:0007265 9.82 RASGRP1 NRAS HRAS
10 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.81 PRKCD NRAS HRAS
11 positive regulation of T cell proliferation GO:0042102 9.81 PTPRC IL2RA IL2
12 negative regulation of inflammatory response GO:0050728 9.8 TNFAIP3 PRKCD IL2RA IL2 IL10
13 positive regulation of tumor necrosis factor production GO:0032760 9.77 RASGRP1 PTPRC FADD
14 positive regulation of interferon-gamma production GO:0032729 9.76 IL2 HRAS FADD
15 negative regulation of T cell proliferation GO:0042130 9.75 IL2RA IL10 CTLA4
16 B cell proliferation GO:0042100 9.73 PTPRC PRKCD IL10
17 extrinsic apoptotic signaling pathway GO:0097191 9.73 FASLG FAS FADD CASP8
18 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.72 FASLG FADD CASP8
19 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.72 FASLG FAS FADD CASP8 CASP10
20 positive regulation of activated T cell proliferation GO:0042104 9.7 IL2RA IL2 FADD
21 positive regulation of macrophage differentiation GO:0045651 9.68 FADD CASP8
22 negative regulation of immune response GO:0050777 9.68 IL2RA CTLA4
23 activation of cysteine-type endopeptidase activity GO:0097202 9.68 FADD CASP8
24 negative regulation of peptidyl-tyrosine phosphorylation GO:0050732 9.67 PTPRC PRKCD
25 inflammatory response to antigenic stimulus GO:0002437 9.67 RASGRP1 IL2RA
26 response to molecule of bacterial origin GO:0002237 9.67 TNFAIP3 IL10
27 positive regulation of T cell differentiation GO:0045582 9.67 PTPRC IL2RA IL2
28 toll-like receptor 3 signaling pathway GO:0034138 9.66 FADD CASP8
29 interleukin-2-mediated signaling pathway GO:0038110 9.66 IL2RA IL2
30 positive regulation of isotype switching to IgG isotypes GO:0048304 9.65 PTPRC IL2
31 regulation of regulatory T cell differentiation GO:0045589 9.65 IL2RA IL2 CTLA4
32 apoptotic signaling pathway GO:0097190 9.65 FASLG FAS FADD CASP8 CASP10
33 death-inducing signaling complex assembly GO:0071550 9.64 FADD CASP8
34 regulation of necroptotic process GO:0060544 9.63 FADD CASP8
35 negative regulation of lymphocyte proliferation GO:0050672 9.61 IL2RA IL2
36 TRAIL-activated apoptotic signaling pathway GO:0036462 9.59 FADD CASP8
37 regulation of T cell homeostatic proliferation GO:0046013 9.57 IL2RA IL2
38 necroptotic signaling pathway GO:0097527 9.54 FASLG FAS FADD
39 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.46 FASLG FAS FADD CASP8
40 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.35 TNFAIP3 FASLG FAS FADD CASP8
41 apoptotic process GO:0006915 9.32 TNFAIP3 PRKCD PRF1 IL2RA HRAS FASLG
42 immune response GO:0006955 10.01 IL2RA IL2 IL10 FASLG FAS CTLA4

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

# Name GO ID Score Top Affiliating Genes
1 kinase binding GO:0019900 9.5 TNFAIP3 PRKCD FAS
2 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.37 CASP8 CASP10
3 tumor necrosis factor receptor binding GO:0005164 9.33 FASLG FADD CASP8
4 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.26 CASP8 CASP10
5 death receptor binding GO:0005123 9.13 FASLG FADD CASP8
6 death effector domain binding GO:0035877 8.8 FADD CASP8 CASP10

Sources for Autoimmune Lymphoproliferative Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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