ALPS
MCID: ATM006
MIFTS: 75

Autoimmune Lymphoproliferative Syndrome (ALPS)

Categories: Blood diseases, Cancer 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 25 20 43 58 29 54 6 44 15 39 70
Alps 57 12 25 20 43 58 15
Canale-Smith Syndrome 57 12 20 43 58 72
Autoimmune Lymphoproliferative Syndrome, Type Ia 57 13 70
Autoimmune Lymphoproliferative Syndrome, Type Ib 57 70
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 20
Autoimmune Lymphoproliferative Syndrome Type Ia 72
Autoimmune Lymphoproliferative Syndrome Type Ib 72
Autoimmune Lymphoproliferative Syndrome 1a 72
Autoimmune Lymphoproliferative Syndrome 1b 72
Autoimmune Lymphoproliferative Syndromes 36
Fas Deficiency 20
Alps1a 72
Alps1b 72
Css 72

Characteristics:

Orphanet epidemiological data:

58
autoimmune lymphoproliferative syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
recessive inheritance has been reported


HPO:

31
autoimmune lymphoproliferative syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

25
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:

Orphanet: 58  
Rare haematological diseases
Rare immunological diseases


Summaries for Autoimmune Lymphoproliferative Syndrome

MedlinePlus Genetics : 43 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 caspase 8 deficiency. 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 Mannitol have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and t cells, 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.

GARD : 20 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) (Updated 05-Apr-2021)

KEGG : 36 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 : 72 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 : 73 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

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

(show top 50) (show all 306)
# Related Disease Score Top Affiliating Genes
1 autoimmune lymphoproliferative syndrome, type iii 33.7 PRKCD LRBA CASP10
2 caspase 8 deficiency 33.6 FASLG FAS FADD CASP8 CASP10
3 lymphoproliferative syndrome 32.1 UNC13D STAT3 RASGRP1 PTPRC PRKCD PRF1
4 thrombocytopenia 31.5 STAT3 PRF1 IL2 IL10 FASLG FAS
5 autoimmune disease 31.5 STAT3 PRF1 MIR146A IL2RA IL2 IL10
6 hemolytic anemia 31.5 LRBA IL2RA IL2 IL10 FASLG FAS
7 lymphoma 31.4 PTPRC PRF1 IL2RA IL2 FAS CASP10
8 evans' syndrome 31.2 LRBA IL10 CTLA4
9 hemophagocytic lymphohistiocytosis 31.1 UNC13D PRF1 IL2RA IL10 FAS CTLA4
10 immune deficiency disease 31.1 PTPRC MIR146A IL2RA IL2 IL10 FASLG
11 exanthem 31.1 IL2 IL10 CTLA4
12 lupus erythematosus 31.1 RASGRP1 IL10 FASLG CTLA4
13 lymphopenia 31.0 IL2RA IL2 IL10 FASLG FAS CTLA4
14 lymphoma, non-hodgkin, familial 31.0 STAT3 PTPRC PRF1 NRAS IL2RA IL2
15 common variable immunodeficiency 31.0 STAT3 PRKCD LRBA IL2RA IL2 IL10
16 juvenile rheumatoid arthritis 30.9 IL2RA IL2 IL10 CTLA4
17 uveitis 30.9 IL2RA IL2 IL10 CTLA4
18 systemic lupus erythematosus 30.7 STAT3 RASGRP1 PTPRC MIR146A IL2RA IL2
19 chronic active epstein-barr virus infection 30.7 IL2 IL10 CTLA4
20 chickenpox 30.7 PRF1 IL2 IL10 CTLA4
21 t-cell large granular lymphocyte leukemia 30.7 STAT3 IL2RA IL2 FASLG
22 lymphadenitis 30.7 STAT3 IL2RA IL10 FASLG FAS
23 autoimmune hepatitis 30.7 PTPRC IL10 FAS CTLA4
24 intermediate uveitis 30.7 IL2RA IL2 IL10
25 pure red-cell aplasia 30.7 STAT3 IL2RA IL2
26 panniculitis 30.7 IL2RA FASLG FAS
27 combined immunodeficiency 30.6 STAT3 RASGRP1 PTPRC LRBA IL2RA IL2
28 leukemia, acute myeloid 30.5 STAT3 PTPRC PRF1 NRAS MIR146A IL2
29 leukemia, acute lymphoblastic 30.4 PTPRC IL2 FADD CTLA4 CASP8 BCL2L11
30 breast cancer 30.3 STAT3 PTPRC PRKCD NRAS MIR146A IL2RA
31 autoimmune lymphoproliferative syndrome, type iia 11.9
32 autoimmune lymphoproliferative syndrome, type v 11.9
33 ras-associated autoimmune leukoproliferative disorder 11.8
34 dianzani autoimmune lymphoproliferative disease 11.5
35 coffin-siris syndrome 1 11.4
36 churg-strauss syndrome 11.3
37 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 11.1
38 superficial siderosis 11.1
39 splenomegaly 10.8
40 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.7
41 large granular lymphocyte leukemia 10.6 STAT3 CASP8
42 post-transplant lymphoproliferative disease 10.6 IL10 FADD CASP8
43 severe cutaneous adverse reaction 10.6 PRF1 FASLG FAS CTLA4
44 pneumoconiosis 10.6 IL10 FASLG FAS CASP8
45 esophageal tuberculosis 10.6 LRBA IL2RA CTLA4
46 thyroiditis 10.6 IL2 IL10 FASLG CTLA4
47 idiopathic neutropenia 10.6 IL2RA IL10 FASLG
48 acute myocarditis 10.6 IL10 FASLG FAS
49 filarial elephantiasis 10.6 IL2 IL10 CTLA4
50 immunodeficiency 41 with lymphoproliferation and autoimmunity 10.6 IL2RA IL2 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:

58 31 (show top 50) (show all 80)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 chronic noninfectious lymphadenopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002730
3 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
4 hypersplenism 58 31 frequent (33%) Frequent (79-30%) HP:0001971
5 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
6 autoimmune hemolytic anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001890
7 autoimmune thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001973
8 neutropenia in presence of anti-neutropil antibodies 58 31 frequent (33%) Frequent (79-30%) HP:0001904
9 increased circulating igg level 58 31 frequent (33%) Frequent (79-30%) HP:0003237
10 abnormal serum interleukin level 58 31 frequent (33%) Frequent (79-30%) HP:0030782
11 elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells 58 31 frequent (33%) Frequent (79-30%) HP:0002851
12 increased b cell count 58 31 frequent (33%) Frequent (79-30%) HP:0005404
13 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
14 thyroiditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100646
15 urticaria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001025
16 vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002633
17 reticulocytosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001923
18 eosinophilia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001880
19 decreased circulating igg level 58 31 occasional (7.5%) Occasional (29-5%) HP:0004315
20 decreased circulating total igm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002850
21 t-cell lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012190
22 b-cell lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012191
23 increased circulating iga level 58 31 occasional (7.5%) Occasional (29-5%) HP:0003261
24 antiphospholipid antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003613
25 glomerulonephritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000099
26 rheumatoid factor positive 58 31 occasional (7.5%) Occasional (29-5%) HP:0002923
27 antinuclear antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003493
28 hodgkin lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012189
29 coombs-positive hemolytic anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004844
30 abnormal vitamin b12 level 58 31 occasional (7.5%) Occasional (29-5%) HP:0040126
31 antineutrophil antibody positivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0003453
32 burkitt lymphoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0030080
33 increased circulating ige level 31 occasional (7.5%) HP:0003212
34 decreased proportion of cd4-positive helper t cells 31 occasional (7.5%) HP:0005407
35 decreased specific anti-polysaccharide antibody level 31 occasional (7.5%) HP:0002848
36 abnormal proportion of cd8-positive t cells 31 occasional (7.5%) HP:0031393
37 arthritis 58 31 very rare (1%) Very rare (<4-1%) HP:0001369
38 renal insufficiency 58 31 very rare (1%) Very rare (<4-1%) HP:0000083
39 hydrops fetalis 58 31 very rare (1%) Very rare (<4-1%) HP:0001789
40 premature ovarian insufficiency 58 31 very rare (1%) Very rare (<4-1%) HP:0008209
41 pulmonary fibrosis 58 31 very rare (1%) Very rare (<4-1%) HP:0002206
42 uveitis 58 31 very rare (1%) Very rare (<4-1%) HP:0000554
43 headache 58 31 very rare (1%) Very rare (<4-1%) HP:0002315
44 basal cell carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002671
45 bone marrow hypocellularity 58 31 very rare (1%) Very rare (<4-1%) HP:0005528
46 thyroid carcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0002890
47 pulmonary infiltrates 58 31 very rare (1%) Very rare (<4-1%) HP:0002113
48 recurrent aphthous stomatitis 58 31 very rare (1%) Very rare (<4-1%) HP:0011107
49 panniculitis 58 31 very rare (1%) Very rare (<4-1%) HP:0012490
50 gastritis 58 31 very rare (1%) Very rare (<4-1%) HP:0005263

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
urticaria
vasculitis rash

Laboratory Abnormalities:
rheumatoid factor positive
platelet antibody positive
increased levels of igg
increased levels of iga
increased levels of igm
more
Neoplasia:
increased risk of malignant lymphoma

Abdomen Liver:
hepatomegaly

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

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

Clinical features from OMIM®:

601859 (Updated 05-Apr-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.93 CASP8 IL2
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.93 BCL2L11 CASP8 FADD FAS FASLG IL10
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.93 CASP8
4 Reduced mammosphere formation GR00396-S 9.5 FADD FAS FASLG IL2RA NRAS PTPRC
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.47 BCL2L11 FADD FAS IL10 IL2RA RASGRP1
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.47 BCL2L11 FADD FAS IL10 IL2 IL2RA
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.47 CASP8

MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome:

46 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.43 ACTA2 BCL2L11 CASP8 CTLA4 FADD FAS
2 hematopoietic system MP:0005397 10.42 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
3 endocrine/exocrine gland MP:0005379 10.4 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
4 immune system MP:0005387 10.39 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
5 homeostasis/metabolism MP:0005376 10.38 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
6 cellular MP:0005384 10.33 BCL2L11 CASP8 FADD FAS FASLG IL10
7 growth/size/body region MP:0005378 10.32 BCL2L11 CASP8 FADD FAS IL10 IL2
8 digestive/alimentary MP:0005381 10.31 CTLA4 FADD FAS FASLG IL10 IL2
9 liver/biliary system MP:0005370 10.22 CASP8 CTLA4 FADD FAS FASLG IL10
10 mortality/aging MP:0010768 10.21 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
11 integument MP:0010771 10.13 BCL2L11 CASP8 CTLA4 FAS FASLG IL10
12 neoplasm MP:0002006 10.02 BCL2L11 CASP8 FAS FASLG IL10 IL2
13 normal MP:0002873 9.91 BCL2L11 CTLA4 FAS FASLG IL10 NRAS
14 renal/urinary system MP:0005367 9.76 BCL2L11 CASP8 FAS FASLG PRKCD PTPRC
15 respiratory system MP:0005388 9.61 CASP8 CTLA4 FAS FASLG IL10 IL2
16 skeleton MP:0005390 9.36 CTLA4 FADD FAS FASLG IL10 IL2RA

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome

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

(show top 50) (show all 96)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 4 88150-42-9 2162
2
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
3
Lactulose Approved Phase 4 4618-18-2 11333
4 Vasodilator Agents Phase 4
5 Hormones Phase 4
6 Antihypertensive Agents Phase 4
7 calcium channel blockers Phase 4
8 Calcium, Dietary Phase 4
9 Hormone Antagonists Phase 4
10
Calcium Nutraceutical Phase 4 7440-70-2 271
11
Betamethasone Approved, Vet_approved Phase 3 378-44-9 9782
12 Anti-Asthmatic Agents Phase 3
13 Respiratory System Agents Phase 3
14 glucocorticoids Phase 3
15 Anti-Inflammatory Agents Phase 3
16 Betamethasone Valerate Phase 3 2152-44-5
17 Betamethasone acetate Phase 3
18 Betamethasone benzoate Phase 3
19 Betamethasone sodium phosphate Phase 3
20 Betamethasone-17,21-dipropionate Phase 3
21
Valproic acid Approved, Investigational Phase 1, Phase 2 99-66-1 3121
22
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
23
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616
24
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
25
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
26
Melphalan Approved Phase 2 148-82-3 4053 460612
27
alemtuzumab Approved, Investigational Phase 2 216503-57-0
28
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
29 Neurotransmitter Agents Phase 1, Phase 2
30 Psychotropic Drugs Phase 1, Phase 2
31 Anticonvulsants Phase 1, Phase 2
32 Anti-Infective Agents Phase 1, Phase 2
33 Antibiotics, Antitubercular Phase 1, Phase 2
34 Anti-Bacterial Agents Phase 1, Phase 2
35 Antifungal Agents Phase 1, Phase 2
36 Immunosuppressive Agents Phase 2
37 Immunologic Factors Phase 2
38 Antineoplastic Agents, Immunological Phase 2
39 Alkylating Agents Phase 2
40
Levoleucovorin Approved, Investigational Phase 1 68538-85-2 149436
41
Pyrimethamine Approved, Investigational, Vet_approved Phase 1 58-14-0 4993
42
leucovorin Approved Phase 1 58-05-9 6006
43
Sulfadoxine Approved, Investigational Phase 1 2447-57-6 17134
44
Folic acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
45 Vitamin B9 Phase 1
46 Folic Acid Antagonists Phase 1
47 Folate Phase 1
48 Antiparasitic Agents Phase 1
49 Vitamin B Complex Phase 1
50 Antimalarials Phase 1

Interventional clinical trials:

(show top 50) (show all 57)
# 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 Influence of Recombinant Human Growth Hormone on Intestinal Permeability and Liver Injury in Intestinal Failure Patients Receiving Parenteral Nutrition (Serono Project) Completed NCT01380366 Phase 4 Somatropin
3 Antenatal Late Preterm Steroids (ALPS): A Randomized Placebo-Controlled Trial Active, not recruiting NCT01222247 Phase 3 Betamethasone;Placebo
4 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
5 Sirolimus for Patients With Chronic and/or Refractory Autoimmune Cytopenias: A Pilot Series Completed NCT00392951 Phase 1, Phase 2 sirolimus
6 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
7 Pilot (Phase I-II) Study of Pyrimethamine (Daraprim) for the Treatment of the Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00065390 Phase 1 Pyrimethamine
8 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)
9 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
10 Assessment of Severity and Outcome of Addicted Cases Admitted to Neurology and Psychiatry Hospital in Assiut University. Unknown status NCT03206411
11 Streptococcus Pneumoniae Nasopharyngeal Carriage Among Children Attending Day-care Centres in the Alpes Maritimes. Substudy: Enterobacterial Intestinal Carriage and Susceptibility to 3rd Generation Cephalosporins Unknown status NCT01485029
12 Study of the Impact of Two Health Prevention Strategies on Students in the Auvergne-Rhône Alpes Region (I2S-Health Prevention) Unknown status NCT03759626
13 Vaccines Immunogenicity in Children Transplanted or Candidate for a Renal, Hepatic, Cardiac or Pulmonary Transplantation, Followed in the Rhône-Alpes Region. A Descriptive and Prospective Monocentric Cohort Study Unknown status NCT03180359
14 Study of Fluorodeoxyglucose Positron Emission Tomography (FDG-PET) for the Evaluation of the Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-Associated Lymphoma Completed NCT00068146
15 Infusing Robot-Assisted Therapy With Motor Learning Principles: An Active Learning Program for Stroke Completed NCT02747433
16 Correlation Between the Incidence of COVID-19 in Nursing-homes and the Profile of Nursing Homes in the French Alps Completed NCT04695457
17 Influence of Irisin on Muscle Quality in a Cohort of Charcot-Marie-Tooth Patients Completed NCT04786522
18 Is The Sudden Onset of Dizziness A Symptom of Acute Liver Dysfunction?An ED Study Completed NCT02733549
19 Non-respiratory Comorbidities Observed in Pulmonary French Transplant Patients With Cystic Fibrosis - Exploratory Study From the French Cohort on 2004-2014. Completed NCT03357913
20 Comparison of Patient Care Management Strategies of Heart Failure in the Rhône-Alpes Region. A Clinical and Economic Study. Completed NCT02763670
21 A Prospective, Mono-center, Interventional Study Evaluating the Effect of One Year Initial Care by Hygieno-dietary Advices With or Without Phlebotomy on Glycemia After at Least 5 Years in Patients With Dysmetabolic Iron Overload Syndrome Completed NCT03942432
22 A 5-Year Long-term Follow-up Study of a Cross-Sectional Cohort Study (PK-VF) For the Examination of the Association of Vitamin D/Bone Turnover/Bone Mineral Density With an Incident Fracture in Chinese Postmenopausal Women Completed NCT02247011
23 A Randomized Controlled Trial Comparing Central Laboratory and Point-of-care Chemistry Test for Solving the Emergency Department Crowding Completed NCT01402635
24 Cognitive Function of Alcoholic Liver Disease Patients Completed NCT04557774
25 Screening for Occult Malignancy in Patients With Idiopathic Venous Thromboembolism: an Open Randomized Controlled Trial Using a Comprehensive Abdomen/Pelvis Computed Tomography Completed NCT00773448
26 Risk Factors, Hepatic Dysfunction, and Open-heart Surgery Completed NCT04271098
27 Internet Gaming Disorder Prevalence of Teenager Psychiatric Inpatient of 4 Psychiatric Units of French Region Auvergne-Rhône-Alpes Completed NCT03366948
28 Shunt Evaluation With ALPE System in Thoracic Surgery Completed NCT02968550
29 Caries Risk Assessment in Children and Adolescents in the Alpes Maritimes (France) Completed NCT01372436
30 SALTO-BIO (Long Term Follow up in Oncology) - PanCareLIFE. Long Term Support for Pediatric Cancer Survivors in Rhône-Alpes. Evaluation of Women Fertility. Completed NCT02665819
31 Long-term Follow-up of Childhood Cancer Survivors in the Rhône-Alpes and Auvergne Regions of France Completed NCT01531478
32 SALTO -2 ( Long Term Monitoring In Oncology ) : Getting Long-term Management of Adult Children Cured of Childhood Cancer in Rhône-Alpes, Multicentric Study Completed NCT02675166
33 Assessment of Cardiac Autonomic Function in Adulthood After Chemotherapy or Radiotherapy in Childhood. Ancillary Study of the "Long-term Follow-up of Childhood Cancer Survivors in the Rhône-Alpes and Auvergne Regions of France" Study Completed NCT01574196
34 Vaccine Exposure in Patients With Multiple Sclerosis in the Auvergne-Rhone-Alpes Region Completed NCT03191669
35 Prevalence of Dissociative Disorders in Children in a Population Supported in the Medico-social and Health Structures in Provence Alpes Cote d'Azur Completed NCT01512641
36 Antitetanus Vaccination for People Older Than 65 Years in the Auvergne-Rhône-Alpes (France) Region Depending on the Demographic and Medical Practice of Their Medical Practitioner. Completed NCT03266211
37 HPV (Papilloma Human Virus) Vaccination in Young Women With Cystic Fibrosis and Followed in the Auvergne Rhône-Alpes Region Completed NCT03265743
38 Estimation of Osteoporosis' Prevalence in France: Pilot Study in the Department of the Alpes-Maritimes Completed NCT00821925
39 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
40 Evaluation of the Prevalence of Sleep Apnea Syndrome in Patients With Hepatocellular Carcinoma Recruiting NCT04190498
41 Abdominal Massage to Prevent Postoperative Ileus as Part of an Enhanced Recovery Program After Colorectal Surgery Recruiting NCT04462705
42 Feasibility and Clinical Impact Study of Non Pharmacological Interventions Targeting the Subject's Empowerment Among Slackline, Mindfulness, Adapted Physical Activity, Self-hypnosis, Qi Gong Versus Usual Care in Management of Chronic Pain Recruiting NCT04176341
43 Clinical Outcomes of the ALPS Proximal Humerus Plating System Recruiting NCT03328650
44 Venous Congestion and Organ Dysfunction in Intensive Care: a Prospective, Multicenter, Observational Study to Evaluate Prevalence and Risk Factors. Recruiting NCT04680728
45 The Potential Therapeutic Role of Hydroxyethyl Starch and Hydrocortisone in Acute Aluminum Phosphide Poisoning: A Randamized Controlled Clinical Trial Recruiting NCT04465539 Hydroxyethyl Starch 130-0.4 60 MG/ML [Voluven];Hydrocortisone;Placebo
46 The Role of Immune Semaphorins in NAFLD Recruiting NCT04573543
47 Screening for Occult Malignancy Using 18F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography (FDG PET/CT) in Patients With Unprovoked Venous Thromboembolism Recruiting NCT04304651
48 Prophylaxis and On-demand Treatment for Persons With Haemophilia and Other Coagulation Deficiencies: a Comparison of Perceived and Observed Accessibility in the Auvergne-Rhône-Alpes Region (France) Recruiting NCT04775888
49 Study of the Incidence of SARS-CoV-2 Infection in the Alpes-Maritimes Department by Analysis of the Specific Humoral and Cellular Response During Deconfinement Recruiting NCT04429594
50 Clinical and Social Trajectories of Children and Adolescents With Disruptive Behavior: Multidisciplinary Approach of Pediatric and Psychiatric Emergencies in the Rhône-Alpes Auvergne Region Recruiting NCT02812537

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:

40
Liver, Spleen, T Cells, Bone, Bone Marrow, Thyroid, Breast

Publications for Autoimmune Lymphoproliferative Syndrome

Articles related to Autoimmune Lymphoproliferative Syndrome:

(show top 50) (show all 3344)
# Title Authors PMID Year
1
Autoimmune lymphoproliferative syndrome with somatic Fas mutations. 25 57 6 61 54
15459302 2004
2
Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. 61 54 57 6 25
8787672 1996
3
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. 61 54 6 25 57
7540117 1995
4
Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease? 57 61 6 25
10709732 2000
5
Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. 57 6 61 54
9028321 1997
6
Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. 6 57 25
7539157 1995
7
The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. 54 25 57 61
11418480 2001
8
Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations. 61 6 54 25
10515860 1999
9
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. 54 61 25 6
10412980 1999
10
Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance. 6 25 54 61
10090885 1999
11
Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia. 54 25 61 6
10200300 1999
12
The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis. 54 61 6 25
9821419 1998
13
Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans. 61 6 25
23430113 2013
14
FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. 61 25 6
21490157 2011
15
Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. 25 57 61
21183795 2011
16
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome. 61 25 57
20360470 2010
17
Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations. 61 6 25
10875918 2000
18
Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity. 6 57
8929361 1996
19
Chronic lymphadenopathy simulating malignant lymphoma. 57 6
4165068 1967
20
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ. 6 25
23319571 2013
21
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma. 6 54 61
15459303 2004
22
Somatic Fas mutations in non-Hodgkin's lymphoma: association with extranodal disease and autoimmunity. 54 61 57
9787134 1998
23
Human autoimmune lymphoproliferative syndrome, a defect in the apoptosis-inducing Fas receptor: a lesson from the mouse model. 57 61 54
9609991 1998
24
Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. 61 54 57
9028957 1997
25
A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. 25 57
1386609 1992
26
Autoimmune pancreatitis in the autoimmune lymphoproliferative syndrome (ALPS): a sheep in wolves' clothing? 6 61
23407489 2013
27
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance. 6 61
22237435 2012
28
Advances in the management and understanding of autoimmune lymphoproliferative syndrome (ALPS). 57 61
19930184 2010
29
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. 25 61 54
19176318 2009
30
Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome. 25 54 61
17999750 2007
31
Dominant inhibition of Fas ligand-mediated apoptosis due to a heterozygous mutation associated with autoimmune lymphoproliferative syndrome (ALPS) Type Ib. 25 54 61
17605793 2007
32
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. 25 61 54
16446975 2006
33
Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome. 54 25 61
16291365 2005
34
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. 61 54 25
15870181 2005
35
Bilateral uveitis in a patient with autoimmune lymphoproliferative syndrome. 61 57
15767081 2005
36
Development of lymphoma in Autoimmune Lymphoproliferative Syndrome (ALPS) and its relationship to Fas gene mutations. 25 61 54
15160902 2004
37
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency. 61 54 25
12353035 2002
38
Caspase-10 is an initiator caspase in death receptor signaling. 54 61 25
11717445 2001
39
Description of serologic features in autoimmune lymphoproliferative syndrome. 25 54 61
10960521 2000
40
Pathological findings in human autoimmune lymphoproliferative syndrome. 54 61 25
9811346 1998
41
Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial. 25 61
26504182 2016
42
Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. 61 25
26456038 2016
43
Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. 61 25
26334989 2015
44
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. 61 25
25451160 2014
45
Autoimmune lymphoproliferative syndrome: an update and review of the literature. 25 61
25086580 2014
46
Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients. 61 25
24970930 2014
47
Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. 61 25
24398331 2014
48
IL-17 protects T cells from apoptosis and contributes to development of ALPS-like phenotypes. 25 61
24363402 2014
49
Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia. 61 25
23850805 2013
50
The expanding spectrum of the autoimmune lymphoproliferative syndromes. 61 25
24240292 2013

Variations for Autoimmune Lymphoproliferative Syndrome

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome:

6 (show top 50) (show all 587)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FAS NM_000043.6(FAS):c.569-2A>C SNV Pathogenic 16500 rs606231363 GRCh37: 10:90771754-90771754
GRCh38: 10:89011997-89011997
2 FAS NM_000043.6(FAS):c.361C>T (p.Arg121Trp) SNV Pathogenic 16502 rs121913078 GRCh37: 10:90768672-90768672
GRCh38: 10:89008915-89008915
3 FAS NM_000043.6(FAS):c.651+2T>A SNV Pathogenic 16507 rs267607122 GRCh37: 10:90771840-90771840
GRCh38: 10:89012083-89012083
4 FAS NM_000043.6(FAS):c.651+2T>C SNV Pathogenic 16514 rs267607122 GRCh37: 10:90771840-90771840
GRCh38: 10:89012083-89012083
5 FAS NM_000043.6(FAS):c.334+2dup Duplication Pathogenic 16498 rs606231362 GRCh37: 10:90767595-90767596
GRCh38: 10:89007838-89007839
6 PRKCD NM_006254.4(PRKCD):c.1352+1G>A SNV Pathogenic 89076 rs398122958 GRCh37: 3:53220712-53220712
GRCh38: 3:53186696-53186696
7 PRKCD NM_006254.4(PRKCD):c.1528G>A (p.Gly510Ser) SNV Pathogenic 157674 rs606231296 GRCh37: 3:53222848-53222848
GRCh38: 3:53188832-53188832
8 PRKCD NM_006254.4(PRKCD):c.1840C>T (p.Arg614Trp) SNV Pathogenic 157675 rs606231297 GRCh37: 3:53223985-53223985
GRCh38: 3:53189969-53189969
9 FAS NM_000043.6(FAS):c.232del (p.Asp78fs) Deletion Pathogenic 16497 rs606231361 GRCh37: 10:90767489-90767489
GRCh38: 10:89007732-89007732
10 FAS NM_000043.6(FAS):c.721A>C (p.Thr241Pro) SNV Pathogenic 16499 rs121913076 GRCh37: 10:90773920-90773920
GRCh38: 10:89014163-89014163
11 FAS NM_000043.6(FAS):c.779A>T (p.Asp260Val) SNV Pathogenic 16504 rs28929498 GRCh37: 10:90773978-90773978
GRCh38: 10:89014221-89014221
12 FAS NM_000043.6(FAS):c.809C>T (p.Thr270Ile) SNV Pathogenic 16506 rs121913081 GRCh37: 10:90774008-90774008
GRCh38: 10:89014251-89014251
13 FAS NM_000043.6(FAS):c.740G>C (p.Gly247Ala) SNV Pathogenic 16513 rs121913085 GRCh37: 10:90773939-90773939
GRCh38: 10:89014182-89014182
14 FAS NM_000043.6(FAS):c.778G>T (p.Asp260Tyr) SNV Pathogenic 16516 rs121913086 GRCh37: 10:90773977-90773977
GRCh38: 10:89014220-89014220
15 PRKCD NM_006254.4(PRKCD):c.571C>T (p.Gln191Ter) SNV Pathogenic 958249 GRCh37: 3:53215748-53215748
GRCh38: 3:53181732-53181732
16 FAS NM_000043.6(FAS):c.73G>A (p.Ala25Thr) SNV Pathogenic 16508 rs606231364 GRCh37: 10:90762828-90762828
GRCh38: 10:89003071-89003071
17 FAS NM_000043.6(FAS):c.968_987dup (p.Glu330fs) Duplication Pathogenic 16509 rs606231365 GRCh37: 10:90774166-90774167
GRCh38: 10:89014409-89014410
18 FAS NM_000043.6(FAS):c.692_693insT (p.Lys231fs) Insertion Pathogenic 16515 rs606231366 GRCh37: 10:90773891-90773892
GRCh38: 10:89014134-89014135
19 CASP10 NM_032977.3(CASP10):c.853C>T (p.Leu285Phe) SNV Pathogenic 7764 rs17860403 GRCh37: 2:202072837-202072837
GRCh38: 2:201208114-201208114
20 FASLG NM_000639.3(FASLG):c.473_556del (p.Met158_Glu185del) Deletion Pathogenic 16495 rs80358236 GRCh37: 1:172634782-172634865
GRCh38: 1:172665642-172665725
21 FAS NM_000043.6(FAS):c.817C>T (p.Gln273Ter) SNV Pathogenic 16501 rs121913077 GRCh37: 10:90774016-90774016
GRCh38: 10:89014259-89014259
22 FAS NM_000043.6(FAS):c.695A>G (p.Tyr232Cys) SNV Pathogenic 16503 rs121913079 GRCh37: 10:90773894-90773894
GRCh38: 10:89014137-89014137
23 FAS NM_000043.6(FAS):c.749G>C (p.Arg250Pro) SNV Pathogenic 16505 rs121913080 GRCh37: 10:90773948-90773948
GRCh38: 10:89014191-89014191
24 FASLG NM_000639.3(FASLG):c.263del (p.Phe88fs) Deletion Pathogenic 156103 rs587776450 GRCh37: 1:172628600-172628600
GRCh38: 1:172659460-172659460
25 FAS NM_000043.6(FAS):c.755del (p.Asn252fs) Deletion Pathogenic 578533 rs1564699214 GRCh37: 10:90773953-90773953
GRCh38: 10:89014196-89014196
26 FAS NM_000043.6(FAS):c.110T>A (p.Leu37Ter) SNV Pathogenic 580709 rs1564686301 GRCh37: 10:90762865-90762865
GRCh38: 10:89003108-89003108
27 FAS NM_000043.6(FAS):c.651+1G>T SNV Pathogenic 650729 rs1564696849 GRCh37: 10:90771839-90771839
GRCh38: 10:89012082-89012082
28 FAS NM_000043.6(FAS):c.652-1G>A SNV Pathogenic 664079 rs1589488463 GRCh37: 10:90773099-90773099
GRCh38: 10:89013342-89013342
29 FAS NM_000043.6(FAS):c.657_658del (p.Val220fs) Deletion Pathogenic 692047 rs1589488494 GRCh37: 10:90773105-90773106
GRCh38: 10:89013348-89013349
30 FAS NM_000043.6(FAS):c.676+1G>A SNV Pathogenic 645697 rs1589488640 GRCh37: 10:90773125-90773125
GRCh38: 10:89013368-89013368
31 FAS NM_000043.6(FAS):c.178del (p.His60fs) Deletion Pathogenic 802617 rs1589465172 GRCh37: 10:90762932-90762932
GRCh38: 10:89003175-89003175
32 FAS NM_000043.6(FAS):c.415del (p.Val139fs) Deletion Pathogenic 802618 rs1589478691 GRCh37: 10:90768726-90768726
GRCh38: 10:89008969-89008969
33 FAS NM_000043.6(FAS):c.651+2_651+3insTGAAAT Insertion Pathogenic 802619 rs1589485636 GRCh37: 10:90771839-90771840
GRCh38: 10:89012082-89012083
34 FAS NM_000043.6(FAS):c.748C>T (p.Arg250Ter) SNV Pathogenic 802620 rs778993919 GRCh37: 10:90773947-90773947
GRCh38: 10:89014190-89014190
35 overlap with 5 genes NC_000010.11:g.(?_88989499)_(89247668_?)del Deletion Pathogenic 831277 GRCh37: 10:90749256-91007425
GRCh38:
36 overlap with 11 genes NC_000010.11:g.(?_88770845)_(89328078_?)del Deletion Pathogenic 832890 GRCh37: 10:90530602-91087835
GRCh38:
37 FAS NM_000043.6(FAS):c.38del (p.Thr13fs) Deletion Pathogenic 851315 GRCh37: 10:90762793-90762793
GRCh38: 10:89003036-89003036
38 FAS NM_000043.6(FAS):c.617del (p.Asn206fs) Deletion Pathogenic 847065 GRCh37: 10:90771801-90771801
GRCh38: 10:89012044-89012044
39 FAS NM_000043.6(FAS):c.817C>T (p.Gln273Ter) SNV Pathogenic 16501 rs121913077 GRCh37: 10:90774016-90774016
GRCh38: 10:89014259-89014259
40 FAS NM_000043.6(FAS):c.563_566del (p.Val188fs) Deletion Pathogenic 861416 GRCh37: 10:90770564-90770567
GRCh38: 10:89010807-89010810
41 CASP10 NM_032977.4(CASP10):c.477del (p.Gly160fs) Deletion Pathogenic 953582 GRCh37: 2:202057741-202057741
GRCh38: 2:201193018-201193018
42 CASP10 NM_032976.3(CASP10):c.*288_*294del Deletion Pathogenic 535760 rs747900630 GRCh37: 2:202074072-202074078
GRCh38: 2:201209349-201209355
43 FAS NM_000043.6(FAS):c.651+1G>A SNV Pathogenic/Likely pathogenic 573761 rs1564696849 GRCh37: 10:90771839-90771839
GRCh38: 10:89012082-89012082
44 FAS NM_000043.6(FAS):c.197-2A>G SNV Likely pathogenic 598753 rs1564691414 GRCh37: 10:90767455-90767455
GRCh38: 10:89007698-89007698
45 FAS NM_000043.6(FAS):c.749G>C (p.Arg250Pro) SNV Likely pathogenic 16505 rs121913080 GRCh37: 10:90773948-90773948
GRCh38: 10:89014191-89014191
46 PRKCD NM_006254.4(PRKCD):c.788-2A>G SNV Likely pathogenic 541623 rs1295207359 GRCh37: 3:53218888-53218888
GRCh38: 3:53184872-53184872
47 CASP10 NM_032977.3(CASP10):c.1216A>C (p.Ile406Leu) SNV Conflicting interpretations of pathogenicity 7769 rs80358239 GRCh37: 2:202074086-202074086
GRCh38: 2:201209363-201209363
48 FASLG NM_000639.3(FASLG):c.176C>T (p.Pro59Leu) SNV Conflicting interpretations of pathogenicity 293732 rs375737004 GRCh37: 1:172628517-172628517
GRCh38: 1:172659377-172659377
49 PRKCD NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp) SNV Conflicting interpretations of pathogenicity 798180 rs35891605 GRCh37: 3:53222767-53222767
GRCh38: 3:53188751-53188751
50 FAS NM_000043.6(FAS):c.580G>A (p.Glu194Lys) SNV Conflicting interpretations of pathogenicity 134374 rs56006128 GRCh37: 10:90771767-90771767
GRCh38: 10:89012010-89012010

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

72 (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:

36
# Name Kegg Source Accession
1 Apoptosis hsa04210

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

(show top 50) (show all 70)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.22 STAT3 RASGRP1 PRKCD NRAS IL2RA IL2
2
Show member pathways
14.04 UNC13D STAT3 RASGRP1 PTPRC PRKCD NRAS
3
Show member pathways
13.89 PRKCD NRAS IL2RA IL2 FASLG FAS
4
Show member pathways
13.73 STAT3 PRKCD NRAS IL2RA IL2 IL10
5
Show member pathways
13.72 STAT3 RASGRP1 PRKCD NRAS IL2RA IL2
6
Show member pathways
13.43 STAT3 PRKCD NRAS IL2RA IL2 IL10
7
Show member pathways
13.42 STAT3 RASGRP1 PRKCD NRAS IL2RA IL2
8
Show member pathways
13.26 PTPRC PRKCD NRAS IL2RA IL2 IL10
9
Show member pathways
13.21 STAT3 NRAS IL2 IL10 FASLG FAS
10
Show member pathways
13.08 PTPRC PRKCD NRAS FASLG FAS FADD
11
Show member pathways
13 NRAS IL2RA IL2 FASLG FAS FADD
12
Show member pathways
12.99 STAT3 NRAS FASLG FAS FADD CASP8
13
Show member pathways
12.98 STAT3 RASGRP1 PTPRC PRKCD NRAS CTLA4
14 12.83 RASGRP1 PRKCD NRAS FASLG FAS CASP8
15
Show member pathways
12.82 STAT3 IL2RA IL2 FASLG FAS FADD
16
Show member pathways
12.78 PTPRC FASLG FAS FADD CASP8
17
Show member pathways
12.76 STAT3 PRKCD NRAS FASLG FAS
18
Show member pathways
12.76 FASLG FAS FADD CASP8 CASP10 BCL2L11
19
Show member pathways
12.72 STAT3 PRKCD NRAS FASLG FAS
20
Show member pathways
12.72 PRF1 IL2RA IL2 IL10 FASLG FAS
21
Show member pathways
12.7 PRF1 NRAS FASLG FAS FADD CASP8
22
Show member pathways
12.68 RASGRP1 PTPRC IL2RA IL2 IL10
23
Show member pathways
12.64 PRKCD FASLG FAS FADD CASP8 CASP10
24
Show member pathways
12.58 PRF1 NRAS IL2 FASLG FAS
25
Show member pathways
12.57 STAT3 PRKCD NRAS CASP8 CASP10
26
Show member pathways
12.5 PRKCD NRAS IL2RA IL2 CASP8 CASP10
27
Show member pathways
12.48 STAT3 PRKCD IL2RA IL2 IL10
28 12.48 STAT3 PTPRC IL2RA IL2 IL10 FASLG
29
Show member pathways
12.47 RASGRP1 PTPRC PRKCD NRAS
30
Show member pathways
12.43 PTPRC PRKCD IL2RA IL2 CTLA4 ACTA2
31
Show member pathways
12.41 FASLG FAS FADD CASP8 CASP10
32
Show member pathways
12.41 STAT3 PRF1 NRAS FASLG FAS FADD
33
Show member pathways
12.37 FASLG FAS FADD CASP8 CASP10
34 12.34 STAT3 NRAS FASLG FAS
35 12.31 FASLG FAS FADD CASP8 BCL2L11
36
Show member pathways
12.3 FASLG FAS CASP8 CASP10
37 12.28 IL10 FADD CASP8 CASP10
38
Show member pathways
12.27 PRKCD NRAS IL2 IL10 CASP8
39
Show member pathways
12.26 STAT3 FASLG FAS FADD CASP8
40
Show member pathways
12.23 PRF1 FASLG FAS FADD CASP8 CASP10
41
Show member pathways
12.15 STAT3 NRAS IL10 FASLG BCL2L11
42
Show member pathways
12.15 STAT3 RASGRP1 PTPRC PRKCD NRAS IL2
43
Show member pathways
12.1 STAT3 IL2RA IL2 CASP8
44
Show member pathways
12.08 PRKCD NRAS FADD CASP8 CASP10
45 12.06 PTPRC IL2RA IL2 IL10
46
Show member pathways
12.05 STAT3 IL2RA IL2 FASLG
47 12.05 STAT3 RASGRP1 NRAS IL2RA IL2 FASLG
48 12.04 FAS FADD CASP8 CASP10
49 12 RASGRP1 NRAS CASP8 CASP10
50
Show member pathways
11.89 PRKCD NRAS CASP8 CASP10

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 external side of plasma membrane GO:0009897 9.72 PTPRC IL2RA FASLG FAS CTLA4
2 membrane raft GO:0045121 9.65 PTPRC FASLG FAS FADD CASP8
3 cell body GO:0044297 9.54 FADD CASP8 ACTA2
4 death-inducing signaling complex GO:0031264 9.33 FAS FADD CASP8
5 ripoptosome GO:0097342 9.13 FADD CASP8 CASP10
6 CD95 death-inducing signaling complex GO:0031265 8.92 FAS FADD CASP8 CASP10

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

(show all 43)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 10.06 IL2RA IL2 IL10 FASLG FAS CTLA4
2 cell surface receptor signaling pathway GO:0007166 10.02 PTPRC IL2RA FADD CASP8 CASP10
3 cytokine-mediated signaling pathway GO:0019221 10.01 STAT3 IL2RA IL2 IL10 FASLG
4 MAPK cascade GO:0000165 9.99 RASGRP1 NRAS IL2RA IL2
5 defense response to virus GO:0051607 9.97 UNC13D PTPRC PRF1 FADD
6 regulation of apoptotic process GO:0042981 9.97 FAS FADD CASP8 CASP10 BCL2L11
7 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.95 FASLG FADD CASP8 CASP10
8 negative regulation of inflammatory response GO:0050728 9.89 PRKCD MIR146A IL2RA IL2 IL10
9 positive regulation of apoptotic process GO:0043065 9.87 MIR146A FASLG FAS FADD CTLA4 CASP8
10 cellular response to mechanical stimulus GO:0071260 9.85 FAS FADD CASP8
11 positive regulation of interferon-gamma production GO:0032729 9.84 RASGRP1 IL2 FADD
12 positive regulation of tumor necrosis factor production GO:0032760 9.84 STAT3 RASGRP1 PTPRC FADD
13 positive regulation of T cell proliferation GO:0042102 9.83 PTPRC IL2RA IL2
14 T cell activation GO:0042110 9.81 RASGRP1 PTPRC CASP8
15 negative regulation of T cell proliferation GO:0042130 9.8 IL2RA IL10 CTLA4
16 extrinsic apoptotic signaling pathway GO:0097191 9.78 FASLG FAS FADD CASP8
17 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.77 FASLG FADD CASP8
18 T cell homeostasis GO:0043029 9.75 IL2RA FADD BCL2L11
19 positive regulation of activated T cell proliferation GO:0042104 9.73 IL2RA IL2 FADD
20 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.73 FASLG FAS FADD CASP8
21 natural killer cell activation GO:0030101 9.72 RASGRP1 IL2 CASP8
22 B cell proliferation GO:0042100 9.71 RASGRP1 PTPRC PRKCD IL10
23 positive regulation of T cell differentiation GO:0045582 9.7 PTPRC IL2RA IL2
24 negative regulation of immune response GO:0050777 9.69 IL2RA CTLA4
25 regulation of regulatory T cell differentiation GO:0045589 9.69 IL2RA IL2 CTLA4
26 positive regulation of macrophage differentiation GO:0045651 9.68 FADD CASP8
27 toll-like receptor 3 signaling pathway GO:0034138 9.68 FADD CASP8
28 interleukin-2-mediated signaling pathway GO:0038110 9.68 IL2RA IL2
29 positive regulation of isotype switching to IgG isotypes GO:0048304 9.67 PTPRC IL2
30 death-inducing signaling complex assembly GO:0071550 9.67 FADD CASP8
31 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.67 IL2 FAS FADD BCL2L11
32 regulation of necroptotic process GO:0060544 9.65 FADD CASP8
33 negative regulation of lymphocyte proliferation GO:0050672 9.65 IL2RA IL2
34 apoptotic signaling pathway GO:0097190 9.65 FASLG FAS FADD CASP8 CASP10
35 TRAIL-activated apoptotic signaling pathway GO:0036462 9.64 FADD CASP8
36 activation-induced cell death of T cells GO:0006924 9.64 IL2RA FAS
37 necroptotic signaling pathway GO:0097527 9.63 FASLG FAS FADD
38 motor neuron apoptotic process GO:0097049 9.62 FAS FADD
39 positive regulation of plasma cell differentiation GO:1900100 9.61 IL2 IL10
40 apoptotic process GO:0006915 9.61 PRKCD PRF1 IL2RA FASLG FAS FADD
41 regulation of T cell homeostatic proliferation GO:0046013 9.6 IL2RA IL2
42 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.46 FASLG FAS FADD CASP8
43 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.1 FASLG FAS FADD CASP8 CASP10 BCL2L11

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.63 STAT3 PTPRC PRKCD LRBA BCL2L11 ACTA2
2 tumor necrosis factor receptor binding GO:0005164 9.43 FASLG FADD CASP8
3 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.4 CASP8 CASP10
4 cysteine-type endopeptidase activity involved in execution phase of apoptosis GO:0097200 9.37 CASP8 CASP10
5 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.32 CASP8 CASP10
6 death receptor binding GO:0005123 9.13 FASLG FADD CASP8
7 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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