ALPS1A
MCID: ATM006
MIFTS: 71

Autoimmune Lymphoproliferative Syndrome (ALPS1A)

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 58 12 25 54 26 60 30 56 6 45 15 41 74
Canale-Smith Syndrome 58 12 54 26 60 76
Alps 58 12 25 54 26 60
Autoimmune Lymphoproliferative Syndrome, Type Ia 58 13 74
Autoimmune Lymphoproliferative Syndrome, Type Ib 58 74
Autoimmune Lymphoproliferative Syndrome, Type 1b 30 6
Autoimmune Lymphoproliferative Syndrome, Type 1a 30 6
Fas Deficiency 54 60
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant 58
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant 54
Autoimmune Lymphoproliferative Syndrome Type Ia 76
Autoimmune Lymphoproliferative Syndrome Type Ib 76
Autoimmune Lymphoproliferative Syndrome 1a 76
Autoimmune Lymphoproliferative Syndrome 1b 76
Autoimmune Lymphoproliferative Syndromes 38
Alps1a 76
Alps1b 76
Css 76

Characteristics:

Orphanet epidemiological data:

60
autoimmune lymphoproliferative syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
recessive inheritance has been reported


HPO:

33
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:



External Ids:

Disease Ontology 12 DOID:6688
OMIM 58 601859
KEGG 38 H00108
ICD9CM 36 279.41
MeSH 45 D056735
NCIt 51 C37864
ICD10 34 D89.82
MESH via Orphanet 46 D056735
ICD10 via Orphanet 35 D47.9
UMLS via Orphanet 75 C1328840
Orphanet 60 ORPHA3261

Summaries for Autoimmune Lymphoproliferative Syndrome

NIH Rare Diseases : 54 Autoimmune lymphoproliferative syndrome (ALPS) is a disorder in which the body cannot properly regulate the number of immune systemcells (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.

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, also known as canale-smith syndrome, is related to autoimmune lymphoproliferative syndrome, type iii and lymphoproliferative syndrome. An important gene associated with Autoimmune Lymphoproliferative Syndrome is FASLG (Fas Ligand), and among its related pathways/superpathways are Apoptosis and Signaling by GPCR. The drugs Valproic Acid and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include lymph node, liver and spleen, and related phenotypes are splenomegaly and hepatomegaly

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

Genetics Home Reference : 26 Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). ALPS is characterized by the production of an abnormally large number of lymphocytes (lymphoproliferation). Accumulation of excess lymphocytes results in enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly).

OMIM : 58 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)

UniProtKB/Swiss-Prot : 76 Autoimmune lymphoproliferative syndrome 1A: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia.

Wikipedia : 77 Autoimmune lymphoproliferative syndrome (ALPS), also known as Canale-Smith syndrome, is a form of... more...

GeneReviews: NBK1108

Related Diseases for Autoimmune Lymphoproliferative Syndrome

Diseases in the Lymphoproliferative Syndrome family:

Autoimmune Lymphoproliferative Syndrome Autoimmune Lymphoproliferative Syndrome, Type Iia
Lymphoproliferative Syndrome 1 Lymphoproliferative Syndrome 2
Autoimmune Lymphoproliferative Syndrome, Type Iii Autoimmune Lymphoproliferative Syndrome, Type V
Lymphoproliferative Syndrome 3 Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency
Autosomal Recessive Lymphoproliferative Disease

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

(show top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 autoimmune lymphoproliferative syndrome, type iii 34.9 CASP10 FASLG PRKCD
2 lymphoproliferative syndrome 31.4 CASP10 CASP8 CTLA4 FAS FASLG IL2
3 uveitis 30.4 CTLA4 IL10 IL2RA
4 chronic active epstein-barr virus infection 30.4 CTLA4 IL10 IL2
5 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 30.2 IL10 IL2 IL2RA
6 common variable immunodeficiency 30.2 CTLA4 FAS IL10 IL2 IL2RA LRBA
7 hemophagocytic lymphohistiocytosis 30.1 FAS IL10 IL2RA PRF1 UNC13D
8 autoimmune disease 30.1 CTLA4 FAS IL10 IL2 IL2RA
9 alopecia areata 30.0 CTLA4 FASLG IL2 IL2RA
10 systemic lupus erythematosus 29.7 CTLA4 FAS FASLG IL10 IL2 IL2RA
11 lymphoma, non-hodgkin, familial 29.7 CASP10 CASP8 FAS IL2 IL2RA NRAS
12 autoimmune lymphoproliferative syndrome, type iia 12.8
13 autoimmune lymphoproliferative syndrome, type v 12.6
14 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency 12.4
15 caspase 8 deficiency 12.1
16 ras-associated autoimmune leukoproliferative disorder 12.1
17 dianzani autoimmune lymphoproliferative disease 11.5
18 eosinophilic granulomatosis with polyangiitis 11.4
19 coffin-siris syndrome 1 11.4
20 infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations 11.2
21 lrba deficiency 10.5 CTLA4 LRBA
22 giant congenital nevus 10.5 HRAS NRAS
23 chronic venous leg ulcers 10.5 FAS FASLG
24 epstein-barr virus-associated gastric carcinoma 10.4 FAS FASLG IL10
25 type ii mixed cryoglobulinemia 10.4 FAS FASLG
26 thyroiditis 10.4 CTLA4 FASLG IL2
27 hypersensitivity reaction type iv disease 10.4 CASP10 FAS IL2
28 pneumoconiosis 10.4 CASP8 FAS FASLG
29 post-transplant lymphoproliferative disease 10.4 CASP8 FADD IL10
30 vulvar melanoma 10.4 CTLA4 HRAS NRAS
31 churg-strauss syndrome 10.4
32 allergic angiitis 10.4
33 hyperlucent lung 10.4 IL10 IL2RA
34 malignant skin fibrous histiocytoma 10.4 CTLA4 HRAS NRAS
35 malignant dermis tumor 10.4 CTLA4 HRAS NRAS
36 idiopathic neutropenia 10.4 FASLG IL10 IL2RA
37 hematopoietic stem cell transplantation 10.4 CTLA4 IL10 IL2
38 benign struma ovarii 10.4 HRAS NRAS
39 multisystemic smooth muscle dysfunction syndrome 10.4 ACTA2 FAS
40 vogt-koyanagi-harada disease 10.4 FAS IL10 IL2RA
41 paracoccidioidomycosis 10.4 CTLA4 IL10 IL2
42 hashimoto thyroiditis 10.4 CTLA4 FAS FASLG IL2RA
43 filariasis 10.3 CTLA4 IL10 IL2
44 intermediate uveitis 10.3 IL10 IL2 IL2RA
45 exanthem 10.3 CTLA4 HRAS IL2
46 b-cell expansion with nfkb and t-cell anergy 10.3 FASLG IL2 IL2RA
47 t cell deficiency 10.3 IL2 LRBA PTPRC
48 lymphoma 10.3
49 graft-versus-host disease 10.3 FAS FASLG IL10 IL2
50 brucellosis 10.3 IL10 IL2 IL2RA

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



Diseases related to Autoimmune Lymphoproliferative Syndrome

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome:

33 (show all 25)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 hepatomegaly 33 HP:0002240
3 iron deficiency anemia 33 HP:0001891
4 urticaria 33 HP:0001025
5 vasculitis 33 HP:0002633
6 eosinophilia 33 HP:0001880
7 autoimmune hemolytic anemia 33 HP:0001890
8 autoimmune thrombocytopenia 33 HP:0001973
9 increased igg level 33 HP:0003237
10 smooth muscle antibody positivity 33 HP:0003262
11 antineutrophil antibody positivity 33 HP:0003453
12 antinuclear antibody positivity 33 HP:0003493
13 increased igm level 33 HP:0003496
14 increased iga level 33 HP:0003261
15 antiphospholipid antibody positivity 33 HP:0003613
16 follicular hyperplasia 33 HP:0002729
17 chronic noninfectious lymphadenopathy 33 HP:0002730
18 rheumatoid factor positive 33 HP:0002923
19 coombs-positive hemolytic anemia 33 HP:0004844
20 reduced delayed hypersensitivity 33 HP:0002972
21 platelet antibody positive 33 HP:0003454
22 neutropenia in presence of anti-neutropil antibodies 33 HP:0001904
23 decreased lymphocyte apoptosis 33 HP:0002731
24 elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells 33 HP:0002851
25 increased proportion of hla dr+ t cells 33 HP:0002853

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

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

Immunology:
chronic noninfectious lymphadenopathy
defective lymphocyte apoptosis
increased number of peripheral cd3+ t cells
increased number of cd4-/cd8- t cells expressing alpha/beta t-cell receptors
increased proportion of hla dr+ and cd57+ t cells
more
Neoplasia:
increased risk of malignant lymphoma

Abdomen Liver:
hepatomegaly

Skin Nails Hair Skin:
urticaria
vasculitis rash

Laboratory Abnormalities:
rheumatoid factor positive
increased levels of igg
increased levels of iga
increased levels of igm
direct coombs positive
more

Clinical features from OMIM:

601859

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.89 BCL2L11 CASP8 FADD FAS IL10 IL2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.89 BCL2L11 CASP8 FADD FAS IL10 IL2
3 Reduced mammosphere formation GR00396-S 9.5 FADD FAS FASLG HRAS IL2RA NRAS

MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome:

47 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.45 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
2 hematopoietic system MP:0005397 10.45 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
3 cardiovascular system MP:0005385 10.42 ACTA2 BCL2L11 CASP8 CTLA4 FADD FAS
4 immune system MP:0005387 10.42 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
5 homeostasis/metabolism MP:0005376 10.41 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
6 cellular MP:0005384 10.35 BCL2L11 CASP8 FADD FAS FASLG IL10
7 growth/size/body region MP:0005378 10.35 BCL2L11 CASP8 FADD FAS HRAS IL10
8 digestive/alimentary MP:0005381 10.34 CTLA4 FADD FAS FASLG HRAS IL10
9 mortality/aging MP:0010768 10.31 BCL2L11 CASP8 CTLA4 FADD FAS FASLG
10 liver/biliary system MP:0005370 10.27 CASP8 CTLA4 FADD FAS FASLG IL10
11 integument MP:0010771 10.18 BCL2L11 CASP8 CTLA4 FAS FASLG HRAS
12 nervous system MP:0003631 10.11 BCL2L11 CASP8 FADD FAS FASLG HRAS
13 neoplasm MP:0002006 10.1 BCL2L11 CASP8 FAS FASLG HRAS IL10
14 no phenotypic analysis MP:0003012 9.92 BCL2L11 FADD HRAS IL10 IL2 NRAS
15 normal MP:0002873 9.91 BCL2L11 CTLA4 FAS FASLG HRAS IL10
16 renal/urinary system MP:0005367 9.81 BCL2L11 CASP8 FAS FASLG HRAS PRKCD
17 respiratory system MP:0005388 9.65 CASP8 CTLA4 FAS FASLG HRAS IL10
18 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 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic Acid Approved, Investigational Phase 1, Phase 2 99-66-1 3121
2
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
3
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 46835353 6436030 5284616
4
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
5
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751
6
Melphalan Approved Phase 2 148-82-3 460612 4053
7
alemtuzumab Approved, Investigational Phase 2 216503-57-0
8
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
9
Hydroxyurea Approved Phase 2 127-07-1 3657
10 Antimanic Agents Phase 1, Phase 2
11 Central Nervous System Depressants Phase 1, Phase 2
12 Psychotropic Drugs Phase 1, Phase 2
13 Neurotransmitter Agents Phase 1, Phase 2
14 Anticonvulsants Phase 1, Phase 2
15 GABA Agents Phase 1, Phase 2
16 Tranquilizing Agents Phase 1, Phase 2
17 Antifungal Agents Phase 1, Phase 2
18 Antibiotics, Antitubercular Phase 1, Phase 2
19 Immunologic Factors Phase 1, Phase 2,Phase 2
20 Immunosuppressive Agents Phase 1, Phase 2,Phase 2
21 Anti-Infective Agents Phase 1, Phase 2
22 Anti-Bacterial Agents Phase 1, Phase 2
23 Antineoplastic Agents, Alkylating Phase 2
24 Antimetabolites Phase 2
25 Antineoplastic Agents, Immunological Phase 2
26 Antimetabolites, Antineoplastic Phase 2
27 Alkylating Agents Phase 2
28 Nucleic Acid Synthesis Inhibitors Phase 2
29
Pyrimethamine Approved, Investigational, Vet_approved Phase 1 58-14-0 4993
30
leucovorin Approved Phase 1 58-05-9 6006 143
31
Levoleucovorin Approved, Investigational Phase 1 68538-85-2
32
Sulfadoxine Approved, Investigational Phase 1 2447-57-6 17134
33
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1 59-30-3 6037
34 Vitamin B Complex Phase 1
35 Antimalarials Phase 1
36 Vitamin B9 Phase 1
37 Folate Phase 1
38 Antiparasitic Agents Phase 1
39 Antiprotozoal Agents Phase 1
40 Folic Acid Antagonists Phase 1
41 Renal Agents Phase 1
42 Anti-Infective Agents, Urinary Phase 1
43 Fanasil, pyrimethamine drug combination Phase 1
44 Antiviral Agents
45 Fluorodeoxyglucose F18
46 Deoxyglucose
47 Radiopharmaceuticals
48 Immunoglobulins
49 Immunoglobulin G
50 Vaccines

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Valproic Acid (Depakote[Registered Trademark]) to Treat Autoimmune Lymphoproliferative Syndrome (ALPS) Completed NCT00605657 Phase 1, Phase 2 Valproic Acid
2 Sirolimus for Autoimmune Disease of Blood Cells Active, not recruiting NCT00392951 Phase 1, Phase 2 sirolimus
3 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
4 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
5 Pyrimethamine to Treat Autoimmune Lymphoproliferative Syndrome Completed NCT00065390 Phase 1 Pyrimethamine
6 Pyrimethamine and Sulfadoxine for Treatment of Autoimmune Lymphoproliferative Syndrome Completed NCT00013689 Phase 1 Fansidar (pyrimethamine and sulfadoxine)
7 Study of Autoimmune Lymphoproliferative Syndrome (ALPS) Recruiting NCT00001350
8 Fluorodeoxyglucose-Positron Emission Tomography (FDG-PET) to Evaluate Autoimmune Lymphoproliferative Syndrome (ALPS) and ALPS-associated Lymphoma Completed NCT00068146
9 Fluorodeoxyglucose Imaging Studies to Detect Lymphoma Withdrawn NCT01672918
10 Comparative Autoantibody and Immunologic Cell Marker Study Enrolling by invitation NCT02422875

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 30 FAS FASLG
2 Autoimmune Lymphoproliferative Syndrome, Type 1b 30 FASLG
3 Autoimmune Lymphoproliferative Syndrome, Type 1a 30

Anatomical Context for Autoimmune Lymphoproliferative Syndrome

MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome:

42
Lymph Node, Liver, Spleen, T Cells, Skin, Kidney, Eye

Publications for Autoimmune Lymphoproliferative Syndrome

Articles related to Autoimmune Lymphoproliferative Syndrome:

(show top 50) (show all 216)
# Title Authors Year
1
Case report of a molar-root incisor malformation in a patient with an autoimmune lymphoproliferative syndrome. ( 30902077 )
2019
2
The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions. ( 29911256 )
2018
3
Possible Association of Multicentric Castleman's Disease with Autoimmune Lymphoproliferative Syndrome. ( 29682404 )
2018
4
Low-dose sirolimus in two cousins with autoimmune lymphoproliferative syndrome-associated infection. ( 29480551 )
2018
5
Gray platelet syndrome mimicking atypical autoimmune lymphoproliferative syndrome: the key is in the blood smear. ( 29903870 )
2018
6
Synergistic defects of novo FAS and homozygous UNC13D leading to autoimmune lymphoproliferative syndrome-like disease: A 10-year-old Chinese boy case report. ( 29864493 )
2018
7
Autoimmune Lymphoproliferative Syndrome-FAS Patients Have an Abnormal Regulatory T Cell (Treg) Phenotype but Display Normal Natural Treg-Suppressive Function on T Cell Proliferation. ( 29686686 )
2018
8
Deficiency of ADA2 mimicking autoimmune lymphoproliferative syndrome in the absence of livedo reticularis and vasculitis. ( 29271561 )
2018
9
EBV Negative Lymphoma and Autoimmune Lymphoproliferative Syndrome Like Phenotype Extend the Clinical Spectrum of Primary Immunodeficiency Caused by STK4 Deficiency. ( 30386345 )
2018
10
IgG4-related disease in autoimmune lymphoproliferative syndrome. ( 28478106 )
2017
11
TCF1 deficiency ameliorates autoimmune lymphoproliferative syndrome (ALPS)-like phenotypes of lpr/lpr mice. ( 28349581 )
2017
12
Lymphadenopathy driven by TCR-V<sub>I^</sub>8V<sub>I'</sub>1 T-cell expansion in FAS-related autoimmune lymphoproliferative syndrome. ( 29296752 )
2017
13
Novel insights into FAS defects underlying autoimmune lymphoproliferative syndrome revealed by studies in consanguineous patients. ( 29345341 )
2017
14
RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease. ( 29155103 )
2017
15
STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds. ( 28579554 )
2017
16
Frequency of a FAS ligand gene variant associated with inherited feline autoimmune lymphoproliferative syndrome in British shorthair cats in New Zealand. ( 28814155 )
2017
17
Pearls and pitfalls: Autoimmune lymphoproliferative syndrome and autoimmune lymphoproliferative syndrome-like disease. ( 28668112 )
2017
18
Autoimmune lymphoproliferative syndrome caused by homozygous FAS mutations with normal or residual protein expression. ( 28087326 )
2017
19
A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. ( 27770190 )
2017
20
Autoimmune Lymphoproliferative Syndrome Masquerading as Posttransplant Lymphoproliferative Disorder. ( 28991130 )
2017
21
Rare splicing defects of FAS underly severe recessive autoimmune lymphoproliferative syndrome. ( 28668589 )
2017
22
Use of Sirolimus (Rapamycin) for Treatment of Cytopenias and Lymphoproliferation Linked to Autoimmune Lymphoproliferative Syndrome (ALPS). Two Case Reports. ( 28234735 )
2017
23
Autoimmune lymphoproliferative syndrome: more than a FAScinating disease. ( 29123652 )
2017
24
Erratum to: A FAS-ligand variant associated with autoimmune lymphoproliferative syndrome in cats. ( 28101633 )
2017
25
Autoimmune Lymphoproliferative Syndrome: A Rare Cause of Disappearing HDL Syndrome. ( 27579193 )
2016
26
Optimal Management of Autoimmune Lymphoproliferative Syndrome in Children. ( 27139496 )
2016
27
CORRIGENDUM to Abnormal thymic maturation and lymphoproliferation in MRL-Faslpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome. ( 27940897 )
2016
28
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome. ( 27789675 )
2016
29
Ocular Inflammatory Disorders in Autoimmune Lymphoproliferative Syndrome (ALPS). ( 27229379 )
2016
30
Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation. ( 27846610 )
2016
31
Atypical presentation of autoimmune lymphoproliferative syndrome due to CASP10 mutation. ( 27378136 )
2016
32
Pulmonary Manifestations of the Autoimmune Lymphoproliferative Syndrome. A Retrospective Study of a Unique Patient Cohort. ( 27268092 )
2016
33
Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation. ( 26323380 )
2016
34
Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. ( 27845235 )
2016
35
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome. ( 26907631 )
2016
36
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome. ( 27099149 )
2016
37
Abnormal thymic maturation and lymphoproliferation in MRL-Faslpr/lpr mice can be partially reversed by synthetic oligonucleotides: implications for systemic lupus erythematosus and autoimmune lymphoproliferative syndrome. ( 27837196 )
2016
38
Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS). ( 27060458 )
2016
39
Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient. ( 27979843 )
2016
40
Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease. ( 26113417 )
2015
41
Decreased activation-induced cell death by EBV-transformed B cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. ( 26334989 )
2015
42
Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation. ( 25931386 )
2015
43
Approaches to Managing Autoimmune Cytopenias in Novel Immunological Disorders with Genetic Underpinnings Like Autoimmune Lymphoproliferative Syndrome. ( 26258116 )
2015
44
Janus Kinase Inhibitor Tofacitinib Shows Potent Efficacy in a Mouse Model of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 26453583 )
2015
45
FAS Haploinsufficiency Caused by Extracellular Missense Mutations Underlying Autoimmune Lymphoproliferative Syndrome. ( 26563159 )
2015
46
Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. ( 26456038 )
2015
47
Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS). ( 25663566 )
2015
48
Adult onset autoimmune lymphoproliferative syndrome due to somatic FAS mutation. ( 25827517 )
2015
49
Autoimmune Lymphoproliferative Syndrome with Red Cell Aplasia. ( 25972287 )
2015
50
Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome. ( 26472737 )
2015

Variations for Autoimmune Lymphoproliferative Syndrome

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

76 (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

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome:

6 (show top 50) (show all 386)
# Gene Variation Type Significance SNP ID Assembly Location
1 FAS NM_000043.5(FAS): c.369G> A (p.Gln123=) single nucleotide variant Benign/Likely benign rs28362318 GRCh38 Chromosome 10, 89008923: 89008923
2 FAS NM_000043.5(FAS): c.369G> A (p.Gln123=) single nucleotide variant Benign/Likely benign rs28362318 GRCh37 Chromosome 10, 90768680: 90768680
3 FASLG NM_000639.2(FASLG): c.472_555del84 (p.Met158_Glu185del) deletion Pathogenic rs80358236 GRCh37 Chromosome 1, 172634782: 172634865
4 FASLG NM_000639.2(FASLG): c.472_555del84 (p.Met158_Glu185del) deletion Pathogenic rs80358236 GRCh38 Chromosome 1, 172665642: 172665725
5 FAS NM_000043.5(FAS): c.232delG (p.Asp78Metfs) deletion Pathogenic rs606231361 GRCh38 Chromosome 10, 89007735: 89007735
6 FAS NM_000043.5(FAS): c.232delG (p.Asp78Metfs) deletion Pathogenic rs606231361 GRCh37 Chromosome 10, 90767492: 90767492
7 FAS NM_000043.5(FAS): c.334+2dup duplication Pathogenic rs606231362 GRCh38 Chromosome 10, 89007839: 89007839
8 FAS NM_000043.5(FAS): c.334+2dup duplication Pathogenic rs606231362 GRCh37 Chromosome 10, 90767596: 90767596
9 FAS NM_000043.5(FAS): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic rs121913076 GRCh37 Chromosome 10, 90773920: 90773920
10 FAS NM_000043.5(FAS): c.721A> C (p.Thr241Pro) single nucleotide variant Pathogenic rs121913076 GRCh38 Chromosome 10, 89014163: 89014163
11 FAS NM_000043.5(FAS): c.569-2A> C single nucleotide variant Pathogenic rs606231363 GRCh38 Chromosome 10, 89011997: 89011997
12 FAS NM_000043.5(FAS): c.569-2A> C single nucleotide variant Pathogenic rs606231363 GRCh37 Chromosome 10, 90771754: 90771754
13 FAS NM_000043.5(FAS): c.817C> T (p.Gln273Ter) single nucleotide variant Pathogenic rs121913077 GRCh37 Chromosome 10, 90774016: 90774016
14 FAS NM_000043.5(FAS): c.817C> T (p.Gln273Ter) single nucleotide variant Pathogenic rs121913077 GRCh38 Chromosome 10, 89014259: 89014259
15 FAS NM_000043.5(FAS): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic rs121913078 GRCh37 Chromosome 10, 90768672: 90768672
16 FAS NM_000043.5(FAS): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic rs121913078 GRCh38 Chromosome 10, 89008915: 89008915
17 FAS NM_000043.5(FAS): c.695A> G (p.Tyr232Cys) single nucleotide variant Pathogenic rs121913079 GRCh37 Chromosome 10, 90773894: 90773894
18 FAS NM_000043.5(FAS): c.695A> G (p.Tyr232Cys) single nucleotide variant Pathogenic rs121913079 GRCh38 Chromosome 10, 89014137: 89014137
19 FAS NM_000043.5(FAS): c.779A> T (p.Asp260Val) single nucleotide variant Pathogenic rs28929498 GRCh37 Chromosome 10, 90773978: 90773978
20 FAS NM_000043.5(FAS): c.779A> T (p.Asp260Val) single nucleotide variant Pathogenic rs28929498 GRCh38 Chromosome 10, 89014221: 89014221
21 FAS NM_000043.5(FAS): c.749G> C (p.Arg250Pro) single nucleotide variant Likely pathogenic rs121913080 GRCh37 Chromosome 10, 90773948: 90773948
22 FAS NM_000043.5(FAS): c.749G> C (p.Arg250Pro) single nucleotide variant Likely pathogenic rs121913080 GRCh38 Chromosome 10, 89014191: 89014191
23 FAS NM_000043.5(FAS): c.809C> T (p.Thr270Ile) single nucleotide variant Pathogenic rs121913081 GRCh37 Chromosome 10, 90774008: 90774008
24 FAS NM_000043.5(FAS): c.809C> T (p.Thr270Ile) single nucleotide variant Pathogenic rs121913081 GRCh38 Chromosome 10, 89014251: 89014251
25 FAS NM_000043.5(FAS): c.651+2T> A single nucleotide variant Pathogenic rs267607122 GRCh37 Chromosome 10, 90771840: 90771840
26 FAS NM_000043.5(FAS): c.651+2T> A single nucleotide variant Pathogenic rs267607122 GRCh38 Chromosome 10, 89012083: 89012083
27 FAS NM_000043.5(FAS): c.73G> A (p.Ala25Thr) single nucleotide variant Pathogenic rs606231364 GRCh38 Chromosome 10, 89003071: 89003071
28 FAS NM_000043.5(FAS): c.73G> A (p.Ala25Thr) single nucleotide variant Pathogenic rs606231364 GRCh37 Chromosome 10, 90762828: 90762828
29 FAS NM_000043.4(FAS): c.968_987dup (p.Glu330Lysfs) duplication Pathogenic rs606231365 GRCh38 Chromosome 10, 89014410: 89014429
30 FAS NM_000043.4(FAS): c.968_987dup (p.Glu330Lysfs) duplication Pathogenic rs606231365 GRCh37 Chromosome 10, 90774167: 90774186
31 FAS NM_000043.5(FAS): c.740G> C (p.Gly247Ala) single nucleotide variant Pathogenic rs121913085 GRCh37 Chromosome 10, 90773939: 90773939
32 FAS NM_000043.5(FAS): c.740G> C (p.Gly247Ala) single nucleotide variant Pathogenic rs121913085 GRCh38 Chromosome 10, 89014182: 89014182
33 FAS NM_000043.5(FAS): c.651+2T> C single nucleotide variant Pathogenic rs267607122 GRCh37 Chromosome 10, 90771840: 90771840
34 FAS NM_000043.5(FAS): c.651+2T> C single nucleotide variant Pathogenic rs267607122 GRCh38 Chromosome 10, 89012083: 89012083
35 FAS NM_000043.5(FAS): c.692_693insT (p.Lys231Asnfs) insertion Pathogenic rs606231366 GRCh38 Chromosome 10, 89014134: 89014135
36 FAS NM_000043.5(FAS): c.692_693insT (p.Lys231Asnfs) insertion Pathogenic rs606231366 GRCh37 Chromosome 10, 90773891: 90773892
37 FAS NM_000043.5(FAS): c.778G> T (p.Asp260Tyr) single nucleotide variant Pathogenic rs121913086 GRCh37 Chromosome 10, 90773977: 90773977
38 FAS NM_000043.5(FAS): c.778G> T (p.Asp260Tyr) single nucleotide variant Pathogenic rs121913086 GRCh38 Chromosome 10, 89014220: 89014220
39 FASLG NM_000639.2(FASLG): c.466A> G (p.Arg156Gly) single nucleotide variant Uncertain significance rs80358238 GRCh37 Chromosome 1, 172634776: 172634776
40 FASLG NM_000639.2(FASLG): c.466A> G (p.Arg156Gly) single nucleotide variant Uncertain significance rs80358238 GRCh38 Chromosome 1, 172665636: 172665636
41 CASP10 NM_032977.3(CASP10): c.1228G> A (p.Val410Ile) single nucleotide variant Benign/Likely benign rs13010627 GRCh37 Chromosome 2, 202074098: 202074098
42 CASP10 NM_032977.3(CASP10): c.1228G> A (p.Val410Ile) single nucleotide variant Benign/Likely benign rs13010627 GRCh38 Chromosome 2, 201209375: 201209375
43 CASP10 NM_032977.3(CASP10): c.1337A> G (p.Tyr446Cys) single nucleotide variant Benign rs17860405 GRCh37 Chromosome 2, 202074207: 202074207
44 CASP10 NM_032977.3(CASP10): c.1337A> G (p.Tyr446Cys) single nucleotide variant Benign rs17860405 GRCh38 Chromosome 2, 201209484: 201209484
45 FAS NM_000043.5(FAS): c.46G> A (p.Ala16Thr) single nucleotide variant Benign/Likely benign rs3218619 GRCh37 Chromosome 10, 90762801: 90762801
46 FAS NM_000043.5(FAS): c.46G> A (p.Ala16Thr) single nucleotide variant Benign/Likely benign rs3218619 GRCh38 Chromosome 10, 89003044: 89003044
47 FAS NM_000043.5(FAS): c.365C> T (p.Thr122Ile) single nucleotide variant Benign/Likely benign rs3218614 GRCh37 Chromosome 10, 90768676: 90768676
48 FAS NM_000043.5(FAS): c.365C> T (p.Thr122Ile) single nucleotide variant Benign/Likely benign rs3218614 GRCh38 Chromosome 10, 89008919: 89008919
49 FAS NM_000043.5(FAS): c.580G> A (p.Glu194Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs56006128 GRCh37 Chromosome 10, 90771767: 90771767
50 FAS NM_000043.5(FAS): c.580G> A (p.Glu194Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs56006128 GRCh38 Chromosome 10, 89012010: 89012010

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:

38
# Name Kegg Source Accession
1 Apoptosis hsa04210

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

(show top 50) (show all 86)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.24 BCL2L11 CASP10 CASP8 FADD FAS FASLG
2
Show member pathways
14.05 CASP10 CASP8 CTLA4 FADD FASLG HRAS
3
Show member pathways
13.92 ACTA2 BCL2L11 CASP10 CASP8 FADD FAS
4
Show member pathways
13.87 ACTA2 BCL2L11 CASP10 CASP8 FADD FAS
5
Show member pathways
13.75 CASP10 CASP8 FAS FASLG HRAS IL10
6
Show member pathways
13.47 ACTA2 FADD FAS FASLG HRAS IL10
7
Show member pathways
13.43 FASLG HRAS IL10 IL2 IL2RA NRAS
8
Show member pathways
13.26 CASP8 FADD FAS FASLG IL10 IL2
9
Show member pathways
13.21 ACTA2 CASP10 CASP8 FAS FASLG HRAS
10
Show member pathways
13.12 ACTA2 HRAS IL2 IL2RA NRAS PRKCD
11
Show member pathways
13.04 CASP10 CASP8 FADD FAS FASLG HRAS
12
Show member pathways
13.04 BCL2L11 CASP8 FADD FAS FASLG HRAS
13
Show member pathways
13.01 ACTA2 CTLA4 HRAS NRAS PRKCD PTPRC
14
Show member pathways
13 CASP10 CASP8 FADD FAS FASLG HRAS
15
Show member pathways
12.92 FAS FASLG HRAS NRAS PRKCD
16 12.85 CASP8 FAS FASLG HRAS NRAS PRKCD
17
Show member pathways
12.79 BCL2L11 CASP10 CASP8 FADD FAS FASLG
18
Show member pathways
12.78 BCL2L11 CASP10 CASP8 FADD FAS FASLG
19
Show member pathways
12.78 ACTA2 CASP10 CASP8 FADD FAS FASLG
20
Show member pathways
12.77 FAS FASLG HRAS NRAS PRKCD
21
Show member pathways
12.73 CASP8 FADD HRAS NRAS PRKCD
22
Show member pathways
12.72 HRAS IL10 IL2 IL2RA PTPRC RASGRP1
23
Show member pathways
12.71 BCL2L11 CASP8 FAS FASLG HRAS NRAS
24
Show member pathways
12.67 CASP8 FADD FAS FASLG IL2 IL2RA
25
Show member pathways
12.66 CASP10 CASP8 FADD FAS FASLG HRAS
26
Show member pathways
12.62 FAS FASLG HRAS IL2 NRAS PRF1
27
Show member pathways
12.59 CASP10 CASP8 FADD FAS FASLG PRF1
28 12.58 BCL2L11 CASP8 FADD FAS FASLG HRAS
29 12.57 CTLA4 FAS FASLG IL10 IL2 IL2RA
30
Show member pathways
12.5 CASP10 CASP8 HRAS IL2 IL2RA NRAS
31
Show member pathways
12.48 HRAS IL10 IL2 IL2RA NRAS PRKCD
32
Show member pathways
12.47 CASP8 HRAS NRAS PRKCD
33
Show member pathways
12.47 ACTA2 CTLA4 IL2 IL2RA PRKCD PTPRC
34
Show member pathways
12.44 ACTA2 CASP10 HRAS PRF1
35
Show member pathways
12.43 HRAS NRAS PRKCD PTPRC
36
Show member pathways
12.41 CASP10 CASP8 FADD FAS FASLG TNFAIP3
37 12.4 HRAS IL2 IL2RA NRAS
38
Show member pathways
12.38 HRAS NRAS PRKCD PTPRC
39 12.35 FAS FASLG HRAS NRAS
40 12.34 BCL2L11 CASP8 FADD FAS FASLG TNFAIP3
41
Show member pathways
12.31 CASP10 CASP8 FAS FASLG
42
Show member pathways
12.31 CASP8 FADD FAS FASLG TNFAIP3
43 12.29 CASP10 CASP8 FADD IL10
44
Show member pathways
12.29 BCL2L11 HRAS IL2RA NRAS RASGRP1
45
Show member pathways
12.29 CASP8 HRAS IL10 IL2 NRAS PRKCD
46
Show member pathways
12.28 BCL2L11 CASP10 CASP8 FADD FAS FASLG
47
Show member pathways
12.22 CASP8 FADD IL2 PRKCD TNFAIP3
48 12.19 BCL2L11 HRAS IL2RA NRAS
49
Show member pathways
12.19 BCL2L11 FASLG HRAS IL10 NRAS
50
Show member pathways
12.17 HRAS IL10 IL2 IL2RA NRAS PRKCD

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 CASP8 FADD FAS FASLG PTPRC
2 cell body GO:0044297 9.5 ACTA2 CASP8 FADD
3 death-inducing signaling complex GO:0031264 9.33 CASP8 FADD FAS
4 ripoptosome GO:0097342 9.13 CASP10 CASP8 FADD
5 CD95 death-inducing signaling complex GO:0031265 8.92 CASP10 CASP8 FADD FAS

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

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 regulation of apoptotic process GO:0042981 9.95 BCL2L11 CASP10 CASP8 FADD FAS
2 defense response to virus GO:0051607 9.94 FADD PRF1 PTPRC UNC13D
3 positive regulation of protein phosphorylation GO:0001934 9.94 FAS HRAS IL2 RASGRP1
4 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.93 CASP10 CASP8 FADD FASLG
5 cell surface receptor signaling pathway GO:0007166 9.93 CASP10 CASP8 FADD HRAS IL2RA PTPRC
6 MAPK cascade GO:0000165 9.91 HRAS IL2 IL2RA NRAS RASGRP1
7 cellular response to mechanical stimulus GO:0071260 9.85 CASP8 FADD FAS
8 Ras protein signal transduction GO:0007265 9.84 HRAS NRAS RASGRP1
9 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.83 HRAS NRAS PRKCD
10 positive regulation of T cell proliferation GO:0042102 9.83 IL2 IL2RA PTPRC
11 positive regulation of tumor necrosis factor production GO:0032760 9.8 FADD PTPRC RASGRP1
12 negative regulation of inflammatory response GO:0050728 9.8 IL10 IL2 IL2RA PRKCD TNFAIP3
13 positive regulation of interferon-gamma production GO:0032729 9.78 FADD HRAS IL2
14 negative regulation of T cell proliferation GO:0042130 9.77 CTLA4 IL10 IL2RA
15 B cell proliferation GO:0042100 9.76 IL10 PRKCD PTPRC
16 extrinsic apoptotic signaling pathway in absence of ligand GO:0097192 9.75 BCL2L11 FADD IL2
17 extrinsic apoptotic signaling pathway via death domain receptors GO:0008625 9.74 CASP8 FADD FASLG
18 extrinsic apoptotic signaling pathway GO:0097191 9.73 CASP8 FADD FAS FASLG
19 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.72 CASP10 CASP8 FADD FAS FASLG
20 T cell homeostasis GO:0043029 9.71 BCL2L11 FADD IL2RA
21 positive regulation of activated T cell proliferation GO:0042104 9.7 FADD IL2 IL2RA
22 activation of cysteine-type endopeptidase activity GO:0097202 9.69 CASP8 FADD
23 negative regulation of immune response GO:0050777 9.69 CTLA4 IL2RA
24 positive regulation of macrophage differentiation GO:0045651 9.69 CASP8 FADD
25 inflammatory response to antigenic stimulus GO:0002437 9.68 IL2RA RASGRP1
26 negative regulation of peptidyl-tyrosine phosphorylation GO:0050732 9.68 PRKCD PTPRC
27 response to molecule of bacterial origin GO:0002237 9.68 IL10 TNFAIP3
28 interleukin-2-mediated signaling pathway GO:0038110 9.68 IL2 IL2RA
29 toll-like receptor 3 signaling pathway GO:0034138 9.67 CASP8 FADD
30 positive regulation of isotype switching to IgG isotypes GO:0048304 9.67 IL2 PTPRC
31 positive regulation of T cell differentiation GO:0045582 9.67 IL2 IL2RA PTPRC
32 death-inducing signaling complex assembly GO:0071550 9.66 CASP8 FADD
33 regulation of necroptotic process GO:0060544 9.65 CASP8 FADD
34 regulation of regulatory T cell differentiation GO:0045589 9.65 CTLA4 IL2 IL2RA
35 apoptotic signaling pathway GO:0097190 9.65 CASP10 CASP8 FADD FAS FASLG
36 negative regulation of lymphocyte proliferation GO:0050672 9.63 IL2 IL2RA
37 TRAIL-activated apoptotic signaling pathway GO:0036462 9.62 CASP8 FADD
38 regulation of T cell homeostatic proliferation GO:0046013 9.59 IL2 IL2RA
39 necroptotic signaling pathway GO:0097527 9.54 FADD FAS FASLG
40 regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902041 9.46 CASP8 FADD FAS FASLG
41 apoptotic process GO:0006915 9.36 BCL2L11 CASP10 CASP8 FADD FAS FASLG
42 negative regulation of extrinsic apoptotic signaling pathway via death domain receptors GO:1902042 9.35 CASP8 FADD FAS FASLG TNFAIP3
43 immune response GO:0006955 10.03 CTLA4 FAS FASLG IL10 IL2 IL2RA
44 positive regulation of apoptotic process GO:0043065 10.01 BCL2L11 CTLA4 FADD FAS FASLG
45 cytokine-mediated signaling pathway GO:0019221 10 FASLG IL10 IL2 IL2RA

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 9.54 FAS PRKCD TNFAIP3
2 cysteine-type endopeptidase activity involved in apoptotic process GO:0097153 9.4 CASP10 CASP8
3 tumor necrosis factor receptor binding GO:0005164 9.33 CASP8 FADD FASLG
4 cysteine-type endopeptidase activity involved in apoptotic signaling pathway GO:0097199 9.32 CASP10 CASP8
5 death receptor binding GO:0005123 9.13 CASP8 FADD FASLG
6 death effector domain binding GO:0035877 8.8 CASP10 CASP8 FADD
7 protein binding GO:0005515 10.19 BCL2L11 CASP10 CASP8 CTLA4 FADD FAS

Sources for Autoimmune Lymphoproliferative Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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