ALPS
MCID: ATM029
MIFTS: 45

Autoimmune Lymphoproliferative Syndrome, Type Ib (ALPS) malady

Genetic diseases, Blood diseases, Cancer diseases, Rare diseases, Immune diseases, Neuronal diseases categories

Summaries for Autoimmune Lymphoproliferative Syndrome, Type Ib

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48OMIM, 34MalaCards
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MalaCards: Autoimmune Lymphoproliferative Syndrome, Type Ib, also known as autoimmune lymphoproliferative syndrome, is related to autoimmune lymphoproliferative syndrome and hepatitis. An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type Ib is CASP10 (caspase 10, apoptosis-related cysteine peptidase), and among its related pathways are TNF signaling pathway and p53 Signaling. The compounds (glc)4 and atpo have been mentioned in the context of this disorder. Related mouse phenotypes are liver/biliary system and skeleton.

Description from OMIM:48 601859,603909,614470

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type Ib

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21GeneTests, 23GTR, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
autoimmune lymphoproliferative syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable


Aliases & Descriptions:

autoimmune lymphoproliferative syndrome, type ib 21 23 48
autoimmune lymphoproliferative syndrome 50 63
canale-smith syndrome 50
fas deficiency 50
alps 50


External Ids:

ICD10 via Orphanet27 D72.8
UMLS via Orphanet64 C1328840
MESH via Orphanet37 D056735

Related Diseases for Autoimmune Lymphoproliferative Syndrome, Type Ib

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18GeneCards, 19GeneDecks
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Diseases in the Autoimmune Lymphoproliferative Syndrome family:

Fas-Related Autoimmune Lymphoproliferative Syndrome Faslg-Related Autoimmune Lymphoproliferative Syndrome
Casp10-Related Autoimmune Lymphoproliferative Syndrome Autoimmune Lymphoproliferative Syndrome, Type Ia
Autoimmune Lymphoproliferative Syndrome, Type 0 autoimmune lymphoproliferative syndrome, type ib
Autoimmune Lymphoproliferative Syndrome, Type Ii Autoimmune Lymphoproliferative Syndrome Type Iv
Lymphoproliferative Syndrome 1 Lymphoproliferative Syndrome 2

Diseases related to Autoimmune Lymphoproliferative Syndrome, Type Ib via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 81)
idRelated DiseaseScoreTop Affiliating Genes
1autoimmune lymphoproliferative syndrome31.8CASP10, FASLG, FAS
2hepatitis30.2FASLG, FAS
3non-hodgkin lymphoma30.1CASP10, FAS
4autoimmune lymphoproliferative syndrome, type ii10.6
5dianzani autoimmune lymphoproliferative syndrome10.5
6autoimmune lymphoproliferative syndrome, type ia10.5
7common variable immunodeficiency10.4
8caspase-8 deficiency10.4
9autoimmune lymphoproliferative syndrome, type 010.4
10autoimmune lymphoproliferative syndrome type iv10.4
11evans' syndrome10.3
12eosinophilia10.3
13purpura10.3
14splenomegaly10.3
15fas-related autoimmune lymphoproliferative syndrome10.3
16faslg-related autoimmune lymphoproliferative syndrome10.3
17casp10-related autoimmune lymphoproliferative syndrome10.3
18ras-associated autoimmune leukoproliferative disease10.3
19neuromyelitis optica10.1
20autoimmune thrombocytopenic purpura10.1
21polyarteritis nodosa10.1
22autoimmune hepatitis10.1
23hemophagocytic lymphohistiocytosis10.1
24arthritis10.1
25astrocytoma10.1
26glomerulonephritis10.1
27histiocytosis10.1
28hodgkin's lymphoma10.1
29malaria10.1
30pancreatitis10.1
31sarcoidosis10.1
32sarcoma10.1
33thrombocytopenia10.1
34uveitis10.1
35anaplastic astrocytoma10.1
36autoimmune pancreatitis10.1
37chronic active epstein-barr virus infection10.1
38linear iga disease10.1
39rosai-dorfman disease10.1
40cytomegalovirus infection10.1
41immunodeficiency due to casp8 deficiency10.1
42immunodeficiency, common variable, 910.1
43nephritis10.1
44histiocytic sarcoma10.1
45hemolytic anemia10.1
46toxic epidermal necrolysis10.0FASLG, FAS
47vogt-koyanagi-harada disease10.0FASLG, FAS
48silicosis10.0FAS, FASLG
49lymphomatoid papulosis10.0FASLG, FAS
50stevens-johnson syndrome10.0FASLG, FAS

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



Diseases related to autoimmune lymphoproliferative syndrome, type ib

Symptoms for Autoimmune Lymphoproliferative Syndrome, Type Ib

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48OMIM
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Symptoms by clinical synopsis from OMIM:

601859

Clinical features from OMIM:

601859,603909,614470

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type Ib

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Autoimmune Lymphoproliferative Syndrome, Type Ib

Drug clinical trials:

Search ClinicalTrials for Autoimmune Lymphoproliferative Syndrome, Type Ib

Search NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome, Type Ib

Search CenterWatch for Autoimmune Lymphoproliferative Syndrome, Type Ib

Genetic Tests for Autoimmune Lymphoproliferative Syndrome, Type Ib

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21GeneTests, 23GTR
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Genetic tests related to Autoimmune Lymphoproliferative Syndrome, Type Ib:

id Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome, Type Ib21
2 Autoimmune Lymphoproliferative Syndrome, Type 1b23

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type Ib

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Animal Models for Autoimmune Lymphoproliferative Syndrome, Type Ib or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type Ib:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5PRKCD, FASLG, FAS
2MP:00053908.5PRKCD, FASLG, FAS
3MP:00053678.4PRKCD, FASLG, FAS
4MP:00053798.2FAS, FASLG, PRKCD

Publications for Autoimmune Lymphoproliferative Syndrome, Type Ib

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Variations for Autoimmune Lymphoproliferative Syndrome, Type Ib

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Autoimmune Lymphoproliferative Syndrome, Type Ib:

65 (show all 22)
id Symbol AA change Variation ID SNP ID
1FASp.Thr28AlaVAR_013417
2FASp.Cys82ArgVAR_013418
3FASp.Arg121TrpVAR_013419
4FASp.Tyr232CysVAR_013423
5FASp.Thr241LysVAR_013424
6FASp.Thr241ProVAR_013425
7FASp.Arg250ProVAR_013426
8FASp.Arg250GlnVAR_013427
9FASp.Ala257AspVAR_013428
10FASp.Asp260GlyVAR_013429
11FASp.Asp260TyrVAR_013430
12FASp.Asp260ValVAR_013431rs28929498
13FASp.Thr270IleVAR_013433
14FASp.Glu272GlyVAR_013434
15FASp.Glu272LysVAR_013435
16FASp.Ile310SerVAR_013438
17FASp.Ile262SerVAR_058910
18FASp.Val249LeuVAR_065128
19FASp.Gly253AspVAR_065129
20FASp.Gly253SerVAR_065130
21FASp.Ile259ArgVAR_065131
22FASp.Thr270LysVAR_065132

Clinvar genetic disease variations for Autoimmune Lymphoproliferative Syndrome, Type Ib:

1
id Gene Name Type Significance SNP ID Assembly Location
1FASLGNM_000639.1(FASLG): c.472_555del84 (p.Met158_Glu185del)deletionPathogenicrs80358236GRCh37Chr 1, 172634782: 172634865
2FASLGNM_000639.1(FASLG): c.466A> G (p.Arg156Gly)single nucleotide variantPathogenicrs80358238GRCh37Chr 1, 172634776: 172634776
3FASLGNM_000639.1(FASLG): c.740C> A (p.Ala247Glu)single nucleotide variantPathogenicrs80358237GRCh37Chr 1, 172635050: 172635050

Expression for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Ib

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Ib

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

Pathways for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Ib

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Sources:
51PathCards, 31KEGG, 54QIAGEN, 58SinoBiological, 39NCBI BioSystems Database, 52PharmGKB, 62Tocris Bioscience, 61Thomson Reuters, 5Cell Signaling Technology, 55R&D Systems, 56Reactome
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Pathways related to Autoimmune Lymphoproliferative Syndrome, Type Ib according to GeneCards/GeneDecks:

(show all 33)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4FAS, CASP10
2
Show member pathways
9.4CASP10, FAS
39.4CASP10, FAS
4
Show member pathways
9.3PRKCD, CASP10
5
Show member pathways
9.3PRKCD, CASP10
69.3PRKCD, CASP10
7
Show member pathways
9.3PRKCD, CASP10
8
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
9.3PRKCD, FAS
99.1FASLG, FAS
10
Show member pathways
Transcription NF kB signaling pathway61
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response61
9.1FAS, FASLG
11
Show member pathways
9.1FASLG, FAS
129.1FASLG, FAS
13
Show member pathways
9.1FAS, FASLG
14
Show member pathways
Immune response CD16 signaling in NK cells61
9.1FASLG, FAS
159.1FASLG, FAS
169.1FASLG, FAS
17
Show member pathways
DNA damage response (only ATM dependent)39
Wnt Signaling Pathway and Pluripotency39
9.0PRKCD, FASLG
189.0FASLG, PRKCD
19
Show member pathways
Apoptosis Modulation and Signaling39
Apoptosis39
8.6CASP10, FASLG, FAS
20
Show member pathways
FAS pathway and Stress induction of HSP regulation39
Apoptosis and survival FAS signaling cascades61
Caspase cascade in apoptosis39
8.6CASP10, FASLG, FAS
21
Show member pathways
Apoptosis and survival Apoptotic TNF family pathways61
8.6CASP10, FASLG, FAS
22
Show member pathways
TRAIL signaling pathway39
8.6CASP10, FASLG, FAS
23
Show member pathways
8.6FAS, CASP10, FASLG
24
Show member pathways
8.6CASP10, FAS, FASLG
258.6CASP10, FASLG, FAS
26
Show member pathways
Toll-like receptor signaling pathway39
Regulation of toll-like receptor signaling pathway39
8.6CASP10, FASLG, FAS
27
Show member pathways
Apoptosis and survival TNFR1 signaling pathway61
TWEAK Signaling Pathway39
Apoptosis Modulation by HSP7039
HIV-1 Nef- Negative effector of Fas and TNF-alpha39
8.6CASP10, FASLG, FAS
288.6CASP10, FAS, FASLG
29
Show member pathways
Development EGFR signaling via PIP361
Development PDGF signaling via MAPK cascades61
Apoptosis and survival Anti apoptotic action of membrane bound ESR161
Signaling of Hepatocyte Growth Factor Receptor39
Development EGFR signaling via small GTPases61
Development Neurotrophin family signaling61
Apoptosis and survival NGF signaling pathway61
Apoptosis and survival Role of CDK5 in neuronal death and survival61
8.5FASLG, PRKCD, FAS
30
Show member pathways
MAPK signaling pathway39
8.5PRKCD, FAS, FASLG
31
Show member pathways
8.0FAS, FASLG, PRKCD, CASP10
32
Show member pathways
8.0FAS, FASLG, PRKCD, CASP10
33
Show member pathways
Proteasome Degradation39
Immune response Antigen presentation by MHC class I61
8.0PRKCD, FAS, FASLG, CASP10

Compounds for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Ib

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Sources:
46Novoseek, 30IUPHAR, 12DrugBank, 62Tocris Bioscience, 52PharmGKB, 25HMDB
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Compounds related to Autoimmune Lymphoproliferative Syndrome, Type Ib according to GeneCards/GeneDecks:

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1(glc)4469.6FASLG, FAS
2atpo30 4610.6FAS, FASLG
3teniposide46 1210.6FASLG, FAS
4concanamycin a46 6210.5FAS, FASLG
52-chlorodeoxyadenosine469.5FAS, FASLG
63-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide469.5FAS, FASLG
7dutp469.5FAS, FASLG
8depsipeptide469.5FAS, FASLG
9suberoylanilide hydroxamic acid469.5FAS, FASLG
10fludarabine46 52 1211.5FAS, FASLG
11calyculin a46 62 1211.5FASLG, FAS
12ivig469.5FASLG, FAS
13ifn-alpha469.5FASLG, FAS
14c2ceramide469.5FAS, FASLG
15daunorubicin46 52 1211.5FAS, FASLG
16ag 1478469.5FAS, FASLG
17tetracycline46 1210.5FAS, FASLG
18anisomycin46 1210.5FASLG, FAS
19adpribose469.4FAS, FASLG
20mitomycin c469.4FAS, FASLG
21sp 60012546 6210.4FASLG, FAS
22morphine46 52 30 1212.4FASLG, FAS
23thymidylate469.4FASLG, FAS
24sodium nitroprusside469.4FASLG, FAS
25cytarabine46 52 1211.4FASLG, FAS
26resveratrol46 62 25 1212.4FAS, FASLG
27adriamycin469.3FAS, FASLG
28camptothecin46 62 1211.3FASLG, FAS
29mg 13246 6210.3FASLG, FAS
30tgf beta1469.2FASLG, FAS
31agarose469.2FASLG, FAS
325-aza-2deoxycytidine469.1FASLG, FAS
335fluorouracil469.1FAS, FASLG
34paclitaxel46 52 1211.0FAS, FASLG, CASP10
35arsenite46 2510.0FAS, FASLG
36actinomycin d469.0FAS, CASP10, FASLG
37rottlerin469.0FAS, FASLG, PRKCD
38ionomycin469.0FAS, FASLG, PRKCD
39phosphatidylserine46 30 1210.9FAS, FASLG, PRKCD
40rapamycin468.9PRKCD, FAS, FASLG
41wortmannin468.9FASLG, PRKCD, FAS
42doxorubicin46 52 1210.9PRKCD, FASLG, FAS
43cycloheximide468.9FASLG, PRKCD, FAS
44h2o2468.9FAS, FASLG, PRKCD
45phosphatidylinositol468.9PRKCD, FASLG, FAS
46nitric oxide46 25 1210.8FASLG, FAS, PRKCD
47ceramide468.8FAS, FASLG
48cisplatin46 52 62 1211.4CASP10, PRKCD, FASLG, FAS
49cysteine468.4PRKCD, FASLG, FAS, CASP10
50serine468.4FASLG, FAS, CASP10, PRKCD

GO Terms for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Ib

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17Gene Ontology
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Cellular components related to Autoimmune Lymphoproliferative Syndrome, Type Ib according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1CD95 death-inducing signaling complexGO:0312659.3CASP10, FAS
2external side of plasma membraneGO:0098978.8FASLG, FAS
3extracellular vesicular exosomeGO:0700628.5PRKCD, FASLG, FAS

Biological processes related to Autoimmune Lymphoproliferative Syndrome, Type Ib according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1inflammatory cell apoptotic processGO:0069259.4FASLG, FAS
2necroptotic signaling pathwayGO:0975279.3FASLG, FAS
3regulation of extrinsic apoptotic signaling pathway in absence of ligandGO:20012399.3FASLG, FAS
4extrinsic apoptotic signaling pathwayGO:0971919.2FAS, FASLG
5extrinsic apoptotic signaling pathway via death domain receptorsGO:0086259.2FAS, FASLG
6positive regulation of I-kappaB kinase/NF-kappaB signalingGO:0431239.1CASP10, FASLG
7regulation of apoptotic processGO:0429819.1CASP10, FAS
8activation of cysteine-type endopeptidase activity involved in apoptotic processGO:0069199.1FASLG, FAS
9apoptotic signaling pathwayGO:0971908.8FAS, FASLG, CASP10
10signal transductionGO:0071658.4FAS, FASLG, PRKCD
11apoptotic processGO:0069158.2CASP10, PRKCD, FASLG, FAS

Products for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Ib

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  • Antibodies
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Sources for Autoimmune Lymphoproliferative Syndrome, Type Ib

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet