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
Download this MalaCard

Summaries for Autoimmune Lymphoproliferative Syndrome, Type Ib

About this section
Sources:
47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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:47 601859,603909,614470

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type Ib

About this section
Sources:
20GeneTests, 22GTR, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
autoimmune lymphoproliferative syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Variable


Aliases & Descriptions:

autoimmune lymphoproliferative syndrome, type ib 20 22 47
autoimmune lymphoproliferative syndrome 49 62
canale-smith syndrome 49
fas deficiency 49
alps 49


External Ids:

ICD10 via Orphanet26 D72.8
UMLS via Orphanet63 C1328840
MESH via Orphanet36 D056735

Related Diseases for Autoimmune Lymphoproliferative Syndrome, Type Ib

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

601859

Clinical features from OMIM:

601859,603909,614470

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type Ib

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

Drug clinical trials:

Search ClinicalTrials for Autoimmune Lymphoproliferative Syndrome, Type Ib

Search NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome, Type Ib

Genetic Tests for Autoimmune Lymphoproliferative Syndrome, Type Ib

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Autoimmune Lymphoproliferative Syndrome, Type Ib:

id Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome, Type Ib20
2 Autoimmune Lymphoproliferative Syndrome, Type 1b22

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type Ib

About this section

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

About this section
Sources:
37MGI
See all sources

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

37
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

About this section

Variations for Autoimmune Lymphoproliferative Syndrome, Type Ib

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
See all sources

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

64 (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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
50PathCards, 30KEGG, 53QIAGEN, 57SinoBiological, 38NCBI BioSystems Database, 51PharmGKB, 61Tocris Bioscience, 60Thomson Reuters, 5Cell Signaling Technology, 54R&D Systems, 55Reactome
See all sources

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 pathway38
TCR Signaling Pathway38
9.3PRKCD, FAS
99.1FASLG, FAS
10
Show member pathways
Transcription NF kB signaling pathway60
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response60
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 cells60
9.1FASLG, FAS
159.1FASLG, FAS
169.1FASLG, FAS
17
Show member pathways
DNA damage response (only ATM dependent)38
Wnt Signaling Pathway and Pluripotency38
9.0PRKCD, FASLG
189.0FASLG, PRKCD
19
Show member pathways
Apoptosis Modulation and Signaling38
Apoptosis38
8.6CASP10, FASLG, FAS
20
Show member pathways
FAS pathway and Stress induction of HSP regulation38
Apoptosis and survival FAS signaling cascades60
Caspase cascade in apoptosis38
8.6CASP10, FASLG, FAS
21
Show member pathways
Apoptosis and survival Apoptotic TNF family pathways60
8.6CASP10, FASLG, FAS
22
Show member pathways
TRAIL signaling pathway38
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 pathway38
Regulation of toll-like receptor signaling pathway38
8.6CASP10, FASLG, FAS
27
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway38
Apoptosis Modulation by HSP7038
HIV-1 Nef- Negative effector of Fas and TNF-alpha38
8.6CASP10, FASLG, FAS
288.6CASP10, FAS, FASLG
29
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
8.5FASLG, PRKCD, FAS
30
Show member pathways
MAPK signaling pathway38
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 Degradation38
Immune response Antigen presentation by MHC class I60
8.0PRKCD, FAS, FASLG, CASP10

Compounds for genes affiliated with Autoimmune Lymphoproliferative Syndrome, Type Ib

About this section
Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 61Tocris Bioscience, 51PharmGKB, 24HMDB
See all sources

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

(show top 50)    (show all 54)
idCompoundScoreTop Affiliating Genes
1(glc)4459.6FASLG, FAS
2atpo29 4510.6FAS, FASLG
3teniposide45 1110.6FASLG, FAS
4concanamycin a45 6110.5FAS, FASLG
52-chlorodeoxyadenosine459.5FAS, FASLG
63-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide459.5FAS, FASLG
7dutp459.5FAS, FASLG
8depsipeptide459.5FAS, FASLG
9suberoylanilide hydroxamic acid459.5FAS, FASLG
10fludarabine45 51 1111.5FAS, FASLG
11calyculin a45 61 1111.5FASLG, FAS
12ivig459.5FASLG, FAS
13ifn-alpha459.5FASLG, FAS
14c2ceramide459.5FAS, FASLG
15daunorubicin45 51 1111.5FAS, FASLG
16ag 1478459.5FAS, FASLG
17tetracycline45 1110.5FAS, FASLG
18anisomycin45 1110.5FASLG, FAS
19adpribose459.4FAS, FASLG
20mitomycin c459.4FAS, FASLG
21sp 60012545 6110.4FASLG, FAS
22morphine45 51 29 1112.4FASLG, FAS
23thymidylate459.4FASLG, FAS
24sodium nitroprusside459.4FASLG, FAS
25cytarabine45 51 1111.4FASLG, FAS
26resveratrol45 61 24 1112.4FAS, FASLG
27adriamycin459.3FAS, FASLG
28camptothecin45 61 1111.3FASLG, FAS
29mg 13245 6110.3FASLG, FAS
30tgf beta1459.2FASLG, FAS
31agarose459.2FASLG, FAS
325-aza-2deoxycytidine459.1FASLG, FAS
335fluorouracil459.1FAS, FASLG
34paclitaxel45 51 1111.0FAS, FASLG, CASP10
35arsenite45 2410.0FAS, FASLG
36actinomycin d459.0FAS, CASP10, FASLG
37rottlerin459.0FAS, FASLG, PRKCD
38ionomycin459.0FAS, FASLG, PRKCD
39phosphatidylserine45 29 1110.9FAS, FASLG, PRKCD
40rapamycin458.9PRKCD, FAS, FASLG
41wortmannin458.9FASLG, PRKCD, FAS
42doxorubicin45 51 1110.9PRKCD, FASLG, FAS
43cycloheximide458.9FASLG, PRKCD, FAS
44h2o2458.9FAS, FASLG, PRKCD
45phosphatidylinositol458.9PRKCD, FASLG, FAS
46nitric oxide45 24 1110.8FASLG, FAS, PRKCD
47ceramide458.8FAS, FASLG
48cisplatin45 51 61 1111.4CASP10, PRKCD, FASLG, FAS
49cysteine458.4PRKCD, FASLG, FAS, CASP10
50serine458.4FASLG, FAS, CASP10, PRKCD

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

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Autoimmune Lymphoproliferative Syndrome, Type Ib

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet