ALPS2A
MCID: ATM097
MIFTS: 43

Autoimmune Lymphoproliferative Syndrome, Type Iia (ALPS2A)

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

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type Iia

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome, Type Iia:

Name: Autoimmune Lymphoproliferative Syndrome, Type Iia 56 71
Autoimmune Lymphoproliferative Syndrome, Type Ii 56 73 13 54
Alps2a 56 12 73
Autoimmune Lymphoproliferative Syndrome Type Iia 12 73
Autoimmune Lymphoproliferative Syndrome, Type 2a 29 6
Autoimmune Lymphoproliferative Syndrome Type 2a 12 15
Alps2 56 73
Autoimmune Lymphoproliferative Syndrome, Type Ii; Alps2 56
Autoimmune Lymphoproliferative Syndrome, Type 2 39
Autoimmune Lymphoproliferative Syndrome Type 2 6
Autoimmune Lymphoproliferative Syndrome 2a 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or childhood


HPO:

31
autoimmune lymphoproliferative syndrome, type iia:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Autoimmune Lymphoproliferative Syndrome, Type Iia

UniProtKB/Swiss-Prot : 73 Autoimmune lymphoproliferative syndrome 2A: 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.

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, Type Iia, also known as autoimmune lymphoproliferative syndrome, type ii, is related to exanthem and autoimmune lymphoproliferative syndrome. An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type Iia is CASP10 (Caspase 10), and among its related pathways/superpathways are Cell adhesion molecules (CAMs) and Hematopoietic Stem Cells and Lineage-specific Markers. Affiliated tissues include t cells, smooth muscle and b cells, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 An autoimmune lymphoproliferative syndrome that has material basis in mutation in the CASP10 gene.

More information from OMIM: 603909

Related Diseases for Autoimmune Lymphoproliferative Syndrome, Type Iia

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, Type Iia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 229)
# Related Disease Score Top Affiliating Genes
1 exanthem 30.0 CD8A CD4
2 autoimmune lymphoproliferative syndrome 29.3 CD8A CD4 CASP10
3 juvenile arthritis 10.1
4 lymphoproliferative syndrome 10.1
5 pericarditis 10.1
6 juvenile rheumatoid arthritis 10.1
7 splenomegaly 10.1
8 systemic onset juvenile idiopathic arthritis 10.1
9 periodic fever, familial, autosomal dominant 10.0
10 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
11 lymphoma 10.0
12 cork-handlers' disease 9.9 CD8A CD4
13 ventilation pneumonitis 9.9 CD8A CD4
14 diffuse infiltrative lymphocytosis syndrome 9.9 CD8A CD4
15 diabetes mellitus, insulin-dependent, 23 9.9 CD8A CD4
16 early yaws 9.9 CD8A CD4
17 bird fancier's lung 9.9 CD8A CD4
18 parapsoriasis 9.9 CD8A CD4
19 norwegian scabies 9.9 CD8A CD4
20 skin sarcoidosis 9.9 CD8A CD4
21 variola major 9.9 CD8A CD4
22 follicular mucinosis 9.9 CD8A CD4
23 viral exanthem 9.9 CD8A CD4
24 tertiary syphilis 9.9 CD8A CD4
25 syphilis 9.9 CD8A CD4
26 spongiotic dermatitis 9.9 CD8A CD4
27 acute retinal necrosis syndrome 9.9 CD8A CD4
28 invasive malignant thymoma 9.9 CD8A CD4
29 metal allergy 9.9 CD8A CD4
30 cerebritis 9.9 CD8A CD4
31 granulomatous hepatitis 9.9 CD8A CD4
32 acute interstitial pneumonia 9.9 CD8A CD4
33 west nile encephalitis 9.9 CD8A CD4
34 oral hairy leukoplakia 9.9 CD8A CD4
35 superficial basal cell carcinoma 9.9 CD8A CD4
36 secondary syphilis 9.9 CD8A CD4
37 glanders 9.9 CD8A CD4
38 parotid disease 9.9 CD8A CD4
39 nickel allergic contact dermatitis 9.9 CD8A CD4
40 west nile fever 9.9 CD8A CD4
41 neurosarcoidosis 9.9 CD8A CD4
42 esophageal candidiasis 9.9 CD8A CD4
43 myeloid and lymphoid neoplasms associated with fgfr1 abnormalities 9.9 CD8A CD4
44 cardiomyopathy, familial hypertrophic, 9 9.9 CD8A CD4
45 oral tuberculosis 9.9 CD8A CD4
46 pneumonic tularemia 9.9 CD8A CD4
47 tularemia 9.9 CD8A CD4
48 farmer's lung 9.9 CD8A CD4
49 pneumonic plague 9.9 CD8A CD4
50 plague 9.9 CD8A CD4

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



Diseases related to Autoimmune Lymphoproliferative Syndrome, Type Iia

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome, Type Iia

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 urticaria 31 HP:0001025
4 nephrotic syndrome 31 HP:0000100
5 vasculitis 31 HP:0002633
6 eosinophilia 31 HP:0001880
7 autoimmune hemolytic anemia 31 HP:0001890
8 follicular hyperplasia 31 HP:0002729
9 increased circulating iga level 31 HP:0003261
10 antiphospholipid antibody positivity 31 HP:0003613
11 autoimmune thrombocytopenia 31 HP:0001973
12 increased circulating igm level 31 HP:0003496
13 rheumatoid factor positive 31 HP:0002923
14 antinuclear antibody positivity 31 HP:0003493
15 iron deficiency anemia 31 HP:0001891
16 coombs-positive hemolytic anemia 31 HP:0004844
17 neutropenia in presence of anti-neutropil antibodies 31 HP:0001904
18 increased circulating igg level 31 HP:0003237
19 nephritis 31 HP:0000123
20 chronic noninfectious lymphadenopathy 31 HP:0002730
21 malar rash 31 HP:0025300
22 smooth muscle antibody positivity 31 HP:0003262
23 antineutrophil antibody positivity 31 HP:0003453
24 elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells 31 HP:0002851
25 increased b cell count 31 HP:0005404
26 platelet antibody positive 31 HP:0003454
27 reduced delayed hypersensitivity 31 HP:0002972
28 decreased lymphocyte apoptosis 31 HP:0002731
29 increased proportion of hla dr+ t cells 31 HP:0002853

Symptoms via clinical synopsis from OMIM:

56
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
urticaria
malar rash
vasculitis rash

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
Abdomen Liver:
hepatomegaly

Genitourinary Kidneys:
nephrotic syndrome
nephritis
membranous glomerulonephropathy

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

Clinical features from OMIM:

603909

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type Iia

Search Clinical Trials , NIH Clinical Center for Autoimmune Lymphoproliferative Syndrome, Type Iia

Genetic Tests for Autoimmune Lymphoproliferative Syndrome, Type Iia

Genetic tests related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

# Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome, Type 2a 29 CASP10

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type Iia

MalaCards organs/tissues related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

40
T Cells, Smooth Muscle, B Cells, Lymph Node, Neutrophil

Publications for Autoimmune Lymphoproliferative Syndrome, Type Iia

Articles related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

# Title Authors PMID Year
1
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. 56 61 54 6
10412980 1999
2
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. 6 56
16446975 2006
3
Analysis of protein-coding genetic variation in 60,706 humans. 6
27535533 2016
4
Autoimmune Lymphoproliferative Syndrome 6
20301287 2006
5
Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. 56
9028957 1997
6
Mutations in apoptosis genes: a pathogenetic factor for human disease. 61 54
11397650 2001
7
Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. 61
21382177 2011
8
Revision of the diagnosis of T-zone lymphoma in the father of a patient with autoimmune lymphoproliferative syndrome type II. 61
10520011 1999
9
Reversible monoclonal lymphadenopathy in autoimmune lymphoproliferative syndrome with functional FAS (CD95/APO-1) deficiency. 61
10403307 1999

Variations for Autoimmune Lymphoproliferative Syndrome, Type Iia

ClinVar genetic disease variations for Autoimmune Lymphoproliferative Syndrome, Type Iia:

6 (show top 50) (show all 164) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CASP10 NM_032977.3(CASP10):c.853C>T (p.Leu285Phe)SNV Pathogenic 7764 rs17860403 2:202072837-202072837 2:201208114-201208114
2 CASP10 NM_032977.3(CASP10):c.1216A>C (p.Ile406Leu)SNV Conflicting interpretations of pathogenicity 7769 rs80358239 2:202074086-202074086 2:201209363-201209363
3 CASP10 NM_032977.3(CASP10):c.1466G>A (p.Arg489Gln)SNV Conflicting interpretations of pathogenicity 333440 rs535121774 2:202082361-202082361 2:201217638-201217638
4 CASP10 NM_032977.3(CASP10):c.1502C>T (p.Pro501Leu)SNV Conflicting interpretations of pathogenicity 333441 rs148939095 2:202082397-202082397 2:201217674-201217674
5 CASP10 NM_032977.3(CASP10):c.1321G>A (p.Ala441Thr)SNV Conflicting interpretations of pathogenicity 643723 2:202074191-202074191 2:201209468-201209468
6 CASP10 NM_032977.3(CASP10):c.1202_1208del (p.Cys401fs)deletion Conflicting interpretations of pathogenicity 535760 rs747900630 2:202074072-202074078 2:201209349-201209355
7 CASP10 NM_032977.4(CASP10):c.81T>C (p.Ile27=)SNV Conflicting interpretations of pathogenicity 714082 2:202050581-202050581 2:201185858-201185858
8 CASP10 NM_032977.4(CASP10):c.-8+5G>ASNV Conflicting interpretations of pathogenicity 801851 2:202048036-202048036 2:201183313-201183313
9 CASP10 NM_032977.3(CASP10):c.20A>G (p.His7Arg)SNV Conflicting interpretations of pathogenicity 333415 rs200935960 2:202050520-202050520 2:201185797-201185797
10 CASP10 NM_032977.3(CASP10):c.361G>A (p.Glu121Lys)SNV Uncertain significance 333421 rs565907504 2:202052442-202052442 2:201187719-201187719
11 CASP10 NM_032977.3(CASP10):c.*1257G>ASNV Uncertain significance 333460 rs886055414 2:202083721-202083721 2:201218998-201218998
12 CASP10 NM_032977.3(CASP10):c.*1366T>CSNV Uncertain significance 333461 rs886055415 2:202083830-202083830 2:201219107-201219107
13 CASP10 NM_032977.3(CASP10):c.*2425C>GSNV Uncertain significance 333475 rs886055421 2:202084889-202084889 2:201220166-201220166
14 CASP10 NM_032977.3(CASP10):c.*480A>GSNV Uncertain significance 333449 rs539196058 2:202082944-202082944 2:201218221-201218221
15 CASP10 NM_032977.3(CASP10):c.*657G>CSNV Uncertain significance 333450 rs886055408 2:202083121-202083121 2:201218398-201218398
16 CASP10 NM_032977.3(CASP10):c.*3420C>TSNV Uncertain significance 333492 rs536711035 2:202085884-202085884 2:201221161-201221161
17 CASP10 NM_032977.4(CASP10):c.325C>T (p.Arg109Ter)SNV Uncertain significance 801852 2:202050825-202050825 2:201186102-201186102
18 CASP10 NC_000002.12:g.(?_201185758)_(201229103_?)dupduplication Uncertain significance 833235 2:202050481-202093826
19 CASP10 NC_000002.12:g.(?_201192964)_(201193139_?)dupduplication Uncertain significance 833232 2:202057687-202057862
20 CASP10 NM_032977.4(CASP10):c.136T>G (p.Leu46Val)SNV Uncertain significance 854034 2:202050636-202050636 2:201185913-201185913
21 CASP10 NM_032977.4(CASP10):c.142C>T (p.Pro48Ser)SNV Uncertain significance 839357 2:202050642-202050642 2:201185919-201185919
22 CASP10 NM_032977.4(CASP10):c.208C>G (p.Leu70Val)SNV Uncertain significance 838561 2:202050708-202050708 2:201185985-201185985
23 CASP10 NM_032977.4(CASP10):c.553A>G (p.Ile185Val)SNV Uncertain significance 857497 2:202057818-202057818 2:201193095-201193095
24 CASP10 NM_032977.4(CASP10):c.554T>G (p.Ile185Arg)SNV Uncertain significance 840409 2:202057819-202057819 2:201193096-201193096
25 CASP10 NM_032977.4(CASP10):c.733A>C (p.Thr245Pro)SNV Uncertain significance 844627 2:202070616-202070616 2:201205893-201205893
26 CASP10 NM_032977.4(CASP10):c.786C>G (p.Asn262Lys)SNV Uncertain significance 835257 2:202070669-202070669 2:201205946-201205946
27 CASP10 NM_032977.4(CASP10):c.797C>T (p.Ser266Phe)SNV Uncertain significance 849666 2:202070680-202070680 2:201205957-201205957
28 CASP10 NM_032977.4(CASP10):c.802A>C (p.Thr268Pro)SNV Uncertain significance 847605 2:202070685-202070685 2:201205962-201205962
29 CASP10 NM_032977.4(CASP10):c.1288A>T (p.Ile430Phe)SNV Uncertain significance 860550 2:202074158-202074158 2:201209435-201209435
30 CASP10 NM_032977.4(CASP10):c.1415+1G>ASNV Uncertain significance 851636 2:202074286-202074286 2:201209563-201209563
31 CASP10 NM_032976.3(CASP10):c.-314G>ASNV Uncertain significance 896762 2:202047725-202047725 2:201183002-201183002
32 CASP10 NM_032977.4(CASP10):c.502A>G (p.Thr168Ala)SNV Uncertain significance 895424 2:202057767-202057767 2:201193044-201193044
33 CASP10 NM_032977.4(CASP10):c.1025A>G (p.Asn342Ser)SNV Uncertain significance 898479 2:202073895-202073895 2:201209172-201209172
34 CASP10 NM_032977.4(CASP10):c.1060T>C (p.Cys354Arg)SNV Uncertain significance 898480 2:202073930-202073930 2:201209207-201209207
35 CASP10 NM_032977.4(CASP10):c.*116C>ASNV Uncertain significance 896888 2:202082580-202082580 2:201217857-201217857
36 CASP10 NM_032977.4(CASP10):c.*911T>GSNV Uncertain significance 898550 2:202083375-202083375 2:201218652-201218652
37 CASP10 NM_032977.4(CASP10):c.*1022C>TSNV Uncertain significance 898551 2:202083486-202083486 2:201218763-201218763
38 CASP10 NM_032977.4(CASP10):c.*1258G>TSNV Uncertain significance 895563 2:202083722-202083722 2:201218999-201218999
39 CASP10 NM_032977.4(CASP10):c.*1327G>ASNV Uncertain significance 895564 2:202083791-202083791 2:201219068-201219068
40 CASP10 NM_032977.4(CASP10):c.*1395G>ASNV Uncertain significance 895565 2:202083859-202083859 2:201219136-201219136
41 CASP10 NM_032977.4(CASP10):c.*1542A>TSNV Uncertain significance 896965 2:202084006-202084006 2:201219283-201219283
42 CASP10 NM_032977.4(CASP10):c.*1624T>CSNV Uncertain significance 896966 2:202084088-202084088 2:201219365-201219365
43 CASP10 NM_032977.4(CASP10):c.*1654C>TSNV Uncertain significance 896967 2:202084118-202084118 2:201219395-201219395
44 CASP10 NM_032977.3(CASP10):c.1348C>T (p.Arg450Trp)SNV Uncertain significance 655373 2:202074218-202074218 2:201209495-201209495
45 CASP10 NC_000002.12:g.(?_201203710)_(201209582_?)deldeletion Uncertain significance 655232 2:202068433-202074305 2:201203710-201209582
46 CASP10 NM_032977.3(CASP10):c.478G>A (p.Gly160Ser)SNV Uncertain significance 467715 rs781000749 2:202057743-202057743 2:201193020-201193020
47 CASP10 NM_032977.3(CASP10):c.491A>C (p.Glu164Ala)SNV Uncertain significance 467716 rs1165543405 2:202057756-202057756 2:201193033-201193033
48 CASP10 NM_032977.3(CASP10):c.683C>T (p.Pro228Leu)SNV Uncertain significance 535761 rs143882052 2:202060670-202060670 2:201195947-201195947
49 CASP10 NM_032977.3(CASP10):c.920C>A (p.Ala307Asp)SNV Uncertain significance 535757 rs1291372845 2:202072904-202072904 2:201208181-201208181
50 CASP10 NM_032977.3(CASP10):c.247C>G (p.Leu83Val)SNV Uncertain significance 535759 rs759913674 2:202050747-202050747 2:201186024-201186024

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

73
# Symbol AA change Variation ID SNP ID
1 CASP10 p.Leu285Phe VAR_014071 rs17860403

Expression for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

Pathways for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

# Super pathways Score Top Affiliating Genes
1 11.63 CD8A CD4
2 11.5 CD8A CD4
3 11.46 CD4 CASP10
4
Show member pathways
11.46 CD8A CD4
5
Show member pathways
11.4 CD8A CD4
6 11.32 CD8A CD4
7 11.16 CD8A CD4
8 11.02 CD8A CD4
9 10.81 CD8A CD4
10 10.2 CD8A CD4

GO Terms for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

# Name GO ID Score Top Affiliating Genes
1 T cell receptor complex GO:0042101 8.62 CD8A CD4

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.26 CD4 CASP10
2 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.16 CD8A CD4
3 T cell activation GO:0042110 8.96 CD8A CD4
4 cell surface receptor signaling pathway GO:0007166 8.8 CD8A CD4 CASP10

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

# Name GO ID Score Top Affiliating Genes
1 coreceptor activity GO:0015026 8.62 CD8A CD4

Sources for Autoimmune Lymphoproliferative Syndrome, Type Iia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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