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ALPS2A
MCID: ATM097
MIFTS: 30

Autoimmune Lymphoproliferative Syndrome, Type Iia (ALPS2A)

Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type Iia

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MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome, Type Iia:

Name: Autoimmune Lymphoproliferative Syndrome, Type Iia 58 74
Autoimmune Lymphoproliferative Syndrome, Type Ii 58 76 13 56
Alps2a 58 12 76
Autoimmune Lymphoproliferative Syndrome Type Iia 12 76
Autoimmune Lymphoproliferative Syndrome, Type 2a 30 6
Alps2 58 76
Autoimmune Lymphoproliferative Syndrome, Type Ii; Alps2 58
Autoimmune Lymphoproliferative Syndrome Type 2a 12
Autoimmune Lymphoproliferative Syndrome, Type 2 41
Autoimmune Lymphoproliferative Syndrome Type 2 6
Autoimmune Lymphoproliferative Syndrome 2a 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or childhood


HPO:

33
autoimmune lymphoproliferative syndrome, type iia:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Immune diseases Blood diseases Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 34


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Summaries for Autoimmune Lymphoproliferative Syndrome, Type Iia

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UniProtKB/Swiss-Prot : 76 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 autoimmune lymphoproliferative syndrome and arthritis. An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type Iia is CASP10 (Caspase 10). 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.

Description from OMIM: 603909
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Related Diseases for Autoimmune Lymphoproliferative Syndrome, Type Iia

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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

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

# Related Disease Score Top Affiliating Genes
1 autoimmune lymphoproliferative syndrome 10.1
2 arthritis 10.1
3 lymphoproliferative syndrome 10.1
4 juvenile rheumatoid arthritis 10.1
5 systemic onset juvenile idiopathic arthritis 10.1
6 autoimmune disease 10.0
7 lymphoma 10.0

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



Diseases related to Autoimmune Lymphoproliferative Syndrome, Type Iia
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Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome, Type Iia

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Human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

33 (show all 29)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 hepatomegaly 33 HP:0002240
3 nephrotic syndrome 33 HP:0000100
4 iron deficiency anemia 33 HP:0001891
5 urticaria 33 HP:0001025
6 vasculitis 33 HP:0002633
7 eosinophilia 33 HP:0001880
8 antineutrophil antibody positivity 33 HP:0003453
9 autoimmune hemolytic anemia 33 HP:0001890
10 autoimmune thrombocytopenia 33 HP:0001973
11 neutropenia in presence of anti-neutropil antibodies 33 HP:0001904
12 smooth muscle antibody positivity 33 HP:0003262
13 antinuclear antibody positivity 33 HP:0003493
14 nephritis 33 HP:0000123
15 antiphospholipid antibody positivity 33 HP:0003613
16 chronic noninfectious lymphadenopathy 33 HP:0002730
17 elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells 33 HP:0002851
18 increased b cell count 33 HP:0005404
19 rheumatoid factor positive 33 HP:0002923
20 coombs-positive hemolytic anemia 33 HP:0004844
21 follicular hyperplasia 33 HP:0002729
22 malar rash 33 HP:0025300
23 reduced delayed hypersensitivity 33 HP:0002972
24 platelet antibody positive 33 HP:0003454
25 increased circulating igg level 33 HP:0003237
26 increased circulating iga level 33 HP:0003261
27 increased circulating igm level 33 HP:0003496
28 decreased lymphocyte apoptosis 33 HP:0002731
29 increased proportion of hla dr+ t cells 33 HP:0002853

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Genitourinary Kidneys:
nephrotic syndrome
nephritis
membranous glomerulonephropathy

Skin Nails Hair Skin:
urticaria
malar rash
vasculitis rash

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

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

Clinical features from OMIM:

603909
Sources

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

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Genetic Tests for Autoimmune Lymphoproliferative Syndrome, Type Iia

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Genetic tests related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

# Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome, Type 2a 30 CASP10
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Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

42
T Cells, Smooth Muscle, B Cells, Lymph Node, Neutrophil
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Publications for Autoimmune Lymphoproliferative Syndrome, Type Iia

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Articles related to Autoimmune Lymphoproliferative Syndrome, Type Iia:

# Title Authors Year
1
Analysis of protein-coding genetic variation in 60,706 humans. ( 27535533 )
2016
2
Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update. ( 23852704 )
2014
3
Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. ( 21382177 )
2011
4
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. ( 16446975 )
2006
5
Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. ( 10412980 )
1999
6
Revision of the diagnosis of T-zone lymphoma in the father of a patient with autoimmune lymphoproliferative syndrome type II. ( 10520011 )
1999
Sources

Variations for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

76
# Symbol AA change Variation ID SNP ID
1 CASP10 p.Leu285Phe VAR_014071 rs17860403

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

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 CASP10 NM_032977.3(CASP10): c.853C> T (p.Leu285Phe) single nucleotide variant Pathogenic rs17860403 GRCh37 Chromosome 2, 202072837: 202072837
2 CASP10 NM_032977.3(CASP10): c.853C> T (p.Leu285Phe) single nucleotide variant Pathogenic rs17860403 GRCh38 Chromosome 2, 201208114: 201208114
3 CASP10 NM_032977.3(CASP10): c.1216A> C (p.Ile406Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs80358239 GRCh37 Chromosome 2, 202074086: 202074086
4 CASP10 NM_032977.3(CASP10): c.1216A> C (p.Ile406Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs80358239 GRCh38 Chromosome 2, 201209363: 201209363
5 CASP10 NM_032977.3(CASP10): c.1228G> A (p.Val410Ile) single nucleotide variant Benign/Likely benign rs13010627 GRCh37 Chromosome 2, 202074098: 202074098
6 CASP10 NM_032977.3(CASP10): c.1228G> A (p.Val410Ile) single nucleotide variant Benign/Likely benign rs13010627 GRCh38 Chromosome 2, 201209375: 201209375
7 CASP10 NM_032977.3(CASP10): c.1337A> G (p.Tyr446Cys) single nucleotide variant Benign rs17860405 GRCh37 Chromosome 2, 202074207: 202074207
8 CASP10 NM_032977.3(CASP10): c.1337A> G (p.Tyr446Cys) single nucleotide variant Benign rs17860405 GRCh38 Chromosome 2, 201209484: 201209484
9 CASP10 NM_032977.3(CASP10): c.347+9G> T single nucleotide variant Benign rs7608787 GRCh37 Chromosome 2, 202050856: 202050856
10 CASP10 NM_032977.3(CASP10): c.347+9G> T single nucleotide variant Benign rs7608787 GRCh38 Chromosome 2, 201186133: 201186133
11 CASP10 NM_032977.3(CASP10): c.1216A> T (p.Ile406Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs80358239 GRCh38 Chromosome 2, 201209363: 201209363
12 CASP10 NM_032977.3(CASP10): c.1216A> T (p.Ile406Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs80358239 GRCh37 Chromosome 2, 202074086: 202074086
13 CASP10 NM_032977.3(CASP10): c.1347T> C (p.Phe449=) single nucleotide variant Likely benign rs147814983 GRCh38 Chromosome 2, 201209494: 201209494
14 CASP10 NM_032977.3(CASP10): c.1347T> C (p.Phe449=) single nucleotide variant Likely benign rs147814983 GRCh37 Chromosome 2, 202074217: 202074217
15 CASP10 NM_032977.3(CASP10): c.1415+8C> G single nucleotide variant Likely benign rs200638628 GRCh38 Chromosome 2, 201209570: 201209570
16 CASP10 NM_032977.3(CASP10): c.1415+8C> G single nucleotide variant Likely benign rs200638628 GRCh37 Chromosome 2, 202074293: 202074293
17 CASP10 NM_032977.3(CASP10): c.1502C> T (p.Pro501Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148939095 GRCh38 Chromosome 2, 201217674: 201217674
18 CASP10 NM_032977.3(CASP10): c.1502C> T (p.Pro501Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148939095 GRCh37 Chromosome 2, 202082397: 202082397
19 CASP10 NM_032977.3(CASP10): c.174C> T (p.Ala58=) single nucleotide variant Likely benign rs114625983 GRCh37 Chromosome 2, 202050674: 202050674
20 CASP10 NM_032977.3(CASP10): c.174C> T (p.Ala58=) single nucleotide variant Likely benign rs114625983 GRCh38 Chromosome 2, 201185951: 201185951
21 CASP10 NM_032977.3(CASP10): c.923-3C> T single nucleotide variant Benign rs6753900 GRCh38 Chromosome 2, 201209067: 201209067
22 CASP10 NM_032977.3(CASP10): c.923-3C> T single nucleotide variant Benign rs6753900 GRCh37 Chromosome 2, 202073790: 202073790
23 CASP10 NM_032977.3(CASP10): c.347+8C> T single nucleotide variant Likely benign rs140246829 GRCh37 Chromosome 2, 202050855: 202050855
24 CASP10 NM_032977.3(CASP10): c.347+8C> T single nucleotide variant Likely benign rs140246829 GRCh38 Chromosome 2, 201186132: 201186132
25 CASP10 NM_032977.3(CASP10): c.478G> A (p.Gly160Ser) single nucleotide variant Uncertain significance rs781000749 GRCh37 Chromosome 2, 202057743: 202057743
26 CASP10 NM_032977.3(CASP10): c.478G> A (p.Gly160Ser) single nucleotide variant Uncertain significance rs781000749 GRCh38 Chromosome 2, 201193020: 201193020
27 CASP10 NM_032977.3(CASP10): c.491A> C (p.Glu164Ala) single nucleotide variant Uncertain significance rs1165543405 GRCh37 Chromosome 2, 202057756: 202057756
28 CASP10 NM_032977.3(CASP10): c.491A> C (p.Glu164Ala) single nucleotide variant Uncertain significance rs1165543405 GRCh38 Chromosome 2, 201193033: 201193033
29 CASP10 NM_032977.3(CASP10): c.715A> T (p.Ser239Cys) single nucleotide variant Likely benign rs41473647 GRCh37 Chromosome 2, 202068483: 202068483
30 CASP10 NM_032977.3(CASP10): c.715A> T (p.Ser239Cys) single nucleotide variant Likely benign rs41473647 GRCh38 Chromosome 2, 201203760: 201203760
31 CASP10 NM_032977.3(CASP10): c.347+10G> T single nucleotide variant Likely benign rs377184631 GRCh38 Chromosome 2, 201186134: 201186134
32 CASP10 NM_032977.3(CASP10): c.347+10G> T single nucleotide variant Likely benign rs377184631 GRCh37 Chromosome 2, 202050857: 202050857
33 CASP10 NM_032977.3(CASP10): c.683C> T (p.Pro228Leu) single nucleotide variant Uncertain significance rs143882052 GRCh38 Chromosome 2, 201195947: 201195947
34 CASP10 NM_032977.3(CASP10): c.683C> T (p.Pro228Leu) single nucleotide variant Uncertain significance rs143882052 GRCh37 Chromosome 2, 202060670: 202060670
35 CASP10 NM_032977.3(CASP10): c.920C> A (p.Ala307Asp) single nucleotide variant Uncertain significance rs1291372845 GRCh38 Chromosome 2, 201208181: 201208181
36 CASP10 NM_032977.3(CASP10): c.920C> A (p.Ala307Asp) single nucleotide variant Uncertain significance rs1291372845 GRCh37 Chromosome 2, 202072904: 202072904
37 CASP10 NM_032977.3(CASP10): c.1068G> T (p.Leu356=) single nucleotide variant Benign rs111489269 GRCh38 Chromosome 2, 201209215: 201209215
38 CASP10 NM_032977.3(CASP10): c.1068G> T (p.Leu356=) single nucleotide variant Benign rs111489269 GRCh37 Chromosome 2, 202073938: 202073938
39 CASP10 NM_032977.3(CASP10): c.247C> G (p.Leu83Val) single nucleotide variant Uncertain significance rs759913674 GRCh38 Chromosome 2, 201186024: 201186024
40 CASP10 NM_032977.3(CASP10): c.247C> G (p.Leu83Val) single nucleotide variant Uncertain significance rs759913674 GRCh37 Chromosome 2, 202050747: 202050747
41 CASP10 NM_032977.3(CASP10): c.953G> A (p.Gly318Glu) single nucleotide variant Uncertain significance rs138931498 GRCh38 Chromosome 2, 201209100: 201209100
42 CASP10 NM_032977.3(CASP10): c.953G> A (p.Gly318Glu) single nucleotide variant Uncertain significance rs138931498 GRCh37 Chromosome 2, 202073823: 202073823
43 CASP10 NM_032977.3(CASP10): c.1093delT (p.Tyr365Thrfs) deletion Uncertain significance rs781003519 GRCh38 Chromosome 2, 201209240: 201209240
44 CASP10 NM_032977.3(CASP10): c.1093delT (p.Tyr365Thrfs) deletion Uncertain significance rs781003519 GRCh37 Chromosome 2, 202073963: 202073963
45 CASP10 NM_032977.3(CASP10): c.1202_1208delGCCAAGG (p.Cys401Leufs) deletion Uncertain significance rs747900630 GRCh38 Chromosome 2, 201209349: 201209355
46 CASP10 NM_032977.3(CASP10): c.1202_1208delGCCAAGG (p.Cys401Leufs) deletion Uncertain significance rs747900630 GRCh37 Chromosome 2, 202074072: 202074078
47 CASP10 NM_032977.3(CASP10): c.1296C> T (p.Ala432=) single nucleotide variant Benign rs41331850 GRCh37 Chromosome 2, 202074166: 202074166
48 CASP10 NM_032977.3(CASP10): c.1296C> T (p.Ala432=) single nucleotide variant Benign rs41331850 GRCh38 Chromosome 2, 201209443: 201209443
49 CASP10 NM_032977.3(CASP10): c.310C> T (p.Arg104Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 202050810: 202050810
50 CASP10 NM_032977.3(CASP10): c.310C> T (p.Arg104Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 201186087: 201186087
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Expression for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

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GO Terms for Autoimmune Lymphoproliferative Syndrome, Type Iia

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Sources for Autoimmune Lymphoproliferative Syndrome, Type Iia

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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