ALPS2A
MCID: ATM097
MIFTS: 30

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 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:



Summaries for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

Related Diseases for Autoimmune Lymphoproliferative Syndrome, Type Iia

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:

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 autoimmune hemolytic anemia 33 HP:0001890
9 autoimmune thrombocytopenia 33 HP:0001973
10 increased igg level 33 HP:0003237
11 smooth muscle antibody positivity 33 HP:0003262
12 antineutrophil antibody positivity 33 HP:0003453
13 antinuclear antibody positivity 33 HP:0003493
14 increased igm level 33 HP:0003496
15 increased iga level 33 HP:0003261
16 nephritis 33 HP:0000123
17 antiphospholipid antibody positivity 33 HP:0003613
18 follicular hyperplasia 33 HP:0002729
19 malar rash 33 HP:0025300
20 chronic noninfectious lymphadenopathy 33 HP:0002730
21 rheumatoid factor positive 33 HP:0002923
22 coombs-positive hemolytic anemia 33 HP:0004844
23 reduced delayed hypersensitivity 33 HP:0002972
24 platelet antibody positive 33 HP:0003454
25 neutropenia in presence of anti-neutropil antibodies 33 HP:0001904
26 decreased lymphocyte apoptosis 33 HP:0002731
27 elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells 33 HP:0002851
28 increased proportion of hla dr+ t cells 33 HP:0002853
29 increased b cell count 33 HP:0005404

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

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 30 CASP10

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

42
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 Year
1
Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. ( 21382177 )
2011
2
Revision of the diagnosis of T-zone lymphoma in the father of a patient with autoimmune lymphoproliferative syndrome type II. ( 10520011 )
1999
3
Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II. ( 10412980 )
1999

Variations for Autoimmune Lymphoproliferative Syndrome, Type Iia

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 66)
# 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 GRCh38 Chromosome 2, 201186133: 201186133
10 CASP10 NM_032977.3(CASP10): c.347+9G> T single nucleotide variant Benign rs7608787 GRCh37 Chromosome 2, 202050856: 202050856
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 GRCh38 Chromosome 2, 201185951: 201185951
20 CASP10 NM_032977.3(CASP10): c.174C> T (p.Ala58=) single nucleotide variant Likely benign rs114625983 GRCh37 Chromosome 2, 202050674: 202050674
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 GRCh38 Chromosome 2, 201186132: 201186132
24 CASP10 NM_032977.3(CASP10): c.347+8C> T single nucleotide variant Likely benign rs140246829 GRCh37 Chromosome 2, 202050855: 202050855
25 CASP10 NM_032977.3(CASP10): c.478G> A (p.Gly160Ser) single nucleotide variant Uncertain significance rs781000749 GRCh38 Chromosome 2, 201193020: 201193020
26 CASP10 NM_032977.3(CASP10): c.478G> A (p.Gly160Ser) single nucleotide variant Uncertain significance rs781000749 GRCh37 Chromosome 2, 202057743: 202057743
27 CASP10 NM_032977.3(CASP10): c.491A> C (p.Glu164Ala) single nucleotide variant Uncertain significance rs1165543405 GRCh38 Chromosome 2, 201193033: 201193033
28 CASP10 NM_032977.3(CASP10): c.491A> C (p.Glu164Ala) single nucleotide variant Uncertain significance rs1165543405 GRCh37 Chromosome 2, 202057756: 202057756
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 GRCh37 Chromosome 2, 202050857: 202050857
32 CASP10 NM_032977.3(CASP10): c.347+10G> T single nucleotide variant Likely benign rs377184631 GRCh38 Chromosome 2, 201186134: 201186134
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 GRCh37 Chromosome 2, 202073963: 202073963
44 CASP10 NM_032977.3(CASP10): c.1093delT (p.Tyr365Thrfs) deletion Uncertain significance rs781003519 GRCh38 Chromosome 2, 201209240: 201209240
45 CASP10 NM_032977.3(CASP10): c.1202_1208delGCCAAGG (p.Cys401Leufs) deletion Uncertain significance rs747900630 GRCh37 Chromosome 2, 202074072: 202074078
46 CASP10 NM_032977.3(CASP10): c.1202_1208delGCCAAGG (p.Cys401Leufs) deletion Uncertain significance rs747900630 GRCh38 Chromosome 2, 201209349: 201209355
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 GRCh38 Chromosome 2, 201186087: 201186087
50 CASP10 NM_032977.3(CASP10): c.310C> T (p.Arg104Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 202050810: 202050810

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

GO Terms for Autoimmune Lymphoproliferative Syndrome, Type Iia

Sources for Autoimmune Lymphoproliferative Syndrome, Type Iia

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