ALPS2A
MCID: ATM097
MIFTS: 32

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 57 72
Autoimmune Lymphoproliferative Syndrome, Type Ii 57 74 13 55
Alps2a 57 12 74
Autoimmune Lymphoproliferative Syndrome Type Iia 12 74
Autoimmune Lymphoproliferative Syndrome, Type 2a 29 6
Alps2 57 74
Autoimmune Lymphoproliferative Syndrome, Type Ii; Alps2 57
Autoimmune Lymphoproliferative Syndrome Type 2a 12
Autoimmune Lymphoproliferative Syndrome, Type 2 40
Autoimmune Lymphoproliferative Syndrome Type 2 6
Autoimmune Lymphoproliferative Syndrome 2a 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or childhood


HPO:

32
autoimmune lymphoproliferative syndrome, type iia:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0110115
OMIM 57 603909
MeSH 44 D056735
ICD10 33 D47.9
MedGen 42 C1858968
UMLS 72 C1858968

Summaries for Autoimmune Lymphoproliferative Syndrome, Type Iia

UniProtKB/Swiss-Prot : 74 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 exanthem. An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type Iia is CASP10 (Caspase 10). Affiliated tissues include t cells, b cells and smooth muscle, 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

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:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 urticaria 32 HP:0001025
4 nephrotic syndrome 32 HP:0000100
5 iron deficiency anemia 32 HP:0001891
6 vasculitis 32 HP:0002633
7 eosinophilia 32 HP:0001880
8 antineutrophil antibody positivity 32 HP:0003453
9 autoimmune hemolytic anemia 32 HP:0001890
10 autoimmune thrombocytopenia 32 HP:0001973
11 neutropenia in presence of anti-neutropil antibodies 32 HP:0001904
12 smooth muscle antibody positivity 32 HP:0003262
13 antinuclear antibody positivity 32 HP:0003493
14 nephritis 32 HP:0000123
15 antiphospholipid antibody positivity 32 HP:0003613
16 chronic noninfectious lymphadenopathy 32 HP:0002730
17 elevated proportion of cd4-negative, cd8-negative, alpha-beta regulatory t cells 32 HP:0002851
18 increased b cell count 32 HP:0005404
19 rheumatoid factor positive 32 HP:0002923
20 coombs-positive hemolytic anemia 32 HP:0004844
21 follicular hyperplasia 32 HP:0002729
22 malar rash 32 HP:0025300
23 increased circulating igg level 32 HP:0003237
24 increased circulating iga level 32 HP:0003261
25 platelet antibody positive 32 HP:0003454
26 increased circulating igm level 32 HP:0003496
27 reduced delayed hypersensitivity 32 HP:0002972
28 decreased lymphocyte apoptosis 32 HP:0002731
29 increased proportion of hla dr+ t cells 32 HP:0002853

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Skin Nails Hair Skin:
urticaria
malar rash
vasculitis rash

Hematology:
iron deficiency anemia
eosinophilia
autoimmune hemolytic anemia
autoimmune thrombocytopenia
autoimmune neutropenia

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

Genitourinary Kidneys:
nephrotic syndrome
nephritis
membranous glomerulonephropathy

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

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:

41
T Cells, B Cells, Smooth Muscle, 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. 9 38 8 71
10412980 1999
2
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome. 8 71
16446975 2006
3
Analysis of protein-coding genetic variation in 60,706 humans. 71
27535533 2016
4
Autoimmune Lymphoproliferative Syndrome 71
20301287 2006
5
Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis. 8
9028957 1997
6
Mutations in apoptosis genes: a pathogenetic factor for human disease. 9 38
11397650 2001
7
Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa. 38
21382177 2011
8
Revision of the diagnosis of T-zone lymphoma in the father of a patient with autoimmune lymphoproliferative syndrome type II. 38
10520011 1999
9
Reversible monoclonal lymphadenopathy in autoimmune lymphoproliferative syndrome with functional FAS (CD95/APO-1) deficiency. 38
10403307 1999

Variations for Autoimmune Lymphoproliferative Syndrome, Type Iia

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

6 (show all 45)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CASP10 NM_032977.3(CASP10): c.853C> T (p.Leu285Phe) single nucleotide variant Pathogenic rs17860403 2:202072837-202072837 2:201208114-201208114
2 CASP10 NM_032977.3(CASP10): c.1216A> C (p.Ile406Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs80358239 2:202074086-202074086 2:201209363-201209363
3 CASP10 NM_032977.3(CASP10): c.1216A> T (p.Ile406Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs80358239 2:202074086-202074086 2:201209363-201209363
4 CASP10 NM_032977.3(CASP10): c.1466G> A (p.Arg489Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs535121774 2:202082361-202082361 2:201217638-201217638
5 CASP10 NM_032977.3(CASP10): c.1502C> T (p.Pro501Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148939095 2:202082397-202082397 2:201217674-201217674
6 CASP10 NM_032977.3(CASP10): c.683C> T (p.Pro228Leu) single nucleotide variant Uncertain significance rs143882052 2:202060670-202060670 2:201195947-201195947
7 CASP10 NM_032977.3(CASP10): c.920C> A (p.Ala307Asp) single nucleotide variant Uncertain significance rs1291372845 2:202072904-202072904 2:201208181-201208181
8 CASP10 NM_032977.3(CASP10): c.478G> A (p.Gly160Ser) single nucleotide variant Uncertain significance rs781000749 2:202057743-202057743 2:201193020-201193020
9 CASP10 NM_032977.3(CASP10): c.491A> C (p.Glu164Ala) single nucleotide variant Uncertain significance rs1165543405 2:202057756-202057756 2:201193033-201193033
10 CASP10 NM_032977.3(CASP10): c.247C> G (p.Leu83Val) single nucleotide variant Uncertain significance rs759913674 2:202050747-202050747 2:201186024-201186024
11 CASP10 NM_032977.3(CASP10): c.953G> A (p.Gly318Glu) single nucleotide variant Uncertain significance rs138931498 2:202073823-202073823 2:201209100-201209100
12 CASP10 NM_032977.3(CASP10): c.1093del (p.Tyr365fs) deletion Uncertain significance rs781003519 2:202073963-202073963 2:201209240-201209240
13 CASP10 NM_032977.3(CASP10): c.1202_1208del (p.Cys401fs) deletion Uncertain significance rs747900630 2:202074072-202074078 2:201209349-201209355
14 CASP10 NM_032977.3(CASP10): c.310C> T (p.Arg104Ter) single nucleotide variant Uncertain significance 2:202050810-202050810 2:201186087-201186087
15 CASP10 NM_032977.3(CASP10): c.516C> G (p.Asp172Glu) single nucleotide variant Uncertain significance 2:202057781-202057781 2:201193058-201193058
16 CASP10 NM_032977.3(CASP10): c.226C> A (p.Pro76Thr) single nucleotide variant Uncertain significance 2:202050726-202050726 2:201186003-201186003
17 CASP10 NM_032977.3(CASP10): c.507C> G (p.Cys169Trp) single nucleotide variant Uncertain significance 2:202057772-202057772 2:201193049-201193049
18 CASP10 NM_032977.3(CASP10): c.1101G> A (p.Ser367=) single nucleotide variant Uncertain significance 2:202073971-202073971 2:201209248-201209248
19 CASP10 NM_032977.3(CASP10): c.1271C> T (p.Thr424Ile) single nucleotide variant Uncertain significance 2:202074141-202074141 2:201209418-201209418
20 CASP10 NM_032977.3(CASP10): c.199G> T (p.Ala67Ser) single nucleotide variant Uncertain significance 2:202050699-202050699 2:201185976-201185976
21 CASP10 NM_032977.3(CASP10): c.413T> C (p.Leu138Pro) single nucleotide variant Uncertain significance 2:202052494-202052494 2:201187771-201187771
22 CASP10 NM_032977.3(CASP10): c.616G> A (p.Glu206Lys) single nucleotide variant Uncertain significance 2:202060603-202060603 2:201195880-201195880
23 CASP10 NM_032977.3(CASP10): c.620C> T (p.Ser207Leu) single nucleotide variant Uncertain significance 2:202060607-202060607 2:201195884-201195884
24 CASP10 NM_032977.3(CASP10): c.664A> G (p.Thr222Ala) single nucleotide variant Uncertain significance 2:202060651-202060651 2:201195928-201195928
25 CASP10 NM_032977.3(CASP10): c.910C> T (p.His304Tyr) single nucleotide variant Uncertain significance 2:202072894-202072894 2:201208171-201208171
26 CASP10 NM_032977.3(CASP10): c.1148C> A (p.Ala383Asp) single nucleotide variant Uncertain significance 2:202074018-202074018 2:201209295-201209295
27 CASP10 NM_032977.3(CASP10): c.1321G> A (p.Ala441Thr) single nucleotide variant Uncertain significance 2:202074191-202074191 2:201209468-201209468
28 CASP10 NM_032977.3(CASP10): c.1348C> T (p.Arg450Trp) single nucleotide variant Uncertain significance 2:202074218-202074218 2:201209495-201209495
29 CASP10 NC_000002.11: g.(?_202068433)_(202074305_?)del deletion Uncertain significance 2:202068433-202074305 2:201203710-201209582
30 CASP10 NM_032977.3(CASP10): c.1460T> G (p.Val487Gly) single nucleotide variant Uncertain significance 2:202082355-202082355 2:201217632-201217632
31 CASP10 NM_032977.3(CASP10): c.259C> T (p.Arg87Trp) single nucleotide variant Uncertain significance 2:202050759-202050759 2:201186036-201186036
32 CASP10 NM_032977.3(CASP10): c.1297G> A (p.Glu433Lys) single nucleotide variant Uncertain significance 2:202074167-202074167 2:201209444-201209444
33 CASP10 NM_032977.3(CASP10): c.1197G> T (p.Gln399His) single nucleotide variant Uncertain significance 2:202074067-202074067 2:201209344-201209344
34 CASP10 NM_032977.3(CASP10): c.715A> T (p.Ser239Cys) single nucleotide variant Likely benign rs41473647 2:202068483-202068483 2:201203760-201203760
35 CASP10 NM_032977.3(CASP10): c.347+10G> T single nucleotide variant Likely benign rs377184631 2:202050857-202050857 2:201186134-201186134
36 CASP10 NM_032977.3(CASP10): c.1347T> C (p.Phe449=) single nucleotide variant Likely benign rs147814983 2:202074217-202074217 2:201209494-201209494
37 CASP10 NM_032977.3(CASP10): c.1415+8C> G single nucleotide variant Likely benign rs200638628 2:202074293-202074293 2:201209570-201209570
38 CASP10 NM_032977.3(CASP10): c.174C> T (p.Ala58=) single nucleotide variant Likely benign rs114625983 2:202050674-202050674 2:201185951-201185951
39 CASP10 NM_032977.3(CASP10): c.347+8C> T single nucleotide variant Likely benign rs140246829 2:202050855-202050855 2:201186132-201186132
40 CASP10 NM_032977.3(CASP10): c.1228G> A (p.Val410Ile) single nucleotide variant Benign/Likely benign rs13010627 2:202074098-202074098 2:201209375-201209375
41 CASP10 NM_032977.3(CASP10): c.1337A> G (p.Tyr446Cys) single nucleotide variant Benign rs17860405 2:202074207-202074207 2:201209484-201209484
42 CASP10 NM_032977.3(CASP10): c.347+9G> T single nucleotide variant Benign rs7608787 2:202050856-202050856 2:201186133-201186133
43 CASP10 NM_032977.3(CASP10): c.1296C> T (p.Ala432=) single nucleotide variant Benign rs41331850 2:202074166-202074166 2:201209443-201209443
44 CASP10 NM_032977.3(CASP10): c.923-3C> T single nucleotide variant Benign rs6753900 2:202073790-202073790 2:201209067-201209067
45 CASP10 NM_032977.3(CASP10): c.1068G> T (p.Leu356=) single nucleotide variant Benign rs111489269 2:202073938-202073938 2:201209215-201209215

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

74
# 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

GO Terms for Autoimmune Lymphoproliferative Syndrome, Type Iia

Sources for Autoimmune Lymphoproliferative Syndrome, Type Iia

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