MCID: ATM097
MIFTS: 30

Autoimmune Lymphoproliferative Syndrome, Type Iia

Categories: Genetic diseases, Immune diseases, Rare diseases, Blood diseases, Gastrointestinal 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 73
Autoimmune Lymphoproliferative Syndrome, Type Ii 57 75 13 55
Alps2a 57 12 75
Autoimmune Lymphoproliferative Syndrome Type Iia 12 75
Autoimmune Lymphoproliferative Syndrome, Type 2a 29 6
Alps2 57 75
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 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy or childhood


HPO:

32
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 : 75 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, 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.

Description 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
Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency Autosomal Recessive Lymphoproliferative Disease

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 9.9
2 arthritis 9.9
3 lymphoproliferative syndrome 9.9

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome, Type Iia

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
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

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

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 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:

75
# 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 all 42)
# 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.347+9G> T single nucleotide variant Benign rs7608787 GRCh37 Chromosome 2, 202050856: 202050856
4 CASP10 NM_032977.3(CASP10): c.347+9G> T single nucleotide variant Benign rs7608787 GRCh38 Chromosome 2, 201186133: 201186133
5 CASP10 NM_032977.3(CASP10): c.1216A> T (p.Ile406Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs80358239 GRCh38 Chromosome 2, 201209363: 201209363
6 CASP10 NM_032977.3(CASP10): c.1216A> T (p.Ile406Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs80358239 GRCh37 Chromosome 2, 202074086: 202074086
7 CASP10 NM_032977.3(CASP10): c.1347T> C (p.Phe449=) single nucleotide variant Likely benign rs147814983 GRCh38 Chromosome 2, 201209494: 201209494
8 CASP10 NM_032977.3(CASP10): c.1347T> C (p.Phe449=) single nucleotide variant Likely benign rs147814983 GRCh37 Chromosome 2, 202074217: 202074217
9 CASP10 NM_032977.3(CASP10): c.1415+8C> G single nucleotide variant Likely benign rs200638628 GRCh38 Chromosome 2, 201209570: 201209570
10 CASP10 NM_032977.3(CASP10): c.1415+8C> G single nucleotide variant Likely benign rs200638628 GRCh37 Chromosome 2, 202074293: 202074293
11 CASP10 NM_032977.3(CASP10): c.1502C> T (p.Pro501Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148939095 GRCh38 Chromosome 2, 201217674: 201217674
12 CASP10 NM_032977.3(CASP10): c.1502C> T (p.Pro501Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148939095 GRCh37 Chromosome 2, 202082397: 202082397
13 CASP10 NM_032977.3(CASP10): c.174C> T (p.Ala58=) single nucleotide variant Likely benign rs114625983 GRCh37 Chromosome 2, 202050674: 202050674
14 CASP10 NM_032977.3(CASP10): c.174C> T (p.Ala58=) single nucleotide variant Likely benign rs114625983 GRCh38 Chromosome 2, 201185951: 201185951
15 CASP10 NM_032977.3(CASP10): c.923-3C> T single nucleotide variant Benign rs6753900 GRCh38 Chromosome 2, 201209067: 201209067
16 CASP10 NM_032977.3(CASP10): c.923-3C> T single nucleotide variant Benign rs6753900 GRCh37 Chromosome 2, 202073790: 202073790
17 CASP10 NM_032977.3(CASP10): c.347+8C> T single nucleotide variant Likely benign rs140246829 GRCh37 Chromosome 2, 202050855: 202050855
18 CASP10 NM_032977.3(CASP10): c.347+8C> T single nucleotide variant Likely benign rs140246829 GRCh38 Chromosome 2, 201186132: 201186132
19 CASP10 NM_032977.3(CASP10): c.478G> A (p.Gly160Ser) single nucleotide variant Uncertain significance rs781000749 GRCh38 Chromosome 2, 201193020: 201193020
20 CASP10 NM_032977.3(CASP10): c.478G> A (p.Gly160Ser) single nucleotide variant Uncertain significance rs781000749 GRCh37 Chromosome 2, 202057743: 202057743
21 CASP10 NM_032977.3(CASP10): c.491A> C (p.Glu164Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 202057756: 202057756
22 CASP10 NM_032977.3(CASP10): c.491A> C (p.Glu164Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 201193033: 201193033
23 CASP10 NM_032977.3(CASP10): c.715A> T (p.Ser239Cys) single nucleotide variant Likely benign rs41473647 GRCh38 Chromosome 2, 201203760: 201203760
24 CASP10 NM_032977.3(CASP10): c.715A> T (p.Ser239Cys) single nucleotide variant Likely benign rs41473647 GRCh37 Chromosome 2, 202068483: 202068483
25 CASP10 NM_032977.3(CASP10): c.347+10G> T single nucleotide variant Likely benign rs377184631 GRCh37 Chromosome 2, 202050857: 202050857
26 CASP10 NM_032977.3(CASP10): c.347+10G> T single nucleotide variant Likely benign rs377184631 GRCh38 Chromosome 2, 201186134: 201186134
27 CASP10 NM_032977.3(CASP10): c.683C> T (p.Pro228Leu) single nucleotide variant Uncertain significance rs143882052 GRCh38 Chromosome 2, 201195947: 201195947
28 CASP10 NM_032977.3(CASP10): c.683C> T (p.Pro228Leu) single nucleotide variant Uncertain significance rs143882052 GRCh37 Chromosome 2, 202060670: 202060670
29 CASP10 NM_032977.3(CASP10): c.920C> A (p.Ala307Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 201208181: 201208181
30 CASP10 NM_032977.3(CASP10): c.920C> A (p.Ala307Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 202072904: 202072904
31 CASP10 NM_032977.3(CASP10): c.1068G> T (p.Leu356=) single nucleotide variant Benign rs111489269 GRCh38 Chromosome 2, 201209215: 201209215
32 CASP10 NM_032977.3(CASP10): c.1068G> T (p.Leu356=) single nucleotide variant Benign rs111489269 GRCh37 Chromosome 2, 202073938: 202073938
33 CASP10 NM_032977.3(CASP10): c.247C> G (p.Leu83Val) single nucleotide variant Uncertain significance rs759913674 GRCh38 Chromosome 2, 201186024: 201186024
34 CASP10 NM_032977.3(CASP10): c.247C> G (p.Leu83Val) single nucleotide variant Uncertain significance rs759913674 GRCh37 Chromosome 2, 202050747: 202050747
35 CASP10 NM_032977.3(CASP10): c.953G> A (p.Gly318Glu) single nucleotide variant Uncertain significance rs138931498 GRCh37 Chromosome 2, 202073823: 202073823
36 CASP10 NM_032977.3(CASP10): c.953G> A (p.Gly318Glu) single nucleotide variant Uncertain significance rs138931498 GRCh38 Chromosome 2, 201209100: 201209100
37 CASP10 NM_032977.3(CASP10): c.1093delT (p.Tyr365Thrfs) deletion Uncertain significance GRCh38 Chromosome 2, 201209240: 201209240
38 CASP10 NM_032977.3(CASP10): c.1093delT (p.Tyr365Thrfs) deletion Uncertain significance GRCh37 Chromosome 2, 202073963: 202073963
39 CASP10 NM_032977.3(CASP10): c.1202_1208delGCCAAGG (p.Cys401Leufs) deletion Uncertain significance GRCh38 Chromosome 2, 201209349: 201209355
40 CASP10 NM_032977.3(CASP10): c.1202_1208delGCCAAGG (p.Cys401Leufs) deletion Uncertain significance GRCh37 Chromosome 2, 202074072: 202074078
41 CASP10 NM_032977.3(CASP10): c.1296C> T (p.Ala432=) single nucleotide variant Benign rs41331850 GRCh38 Chromosome 2, 201209443: 201209443
42 CASP10 NM_032977.3(CASP10): c.1296C> T (p.Ala432=) single nucleotide variant Benign rs41331850 GRCh37 Chromosome 2, 202074166: 202074166

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....