ALPS5
MCID: ATM082
MIFTS: 52

Autoimmune Lymphoproliferative Syndrome, Type V (ALPS5)

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

Aliases & Classifications for Autoimmune Lymphoproliferative Syndrome, Type V

MalaCards integrated aliases for Autoimmune Lymphoproliferative Syndrome, Type V:

Name: Autoimmune Lymphoproliferative Syndrome, Type V 58 30 6 41 74
Alps5 58 76
Chai 58 60
Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency 60
Ctla-4 Haploinsufficiency with Autoimmune Infiltration Disease 60
Ctla4 Haploinsufficiency with Autoimmune Infiltration; Chai 58
Ctla4 Haploinsufficiency with Autoimmune Infiltration 58
Autoimmune Lymphoproliferative Syndrome Type V 76
Autoimmune Lymphoproliferative Syndrome 5 76
Alps Due to Ctla4 Haploinsuffiency 60
Lymphoproliferative Disorders 74

Characteristics:

Orphanet epidemiological data:

60
autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult,Childhood; Age of death: adult;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
variable age at onset (childhood to adulthood)


HPO:

33
autoimmune lymphoproliferative syndrome, type v:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autoimmune Lymphoproliferative Syndrome, Type V

OMIM : 58 Autoimmune lymphoproliferative syndrome type V is an autosomal dominant complex immune disorder characterized by autoimmune thrombocytopenias and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. Some patients may show features of an immunodeficiency syndrome with recurrent infections, but immunosuppressive therapy often results in clinical improvement (summary by Kuehn et al., 2014). For a general description and a discussion of genetic heterogeneity of ALPS, see 601859. (616100)

MalaCards based summary : Autoimmune Lymphoproliferative Syndrome, Type V, also known as alps5, is related to autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency and adult lymphoma, and has symptoms including diarrhea An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type V is CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4), and among its related pathways/superpathways are T cell receptor signaling pathway and NF-kappaB Signaling. Affiliated tissues include b cells, t cells and lung, and related phenotypes are recurrent upper respiratory tract infections and eczema

UniProtKB/Swiss-Prot : 76 Autoimmune lymphoproliferative syndrome 5: An autosomal dominant primary immunodeficiency characterized by severe autoimmunity, infiltration of non-lymphoid organs, such as the intestine, lungs and brain, by hyperactive T cells and B cells, autoimmune cytopenias, and hypogammaglobulinemia in early childhood.

Related Diseases for Autoimmune Lymphoproliferative Syndrome, Type V

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 V via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency 11.6
2 adult lymphoma 10.2 ALK CD5
3 breast lymphoma 10.2 BCL6 CD5
4 dendritic cell thymoma 10.2 BCL2 CD5
5 primary cutaneous anaplastic large cell lymphoma 10.2 ALK TIA1
6 ectopic thymus 10.2 BCL2 CD5
7 epidural neoplasm 10.2 BCL6 CD5
8 epithelial malignant thymoma 10.2 BCL2 CD5
9 t-cell adult acute lymphocytic leukemia 10.1 CD5 TIA1
10 high grade b-cell lymphoma with myc and/ or bcl2 and/or bcl6 rearrangement 10.1 BCL2 BCL6
11 nodal marginal zone b-cell lymphoma 10.1 BCL2 BCL6
12 follicular lymphoma 1 10.1 BCL2 BCL6
13 thymoma 10.1 CD5 CTLA4 TRB
14 alk-negative anaplastic large cell lymphoma 10.1 ALK BCL2
15 pancreatitis 10.1
16 type ii mixed cryoglobulinemia 10.1 CD5 FAS
17 primary central nervous system lymphoma 10.1 BCL2 BCL6
18 necrotizing sialometaplasia 10.1 CD5 TIA1
19 human herpesvirus 8 10.1 BCL2 BCL6
20 gastric lymphoma 10.1 BCL2 BCL6
21 ileum cancer 10.0 CD5 TIA1
22 lymphoblastic lymphoma 10.0 BCL6 CD5 TRB
23 colon lymphoma 10.0 ALK BCL6 CD5
24 lung lymphoma 10.0 ALK BCL6 CD5
25 lymphoma, hodgkin, classic 10.0 ALK BCL6 CD5
26 splenic marginal zone lymphoma 10.0 BCL6 CD5
27 lymphocytic gastritis 10.0 FAS TIA1
28 kashin-beck disease 10.0 BCL2 FAS
29 b-cell expansion with nfkb and t-cell anergy 10.0 CD5 TIA1 TRB
30 lymphosarcoma 10.0 BCL6 CD5 SH2D1A
31 cartilage-hair hypoplasia 10.0 BCL2 FAS
32 angioimmunoblastic t-cell lymphoma 10.0 BCL6 TIA1
33 mature b-cell neoplasm 10.0 BCL6 SH2D1A
34 lymphoproliferative syndrome 9.9 CTLA4 FAS SH2D1A
35 renal cell carcinoma, nonpapillary 9.9
36 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 9.9
37 microvascular complications of diabetes 3 9.9
38 microvascular complications of diabetes 4 9.9
39 microvascular complications of diabetes 6 9.9
40 microvascular complications of diabetes 7 9.9
41 blood group, gerbich system 9.9
42 liver disease 9.9
43 lymphedema 9.9
44 nonalcoholic fatty liver disease 9.9
45 esophagitis 9.9
46 peptic esophagitis 9.9
47 cholecystitis 9.9
48 acute pancreatitis 9.9
49 fatty liver disease 9.9
50 cluster headache 9.9

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



Diseases related to Autoimmune Lymphoproliferative Syndrome, Type V

Symptoms & Phenotypes for Autoimmune Lymphoproliferative Syndrome, Type V

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type V:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 recurrent upper respiratory tract infections 33 occasional (7.5%) HP:0002788
2 eczema 33 occasional (7.5%) HP:0000964
3 psoriasiform dermatitis 33 occasional (7.5%) HP:0003765
4 splenomegaly 33 HP:0001744
5 hepatomegaly 33 HP:0002240
6 decreased antibody level in blood 33 HP:0004313
7 lymphopenia 33 HP:0001888
8 diarrhea 33 HP:0002014
9 lymphadenopathy 33 HP:0002716
10 autoimmune hemolytic anemia 33 HP:0001890
11 autoimmune thrombocytopenia 33 HP:0001973

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Abdomen Gastrointestinal:
diarrhea
lymphocytic enteropathy

Hematology:
autoimmune hemolytic anemia
autoimmune thrombocytopenia

Skin Nails Hair Skin:
eczema (in some patients)
psoriasis (in some patients)

Respiratory Lung:
granulomatous lymphocytic interstitial lung disease

Neurologic Central Nervous System:
lymphocytic infiltration of the brain

Abdomen Liver:
hepatomegaly

Immunology:
lymphadenopathy
recurrent infections (in some patients)
hypogammaglobulinemia
autoantibodies
decreased memory b cells
more
Endocrine Features:
autoimmune thyroiditis

Respiratory:
recurrent upper respiratory infections (in some patients)

Skeletal:
autoimmune arthritis

Clinical features from OMIM:

616100

UMLS symptoms related to Autoimmune Lymphoproliferative Syndrome, Type V:


diarrhea

MGI Mouse Phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type V:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.7 BCL2 BCL6 CD5 CTLA4 FAS SH2D1A
2 immune system MP:0005387 9.5 BCL2 BCL6 CD5 CTLA4 FAS SH2D1A
3 pigmentation MP:0001186 8.92 ALK BCL2 CTLA4 FAS

Drugs & Therapeutics for Autoimmune Lymphoproliferative Syndrome, Type V

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

Genetic Tests for Autoimmune Lymphoproliferative Syndrome, Type V

Genetic tests related to Autoimmune Lymphoproliferative Syndrome, Type V:

# Genetic test Affiliating Genes
1 Autoimmune Lymphoproliferative Syndrome, Type V 30 CTLA4

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type V

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

42
B Cells, T Cells, Lung, Brain, Liver, Bone, Bone Marrow

Publications for Autoimmune Lymphoproliferative Syndrome, Type V

Articles related to Autoimmune Lymphoproliferative Syndrome, Type V:

(show top 50) (show all 1670)
# Title Authors Year
1
Epstein Barr Virus Associated B-Cell Lymphomas and Iatrogenic Lymphoproliferative Disorders. ( 30899698 )
2019
2
Kaposi's sarcoma-associated herpesvirus/human herpesvirus 8 associated lymphoproliferative disorders. ( 30610029 )
2019
3
Hydroa vacciniforme: a distinctive form of Epstein-Barr virus-associated T-cell lymphoproliferative disorders. ( 30998212 )
2019
4
Dermoscopy in lymphoproliferative disorders - experience from a cutaneous lymphoma clinic in a tertiary cancer center. ( 30654076 )
2019
5
The potential usefulness of sputum cytology in the conclusive diagnosis of methotrexate-associated lymphoproliferative disorders: A case report. ( 30886720 )
2019
6
Methotrexate-associated lymphoproliferative disorders of T-cell phenotype: clinicopathological analysis of 28 cases. ( 30952973 )
2019
7
Mycosis Fungoides Associated With Lesions in the Spectrum of Primary Cutaneous CD30+ Lymphoproliferative Disorders: The Same Process or 3 Coexisting Lymphomas? ( 30946099 )
2019
8
HTLV-1 status should be recorded in cases of T cell lymphomas/lymphoproliferative disorders - cases of adult T cell leukaemia lymphoma masquerading as other T cell lymphomas/lymphoproliferative disorders could explain some apparent ethnic disparities. ( 30074238 )
2019
9
HTLV-1 status should be recorded in cases of T cell lymphomas/lymphoproliferative disorders - cases of adult T cell leukaemia lymphoma masquerading as other T cell lymphomas/lymphoproliferative disorders could explain some of the apparent ethnic disparities - response to Lo Bello and Naresh. ( 30074244 )
2019
10
Cutaneous Lymphoproliferative Disorders: What's New in the Revised 4th Edition of the World Health Organization (WHO) Classification of Lymphoid Neoplasms. ( 30199396 )
2019
11
CD30+ T-cell lymphoproliferative disorders. ( 30525751 )
2019
12
A Review of Primary Cutaneous CD30+ Lymphoproliferative Disorders. ( 30497669 )
2019
13
CD30-Positive Lymphoproliferative Disorders. ( 30596222 )
2019
14
EBV+ mucocutaneous ulcers in the setting of pre-existing cutaneous T-cell lymphoproliferative disorders: A report of 2 cases. ( 30581939 )
2019
15
Experiences in the treatment of refractory chylothorax associated with lymphoproliferative disorders. ( 30626415 )
2019
16
Improving CD20 antibody therapy: obinutuzumab in lymphoproliferative disorders. ( 30668192 )
2019
17
The Tumor Microenvironment in Post-Transplant Lymphoproliferative Disorders. ( 30680693 )
2019
18
Serum-free light chains adjusted for renal function are a potential biomarker for post-transplant lymphoproliferative disorders. ( 30680506 )
2019
19
Primary cutaneous CD8+ and CD30+ T-cell lymphoproliferative disorders: case reports and clinical implications. ( 30670369 )
2019
20
The spectrum of CD30+ T cell lymphoproliferative disorders in the skin. ( 30691273 )
2019
21
CD30-positive primary cutaneous lymphoproliferative disorders: molecular alterations and targeted therapies. ( 30630983 )
2019
22
Metagenomic analysis of DNA viruses from posttransplant lymphoproliferative disorders. ( 30697958 )
2019
23
Flow Cytometry Applications in the Diagnosis of T/NK-Cell Lymphoproliferative Disorders. ( 30729667 )
2019
24
The Role and Contribution of Clonality Studies in the Diagnosis of Lymphoproliferative Disorders. ( 30844104 )
2019
25
The Emerging Role of Liquid Biopsies in Lymphoproliferative Disorders. ( 30811017 )
2019
26
Additional considerations related to the elusive boundaries of EBV-associated T/NK-cell lymphoproliferative disorders. ( 30819837 )
2019
27
Rethinking the elusive boundaries of EBV-associated T/NK-cell lymphoproliferative disorders. ( 30819836 )
2019
28
Cancer risk following post-transplant lymphoproliferative disorders in solid organ transplant recipients. ( 30820931 )
2019
29
Automated differential white blood cell count and cytological analysis can detect near-tetraploid cells in chronic lymphoproliferative disorders. ( 30831003 )
2019
30
Ixazomib: an investigational drug for the treatment of lymphoproliferative disorders. ( 30907163 )
2019
31
Clinicopathological Evaluation of PD1/PD-L1 Axis in Post-Transplant Lymphoproliferative Disorders: Association with EBV, PD-L1 Copy Number Alterations and Outcome. ( 30861172 )
2019
32
Methotrexate-associated lymphoproliferative disorders with angioimmunoblastic T-cell lymphoma-like features accompanied by gamma-heavy chain disease in a patient with rheumatoid arthritis. ( 29987858 )
2018
33
Epstein-Barr Virus (EBV)-Related Lymphoproliferative Disorders in Ataxia Telangiectasia: Does ATM Regulate EBV Life Cycle? ( 30662441 )
2018
34
Epstein-Barr Virus-Related Post-Transplant Lymphoproliferative Disorders in Cystic Fibrosis Lung Transplant Recipients: A Case Series. ( 30655153 )
2018
35
Primary Cutaneous CD30+ Lymphoproliferative Disorders in a Patient with Severe Atopic Dermatitis: Is There a Causative Link? ( 28952656 )
2018
36
Post-transplant lymphoproliferative disorders after solid organ and hematopoietic stem cell transplantation. ( 29966464 )
2018
37
Epstein-Barr Virus-Related Post-Transplantation Lymphoproliferative Disorders After Allogeneic Hematopoietic Stem Cell Transplantation. ( 29530767 )
2018
38
Human Herpesvirus 8 and Lymphoproliferative Disorders. ( 30416693 )
2018
39
Lymphoproliferative Disorders in Inflammatory Bowel Disease Patients: Is It the Drugs or the Disease. ( 29998162 )
2018
40
Lymphomatoid granulomatosis and large granular lymphocyte leukemia, a rare association of two lymphoproliferative disorders. ( 29473430 )
2018
41
Utility of CD200 expression and CD20 antibody binding capacity in differentiating chronic lymphocytic leukemia from other chronic lymphoproliferative disorders. ( 29567884 )
2018
42
Kidney Involvement of Patients with Waldenström Macroglobulinemia and Other IgM-Producing B Cell Lymphoproliferative Disorders. ( 29848505 )
2018
43
The prognostic value of positron emission tomography/computed tomography in rheumatoid arthritis patients with methotrexate-associated lymphoproliferative disorders. ( 29713747 )
2018
44
Treatment of advanced stage methotrexate-associated lymphoproliferative disorders (MTX-LPDs) with methotrexate discontinuation. ( 30567235 )
2018
45
NK-Cell Enteropathy and Similar Indolent Lymphoproliferative Disorders: A Case Series With Literature Review. ( 30212873 )
2018
46
Lymphoproliferative disorders with concurrent HHV8 and EBV infection: beyond primary effusion lymphoma and germinotropic lymphoproliferative disorder. ( 29105119 )
2018
47
Nodal Involvement by CD30+ Cutaneous Lymphoproliferative Disorders and Its Challenging Differentiation From Classical Hodgkin Lymphoma. ( 29257929 )
2018
48
Immunodeficiency-associated lymphoproliferative disorders: time for reappraisal? ( 30082493 )
2018
49
Cancer Therapy-associated Lymphoproliferative Disorders: An Under-recognized Type of Immunodeficiency-associated Lymphoproliferative Disorder. ( 29112013 )
2018
50
Immunodeficiency-Associated Lymphoproliferative Disorders. ( 29131000 )
2018

Variations for Autoimmune Lymphoproliferative Syndrome, Type V

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

76
# Symbol AA change Variation ID SNP ID
1 CTLA4 p.Arg70Trp VAR_072681 rs606231422

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

6 (show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTLA4 NM_005214.5(CTLA4): c.151C> T (p.Arg51Ter) single nucleotide variant Pathogenic rs606231417 GRCh38 Chromosome 2, 203870627: 203870627
2 CTLA4 NM_005214.5(CTLA4): c.151C> T (p.Arg51Ter) single nucleotide variant Pathogenic rs606231417 GRCh37 Chromosome 2, 204735350: 204735350
3 CTLA4 NM_005214.4(CTLA4): c.75delG (p.Leu28Phefs) deletion Pathogenic rs606231418 GRCh38 Chromosome 2, 203868017: 203868017
4 CTLA4 NM_005214.4(CTLA4): c.75delG (p.Leu28Phefs) deletion Pathogenic rs606231418 GRCh37 Chromosome 2, 204732740: 204732740
5 CTLA4 NM_005214.5(CTLA4): c.567+5G> C single nucleotide variant Pathogenic rs606231419 GRCh38 Chromosome 2, 203871492: 203871492
6 CTLA4 NM_005214.5(CTLA4): c.567+5G> C single nucleotide variant Pathogenic rs606231419 GRCh37 Chromosome 2, 204736215: 204736215
7 CTLA4 NM_005214.5(CTLA4): c.105C> A (p.Cys35Ter) single nucleotide variant Pathogenic rs606231420 GRCh38 Chromosome 2, 203868047: 203868047
8 CTLA4 NM_005214.5(CTLA4): c.105C> A (p.Cys35Ter) single nucleotide variant Pathogenic rs606231420 GRCh37 Chromosome 2, 204732770: 204732770
9 CTLA4 NM_005214.5(CTLA4): c.109+1G> T single nucleotide variant Pathogenic rs606231421 GRCh38 Chromosome 2, 203868052: 203868052
10 CTLA4 NM_005214.5(CTLA4): c.109+1G> T single nucleotide variant Pathogenic rs606231421 GRCh37 Chromosome 2, 204732775: 204732775
11 CTLA4 NM_005214.5(CTLA4): c.208C> T (p.Arg70Trp) single nucleotide variant Uncertain significance rs606231422 GRCh38 Chromosome 2, 203870684: 203870684
12 CTLA4 NM_005214.5(CTLA4): c.208C> T (p.Arg70Trp) single nucleotide variant Uncertain significance rs606231422 GRCh37 Chromosome 2, 204735407: 204735407
13 CTLA4 NM_005214.5(CTLA4): c.118G> A (p.Val40Met) single nucleotide variant Likely pathogenic rs1553657378 GRCh37 Chromosome 2, 204735317: 204735317
14 CTLA4 NM_005214.5(CTLA4): c.118G> A (p.Val40Met) single nucleotide variant Likely pathogenic rs1553657378 GRCh38 Chromosome 2, 203870594: 203870594
15 CTLA4 NM_005214.5(CTLA4): c.160G> A (p.Ala54Thr) single nucleotide variant Likely pathogenic rs1553657387 GRCh37 Chromosome 2, 204735359: 204735359
16 CTLA4 NM_005214.5(CTLA4): c.160G> A (p.Ala54Thr) single nucleotide variant Likely pathogenic rs1553657387 GRCh38 Chromosome 2, 203870636: 203870636
17 CTLA4 NM_005214.5(CTLA4): c.410C> T (p.Pro137Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1553657429 GRCh37 Chromosome 2, 204735609: 204735609
18 CTLA4 NM_005214.5(CTLA4): c.410C> T (p.Pro137Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs1553657429 GRCh38 Chromosome 2, 203870886: 203870886
19 CTLA4 NM_005214.5(CTLA4): c.420C> A (p.Tyr140Ter) single nucleotide variant Pathogenic rs1357409506 GRCh37 Chromosome 2, 204735619: 204735619
20 CTLA4 NM_005214.5(CTLA4): c.420C> A (p.Tyr140Ter) single nucleotide variant Pathogenic rs1357409506 GRCh38 Chromosome 2, 203870896: 203870896
21 CTLA4 NM_005214.5(CTLA4): c.23G> A (p.Arg8Gln) single nucleotide variant Uncertain significance rs138279736 GRCh38 Chromosome 2, 203867965: 203867965
22 CTLA4 NM_005214.5(CTLA4): c.23G> A (p.Arg8Gln) single nucleotide variant Uncertain significance rs138279736 GRCh37 Chromosome 2, 204732688: 204732688
23 CTLA4 NM_005214.5(CTLA4): c.75G> C (p.Leu25=) single nucleotide variant Benign rs16840275 GRCh38 Chromosome 2, 203868017: 203868017
24 CTLA4 NM_005214.5(CTLA4): c.75G> C (p.Leu25=) single nucleotide variant Benign rs16840275 GRCh37 Chromosome 2, 204732740: 204732740
25 CTLA4 NM_005214.5(CTLA4): c.567+1G> A single nucleotide variant Uncertain significance rs1553657487 GRCh38 Chromosome 2, 203871488: 203871488
26 CTLA4 NM_005214.5(CTLA4): c.567+1G> A single nucleotide variant Uncertain significance rs1553657487 GRCh37 Chromosome 2, 204736211: 204736211
27 CTLA4 NM_005214.5(CTLA4): c.374G> A (p.Gly125Glu) single nucleotide variant Uncertain significance rs1553657428 GRCh37 Chromosome 2, 204735573: 204735573
28 CTLA4 NM_005214.5(CTLA4): c.374G> A (p.Gly125Glu) single nucleotide variant Uncertain significance rs1553657428 GRCh38 Chromosome 2, 203870850: 203870850
29 CTLA4 NM_001037631.3(CTLA4): c.412C> A (p.Pro138Thr) single nucleotide variant Pathogenic rs1553657430 GRCh37 Chromosome 2, 204735611: 204735611
30 CTLA4 NM_001037631.3(CTLA4): c.412C> A (p.Pro138Thr) single nucleotide variant Pathogenic rs1553657430 GRCh38 Chromosome 2, 203870888: 203870888
31 CTLA4 NM_005214.5(CTLA4): c.326G> A (p.Gly109Glu) single nucleotide variant Uncertain significance rs144988077 GRCh37 Chromosome 2, 204735525: 204735525
32 CTLA4 NM_005214.5(CTLA4): c.326G> A (p.Gly109Glu) single nucleotide variant Uncertain significance rs144988077 GRCh38 Chromosome 2, 203870802: 203870802
33 CTLA4 NM_005214.5(CTLA4): c.373G> A (p.Gly125Arg) single nucleotide variant Uncertain significance rs1553657427 GRCh38 Chromosome 2, 203870849: 203870849
34 CTLA4 NM_005214.5(CTLA4): c.373G> A (p.Gly125Arg) single nucleotide variant Uncertain significance rs1553657427 GRCh37 Chromosome 2, 204735572: 204735572
35 CTLA4 NM_005214.5(CTLA4): c.4G> T (p.Ala2Ser) single nucleotide variant Uncertain significance rs767352102 GRCh38 Chromosome 2, 203867946: 203867946
36 CTLA4 NM_005214.5(CTLA4): c.4G> T (p.Ala2Ser) single nucleotide variant Uncertain significance rs767352102 GRCh37 Chromosome 2, 204732669: 204732669
37 CTLA4 NM_005214.5(CTLA4): c.372G> A (p.Thr124=) single nucleotide variant Likely benign rs372929906 GRCh38 Chromosome 2, 203870848: 203870848
38 CTLA4 NM_005214.5(CTLA4): c.372G> A (p.Thr124=) single nucleotide variant Likely benign rs372929906 GRCh37 Chromosome 2, 204735571: 204735571
39 CTLA4 NM_005214.5(CTLA4): c.565A> G (p.Met189Val) single nucleotide variant Uncertain significance rs199912925 GRCh38 Chromosome 2, 203871485: 203871485
40 CTLA4 NM_005214.5(CTLA4): c.565A> G (p.Met189Val) single nucleotide variant Uncertain significance rs199912925 GRCh37 Chromosome 2, 204736208: 204736208
41 CTLA4 NM_005214.5(CTLA4): c.457+4A> G single nucleotide variant Uncertain significance rs1553657438 GRCh37 Chromosome 2, 204735660: 204735660
42 CTLA4 NM_005214.5(CTLA4): c.457+4A> G single nucleotide variant Uncertain significance rs1553657438 GRCh38 Chromosome 2, 203870937: 203870937
43 CTLA4 NM_005214.5(CTLA4): c.110_118del (p.Ala37_His39del) deletion Uncertain significance GRCh37 Chromosome 2, 204735309: 204735317
44 CTLA4 NM_005214.5(CTLA4): c.110_118del (p.Ala37_His39del) deletion Uncertain significance GRCh38 Chromosome 2, 203870586: 203870594
45 CTLA4 NM_005214.5(CTLA4): c.268A> G (p.Met90Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 204735467: 204735467
46 CTLA4 NM_005214.5(CTLA4): c.268A> G (p.Met90Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 203870744: 203870744
47 CTLA4 NM_005214.5(CTLA4): c.422T> C (p.Leu141Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 203870898: 203870898
48 CTLA4 NM_005214.5(CTLA4): c.422T> C (p.Leu141Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 204735621: 204735621
49 CTLA4 NM_005214.5(CTLA4): c.211del (p.Val71Terfs) deletion Pathogenic GRCh37 Chromosome 2, 204735410: 204735410
50 CTLA4 NM_005214.5(CTLA4): c.211del (p.Val71Terfs) deletion Pathogenic GRCh38 Chromosome 2, 203870687: 203870687

Expression for Autoimmune Lymphoproliferative Syndrome, Type V

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

Pathways for Autoimmune Lymphoproliferative Syndrome, Type V

GO Terms for Autoimmune Lymphoproliferative Syndrome, Type V

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

# Name GO ID Score Top Affiliating Genes
1 humoral immune response GO:0006959 9.32 BCL2 SH2D1A
2 T cell costimulation GO:0031295 9.26 CD5 CTLA4
3 regulation of apoptotic process GO:0042981 9.26 ALK BCL2 BCL6 FAS
4 positive regulation of B cell proliferation GO:0030890 9.16 BCL2 BCL6
5 negative regulation of apoptotic process GO:0043066 8.92 BCL2 BCL6 FAS TCL1A

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.02 ALK BCL2 BCL6 FAS TCL1A
2 transmembrane signaling receptor activity GO:0004888 8.96 CD5 FAS

Sources for Autoimmune Lymphoproliferative Syndrome, Type V

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17 EFO
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31 HGMD
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35 ICD10 via Orphanet
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50 NCI
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
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