ALPS5
MCID: ATM082
MIFTS: 62

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 57 29 6 40 73
Lymphoproliferative Disorders 44 73
Alps5 57 75
Chai 57 59
Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency 59
Ctla-4 Haploinsufficiency with Autoimmune Infiltration Disease 59
Ctla4 Haploinsufficiency with Autoimmune Infiltration; Chai 57
Ctla4 Haploinsufficiency with Autoimmune Infiltration 57
Autoimmune Lymphoproliferative Syndrome Type V 75
Autoimmune Lymphoproliferative Syndrome 5 75
Alps Due to Ctla4 Haploinsuffiency 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

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


HPO:

32
autoimmune lymphoproliferative syndrome, type v:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Autoimmune Lymphoproliferative Syndrome, Type V

OMIM : 57 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 lymphoproliferative disorders, is related to lymphoproliferative syndrome and lymphoma, hodgkin, classic, 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 splenomegaly and hepatomegaly

UniProtKB/Swiss-Prot : 75 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
Autoimmune Lymphoproliferative Syndrome Due to Ctla4 Haploinsuffiency Autosomal Recessive Lymphoproliferative Disease

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

(show top 50) (show all 323)
# Related Disease Score Top Affiliating Genes
1 lymphoproliferative syndrome 32.8 CTLA4 FAS SH2D1A
2 lymphoma, hodgkin, classic 30.5 ALK BCL6 CD5
3 primary cutaneous anaplastic large cell lymphoma 30.3 ALK TIA1
4 lymphoma 30.3 ALK BCL2 BCL6 SH2D1A TCL1A
5 human herpesvirus 8 30.3 BCL2 BCL6
6 lymphomatoid papulosis 30.2 ALK FAS TIA1
7 angioimmunoblastic t-cell lymphoma 30.2 BCL6 TIA1
8 mantle cell lymphoma 30.2 BCL2 BCL6 CD5
9 aplastic anemia 30.1 FAS SH2D1A TRB
10 marginal zone b-cell lymphoma 30.1 BCL2 BCL6 CD5
11 hemophagocytic lymphohistiocytosis 29.9 CD5 CTLA4 FAS SH2D1A
12 type ii mixed cryoglobulinemia 29.9 CD5 FAS
13 primary central nervous system lymphoma 29.9 BCL2 BCL6
14 primary effusion lymphoma 29.8 BCL6 TCL1A
15 common variable immunodeficiency 29.8 CTLA4 FAS SH2D1A
16 composite lymphoma 29.7 BCL6 CD5 TIA1
17 leukemia, chronic lymphocytic 29.6 BCL2 BCL6 CD5 FAS TCL1A
18 splenic marginal zone lymphoma 29.6 BCL6 CD5
19 lymphosarcoma 29.5 BCL6 CD5 SH2D1A
20 lymphoma, mucosa-associated lymphoid type 29.5 BCL2 BCL6 CD5
21 b-cell lymphomas 29.4 BCL2 BCL6 CD5 FAS TCL1A TIA1
22 prolymphocytic leukemia 29.4 CD5 TCL1A
23 peripheral t-cell lymphoma 29.4 ALK BCL6 CD5 TCL1A TIA1
24 burkitt lymphoma 29.2 BCL2 BCL6 FAS SH2D1A TCL1A
25 lymphoma, non-hodgkin, familial 28.3 ALK BCL2 BCL6 CD5 FAS SH2D1A
26 methotrexate-associated lymphoproliferative disorders 12.3
27 chronic lymphoproliferative disorder of natural killer cells 12.1
28 post-transplant lymphoproliferative disease 11.9
29 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency 11.6
30 chronic nk-cell lymphocytosis 11.4
31 lymphoid interstitial pneumonia 11.4
32 necrobiotic xanthogranuloma 11.4
33 lymphomatoid granulomatosis 11.3
34 waldenstrom macroglobulinemia 11.3
35 acquired angioedema 11.3
36 granulomatous slack skin disease 11.3
37 autoimmune lymphoproliferative syndrome 11.2
38 t-cell large granular lymphocyte leukemia 11.2
39 castleman disease 11.2
40 pityriasis lichenoides 11.2
41 lymphoproliferative syndrome, x-linked, 1 11.1
42 lymphoproliferative syndrome 2 11.1
43 lymphoid leukemia 10.9
44 acquired von willebrand syndrome 10.9
45 pityriasis lichenoides et varioliformis acuta 10.9
46 hepatitis 10.5
47 leukemia 10.5
48 hepatitis c 10.5
49 arthritis 10.5
50 rheumatoid arthritis 10.4

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Autoimmune Lymphoproliferative Syndrome, Type V:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 recurrent upper respiratory tract infections 32 occasional (7.5%) HP:0002788
4 decreased antibody level in blood 32 HP:0004313
5 lymphopenia 32 HP:0001888
6 diarrhea 32 HP:0002014
7 eczema 32 occasional (7.5%) HP:0000964
8 lymphadenopathy 32 HP:0002716
9 autoimmune hemolytic anemia 32 HP:0001890
10 autoimmune thrombocytopenia 32 HP:0001973
11 psoriasiform dermatitis 32 occasional (7.5%) HP:0003765

UMLS symptoms related to Autoimmune Lymphoproliferative Syndrome, Type V:


diarrhea

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

46
# 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

Cochrane evidence based reviews: lymphoproliferative disorders

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 29 CTLA4

Anatomical Context for Autoimmune Lymphoproliferative Syndrome, Type V

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

41
B Cells, T Cells, Lung, Brain, Kidney, Liver, Bone

Publications for Autoimmune Lymphoproliferative Syndrome, Type V

Articles related to Autoimmune Lymphoproliferative Syndrome, Type V:

(show top 50) (show all 1087)
# Title Authors Year
1
A Review of Primary Cutaneous CD30+ Lymphoproliferative Disorders. ( 30497669 )
2019
2
Lymphomatoid granulomatosis and large granular lymphocyte leukemia, a rare association of two lymphoproliferative disorders. ( 29473430 )
2018
3
The prognostic value of positron emission tomography/computed tomography in rheumatoid arthritis patients with methotrexate-associated lymphoproliferative disorders. ( 29713747 )
2018
4
Kidney Involvement of Patients with WaldenstrAPm Macroglobulinemia and Other IgM-Producing B Cell Lymphoproliferative Disorders. ( 29848505 )
2018
5
Post-transplant lymphoproliferative disorders after solid organ and hematopoietic stem cell transplantation. ( 29966464 )
2018
6
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
7
Epstein-Barr Virus-Related Post-Transplantation Lymphoproliferative Disorders After Allogeneic Hematopoietic Stem Cell Transplantation. ( 29530767 )
2018
8
Human Herpesvirus 8 and Lymphoproliferative Disorders. ( 30416693 )
2018
9
Lymphoproliferative Disorders in Inflammatory Bowel Disease Patients: Is It the Drugs or the Disease. ( 29998162 )
2018
10
Utility of CD200 expression and CD20 antibody binding capacity in differentiating chronic lymphocytic leukemia from other chronic lymphoproliferative disorders. ( 29567884 )
2018
11
NK-Cell Enteropathy and Similar Indolent Lymphoproliferative Disorders: A Case Series With Literature Review. ( 30212873 )
2018
12
Nodal Involvement by CD30+ Cutaneous Lymphoproliferative Disorders and Its Challenging Differentiation From Classical Hodgkin Lymphoma. ( 29257929 )
2018
13
Immunodeficiency-associated lymphoproliferative disorders: time for reappraisal? ( 30082493 )
2018
14
Retraction: Haploinsufficiency of the Hmga1 Gene Causes Cardiac Hypertrophy and Myelo-Lymphoproliferative Disorders in Mice. ( 30552126 )
2018
15
Methotrexate-induced lymphoproliferative disorders: regression matters. ( 29468914 )
2018
16
FDG PET/CT Findings of Polymorphic Posttransplant Lymphoproliferative Disorders in a Transplanted Kidney. ( 29485445 )
2018
17
SATB1 Defines a Subtype of Cutaneous CD30+ Lymphoproliferative Disorders Associated with a T-Helper 17 Cytokine Profile. ( 29510190 )
2018
18
Low 5-year cumulative incidence of post-transplant lymphoproliferative disorders after solid organ transplantation in Switzerland. ( 29518251 )
2018
19
Reexamining post-transplant lymphoproliferative disorders: Newly recognized and enigmatic types. ( 29615296 )
2018
20
Restoration of Decreased T Helper 1 and CD8+ T Cell Subsets Is Associated With Regression of Lymphoproliferative Disorders Developed During Methotrexate Treatment. ( 29670617 )
2018
21
Ethnic disparity in primary cutaneous CD30+ T-cell lymphoproliferative disorders: an analysis of 1496 cases from the US National Cancer Database. ( 29676444 )
2018
22
Ethnic disparity in primary cutaneous CD30+ T-cell lymphoproliferative disorders: an analysis of 1496 cases from the US National Cancer database. ( 29676455 )
2018
23
Droplet Digital PCR for Minimal Residual Disease Detection in Mature Lymphoproliferative Disorders. ( 29717447 )
2018
24
Cutaneous CD30-positive T-cell lymphoproliferative disorders-clinical and histopathologic features, differential diagnosis, and treatment. ( 29719017 )
2018
25
Management of post-transplant lymphoproliferative disorders. ( 29741774 )
2018
26
Maximising yield of peripheral blood flow cytometry for chronic lymphoproliferative disorders. ( 29790655 )
2018
27
The value of EBV DNA in early detection of post-transplant lymphoproliferative disorders among solid organ and hematopoietic stem cell transplant recipients. ( 29804164 )
2018
28
T-cell receptor-δ expression and γδ+ T-cell infiltrates in primary cutaneous γδ T-cell lymphoma and other cutaneous T-cell lymphoproliferative disorders. ( 29893430 )
2018
29
Characteristic Histological Findings of Asymptomatic EBV-associated Lymphoproliferative Disorders in Tonsils. ( 30012922 )
2018
30
Dermoscopy of Cutaneous Lymphoproliferative Disorders: Where Are We Now? ( 30032152 )
2018
31
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 )
2018
32
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 )
2018
33
Cutaneous Lymphoproliferative Disorders: What's New in the Revised 4th Edition of the World Health Organization (WHO) Classification of Lymphoid Neoplasms. ( 30199396 )
2018
34
Peripheral Nervous System Involvement in Lymphoproliferative Disorders. ( 30210750 )
2018
35
The Potential Role of a Soluble γ-Chain Cytokine Receptor as a Regulator of IL-7-Induced Lymphoproliferative Disorders. ( 30373315 )
2018
36
Invasive Fungal Infections in Patients with Chronic Lymphoproliferative Disorders in the Era of Target Drugs. ( 30416695 )
2018
37
CD30+ T-cell lymphoproliferative disorders. ( 30525751 )
2018
38
Stoma formation after lymphoproliferative disorders and immunosuppression therapy. ( 30525969 )
2018
39
Epstein-Barr viremia and post-transplant lymphoproliferative disorders in patients undergoing haploidentical stem cell transplantation with post-transplant cyclophosphamide. ( 30543769 )
2018
40
Characteristics of Lymphoproliferative Disorders with More Than One Aberrant Cell Population as Detected by 10-Color Flow Cytometry. ( 27438095 )
2018
41
EBV-induced lymphoproliferative disorders in rheumatic patients: A systematic review of the literature. ( 28196776 )
2018
42
Spectrum and immunophenotyping of 653 patients with B-cell chronic lymphoproliferative disorders in China: A single-centre analysis. ( 28752619 )
2018
43
Lymphoproliferative disorders in patients with rheumatoid arthritis in the era of widespread use of methotrexate: A review of the literature and current perspective. ( 28758827 )
2018
44
Lymphoproliferative Disorders of the Gastrointestinal Tract. ( 28829152 )
2018
45
Usefulness of the lymphocyte positional parameters in the Sysmex XN haematology analyser in lymphoproliferative disorders and mononucleosis syndrome. ( 28868635 )
2018
46
Clinicopathologic investigation of methotrexate-induced lymphoproliferative disorders, with a focus on regression. ( 28877615 )
2018
47
Dynamic contrast-enhanced MRI in orbital lymphoproliferative disorders: Effects of region of interest selection methods on time efficiency, measurement reproducibility, and diagnostic ability. ( 28922524 )
2018
48
Views of dermatopathologists about clonality assays in the diagnosis of cutaneous T-cell and B-cell lymphoproliferative disorders. ( 29084365 )
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:

75
# 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_005214.4(CTLA4): c.151C> T (p.Arg51Ter) single nucleotide variant Pathogenic rs606231417 GRCh38 Chromosome 2, 203870627: 203870627
2 CTLA4 NM_005214.4(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_005214.4(CTLA4): c.567+5G> C single nucleotide variant Pathogenic rs606231419 GRCh38 Chromosome 2, 203871492: 203871492
6 CTLA4 NM_005214.4(CTLA4): c.567+5G> C single nucleotide variant Pathogenic rs606231419 GRCh37 Chromosome 2, 204736215: 204736215
7 CTLA4 NM_005214.4(CTLA4): c.105C> A (p.Cys35Ter) single nucleotide variant Pathogenic rs606231420 GRCh38 Chromosome 2, 203868047: 203868047
8 CTLA4 NM_005214.4(CTLA4): c.105C> A (p.Cys35Ter) single nucleotide variant Pathogenic rs606231420 GRCh37 Chromosome 2, 204732770: 204732770
9 CTLA4 NM_005214.4(CTLA4): c.109+1G> T single nucleotide variant Pathogenic rs606231421 GRCh38 Chromosome 2, 203868052: 203868052
10 CTLA4 NM_005214.4(CTLA4): c.109+1G> T single nucleotide variant Pathogenic rs606231421 GRCh37 Chromosome 2, 204732775: 204732775
11 CTLA4 NM_005214.4(CTLA4): c.208C> T (p.Arg70Trp) single nucleotide variant Uncertain significance rs606231422 GRCh38 Chromosome 2, 203870684: 203870684
12 CTLA4 NM_005214.4(CTLA4): c.208C> T (p.Arg70Trp) single nucleotide variant Uncertain significance rs606231422 GRCh37 Chromosome 2, 204735407: 204735407
13 CTLA4 NM_005214.4(CTLA4): c.118G> A (p.Val40Met) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 204735317: 204735317
14 CTLA4 NM_005214.4(CTLA4): c.118G> A (p.Val40Met) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 203870594: 203870594
15 CTLA4 NM_005214.4(CTLA4): c.160G> A (p.Ala54Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 204735359: 204735359
16 CTLA4 NM_005214.4(CTLA4): c.160G> A (p.Ala54Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 203870636: 203870636
17 CTLA4 NM_005214.4(CTLA4): c.410C> T (p.Pro137Leu) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 2, 203870886: 203870886
18 CTLA4 NM_005214.4(CTLA4): c.410C> T (p.Pro137Leu) single nucleotide variant Conflicting interpretations of pathogenicity GRCh37 Chromosome 2, 204735609: 204735609
19 CTLA4 NM_005214.4(CTLA4): c.420C> A (p.Tyr140Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 204735619: 204735619
20 CTLA4 NM_005214.4(CTLA4): c.420C> A (p.Tyr140Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 203870896: 203870896
21 CTLA4 NM_005214.4(CTLA4): c.23G> A (p.Arg8Gln) single nucleotide variant Uncertain significance rs138279736 GRCh37 Chromosome 2, 204732688: 204732688
22 CTLA4 NM_005214.4(CTLA4): c.23G> A (p.Arg8Gln) single nucleotide variant Uncertain significance rs138279736 GRCh38 Chromosome 2, 203867965: 203867965
23 CTLA4 NM_005214.4(CTLA4): c.75G> C (p.Leu25=) single nucleotide variant Benign rs16840275 GRCh37 Chromosome 2, 204732740: 204732740
24 CTLA4 NM_005214.4(CTLA4): c.75G> C (p.Leu25=) single nucleotide variant Benign rs16840275 GRCh38 Chromosome 2, 203868017: 203868017
25 CTLA4 NM_005214.4(CTLA4): c.567+1G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 204736211: 204736211
26 CTLA4 NM_005214.4(CTLA4): c.567+1G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 203871488: 203871488
27 CTLA4 NM_005214.4(CTLA4): c.374G> A (p.Gly125Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 204735573: 204735573
28 CTLA4 NM_005214.4(CTLA4): c.374G> A (p.Gly125Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 203870850: 203870850
29 CTLA4 NM_001037631.2(CTLA4): c.412C> A (p.Pro138Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 2, 204735611: 204735611
30 CTLA4 NM_001037631.2(CTLA4): c.412C> A (p.Pro138Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 2, 203870888: 203870888
31 CTLA4 NM_005214.4(CTLA4): c.326G> A (p.Gly109Glu) single nucleotide variant Uncertain significance rs144988077 GRCh38 Chromosome 2, 203870802: 203870802
32 CTLA4 NM_005214.4(CTLA4): c.326G> A (p.Gly109Glu) single nucleotide variant Uncertain significance rs144988077 GRCh37 Chromosome 2, 204735525: 204735525
33 CTLA4 NM_005214.4(CTLA4): c.373G> A (p.Gly125Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 203870849: 203870849
34 CTLA4 NM_005214.4(CTLA4): c.373G> A (p.Gly125Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 204735572: 204735572
35 CTLA4 NM_005214.4(CTLA4): c.4G> T (p.Ala2Ser) single nucleotide variant Uncertain significance rs767352102 GRCh38 Chromosome 2, 203867946: 203867946
36 CTLA4 NM_005214.4(CTLA4): c.4G> T (p.Ala2Ser) single nucleotide variant Uncertain significance rs767352102 GRCh37 Chromosome 2, 204732669: 204732669
37 CTLA4 NM_005214.4(CTLA4): c.372G> A (p.Thr124=) single nucleotide variant Likely benign rs372929906 GRCh38 Chromosome 2, 203870848: 203870848
38 CTLA4 NM_005214.4(CTLA4): c.372G> A (p.Thr124=) single nucleotide variant Likely benign rs372929906 GRCh37 Chromosome 2, 204735571: 204735571
39 CTLA4 NM_005214.4(CTLA4): c.565A> G (p.Met189Val) single nucleotide variant Uncertain significance rs199912925 GRCh38 Chromosome 2, 203871485: 203871485
40 CTLA4 NM_005214.4(CTLA4): c.565A> G (p.Met189Val) single nucleotide variant Uncertain significance rs199912925 GRCh37 Chromosome 2, 204736208: 204736208
41 CTLA4 NM_005214.4(CTLA4): c.457+4A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 203870937: 203870937
42 CTLA4 NM_005214.4(CTLA4): c.457+4A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 204735660: 204735660
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 rs370443546 GRCh37 Chromosome 2, 204735467: 204735467
46 CTLA4 NM_005214.5(CTLA4): c.268A> G (p.Met90Val) single nucleotide variant Uncertain significance rs370443546 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 T cell costimulation GO:0031295 9.26 CD5 CTLA4
2 regulation of apoptotic process GO:0042981 9.26 ALK BCL2 BCL6 FAS
3 positive regulation of B cell proliferation GO:0030890 9.16 BCL2 BCL6
4 negative regulation of apoptotic process GO:0043066 9.02 ALK 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 transmembrane signaling receptor activity GO:0004888 9.13 ALK CD5 FAS
2 identical protein binding GO:0042802 9.02 ALK BCL2 BCL6 FAS TCL1A

Sources for Autoimmune Lymphoproliferative Syndrome, Type V

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