MCID: ATM082
MIFTS: 41

Autoimmune Lymphoproliferative Syndrome, Type V

Categories: Genetic diseases, Gastrointestinal diseases, Blood diseases, Rare diseases, Immune 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 methotrexate-associated lymphoproliferative disorders and lymphoproliferative syndrome, and has symptoms including diarrhea An important gene associated with Autoimmune Lymphoproliferative Syndrome, Type V is CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4). 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 216)
# Related Disease Score Top Affiliating Genes
1 methotrexate-associated lymphoproliferative disorders 12.1
2 lymphoproliferative syndrome 11.5
3 post-transplant lymphoproliferative disease 11.5
4 autoimmune lymphoproliferative syndrome due to ctla4 haploinsuffiency 11.5
5 necrobiotic xanthogranuloma 11.2
6 lymphomatoid granulomatosis 11.1
7 t-cell large granular lymphocyte leukemia 11.1
8 waldenstrom macroglobulinemia 11.1
9 acquired angioedema 11.1
10 granulomatous slack skin disease 11.1
11 autoimmune lymphoproliferative syndrome 11.1
12 pityriasis lichenoides 11.1
13 lymphoproliferative syndrome, x-linked, 1 10.9
14 chronic nk-cell lymphocytosis 10.9
15 lymphoproliferative syndrome 2 10.9
16 lymphoid leukemia 10.8
17 acquired von willebrand syndrome 10.8
18 castleman disease 10.8
19 pityriasis lichenoides et varioliformis acuta 10.8
20 lymphoma 10.5
21 leukemia 10.3
22 rheumatoid arthritis 10.2
23 arthritis 10.2
24 anaplastic large cell lymphoma 10.2
25 plasmacytoma 10.2
26 lymphomatoid papulosis 10.1
27 leukemia, chronic lymphocytic 2 10.1
28 leukemia, chronic lymphocytic 10.1
29 b-cell lymphomas 10.1
30 leukemia, b-cell, chronic 10.1
31 lymphoma, hodgkin, classic 10.1
32 hepatitis 10.1
33 hairy cell leukemia 10.1
34 diffuse large b-cell lymphoma 10.0
35 hematopoietic stem cell transplantation 10.0
36 angioimmunoblastic t-cell lymphoma 10.0
37 cryoglobulinemia 10.0
38 cryoglobulinemia, familial mixed 10.0
39 aplastic anemia 10.0
40 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.0
41 pure red-cell aplasia 10.0
42 hepatitis c 10.0
43 chronic active epstein-barr virus infection 10.0
44 primary cutaneous anaplastic large cell lymphoma 10.0
45 anemia, autoimmune hemolytic 9.9
46 mycosis fungoides 9.9
47 hepatitis c virus 9.9
48 hemolytic anemia 9.9
49 hemophagocytic lymphohistiocytosis 9.9
50 mantle cell lymphoma 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

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
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 10)
# 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 diarrhea 32 HP:0002014
6 eczema 32 occasional (7.5%) HP:0000964
7 lymphadenopathy 32 HP:0002716
8 autoimmune hemolytic anemia 32 HP:0001890
9 autoimmune thrombocytopenia 32 HP:0001973
10 psoriasiform dermatitis 32 occasional (7.5%) HP:0003765

UMLS symptoms related to Autoimmune Lymphoproliferative Syndrome, Type V:


diarrhea

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, Liver, Skin, Bone

Publications for Autoimmune Lymphoproliferative Syndrome, Type V

Articles related to Autoimmune Lymphoproliferative Syndrome, Type V:

(show top 50) (show all 523)
# Title Authors Year
1
Epstein-Barr Virus (EBV)-induced B-cell Lymphoproliferative Disorder Mimicking the Recurrence of EBV-associated Hemophagocytic Lymphohistiocytosis. ( 29324572 )
2018
2
Hydroa vacciniforme-like lymphoproliferative disorder in an elderly Chinese patient and a literature review of adult cases. ( 29926891 )
2018
3
Lymphomatoid granulomatosis and large granular lymphocyte leukemia, a rare association of two lymphoproliferative disorders. ( 29473430 )
2018
4
The prognostic value of positron emission tomography/computed tomography in rheumatoid arthritis patients with methotrexate-associated lymphoproliferative disorders. ( 29713747 )
2018
5
Progressive Multifocal Leukoencephalopathy Following Combined Rituximab-Based Immune-Chemotherapy for Post-transplant Lymphoproliferative Disorder in a Renal Transplant Recipient: AA CaseA Report. ( 29661457 )
2018
6
Kidney Involvement of Patients with WaldenstrAPm Macroglobulinemia and Other IgM-Producing B Cell Lymphoproliferative Disorders. ( 29848505 )
2018
7
Posttransplant Lymphoproliferative Disorder Presenting as Testicular Lymphoma in a Kidney Transplant Recipient: A Case Report and Review of the Literature. ( 29666729 )
2018
8
Methotrexate-associated lymphoproliferative disorder complicated by severe acute respiratory failure and ileal perforation: a case report. ( 29925726 )
2018
9
Epstein-Barr Virus-Associated Nodal Marginal Zone Lymphoma: Part of the Spectrum of Posttransplant Lymphoproliferative Disorder? ( 29944019 )
2018
10
Mycosis fungoides - A cutaneous lymphoproliferative disorder in a patient treated with fingolimod for multiple sclerosis. ( 29108666 )
2018
11
EBV-positive nodal low-grade B-cell lymphoma with BCL3, IgA and IRTA1 expression: Is this a polymorphic lymphoproliferative disorder or an EBV-positive nodal marginal zone lymphoma? ( 29920862 )
2018
12
Post-transplant lymphoproliferative disorders after solid organ and hematopoietic stem cell transplantation. ( 29966464 )
2018
13
Classical Hodgkin lymphoma-type and monomorphic-type post-transplant lymphoproliferative disorder following liver transplantation: a case report. ( 29980871 )
2018
14
Epstein-Barr Virus-associated Lymphoproliferative Disorder with Encephalitis Following Anti-thymocyte Globulin for Aplastic Anemia Resolved with Rituximab Therapy: A Case Report and Literature Review. ( 28321074 )
2017
15
Composite Cutaneous Lymphoma (Iatrogenic Immunodeficiency-Associated Lymphoproliferative Disorder) in a Patient with Rheumatoid Arthritis Treated with Methotrexate: Staging and Evaluation of Response to Therapy with<sup>18</sup>F-FDG PET/CT. ( 28878854 )
2017
16
A case report of proliferative glomerulonephritis with monoclonal immunoglobulin M-kappa deposits without associated lymphoproliferative disorder or detectable paraproteinemia. ( 29230710 )
2017
17
Post-transplant Lymphoproliferative Disorder Presented in a Form of Primary Effusion Lymphoma with t (8; 14). ( 28667038 )
2017
18
Clinicopathological analysis of methotrexate-associated lymphoproliferative disorders: Comparison of diffuse large B-cell lymphoma and classical Hodgkin lymphoma types. ( 28380678 )
2017
19
Obinutuzumab for the treatment of chronic lymphocytic leukemia and other B-cell lymphoproliferative disorders. ( 28893099 )
2017
20
Clinical characteristics of methotrexate-associated lymphoproliferative disorders: relationship between absolute lymphocyte count recovery and spontaneous regression. ( 28676912 )
2017
21
Methotrexate-associated lymphoproliferative disorder in a patient with neuromyelitis optica spectrum disorder: An implication for pathogenesis mediated by Epstein-Barr virus. ( 28716244 )
2017
22
FOXP1 is a regulator of quiescence in healthy human CD4(+) T cells and is constitutively repressed in T cells from patients with lymphoproliferative disorders. ( 27861791 )
2017
23
Diagnosis and treatment of neoplastic post-transplant lymphoproliferative disorder following hematopoietic stem cell transplant in I^-thalassemia: A pediatric case report. ( 29384898 )
2017
24
Other Iatrogenic Immunodeficiency-associated Lymphoproliferative Disorder, Hodgkin type, following Epstein-Barr Viral Hepatitis in a Patient with Rheumatoid Arthritis. ( 29279493 )
2017
25
CD30 Expression in Monomorphic Posttransplant Lymphoproliferative Disorder, Diffuse Large B-Cell Lymphoma Correlates With Greater Regulatory T-Cell Infiltration. ( 29126177 )
2017
26
B-cell posttransplant lymphoproliferative disorder isolated to the central nervous system is Epstein-Barr virus positive and lacks p53 and Myc expression by immunohistochemistry. ( 27993575 )
2017
27
A distinct subtype of Epstein Barr virus positive T/NK-cell lymphoproliferative disorder: Adult patients with chronic active Epstein Barr virus infection-like features. ( 29242302 )
2017
28
Primary Cutaneous CD30+ Lymphoproliferative Disorders in a Patient with Severe Atopic Dermatitis: Is There a Causative Link? ( 28952656 )
2017
29
Polymorphic lymphoproliferative disorders in patients with rheumatoid arthritis are associated with a better clinical outcome. ( 29057700 )
2017
30
Lymphoproliferative disorders with concurrent HHV8 and EBV infection: beyond primary effusion lymphoma and germinotropic lymphoproliferative disorder. ( 29105119 )
2017
31
Autoimmune Lymphoproliferative Syndrome Masquerading as Posttransplant Lymphoproliferative Disorder. ( 28991130 )
2017
32
Array-CGH predicts prognosis in plasma cell post-transplantation lymphoproliferative disorders. ( 27750397 )
2017
33
Peripheral T-Cell Lymphoma: A Posttransplant Lymphoproliferative Disorder Presenting as a Jejunal Mass in a Renal Transplant Recipient. ( 27915968 )
2016
34
Plasmablastic plasmacytoma-like post-transplant lymphoproliferative disorder in an orthotopic liver transplant. ( 27133968 )
2016
35
Sinusoidal CD30+ diffuse large B-cell lymphoma can masquerade as anaplastic large cell lymphoma in pediatric posttransplant lymphoproliferative disorders. ( 28035754 )
2016
36
Three Rwandan Children With Massive Splenomegaly and Epstein-Barr Virus-associated Lymphoproliferative Disorders: Case Presentations and the Literature Review. ( 27352192 )
2016
37
PAX5 interacts with RIP2 to promote NF-I_B activation and drug-resistance in B-lymphoproliferative disorders. ( 27122187 )
2016
38
Prognostic factors of methotrexate-associated lymphoproliferative disorders associated with rheumatoid arthritis and plausible application of biological agents. ( 27846761 )
2016
39
No TP63 rearrangements in a selected group of primary cutaneous CD30+ lymphoproliferative disorders with aggressive clinical course. ( 27146432 )
2016
40
[Monomorphic post-transplant T-lymphoproliferative disorder after autologous stem cell transplantation for multiple myeloma]. ( 26861102 )
2016
41
Other Iatrogenic Immunodeficiency-associated Lymphoproliferative Disorder Presenting as Primary Bone Lymphoma in a Patient with Rheumatoid Arthritis. ( 27523005 )
2016
42
A Primary Cutaneous CD30-Positive T-Cell Lymphoproliferative Disorder Arising in a Patient With Multiple Myeloma and Cutaneous Amyloidosis. ( 26981738 )
2016
43
Interferon-free antiviral treatment in B-cell lymphoproliferative disorders associated with hepatitis C virus infection. ( 27605512 )
2016
44
Association between HLA-A1 and -A2 types and Epstein-Barr virus status of post-transplant lymphoproliferative disorder. ( 27104753 )
2016
45
Posttransplant Lymphoproliferative Disorder Manifesting as Intestinal Epstein-Barr Virus-Positive Anaplastic Large-Cell Lymphoma in an Adult Renal Transplant Recipient. ( 27805515 )
2016
46
Membranoproliferative Glomerulonephritis Secondary to a Low-Grade Lymphoproliferative Disorder: A Rare Cause of Renal Dysfunction. ( 27812262 )
2016
47
Allogeneic hematopoietic stem cell transplantation in patients with advanced indolent lymphoproliferative disorders. ( 27208567 )
2016
48
Post-Transplant Lymphoproliferative Disorder Presenting as CD20-Negative Plasmablastic Lymphoma in the Lung. ( 27746876 )
2016
49
Methotrexate-related lymphoproliferative disorder of the stomach in a patient with rheumatoid arthritis: a case of disease regression after methotrexate cessation. ( 26733461 )
2016
50
Recipient-derived EBV-positive Monomorphic Plasmacytoma Type Posttransplant Lymphoproliferative Disorder After Allogeneic Stem Cell Transplant for Severe Aplastic Anemia: A Case Report. ( 27403771 )
2016

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 all 42)
# 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 Pathogenic rs606231422 GRCh38 Chromosome 2, 203870684: 203870684
12 CTLA4 NM_005214.4(CTLA4): c.208C> T (p.Arg70Trp) single nucleotide variant Pathogenic 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 GRCh37 Chromosome 2, 204735609: 204735609
18 CTLA4 NM_005214.4(CTLA4): c.410C> T (p.Pro137Leu) single nucleotide variant Conflicting interpretations of pathogenicity GRCh38 Chromosome 2, 203870886: 203870886
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 GRCh38 Chromosome 2, 203871488: 203871488
26 CTLA4 NM_005214.4(CTLA4): c.567+1G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 204736211: 204736211
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 GRCh37 Chromosome 2, 204735525: 204735525
32 CTLA4 NM_005214.4(CTLA4): c.326G> A (p.Gly109Glu) single nucleotide variant Uncertain significance rs144988077 GRCh38 Chromosome 2, 203870802: 203870802
33 CTLA4 NM_005214.4(CTLA4): c.373G> A (p.Gly125Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 204735572: 204735572
34 CTLA4 NM_005214.4(CTLA4): c.373G> A (p.Gly125Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 203870849: 203870849
35 CTLA4 NM_005214.4(CTLA4): c.4G> T (p.Ala2Ser) single nucleotide variant Uncertain significance rs767352102 GRCh37 Chromosome 2, 204732669: 204732669
36 CTLA4 NM_005214.4(CTLA4): c.4G> T (p.Ala2Ser) single nucleotide variant Uncertain significance rs767352102 GRCh38 Chromosome 2, 203867946: 203867946
37 CTLA4 NM_005214.4(CTLA4): c.372G> A (p.Thr124=) single nucleotide variant Likely benign rs372929906 GRCh37 Chromosome 2, 204735571: 204735571
38 CTLA4 NM_005214.4(CTLA4): c.372G> A (p.Thr124=) single nucleotide variant Likely benign rs372929906 GRCh38 Chromosome 2, 203870848: 203870848
39 CTLA4 NM_005214.4(CTLA4): c.565A> G (p.Met189Val) single nucleotide variant Uncertain significance rs199912925 GRCh37 Chromosome 2, 204736208: 204736208
40 CTLA4 NM_005214.4(CTLA4): c.565A> G (p.Met189Val) single nucleotide variant Uncertain significance rs199912925 GRCh38 Chromosome 2, 203871485: 203871485
41 CTLA4 NM_005214.4(CTLA4): c.457+4A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 204735660: 204735660
42 CTLA4 NM_005214.4(CTLA4): c.457+4A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 203870937: 203870937

Expression for Autoimmune Lymphoproliferative Syndrome, Type V

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Pathways for Autoimmune Lymphoproliferative Syndrome, Type V

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