XLA
MCID: AGM005
MIFTS: 57

Agammaglobulinemia, X-Linked 1 (XLA) malady

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

Aliases & Classifications for Agammaglobulinemia, X-Linked 1

Aliases & Descriptions for Agammaglobulinemia, X-Linked 1:

Name: Agammaglobulinemia, X-Linked 1 54 13
X-Linked Agammaglobulinemia 12 23 50 24 25 56 66 29 52 69
Xla 23 50 24 25 66
Bruton's Agammaglobulinemia 23 50 24 25
Bruton Type Agammaglobulinemia 50 56 42
X-Linked Agammaglobulinemia Type 1 66 29
Bruton-Type Agammaglobulinemia 12 14
Hypogammaglobulinemia 25 69
Agammaglobulinemia 25 69
Btk-Deficiency 50 56
Bruton Agammaglobulinemia Tyrosine Kinase Deficiency 12
Agammaglobulinemia, Bruton Tyrosine Kinase 50
Bruton Agammaglobulinemia Tyrosine Kinase 13
Bruton's Sex-Linked Agammaglobulinemia 12
Bruton's Type Agammaglobulinemia 12
Congenital Agammaglobulinemia 25
Bruton's Agammaglobulinaemia 12
Agammaglobulinemia, Btk 50
Immunodeficiency Type 1 66
Btk Deficiency 12
Agmx1 66
Imd1 66

Characteristics:

Orphanet epidemiological data:

56
x-linked agammaglobulinemia
Inheritance: Not applicable,X-linked recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (France),1-9/1000000 (Italy); Age of onset: Childhood; Age of death: normal life expectancy;

HPO:

32
agammaglobulinemia, x-linked 1:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 300755
Disease Ontology 12 DOID:14179
MeSH 42 C537409
NCIt 47 C3822
Orphanet 56 ORPHA47
MESH via Orphanet 43 C537409
UMLS via Orphanet 70 C0221026
ICD10 via Orphanet 34 D80.0
UMLS 69 C0221026

Summaries for Agammaglobulinemia, X-Linked 1

NIH Rare Diseases : 50 x-linked agammaglobulinema is a primary immunodeficiency characterized by very low levels of immunoglobulins (proteins made by the immune system to help fight infections). people affected by this condition generally begin developing frequent and recurrent bacterial infections from about 6 months of age. commonly diagnosed infections include lung infections (pneumonia and bronchitis), middle ear infections, conjunctivitis, sinus infections, various skin infections, and infections that are associated with chronic diarrhea. x-linked agammaglobulinemia is caused by changes (mutations) in the btk gene and is inherited in an x-linked recessive manner. treatment aims to boost the immune system, which may be accomplished by administering immunoglobulins through a vein (ivig) or subcutaneously (scig). frequent infections are generally treated with antibiotics. last updated: 4/14/2016

MalaCards based summary : Agammaglobulinemia, X-Linked 1, also known as x-linked agammaglobulinemia, is related to agammaglobulinemia 1 and transient hypogammaglobulinemia of infancy, and has symptoms including fatigue, fever and failure to thrive. An important gene associated with Agammaglobulinemia, X-Linked 1 is BTK (Bruton Tyrosine Kinase), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Integrin Pathway. The drugs Hyaluronic acid and Adjuvants, Immunologic have been mentioned in the context of this disorder. Affiliated tissues include b cells, skin and lung, and related phenotypes are Decreased viability and neoplasm

Disease Ontology : 12 A B cell deficiency that is that has material basis in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.

Genetics Home Reference : 25 X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection. B cells can mature into the cells that produce special proteins called antibodies or immunoglobulins. Antibodies attach to specific foreign particles and germs, marking them for destruction. Individuals with XLA are more susceptible to infections because their body makes very few antibodies.

OMIM : 54 X-linked agammaglobulinemia is an immunodeficiency characterized by failure to produce mature B lymphocytes and... (300755) more...

UniProtKB/Swiss-Prot : 66 X-linked agammaglobulinemia: Humoral immunodeficiency disease which results in developmental defects in the maturation pathway of B-cells. Affected boys have normal levels of pre-B-cells in their bone marrow but virtually no circulating mature B-lymphocytes. This results in a lack of immunoglobulins of all classes and leads to recurrent bacterial infections like otitis, conjunctivitis, dermatitis, sinusitis in the first few years of life, or even some patients present overwhelming sepsis or meningitis, resulting in death in a few hours. Treatment in most cases is by infusion of intravenous immunoglobulin.

Wikipedia : 71 X-linked agammaglobulinemia (XLA) is a rare genetic disorder discovered in 1952 that affects the body\'s... more...

GeneReviews: NBK1453

Related Diseases for Agammaglobulinemia, X-Linked 1

Graphical network of the top 20 diseases related to Agammaglobulinemia, X-Linked 1:



Diseases related to Agammaglobulinemia, X-Linked 1

Symptoms & Phenotypes for Agammaglobulinemia, X-Linked 1

Symptoms by clinical synopsis from OMIM:

300755

Clinical features from OMIM:

300755

Human phenotypes related to Agammaglobulinemia, X-Linked 1:

56 32 (show all 50)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 56 32 Very frequent (99-80%) HP:0012378
2 fever 56 32 Very frequent (99-80%) HP:0001945
3 failure to thrive 56 32 Very frequent (99-80%) HP:0001508
4 chronic otitis media 56 32 Very frequent (99-80%) HP:0000389
5 arthritis 56 32 Frequent (79-30%) HP:0001369
6 malabsorption 56 32 Occasional (29-5%) HP:0002024
7 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
8 short stature 56 32 Very frequent (99-80%) HP:0004322
9 immunodeficiency 56 32 Very frequent (99-80%) HP:0002721
10 hepatitis 56 32 Occasional (29-5%) HP:0012115
11 anemia 56 32 Occasional (29-5%) HP:0001903
12 glossoptosis 56 32 Very frequent (99-80%) HP:0000162
13 neoplasm 56 32 Occasional (29-5%) HP:0002664
14 weight loss 56 32 Occasional (29-5%) HP:0001824
15 sinusitis 56 32 Very frequent (99-80%) HP:0000246
16 autoimmunity 56 32 Occasional (29-5%) HP:0002960
17 thrombocytopenia 56 32 Occasional (29-5%) HP:0001873
18 skin ulcer 56 32 Very frequent (99-80%) HP:0200042
19 hypopigmented skin patches 56 32 Occasional (29-5%) HP:0001053
20 hypocalcemia 56 32 Frequent (79-30%) HP:0002901
21 abnormality of the tonsils 56 32 Very frequent (99-80%) HP:0100765
22 osteomyelitis 56 32 Occasional (29-5%) HP:0002754
23 conjunctivitis 56 32 Very frequent (99-80%) HP:0000509
24 skin rash 56 32 Very frequent (99-80%) HP:0000988
25 meningitis 56 32 Frequent (79-30%) HP:0001287
26 alopecia 56 32 Occasional (29-5%) HP:0001596
27 neutropenia 56 32 Frequent (79-30%) HP:0001875
28 chronic diarrhea 56 32 Very frequent (99-80%) HP:0002028
29 agammaglobulinemia 56 32 Very frequent (99-80%) HP:0004432
30 recurrent pneumonia 56 32 Very frequent (99-80%) HP:0006532
31 cellulitis 56 32 Frequent (79-30%) HP:0100658
32 sepsis 56 32 Frequent (79-30%) HP:0100806
33 recurrent cutaneous abscess formation 56 32 Very frequent (99-80%) HP:0100838
34 diarrhea 32 HP:0002014
35 encephalitis 32 HP:0002383
36 hearing impairment 32 HP:0000365
37 delayed speech and language development 32 HP:0000750
38 abnormality of the lymphatic system 56 Very frequent (99-80%)
39 otitis media 32 HP:0000388
40 abnormality of lung morphology 56 Frequent (79-30%)
41 recurrent urinary tract infections 32 HP:0000010
42 pneumonia 32 HP:0002090
43 prostatitis 32 HP:0000024
44 septic arthritis 32 HP:0003095
45 epididymitis 32 HP:0000031
46 cor pulmonale 32 HP:0001648
47 pyoderma 32 HP:0000999
48 enteroviral hepatitis 32 HP:0001412
49 lymph node hypoplasia 32 HP:0002732
50 enteroviral dermatomyositis syndrome 32 HP:0003729

UMLS symptoms related to Agammaglobulinemia, X-Linked 1:


diarrhea

GenomeRNAi Phenotypes related to Agammaglobulinemia, X-Linked 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.7 BTK
2 Decreased viability GR00221-A-2 9.7 BTK
3 Decreased viability GR00221-A-3 9.7 BTK
4 Decreased viability GR00221-A-4 9.7 ITK BTK
5 Decreased viability GR00301-A 9.7 BTK ITK SRC
6 Decreased viability GR00342-S-1 9.7 ITK
7 Decreased viability GR00342-S-2 9.7 ITK
8 Decreased viability GR00342-S-3 9.7 ITK
9 Decreased viability in HMC1.1 cells GR00105-A-0 8.62 ITK SRC

MGI Mouse Phenotypes related to Agammaglobulinemia, X-Linked 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.92 BTK PLCG2 SRC WAS

Drugs & Therapeutics for Agammaglobulinemia, X-Linked 1

Drugs for Agammaglobulinemia, X-Linked 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 63)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
2 Adjuvants, Immunologic Phase 4
3 Viscosupplements Phase 4
4 Immunoglobulin G Phase 4,Phase 3
5 Immunoglobulins Phase 4,Phase 3
6 gamma-Globulins Phase 4,Phase 3
7 Immunoglobulins, Intravenous Phase 4,Phase 3
8 Protective Agents Phase 4
9 Rho(D) Immune Globulin Phase 4,Phase 3
10 Antibodies Phase 4,Phase 3
11
Melphalan Approved Phase 2 148-82-3 4053 460612
12
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
13
alemtuzumab Approved, Investigational Phase 2 216503-57-0
14
Thiotepa Approved Phase 2 52-24-4 5453
15 Alkylating Agents Phase 2
16 Immunosuppressive Agents Phase 2
17 Antimetabolites Phase 2
18 Antimetabolites, Antineoplastic Phase 2
19 Antineoplastic Agents, Alkylating Phase 2
20
Adenosine Approved, Investigational 58-61-7 60961
21
Cyclosporine Approved, Investigational, Vet_approved 79217-60-0, 59865-13-3 5284373 6435893
22
Etoposide Approved 33419-42-0 36462
23
Methotrexate Approved 1959-05-2, 59-05-2 126941
24
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
25
Busulfan Approved, Investigational 55-98-1 2478
26
Prednisolone Approved, Vet_approved 50-24-8 5755
27
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
28
Methylprednisolone Approved, Vet_approved 83-43-2 6741
29
Prednisone Approved, Vet_approved 53-03-2 5865
30
leucovorin Approved, Nutraceutical 58-05-9 54575, 6560146 143
31
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
32 Vaccines
33 Prednisolone acetate
34 glucocorticoids
35 Folic Acid Antagonists
36 Gastrointestinal Agents
37 Neuroprotective Agents
38 Complement System Proteins
39 Topoisomerase Inhibitors
40 Nucleic Acid Synthesis Inhibitors
41 Dermatologic Agents
42 Hormone Antagonists
43 Hormones
44 Peripheral Nervous System Agents
45 Hormones, Hormone Substitutes, and Hormone Antagonists
46 Vitamin B Complex
47 Etoposide phosphate
48 Prednisolone hemisuccinate
49 Prednisolone phosphate
50 Anti-Infective Agents

Interventional clinical trials:

(show all 15)
id Name Status NCT ID Phase
1 Hyaluronic Acid Filler IMD1 Basic for Correction of Nasolabial Folds Completed NCT00429520 Phase 4
2 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
3 Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary Immunodeficiency Completed NCT00520494 Phase 4
4 Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy Completed NCT00542997 Phase 3
5 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
6 A Clinical Study of Intravenous Immunoglobulin Completed NCT00468273 Phase 3
7 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
8 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3
9 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Active, not recruiting NCT01884311 Phase 3
10 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2
11 Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia Unknown status NCT02234791
12 Study of Genetic and Molecular Defects in Primary Immunodeficiency Disorders Unknown status NCT00004341
13 Assessment of Immunogenicity of Zostavax® in Patients With Antibody Deficiency 60 Years of Age and Older Recruiting NCT02960399
14 Participation in a Research Registry for Immune Disorders Recruiting NCT01953016
15 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054

Search NIH Clinical Center for Agammaglobulinemia, X-Linked 1

Cochrane evidence based reviews: bruton type agammaglobulinemia

Genetic Tests for Agammaglobulinemia, X-Linked 1

Genetic tests related to Agammaglobulinemia, X-Linked 1:

id Genetic test Affiliating Genes
1 X-Linked Agammaglobulinemia 29 24 BTK
2 Agammaglobulinemia, X-Linked 1 29

Anatomical Context for Agammaglobulinemia, X-Linked 1

MalaCards organs/tissues related to Agammaglobulinemia, X-Linked 1:

39
B Cells, Skin, Lung, Bone, Bone Marrow, Prostate, Tonsil

Publications for Agammaglobulinemia, X-Linked 1

Variations for Agammaglobulinemia, X-Linked 1

UniProtKB/Swiss-Prot genetic disease variations for Agammaglobulinemia, X-Linked 1:

66 (show top 50) (show all 110)
id Symbol AA change Variation ID SNP ID
1 BTK p.Leu11Pro VAR_006216
2 BTK p.Lys12Arg VAR_006217
3 BTK p.Ser14Phe VAR_006218
4 BTK p.Phe25Ser VAR_006219
5 BTK p.Arg28His VAR_006220 rs128620185
6 BTK p.Arg28Pro VAR_006221
7 BTK p.Thr33Pro VAR_006222 rs128620189
8 BTK p.Val64Phe VAR_006223
9 BTK p.Val113Asp VAR_006225 rs128621190
10 BTK p.Arg288Trp VAR_006227 rs128621194
11 BTK p.Leu295Pro VAR_006228
12 BTK p.Gly302Glu VAR_006230
13 BTK p.Arg307Gly VAR_006231 rs128621195
14 BTK p.Tyr334Ser VAR_006232 rs128621196
15 BTK p.Leu358Phe VAR_006233
16 BTK p.Tyr361Cys VAR_006234 rs28935478
17 BTK p.His362Gln VAR_006235
18 BTK p.His364Pro VAR_006236
19 BTK p.Asn365Tyr VAR_006237
20 BTK p.Ile370Met VAR_006238
21 BTK p.Leu408Pro VAR_006239 rs128621198
22 BTK p.Tyr418His VAR_006240 rs144079566
23 BTK p.Ile429Asn VAR_006241
24 BTK p.Lys430Glu VAR_006242 rs128620184
25 BTK p.Tyr476Asp VAR_006243
26 BTK p.Met477Arg VAR_006244
27 BTK p.Cys502Phe VAR_006245
28 BTK p.Cys502Trp VAR_006246 rs41310709
29 BTK p.Cys506Arg VAR_006247 rs128621200
30 BTK p.Cys506Tyr VAR_006248
31 BTK p.Met509Val VAR_006249
32 BTK p.Arg520Gln VAR_006251 rs128621202
33 BTK p.Asp521His VAR_006252
34 BTK p.Asp521Asn VAR_006253
35 BTK p.Arg525Pro VAR_006254
36 BTK p.Arg525Gln VAR_006255 rs128620183
37 BTK p.Asn526Lys VAR_006256
38 BTK p.Leu542Pro VAR_006257 rs128621203
39 BTK p.Arg544Lys VAR_006258
40 BTK p.Arg562Pro VAR_006259 rs28935176
41 BTK p.Arg562Trp VAR_006260 rs128621204
42 BTK p.Glu567Lys VAR_006261
43 BTK p.Trp581Arg VAR_006262 rs128621205
44 BTK p.Ala582Val VAR_006263
45 BTK p.Met587Leu VAR_006264
46 BTK p.Glu589Gly VAR_006265 rs128621206
47 BTK p.Ser592Pro VAR_006267
48 BTK p.Gly594Glu VAR_006268
49 BTK p.Gly594Arg VAR_006269
50 BTK p.Tyr598Cys VAR_006270

ClinVar genetic disease variations for Agammaglobulinemia, X-Linked 1:

6 (show top 50) (show all 59)
id Gene Variation Type Significance SNP ID Assembly Location
1 BTK BTK, 1-BP DEL, IVS11DS, +1G deletion Pathogenic
2 BTK BTK, IVS12AS, A-T, -2 single nucleotide variant Pathogenic
3 BTK NM_000061.2(BTK): c.1574G> A (p.Arg525Gln) single nucleotide variant Pathogenic rs128620183 GRCh37 Chromosome X, 100609675: 100609675
4 BTK NM_000061.2(BTK): c.1288A> G (p.Lys430Glu) single nucleotide variant Pathogenic rs128620184 GRCh37 Chromosome X, 100611833: 100611833
5 BTK NM_000061.2(BTK): c.37C> T (p.Arg13Ter) single nucleotide variant Pathogenic rs128620187 GRCh37 Chromosome X, 100630236: 100630236
6 BTK NM_000061.2(BTK): c.43C> T (p.Gln15Ter) single nucleotide variant Pathogenic rs128620188 GRCh37 Chromosome X, 100630230: 100630230
7 BTK NM_000061.2(BTK): c.83G> A (p.Arg28His) single nucleotide variant Pathogenic rs128620185 GRCh37 Chromosome X, 100630190: 100630190
8 BTK NM_000061.2(BTK): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs128620186 GRCh37 Chromosome X, 100630271: 100630271
9 BTK NM_000061.2(BTK): c.97A> C (p.Thr33Pro) single nucleotide variant Pathogenic rs128620189 GRCh37 Chromosome X, 100630176: 100630176
10 BTK NM_000061.2(BTK): c.228_231delAAGA (p.Glu76Aspfs) deletion Pathogenic rs864321660 GRCh37 Chromosome X, 100629533: 100629536
11 BTK NM_000061.2(BTK): c.141+3_141+4del deletion Pathogenic rs864321661 GRCh38 Chromosome X, 101375140: 101375141
12 BTK NM_000061.2(BTK): c.310-1G> C single nucleotide variant Pathogenic rs864321662 GRCh37 Chromosome X, 100625068: 100625068
13 BTK NM_000061.2(BTK): c.310-2A> G single nucleotide variant Pathogenic rs864321663 GRCh38 Chromosome X, 101370081: 101370081
14 BTK NM_000061.2(BTK): c.338T> A (p.Val113Asp) single nucleotide variant Pathogenic rs128621190 GRCh37 Chromosome X, 100625039: 100625039
15 BTK NM_000061.2(BTK): c.389delA (p.Asn130Thrfs) deletion Pathogenic rs864321664 GRCh37 Chromosome X, 100624988: 100624988
16 BTK NM_000061.2(BTK): c.557dupA (p.Pro187Alafs) duplication Pathogenic rs864321665 GRCh37 Chromosome X, 100617192: 100617192
17 BTK BTK, 8-BP INS, NT721 insertion Pathogenic
18 BTK BTK, 1-BP DEL, CODON 218, A deletion Pathogenic
19 BTK NM_000061.2(BTK): c.718G> T (p.Glu240Ter) single nucleotide variant Pathogenic rs128621191 GRCh37 Chromosome X, 100615614: 100615614
20 BTK NM_000061.2(BTK): c.755G> A (p.Trp252Ter) single nucleotide variant Pathogenic rs128621192 GRCh37 Chromosome X, 100615577: 100615577
21 BTK NM_000061.2(BTK): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs128621193 GRCh37 Chromosome X, 100615569: 100615569
22 BTK BTK, IVS9DS, G-A, +1 single nucleotide variant Pathogenic
23 BTK BTK, 1-BP DEL/3-BP INS, CODON 261 indel Pathogenic
24 BTK NM_000061.2(BTK): c.862C> T (p.Arg288Trp) single nucleotide variant Pathogenic rs128621194 GRCh37 Chromosome X, 100614313: 100614313
25 BTK NM_000061.2(BTK): c.919A> G (p.Arg307Gly) single nucleotide variant Pathogenic rs128621195 GRCh37 Chromosome X, 100613660: 100613660
26 BTK NM_000061.2(BTK): c.1001A> C (p.Tyr334Ser) single nucleotide variant Pathogenic rs128621196 GRCh37 Chromosome X, 100613399: 100613399
27 BTK BTK, 16-BP INS, NT1263 insertion Pathogenic
28 BTK NM_000061.2(BTK): c.1223T> C (p.Leu408Pro) single nucleotide variant Pathogenic rs128621198 GRCh37 Chromosome X, 100611898: 100611898
29 BTK NM_000061.2(BTK): c.1275C> A (p.Tyr425Ter) single nucleotide variant Pathogenic rs128621199 GRCh37 Chromosome X, 100611846: 100611846
30 BTK NM_000061.2(BTK): c.1506C> A (p.Cys502Ter) single nucleotide variant Pathogenic rs41310709 GRCh37 Chromosome X, 100611100: 100611100
31 BTK NM_000061.2(BTK): c.1516T> C (p.Cys506Arg) single nucleotide variant Pathogenic rs128621200 GRCh37 Chromosome X, 100611090: 100611090
32 BTK NM_000061.2(BTK): c.1558C> T (p.Arg520Ter) single nucleotide variant Pathogenic rs128621201 GRCh37 Chromosome X, 100611048: 100611048
33 BTK NM_000061.2(BTK): c.1559G> A (p.Arg520Gln) single nucleotide variant Pathogenic rs128621202 GRCh37 Chromosome X, 100611047: 100611047
34 BTK BTK, 1-BP DEL, 1720A deletion Pathogenic
35 BTK BTK, 4-BP DEL, CODON 527, GTTT deletion Pathogenic
36 BTK BTK, IVS16DS, G-T, +1 single nucleotide variant Pathogenic
37 BTK NM_000061.2(BTK): c.1684C> T (p.Arg562Trp) single nucleotide variant Pathogenic rs128621204 GRCh37 Chromosome X, 100608924: 100608924
38 BTK NM_000061.2(BTK): c.1741T> C (p.Trp581Arg) single nucleotide variant Pathogenic rs128621205 GRCh37 Chromosome X, 100608867: 100608867
39 BTK NM_000061.2(BTK): c.1766A> G (p.Glu589Gly) single nucleotide variant Pathogenic rs128621206 GRCh37 Chromosome X, 100608324: 100608324
40 BTK NM_000061.2(BTK): c.1773C> A (p.Tyr591Ter) single nucleotide variant Pathogenic rs128621207 GRCh37 Chromosome X, 100608317: 100608317
41 BTK NM_000061.2(BTK): c.1820C> A (p.Ala607Asp) single nucleotide variant Pathogenic rs128621208 GRCh37 Chromosome X, 100608270: 100608270
42 BTK NM_000061.2(BTK): c.1838G> A (p.Gly613Asp) single nucleotide variant Pathogenic rs128621209 GRCh37 Chromosome X, 100608252: 100608252
43 BTK NM_000061.2(BTK): c.1889T> A (p.Met630Lys) single nucleotide variant Pathogenic rs128621210 GRCh37 Chromosome X, 100608201: 100608201
44 BTK NM_000061.2(BTK): c.1906G> T (p.Glu636Ter) single nucleotide variant Pathogenic rs128622211 GRCh37 Chromosome X, 100608184: 100608184
45 BTK BTK, 6-BP INS, NT2041 insertion Pathogenic
46 BTK NM_000061.2(BTK): c.1955T> C (p.Leu652Pro) single nucleotide variant Pathogenic rs128622212 GRCh37 Chromosome X, 100604898: 100604898
47 BTK BTK, 26-BP INS, NT2019 insertion Pathogenic
48 BTK NM_000061.2(BTK): c.1685G> C (p.Arg562Pro) single nucleotide variant Pathogenic rs104894770 GRCh37 Chromosome X, 100608923: 100608923
49 BTK BTK, 2-BP DEL, 54TG deletion Pathogenic
50 BTK BTK, IVS1DS, G-A, +5 single nucleotide variant Pathogenic

Expression for Agammaglobulinemia, X-Linked 1

Search GEO for disease gene expression data for Agammaglobulinemia, X-Linked 1.

Pathways for Agammaglobulinemia, X-Linked 1

Pathways related to Agammaglobulinemia, X-Linked 1 according to GeneCards Suite gene sharing:

(show all 31)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 BTK ITK PLCG2 SRC WAS
2
Show member pathways
13.06 BTK ITK PLCG2 SRC WAS
3
Show member pathways
13.04 BTK ITK PLCG2 SRC WAS
4
Show member pathways
13.03 BTK ITK PLCG2 SRC
5
Show member pathways
12.99 BTK PLCG2 SRC WAS
6
Show member pathways
12.78 BTK ITK PLCG2 SRC
7
Show member pathways
12.57 BTK IGHM PLCG2 SRC
8
Show member pathways
12.53 ITK PLCG2 SRC WAS
9
Show member pathways
12.45 BTK PLCG2 SRC
10
Show member pathways
12.43 BTK ITK PLCG2 SRC WAS
11
Show member pathways
12.38 ITK PLCG2 SRC
12
Show member pathways
12.37 BTK PLCG2 SRC
13
Show member pathways
12.35 BTK PLCG2 SRC
14 12.26 BTK ITK PLCG2
15
Show member pathways
12.23 BTK IGHM ITK PLCG2
16
Show member pathways
12.13 ITK PLCG2 WAS
17
Show member pathways
12.12 BTK PLCG2 SH3BP5
18
Show member pathways
12.1 BTK PLCG2 SRC
19
Show member pathways
12.05 BTK PLCG2 SRC
20
Show member pathways
11.89 BTK IGHM ITK PLCG2 SRC
21 11.79 BTK ITK SRC
22
Show member pathways
11.76 BTK PLCG2 SRC WAS
23 11.7 BTK PLCG2 SRC
24
Show member pathways
11.61 BTK ITK PLCG2
25 11.58 PLCG2 SRC
26 11.52 SRC WAS
27 11.49 SRC WAS
28
Show member pathways
11.48 BTK PLCG2 SRC
29 11.43 SRC WAS
30
Show member pathways
11.35 PLCG2 SRC
31 10.54 BTK ITK PLCG2 SRC

GO Terms for Agammaglobulinemia, X-Linked 1

Cellular components related to Agammaglobulinemia, X-Linked 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 actin filament GO:0005884 8.96 SRC WAS
2 extrinsic component of cytoplasmic side of plasma membrane GO:0031234 8.8 BTK ITK SRC

Biological processes related to Agammaglobulinemia, X-Linked 1 according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.7 BTK ITK SRC
2 regulation of cell proliferation GO:0042127 9.63 BTK ITK SRC
3 innate immune response GO:0045087 9.62 BTK IGHM ITK SRC
4 adaptive immune response GO:0002250 9.61 BTK IGHM ITK
5 Fc-epsilon receptor signaling pathway GO:0038095 9.58 BTK ITK PLCG2
6 T cell receptor signaling pathway GO:0050852 9.54 ITK PLCG2 WAS
7 calcium-mediated signaling GO:0019722 9.51 BTK PLCG2
8 T cell activation GO:0042110 9.49 ITK WAS
9 cellular response to reactive oxygen species GO:0034614 9.48 BTK SRC
10 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.43 PLCG2 SRC WAS
11 B cell receptor signaling pathway GO:0050853 9.33 BTK IGHM PLCG2
12 peptidyl-tyrosine autophosphorylation GO:0038083 9.13 BTK ITK SRC
13 intracellular signal transduction GO:0035556 9.02 BTK ITK PLCG2 SH3BP5 SRC

Molecular functions related to Agammaglobulinemia, X-Linked 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 receptor binding GO:0005102 9.33 BTK ITK SRC
2 protein tyrosine kinase activity GO:0004713 9.13 BTK ITK SRC
3 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.8 BTK ITK SRC

Sources for Agammaglobulinemia, X-Linked 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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