MCID: ISL085
MIFTS: 31

Isolated Agammaglobulinemia

Categories: Blood diseases, Rare diseases

Aliases & Classifications for Isolated Agammaglobulinemia

MalaCards integrated aliases for Isolated Agammaglobulinemia:

Name: Isolated Agammaglobulinemia 58
Isolated Hypogammaglobulinemia 58

Characteristics:

Orphanet epidemiological data:

58
isolated agammaglobulinemia
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare immunological diseases


Summaries for Isolated Agammaglobulinemia

MalaCards based summary : Isolated Agammaglobulinemia, also known as isolated hypogammaglobulinemia, is related to agammaglobulinemia, x-linked. An important gene associated with Isolated Agammaglobulinemia is BTK (Bruton Tyrosine Kinase), and among its related pathways/superpathways are Downstream signaling events of B Cell Receptor (BCR) and NF-kappaB Signaling. Affiliated tissues include eye, b cells and bone marrow, and related phenotypes are failure to thrive and recurrent respiratory infections

Related Diseases for Isolated Agammaglobulinemia

Diseases related to Isolated Agammaglobulinemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia, x-linked 9.5 SH3KBP1 BTK

Symptoms & Phenotypes for Isolated Agammaglobulinemia

Human phenotypes related to Isolated Agammaglobulinemia:

58 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
2 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
5 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
6 sinusitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000246
7 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
8 otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000388
9 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
10 recurrent cutaneous abscess formation 58 31 hallmark (90%) Very frequent (99-80%) HP:0100838
11 inflammatory abnormality of the eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0100533
12 diarrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0002014
13 abnormal lymphocyte morphology 31 hallmark (90%) HP:0004332
14 abnormality of neutrophils 58 31 frequent (33%) Frequent (79-30%) HP:0001874
15 pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0002090
16 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
17 abnormal facial shape 58 31 occasional (7.5%) Occasional (29-5%) HP:0001999
18 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024
19 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
20 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
21 autoimmunity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002960
22 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
23 cellulitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100658
24 abnormality of the tonsils 58 31 occasional (7.5%) Occasional (29-5%) HP:0100765
25 meningitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001287
26 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806
27 clinodactyly of the 5th toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0001864
28 abnormality of the lymphatic system 58 Frequent (79-30%)
29 abnormality of lymphocytes 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Isolated Agammaglobulinemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00154-A 9.17 BTK
2 Decreased viability GR00221-A-1 9.17 BTK
3 Decreased viability GR00221-A-2 9.17 BTK SH3KBP1
4 Decreased viability GR00221-A-3 9.17 BTK
5 Decreased viability GR00221-A-4 9.17 BTK
6 Decreased viability GR00301-A 9.17 BTK

Drugs & Therapeutics for Isolated Agammaglobulinemia

Search Clinical Trials , NIH Clinical Center for Isolated Agammaglobulinemia

Genetic Tests for Isolated Agammaglobulinemia

Anatomical Context for Isolated Agammaglobulinemia

MalaCards organs/tissues related to Isolated Agammaglobulinemia:

40
Eye, B Cells, Bone Marrow

Publications for Isolated Agammaglobulinemia

Articles related to Isolated Agammaglobulinemia:

(show all 31)
# Title Authors PMID Year
1
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. 61 6
9445504 1998
2
Germline deletion of CIN85 in humans with X chromosome-linked antibody deficiency. 6
29636373 2018
3
[A retrospective study of one case of X-linked agammaglobulinemia]. 6
17327079 2006
4
Genetic analysis of patients with defects in early B-cell development. 6
15661032 2005
5
Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients. 6
12768435 2003
6
Identification of mutations of Bruton's tyrosine kinase gene (BTK) in Brazilian patients with X-linked agammaglobulinemia. 6
12204007 2002
7
Composition of precursor B-cell compartment in bone marrow from patients with X-linked agammaglobulinemia compared with healthy children. 6
11809909 2002
8
Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis. 6
11742281 2001
9
Characterization of mutations, including a novel regulatory defect in the first intron, in Bruton's tyrosine kinase gene from seven Korean X-linked agammaglobulinemia families. 6
11564824 2001
10
Development of type 1 diabetes despite severe hereditary B-cell deficiency. 6
11586956 2001
11
Analysis of Btk mutations in patients with X-linked agammaglobulinaemia (XLA) and determination of carrier status in normal female relatives: a nationwide study of Btk deficiency in Greece. 6
11555397 2001
12
A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency. 6
11445810 2001
13
Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene. 6
10678660 2000
14
Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia. 6
9143921 1997
15
Discordant phenotype in siblings with X-linked agammaglobulinemia. 6
8644706 1996
16
The spectrum of mutations in Btk that cause X-linked agammaglobulinemia. 6
7554467 1995
17
Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. 6
7809124 1994
18
Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families. 6
7849721 1994
19
Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia. 6
7880320 1994
20
Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase. 6
7849697 1994
21
Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia. 6
8090769 1994
22
Assessing inheritance of agammaglobulinemia. 6
8164707 1994
23
Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia. 6
8164701 1994
24
Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis. 6
8162056 1994
25
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. 6
8380905 1993
26
Human genetics. Becoming B cells. 6
7678697 1993
27
Carrier detection in typical and atypical X-linked agammaglobulinemia. 6
2896233 1988
28
Agammaglobulinemia, neutropenia, fever, and abdominal pain. 6
4697357 1973
29
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells. 61
24216514 2013
30
Visualization of amyloid arthropathy in light-chain systemic amyloidosis on F-18 FDG PET/CT scan. 61
21157212 2011
31
Clinical features and follow-up of Chinese patients with symptomatic hypogammaglobulinemia in infancy. 61
19781364 2009

Variations for Isolated Agammaglobulinemia

ClinVar genetic disease variations for Isolated Agammaglobulinemia:

6 (show top 50) (show all 106)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BTK NM_000061.2(BTK):c.43C>T (p.Gln15Ter) SNV Pathogenic 11345 rs128620188 X:100630230-100630230 X:101375242-101375242
2 BTK NM_000061.2(BTK):c.2T>C (p.Met1Thr) SNV Pathogenic 11349 rs128620186 X:100630271-100630271 X:101375283-101375283
3 BTK NM_000061.2(BTK):c.97A>C (p.Thr33Pro) SNV Pathogenic 11351 rs128620189 X:100630176-100630176 X:101375188-101375188
4 BTK NM_000061.2(BTK):c.228_231del (p.Glu76fs) Deletion Pathogenic 11352 rs864321660 X:100629533-100629536 X:101374545-101374548
5 BTK NM_000061.2(BTK):c.141+3_141+4del Deletion Pathogenic 11353 rs864321661 X:100630128-100630129 X:101375140-101375141
6 BTK NM_000061.2(BTK):c.310-1G>C SNV Pathogenic 11354 rs864321662 X:100625068-100625068 X:101370080-101370080
7 BTK NM_000061.2(BTK):c.310-2A>G SNV Pathogenic 11355 rs864321663 X:100625069-100625069 X:101370081-101370081
8 BTK NM_000061.2(BTK):c.338T>A (p.Val113Asp) SNV Pathogenic 11356 rs128621190 X:100625039-100625039 X:101370051-101370051
9 BTK NM_000061.2(BTK):c.389del (p.Asn130fs) Deletion Pathogenic 11357 rs864321664 X:100624988-100624988 X:101370000-101370000
10 BTK NM_000061.2(BTK):c.588_589insCTACATAG (p.Ile197fs) Insertion Pathogenic 11359 rs1569293253 X:100617160-100617161 X:101362172-101362173
11 BTK NM_000061.2(BTK):c.653del (p.Lys218fs) Deletion Pathogenic 11360 rs1569292813 X:100615679-100615679 X:101360691-101360691
12 BTK NM_000061.2(BTK):c.718G>T (p.Glu240Ter) SNV Pathogenic 11361 rs128621191 X:100615614-100615614 X:101360626-101360626
13 BTK NM_000061.2(BTK):c.755G>A (p.Trp252Ter) SNV Pathogenic 11362 rs128621192 X:100615577-100615577 X:101360589-101360589
14 BTK NM_000061.2(BTK):c.839+1G>A SNV Pathogenic 11364 rs1569292649 X:100615075-100615075 X:101360087-101360087
15 BTK BTK, 1-BP DEL/3-BP INS, CODON 261 Indel Pathogenic 11365
16 BTK NM_000061.2(BTK):c.919A>G (p.Arg307Gly) SNV Pathogenic 11367 rs128621195 X:100613660-100613660 X:101358672-101358672
17 BTK NM_000061.2(BTK):c.1001A>C (p.Tyr334Ser) SNV Pathogenic 11368 rs128621196 X:100613399-100613399 X:101358411-101358411
18 BTK BTK, 1-BP DEL, IVS11DS, +1G Deletion Pathogenic 11369
19 BTK BTK, IVS12AS, A-T, -2 SNV Pathogenic 11370
20 BTK BTK, 16-BP INS, NT1263 Insertion Pathogenic 11372
21 BTK BTK, 1-BP DEL, 1720A Deletion Pathogenic 11379
22 BTK BTK, 4-BP DEL, CODON 527, GTTT Deletion Pathogenic 11380
23 BTK NM_000061.2(BTK):c.1631+1G>T SNV Pathogenic 11382 rs1569291215 X:100609617-100609617 X:101354629-101354629
24 BTK NM_000061.2(BTK):c.1741T>C (p.Trp581Arg) SNV Pathogenic 11384 rs128621205 X:100608867-100608867 X:101353879-101353879
25 BTK NM_000061.2(BTK):c.1766A>G (p.Glu589Gly) SNV Pathogenic 11385 rs128621206 X:100608324-100608324 X:101353336-101353336
26 BTK NM_000061.2(BTK):c.1820C>A (p.Ala607Asp) SNV Pathogenic 11387 rs128621208 X:100608270-100608270 X:101353282-101353282
27 BTK NM_000061.2(BTK):c.1838G>A (p.Gly613Asp) SNV Pathogenic 11388 rs128621209 X:100608252-100608252 X:101353264-101353264
28 BTK NM_000061.2(BTK):c.1889T>A (p.Met630Lys) SNV Pathogenic 11389 rs128621210 X:100608201-100608201 X:101353213-101353213
29 BTK NM_000061.2(BTK):c.1906G>T (p.Glu636Ter) SNV Pathogenic 11390 rs128622211 X:100608184-100608184 X:101353196-101353196
30 BTK BTK, 6-BP INS, NT2041 Insertion Pathogenic 11391
31 BTK NM_000061.2(BTK):c.1955T>C (p.Leu652Pro) SNV Pathogenic 11392 rs128622212 X:100604898-100604898 X:101349910-101349910
32 BTK BTK, 26-BP INS, NT2019 Insertion Pathogenic 11393
33 BTK NM_000061.2(BTK):c.1685G>C (p.Arg562Pro) SNV Pathogenic 11394 rs104894770 X:100608923-100608923 X:101353935-101353935
34 BTK NM_000061.2(BTK):c.642_643del (p.Ser214fs) Deletion Pathogenic 11395 rs1569292818 X:100615689-100615690 X:101360701-101360702
35 BTK NM_000061.2(BTK):c.-31+5G>A SNV Pathogenic 11396 rs1131691354 X:100641045-100641045 X:101386057-101386057
36 BTK BTK, 6.1-KB DEL Deletion Pathogenic 11397
37 BTK NM_000061.3(BTK):c.655del (p.Val219fs) Deletion Pathogenic 632731 rs1569292810 X:100615677-100615677 X:101360689-101360689
38 BTK NM_000061.3(BTK):c.1784dup (p.Met596fs) Duplication Pathogenic 804063 rs1603001771 X:100608305-100608306 X:101353317-101353318
39 BTK NM_000061.3(BTK):c.721dup (p.Tyr241fs) Duplication Pathogenic 804064 rs1603008381 X:100615610-100615611 X:101360622-101360623
40 BTK NM_000061.3(BTK):c.300T>A (p.Tyr100Ter) SNV Pathogenic 973552 X:100626630-100626630 X:101371642-101371642
41 BTK NM_001287345.1(BTK):c.1038+1529A>G SNV Pathogenic 11343 rs128620184 X:100611833-100611833 X:101356845-101356845
42 BTK NM_001287345.1(BTK):c.1038+44A>G SNV Pathogenic 11346 rs28935478 X:100613318-100613318 X:101358330-101358330
43 BTK NM_001287345.1(BTK):c.1038+1464T>C SNV Pathogenic 11373 rs128621198 X:100611898-100611898 X:101356910-101356910
44 BTK NM_001287345.1(BTK):c.1038+1516C>A SNV Pathogenic 11374 rs128621199 X:100611846-100611846 X:101356858-101356858
45 BTK NM_001287345.1(BTK):c.1039-1418C>A SNV Pathogenic 11375 rs41310709 X:100611100-100611100 X:101356112-101356112
46 BTK NM_000061.2(BTK):c.557dup (p.Pro187fs) Duplication Pathogenic 11358 rs864321665 X:100617191-100617192 X:101362203-101362204
47 BTK NM_000061.2(BTK):c.862C>T (p.Arg288Trp) SNV Pathogenic 11366 rs128621194 X:100614313-100614313 X:101359325-101359325
48 BTK NM_000061.2(BTK):c.1516T>C (p.Cys506Arg) SNV Pathogenic 11376 rs128621200 X:100611090-100611090 X:101356102-101356102
49 BTK NM_000061.2(BTK):c.1559G>A (p.Arg520Gln) SNV Pathogenic 11378 rs128621202 X:100611047-100611047 X:101356059-101356059
50 BTK NM_000061.2(BTK):c.472_475del (p.Thr158fs) Deletion Pathogenic 35761 rs193922128 X:100617594-100617597 X:101362606-101362609

Expression for Isolated Agammaglobulinemia

Search GEO for disease gene expression data for Isolated Agammaglobulinemia.

Pathways for Isolated Agammaglobulinemia

Pathways related to Isolated Agammaglobulinemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.9 SH3KBP1 BTK
2 11.67 SH3KBP1 BTK
3 11.13 SH3KBP1 BTK
4
Show member pathways
10.65 SH3KBP1 BTK

GO Terms for Isolated Agammaglobulinemia

Cellular components related to Isolated Agammaglobulinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 8.62 SH3KBP1 BTK

Biological processes related to Isolated Agammaglobulinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 8.96 SH3KBP1 BTK
2 apoptotic process GO:0006915 8.62 SH3KBP1 BTK

Molecular functions related to Isolated Agammaglobulinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 8.62 SH3KBP1 BTK

Sources for Isolated Agammaglobulinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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