AGM4
MCID: AGM023
MIFTS: 37

Agammaglobulinemia 4, Autosomal Recessive (AGM4)

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

Aliases & Classifications for Agammaglobulinemia 4, Autosomal Recessive

MalaCards integrated aliases for Agammaglobulinemia 4, Autosomal Recessive:

Name: Agammaglobulinemia 4, Autosomal Recessive 57 72 29 6 70
Agammaglobulinemia 4 57 12 13 15
Agm4 57 72
Agammaglobulinemia, Autosomal Recessive, Due to Blnk Defect 57
Agammaglobulinemia Autosomal Recessive Due to Blnk Defect 72
Agammaglobulinemia, Type 4, Autosomal Recessive 39
B Cell Linker Protein Deficiency 12
B-Cell Linker Protein Deficiency 12
Blnk Deficiency 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in first year of life
one patient has been reported (as of august 2010)


HPO:

31
agammaglobulinemia 4, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060027
OMIM® 57 613502
OMIM Phenotypic Series 57 PS601495
MeSH 44 D000361
MedGen 41 C3150752
UMLS 70 C3150752

Summaries for Agammaglobulinemia 4, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 Agammaglobulinemia 4, autosomal recessive: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life.

MalaCards based summary : Agammaglobulinemia 4, Autosomal Recessive, also known as agammaglobulinemia 4, is related to lambda 5 deficiency and agammaglobulinemia, non-bruton type, and has symptoms including diarrhea An important gene associated with Agammaglobulinemia 4, Autosomal Recessive is BLNK (B Cell Linker), and among its related pathways/superpathways are Innate Immune System and GPCR Pathway. Affiliated tissues include b cells and t cells, and related phenotypes are recurrent otitis media and neutropenia

Disease Ontology : 12 An agammaglobulinemia that has material basis in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2.

More information from OMIM: 613502 PS601495

Related Diseases for Agammaglobulinemia 4, Autosomal Recessive

Graphical network of the top 20 diseases related to Agammaglobulinemia 4, Autosomal Recessive:



Diseases related to Agammaglobulinemia 4, Autosomal Recessive

Symptoms & Phenotypes for Agammaglobulinemia 4, Autosomal Recessive

Human phenotypes related to Agammaglobulinemia 4, Autosomal Recessive:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 31 HP:0000403
2 neutropenia 31 HP:0001875
3 agammaglobulinemia 31 HP:0004432
4 recurrent pneumonia 31 HP:0006532
5 diarrhea 31 HP:0002014
6 recurrent bacterial infections 31 HP:0002718
7 chronic sinusitis 31 HP:0011109

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
neutropenia
agammaglobulinemia
hypogammaglobulinemia, profound

Immunology:
recurrent bacterial infections
absent or severely reduced numbers of b cells
decreased or absent pre-b cells
block at the pro-b to pre-b stage of differentiation
inability to mount antibody response to antigen
more
Head And Neck Ears:
otitis media, recurrent

Abdomen Gastrointestinal:
diarrhea

Respiratory:
respiratory infections, recurrent

Head And Neck Head:
sinusitis, chronic

Clinical features from OMIM®:

613502 (Updated 20-May-2021)

UMLS symptoms related to Agammaglobulinemia 4, Autosomal Recessive:


diarrhea

Drugs & Therapeutics for Agammaglobulinemia 4, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Agammaglobulinemia 4, Autosomal Recessive

Genetic Tests for Agammaglobulinemia 4, Autosomal Recessive

Genetic tests related to Agammaglobulinemia 4, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Agammaglobulinemia 4, Autosomal Recessive 29 BLNK

Anatomical Context for Agammaglobulinemia 4, Autosomal Recessive

MalaCards organs/tissues related to Agammaglobulinemia 4, Autosomal Recessive:

40
B Cells, T Cells

Publications for Agammaglobulinemia 4, Autosomal Recessive

Articles related to Agammaglobulinemia 4, Autosomal Recessive:

# Title Authors PMID Year
1
An essential role for BLNK in human B cell development. 57 6
10583958 1999
2
[Prenatal diagnosis of severe hereditary immunologic deficiencies]. 61
4004478 1985
3
Interferon production in primary immunodeficiencies. 61
6092414 1984

Variations for Agammaglobulinemia 4, Autosomal Recessive

ClinVar genetic disease variations for Agammaglobulinemia 4, Autosomal Recessive:

6 (show top 50) (show all 82)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BLNK BLNK, IVS1DS, A-T, +3 SNV Pathogenic 5507 GRCh37:
GRCh38:
2 BLNK NM_013314.3(BLNK):c.114delG Deletion Pathogenic 538835 rs1554906579 GRCh37: 10:98002540-98002540
GRCh38: 10:96242784-96242784
3 BLNK NC_000010.11:g.(?_96271332)_(96271418_?)del Deletion Pathogenic 831064 GRCh37: 10:98031089-98031175
GRCh38:
4 BLNK NM_013314.4(BLNK):c.746+1G>A SNV Likely pathogenic 976234 GRCh37: 10:97969593-97969593
GRCh38: 10:96209837-96209837
5 BLNK NM_013314.4(BLNK):c.273C>A (p.Asn91Lys) SNV Uncertain significance 1000383 GRCh37: 10:97987254-97987254
GRCh38: 10:96227498-96227498
6 BLNK , ZNF518A NM_013314.4(BLNK):c.1276A>T (p.Ile426Phe) SNV Uncertain significance 1006433 GRCh37: 10:97951824-97951824
GRCh38: 10:96192068-96192068
7 BLNK NM_013314.4(BLNK):c.284G>A (p.Ser95Asn) SNV Uncertain significance 1011373 GRCh37: 10:97987243-97987243
GRCh38: 10:96227487-96227487
8 BLNK NM_013314.4(BLNK):c.646A>G (p.Thr216Ala) SNV Uncertain significance 1013812 GRCh37: 10:97975107-97975107
GRCh38: 10:96215351-96215351
9 BLNK NM_013314.4(BLNK):c.328C>G (p.Pro110Ala) SNV Uncertain significance 1016106 GRCh37: 10:97987199-97987199
GRCh38: 10:96227443-96227443
10 BLNK NM_013314.4(BLNK):c.434A>G (p.Glu145Gly) SNV Uncertain significance 1022366 GRCh37: 10:97983673-97983673
GRCh38: 10:96223917-96223917
11 BLNK NM_013314.4(BLNK):c.377A>G (p.Gln126Arg) SNV Uncertain significance 1024554 GRCh37: 10:97983730-97983730
GRCh38: 10:96223974-96223974
12 BLNK NM_013314.4(BLNK):c.201C>G (p.Asp67Glu) SNV Uncertain significance 1026824 GRCh37: 10:97990553-97990553
GRCh38: 10:96230797-96230797
13 BLNK NM_013314.4(BLNK):c.205-15C>T SNV Uncertain significance 1031777 GRCh37: 10:97987337-97987337
GRCh38: 10:96227581-96227581
14 BLNK NM_013314.4(BLNK):c.509G>A (p.Gly170Asp) SNV Uncertain significance 1043293 GRCh37: 10:97983598-97983598
GRCh38: 10:96223842-96223842
15 BLNK , ZNF518A NM_013314.4(BLNK):c.970C>T (p.Pro324Ser) SNV Uncertain significance 1044681 GRCh37: 10:97960779-97960779
GRCh38: 10:96201023-96201023
16 BLNK NM_013314.4(BLNK):c.191G>C (p.Trp64Ser) SNV Uncertain significance 1044686 GRCh37: 10:97990563-97990563
GRCh38: 10:96230807-96230807
17 BLNK NM_013314.4(BLNK):c.34A>T (p.Ser12Cys) SNV Uncertain significance 1052961 GRCh37: 10:98031122-98031122
GRCh38: 10:96271365-96271365
18 BLNK , ZNF518A NM_013314.4(BLNK):c.1244G>C (p.Gly415Ala) SNV Uncertain significance 1055900 GRCh37: 10:97956671-97956671
GRCh38: 10:96196915-96196915
19 BLNK NM_013314.4(BLNK):c.275C>A (p.Ala92Asp) SNV Uncertain significance 1057046 GRCh37: 10:97987252-97987252
GRCh38: 10:96227496-96227496
20 BLNK , ZNF518A NM_013314.4(BLNK):c.1098T>G (p.Asp366Glu) SNV Uncertain significance 1059928 GRCh37: 10:97956817-97956817
GRCh38: 10:96197061-96197061
21 overlap with 8 genes NC_000010.10:g.(?_97366499)_(98031175_?)dup Duplication Uncertain significance 1062671 GRCh37: 10:97366499-98031175
GRCh38:
22 BLNK NM_013314.4(BLNK):c.463G>T (p.Ala155Ser) SNV Uncertain significance 1057936 GRCh37: 10:97983644-97983644
GRCh38: 10:96223888-96223888
23 BLNK , ZNF518A NM_013314.4(BLNK):c.829C>T (p.Pro277Ser) SNV Uncertain significance 835245 GRCh37: 10:97964361-97964361
GRCh38: 10:96204605-96204605
24 BLNK NM_013314.4(BLNK):c.265G>A (p.Glu89Lys) SNV Uncertain significance 837542 GRCh37: 10:97987262-97987262
GRCh38: 10:96227506-96227506
25 BLNK NM_013314.4(BLNK):c.45G>C (p.Leu15Phe) SNV Uncertain significance 837684 GRCh37: 10:98031111-98031111
GRCh38: 10:96271354-96271354
26 BLNK NM_013314.4(BLNK):c.94A>T (p.Ile32Leu) SNV Uncertain significance 839862 GRCh37: 10:98006759-98006759
GRCh38: 10:96247003-96247003
27 BLNK NM_013314.4(BLNK):c.293C>T (p.Pro98Leu) SNV Uncertain significance 839970 GRCh37: 10:97987234-97987234
GRCh38: 10:96227478-96227478
28 BLNK NM_013314.4(BLNK):c.460C>G (p.Pro154Ala) SNV Uncertain significance 845659 GRCh37: 10:97983647-97983647
GRCh38: 10:96223891-96223891
29 BLNK NM_013314.4(BLNK):c.746G>A (p.Gly249Glu) SNV Uncertain significance 846917 GRCh37: 10:97969594-97969594
GRCh38: 10:96209838-96209838
30 BLNK , ZNF518A NM_013314.4(BLNK):c.1106T>A (p.Phe369Tyr) SNV Uncertain significance 854980 GRCh37: 10:97956809-97956809
GRCh38: 10:96197053-96197053
31 BLNK NM_013314.4(BLNK):c.206A>G (p.Asp69Gly) SNV Uncertain significance 855440 GRCh37: 10:97987321-97987321
GRCh38: 10:96227565-96227565
32 BLNK NM_013314.4(BLNK):c.611C>A (p.Pro204His) SNV Uncertain significance 856791 GRCh37: 10:97975142-97975142
GRCh38: 10:96215386-96215386
33 BLNK , ZNF518A NM_013314.4(BLNK):c.926C>A (p.Pro309His) SNV Uncertain significance 858725 GRCh37: 10:97963821-97963821
GRCh38: 10:96204065-96204065
34 BLNK NM_013314.4(BLNK):c.596C>T (p.Pro199Leu) SNV Uncertain significance 860549 GRCh37: 10:97976420-97976420
GRCh38: 10:96216664-96216664
35 BLNK NM_013314.4(BLNK):c.817+6A>G SNV Uncertain significance 944193 GRCh37: 10:97966761-97966761
GRCh38: 10:96207005-96207005
36 BLNK NM_013314.4(BLNK):c.616G>A (p.Val206Met) SNV Uncertain significance 946915 GRCh37: 10:97975137-97975137
GRCh38: 10:96215381-96215381
37 BLNK NM_013314.4(BLNK):c.544G>A (p.Val182Met) SNV Uncertain significance 947837 GRCh37: 10:97976472-97976472
GRCh38: 10:96216716-96216716
38 BLNK NM_013314.4(BLNK):c.249G>A (p.Met83Ile) SNV Uncertain significance 948242 GRCh37: 10:97987278-97987278
GRCh38: 10:96227522-96227522
39 BLNK NM_013314.4(BLNK):c.527C>T (p.Ala176Val) SNV Uncertain significance 958224 GRCh37: 10:97976489-97976489
GRCh38: 10:96216733-96216733
40 BLNK , ZNF518A NM_013314.4(BLNK):c.1033C>T (p.Pro345Ser) SNV Uncertain significance 966331 GRCh37: 10:97959893-97959893
GRCh38: 10:96200137-96200137
41 BLNK NM_013314.4(BLNK):c.607+5G>C SNV Uncertain significance 972582 GRCh37: 10:97976404-97976404
GRCh38: 10:96216648-96216648
42 BLNK NM_013314.3(BLNK):c.88G>C (p.Gly30Arg) SNV Uncertain significance 538834 rs143109144 GRCh37: 10:98006765-98006765
GRCh38: 10:96247009-96247009
43 BLNK NM_013314.3(BLNK):c.335T>C (p.Leu112Pro) SNV Uncertain significance 565951 rs1434331471 GRCh37: 10:97987192-97987192
GRCh38: 10:96227436-96227436
44 BLNK , ZNF518A NM_013314.3(BLNK):c.1021G>A (p.Val341Ile) SNV Uncertain significance 568111 rs144826995 GRCh37: 10:97959905-97959905
GRCh38: 10:96200149-96200149
45 BLNK , ZNF518A NM_013314.3(BLNK):c.926C>T (p.Pro309Leu) SNV Uncertain significance 439436 rs1177361907 GRCh37: 10:97963821-97963821
GRCh38: 10:96204065-96204065
46 BLNK NM_013314.3(BLNK):c.178G>A (p.Glu60Lys) SNV Uncertain significance 573503 rs148249957 GRCh37: 10:97990576-97990576
GRCh38: 10:96230820-96230820
47 BLNK NM_013314.3(BLNK):c.254T>C (p.Val85Ala) SNV Uncertain significance 575592 rs587702260 GRCh37: 10:97987273-97987273
GRCh38: 10:96227517-96227517
48 BLNK NM_013314.3(BLNK):c.652G>A (p.Ala218Thr) SNV Uncertain significance 583253 rs375608442 GRCh37: 10:97975101-97975101
GRCh38: 10:96215345-96215345
49 BLNK NC_000010.10:g.(?_97951709)_(98031175_?)dup Duplication Uncertain significance 583685 GRCh37: 10:97951709-98031175
GRCh38:
50 BLNK NM_013314.3(BLNK):c.807T>G (p.Ser269Arg) SNV Uncertain significance 639117 rs374762276 GRCh37: 10:97966777-97966777
GRCh38: 10:96207021-96207021

Expression for Agammaglobulinemia 4, Autosomal Recessive

Search GEO for disease gene expression data for Agammaglobulinemia 4, Autosomal Recessive.

Pathways for Agammaglobulinemia 4, Autosomal Recessive

Pathways related to Agammaglobulinemia 4, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.63 SYK NCK1 LCP2 FCN3 CD79B BLNK
2
Show member pathways
13.29 SYK NCK1 LCP2 CD79B BLNK
3
Show member pathways
13.05 SYK NCK1 LCP2 CD79B BLNK
4
Show member pathways
12.69 SYK LCP2 CD79B BLNK
5
Show member pathways
12.43 SYK CD79B BLNK
6
Show member pathways
12.34 SYK NCK1 CD79B BLNK
7
Show member pathways
12.29 SYK LCP2 BLNK
8
Show member pathways
12.23 SYK LCP2 CD79B BLNK
9
Show member pathways
12.15 SYK LCP2 CD79B BLNK
10
Show member pathways
12.11 SYK NCK1 LCP2
11
Show member pathways
12.09 SYK LCP2 CD79B BLNK
12 11.97 SYK NCK1 LCP2 BLNK
13 11.78 SYK NCK1 LCP2
14
Show member pathways
11.65 SYK NCK1 CD79B BLNK
15
Show member pathways
11.62 NCK1 LCP2
16 11.58 SYK BLNK
17 11.4 SYK LCP2
18
Show member pathways
11.05 SYK NCK1 LCP2 CD79B BLNK
19 10.71 SYK BLNK

GO Terms for Agammaglobulinemia 4, Autosomal Recessive

Cellular components related to Agammaglobulinemia 4, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 B cell receptor complex GO:0019815 8.62 SYK CD79B

Biological processes related to Agammaglobulinemia 4, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular signal transduction GO:0035556 9.43 SYK LCP2 BLNK
2 B cell differentiation GO:0030183 9.16 CD79B BLNK
3 B cell receptor signaling pathway GO:0050853 9.13 SYK CD79B BLNK
4 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 8.8 SYK LCP2 BLNK

Molecular functions related to Agammaglobulinemia 4, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SH2 domain binding GO:0042169 8.96 SYK BLNK
2 signaling adaptor activity GO:0035591 8.62 NCK1 BLNK

Sources for Agammaglobulinemia 4, Autosomal Recessive

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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