MCID: AGM023
MIFTS: 20

Agammaglobulinemia 4, Autosomal Recessive

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

Aliases & Classifications for Agammaglobulinemia 4, Autosomal Recessive

MalaCards integrated aliases for Agammaglobulinemia 4, Autosomal Recessive:

Name: Agammaglobulinemia 4, Autosomal Recessive 57 75 29 6 73
Agammaglobulinemia 4 57 13
Agm4 57 75
Agammaglobulinemia, Autosomal Recessive, Due to Blnk Defect 57
Agammaglobulinemia Autosomal Recessive Due to Blnk Defect 75
Agammaglobulinemia, Type 4, Autosomal Recessive 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
agammaglobulinemia 4, autosomal recessive:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Agammaglobulinemia 4, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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, is also known as agammaglobulinemia 4, and has symptoms including diarrhea An important gene associated with Agammaglobulinemia 4, Autosomal Recessive is BLNK (B Cell Linker). Affiliated tissues include b cells and t cells, and related phenotypes are recurrent otitis media and diarrhea

Description from OMIM: 613502

Related Diseases for Agammaglobulinemia 4, Autosomal Recessive

Symptoms & Phenotypes for Agammaglobulinemia 4, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
diarrhea

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

Laboratory Abnormalities:
neutropenia
agammaglobulinemia
hypogammaglobulinemia, profound

Respiratory:
respiratory infections, recurrent

Head And Neck Head:
sinusitis, chronic


Clinical features from OMIM:

613502

Human phenotypes related to Agammaglobulinemia 4, Autosomal Recessive:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 32 HP:0000403
2 diarrhea 32 HP:0002014
3 neutropenia 32 HP:0001875
4 agammaglobulinemia 32 HP:0004432
5 recurrent pneumonia 32 HP:0006532
6 recurrent bacterial infections 32 HP:0002718
7 chronic sinusitis 32 HP:0011109

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:

41
B Cells, T Cells

Publications for Agammaglobulinemia 4, Autosomal Recessive

Variations for Agammaglobulinemia 4, Autosomal Recessive

ClinVar genetic disease variations for Agammaglobulinemia 4, Autosomal Recessive:

6
(show all 27)
# Gene Variation Type Significance SNP ID Assembly Location
1 BLNK BLNK, IVS1DS, A-T, +3 single nucleotide variant Pathogenic
2 BLNK NM_013314.3(BLNK): c.472G> T (p.Ala158Ser) single nucleotide variant Benign/Likely benign rs148612299 GRCh38 Chromosome 10, 96223879: 96223879
3 BLNK NM_013314.3(BLNK): c.472G> T (p.Ala158Ser) single nucleotide variant Benign/Likely benign rs148612299 GRCh37 Chromosome 10, 97983635: 97983635
4 BLNK NM_013314.3(BLNK): c.923T> C (p.Ile308Thr) single nucleotide variant Likely benign rs144266674 GRCh37 Chromosome 10, 97963824: 97963824
5 BLNK NM_013314.3(BLNK): c.923T> C (p.Ile308Thr) single nucleotide variant Likely benign rs144266674 GRCh38 Chromosome 10, 96204068: 96204068
6 BLNK NM_013314.3(BLNK): c.262G> A (p.Ala88Thr) single nucleotide variant Benign rs144903484 GRCh37 Chromosome 10, 97987265: 97987265
7 BLNK NM_013314.3(BLNK): c.262G> A (p.Ala88Thr) single nucleotide variant Benign rs144903484 GRCh38 Chromosome 10, 96227509: 96227509
8 BLNK NM_013314.3(BLNK): c.526-5G> C single nucleotide variant Benign rs17111459 GRCh37 Chromosome 10, 97976495: 97976495
9 BLNK NM_013314.3(BLNK): c.526-5G> C single nucleotide variant Benign rs17111459 GRCh38 Chromosome 10, 96216739: 96216739
10 BLNK NM_013314.3(BLNK): c.48G> A (p.Arg16=) single nucleotide variant Benign rs11540858 GRCh37 Chromosome 10, 98006805: 98006805
11 BLNK NM_013314.3(BLNK): c.48G> A (p.Arg16=) single nucleotide variant Benign rs11540858 GRCh38 Chromosome 10, 96247049: 96247049
12 BLNK NM_013314.3(BLNK): c.270G> A (p.Glu90=) single nucleotide variant Benign rs17111469 GRCh37 Chromosome 10, 97987257: 97987257
13 BLNK NM_013314.3(BLNK): c.270G> A (p.Glu90=) single nucleotide variant Benign rs17111469 GRCh38 Chromosome 10, 96227501: 96227501
14 BLNK NM_013314.3(BLNK): c.195C> T (p.Ser65=) single nucleotide variant Benign rs12261820 GRCh38 Chromosome 10, 96230803: 96230803
15 BLNK NM_013314.3(BLNK): c.195C> T (p.Ser65=) single nucleotide variant Benign rs12261820 GRCh37 Chromosome 10, 97990559: 97990559
16 BLNK NM_013314.3(BLNK): c.957A> C (p.Pro319=) single nucleotide variant Likely benign rs149590334 GRCh37 Chromosome 10, 97960792: 97960792
17 BLNK NM_013314.3(BLNK): c.957A> C (p.Pro319=) single nucleotide variant Likely benign rs149590334 GRCh38 Chromosome 10, 96201036: 96201036
18 BLNK NM_013314.3(BLNK): c.780A> G (p.Pro260=) single nucleotide variant Likely benign GRCh37 Chromosome 10, 97966804: 97966804
19 BLNK NM_013314.3(BLNK): c.780A> G (p.Pro260=) single nucleotide variant Likely benign GRCh38 Chromosome 10, 96207048: 96207048
20 BLNK NM_013314.3(BLNK): c.321G> A (p.Pro107=) single nucleotide variant Likely benign rs782386441 GRCh38 Chromosome 10, 96227450: 96227450
21 BLNK NM_013314.3(BLNK): c.321G> A (p.Pro107=) single nucleotide variant Likely benign rs782386441 GRCh37 Chromosome 10, 97987206: 97987206
22 BLNK NM_013314.3(BLNK): c.88G> C (p.Gly30Arg) single nucleotide variant Uncertain significance rs143109144 GRCh38 Chromosome 10, 96247009: 96247009
23 BLNK NM_013314.3(BLNK): c.88G> C (p.Gly30Arg) single nucleotide variant Uncertain significance rs143109144 GRCh37 Chromosome 10, 98006765: 98006765
24 BLNK NM_013314.3(BLNK): c.648G> A (p.Thr216=) single nucleotide variant Likely benign rs782356586 GRCh37 Chromosome 10, 97975105: 97975105
25 BLNK NM_013314.3(BLNK): c.648G> A (p.Thr216=) single nucleotide variant Likely benign rs782356586 GRCh38 Chromosome 10, 96215349: 96215349
26 BLNK NM_013314.3(BLNK): c.114delG (p.Lys38Asnfs) deletion Pathogenic GRCh37 Chromosome 10, 98002540: 98002540
27 BLNK NM_013314.3(BLNK): c.114delG (p.Lys38Asnfs) deletion Pathogenic GRCh38 Chromosome 10, 96242784: 96242784

Expression for Agammaglobulinemia 4, Autosomal Recessive

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

Pathways for Agammaglobulinemia 4, Autosomal Recessive

GO Terms for Agammaglobulinemia 4, Autosomal Recessive

Sources for Agammaglobulinemia 4, Autosomal Recessive

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