AGM8
MCID: AGM017
MIFTS: 15

Agammaglobulinemia 8, Autosomal Dominant (AGM8)

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

Aliases & Classifications for Agammaglobulinemia 8, Autosomal Dominant

MalaCards integrated aliases for Agammaglobulinemia 8, Autosomal Dominant:

Name: Agammaglobulinemia 8, Autosomal Dominant 58 76 6
Agammaglobulinemia, Autosomal Dominant, Due to Tcf3 Defect 58 76
Agm8 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
four unrelated patients have been reported (last curated may 2016)


HPO:

33
agammaglobulinemia 8, autosomal dominant:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 616941
MeSH 45 D000361
SNOMED-CT via HPO 70 119249001 263681008

Summaries for Agammaglobulinemia 8, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 Agammaglobulinemia 8, autosomal dominant: A form of agammaglobulinemia, 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 8, Autosomal Dominant, is also known as agammaglobulinemia, autosomal dominant, due to tcf3 defect. An important gene associated with Agammaglobulinemia 8, Autosomal Dominant is TCF3 (Transcription Factor 3). Affiliated tissues include b cells, and related phenotypes are recurrent otitis media and agammaglobulinemia

Description from OMIM: 616941

Related Diseases for Agammaglobulinemia 8, Autosomal Dominant

Symptoms & Phenotypes for Agammaglobulinemia 8, Autosomal Dominant

Human phenotypes related to Agammaglobulinemia 8, Autosomal Dominant:

33
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 33 very rare (1%) HP:0000403
2 agammaglobulinemia 33 HP:0004432
3 b lymphocytopenia 33 HP:0010976

Symptoms via clinical synopsis from OMIM:

58
Immunology:
recurrent infections
agammaglobulinemia
decreased circulating b cells
b cells show intense cd19 immunostaining
b cells lack the b-cell receptor

Clinical features from OMIM:

616941

Drugs & Therapeutics for Agammaglobulinemia 8, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Agammaglobulinemia 8, Autosomal Dominant

Genetic Tests for Agammaglobulinemia 8, Autosomal Dominant

Anatomical Context for Agammaglobulinemia 8, Autosomal Dominant

MalaCards organs/tissues related to Agammaglobulinemia 8, Autosomal Dominant:

42
B Cells

Publications for Agammaglobulinemia 8, Autosomal Dominant

Variations for Agammaglobulinemia 8, Autosomal Dominant

ClinVar genetic disease variations for Agammaglobulinemia 8, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TCF3 NM_001136139.2(TCF3): c.1663G> A (p.Glu555Lys) single nucleotide variant Pathogenic rs879255271 GRCh37 Chromosome 19, 1612356: 1612356
2 TCF3 NM_001136139.2(TCF3): c.1663G> A (p.Glu555Lys) single nucleotide variant Pathogenic rs879255271 GRCh38 Chromosome 19, 1612357: 1612357

Expression for Agammaglobulinemia 8, Autosomal Dominant

Search GEO for disease gene expression data for Agammaglobulinemia 8, Autosomal Dominant.

Pathways for Agammaglobulinemia 8, Autosomal Dominant

GO Terms for Agammaglobulinemia 8, Autosomal Dominant

Sources for Agammaglobulinemia 8, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....