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 57 75 6
Agammaglobulinemia, Autosomal Dominant, Due to Tcf3 Defect 57 75
Agm8 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
agammaglobulinemia 8, autosomal dominant:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 616941
MeSH 44 D000361
SNOMED-CT via HPO 69 263681008 119249001

Summaries for Agammaglobulinemia 8, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Agammaglobulinemia 8, Autosomal Dominant:

32
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 32 very rare (1%) HP:0000403
2 agammaglobulinemia 32 HP:0004432
3 b lymphocytopenia 32 HP:0010976

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:

41
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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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