AGM8
MCID: AGM017
MIFTS: 20

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 56 73 29 6
Agammaglobulinemia, Autosomal Dominant, Due to Tcf3 Defect 56 73
Agm8 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
agammaglobulinemia 8, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 56 616941
OMIM Phenotypic Series 56 PS601495
MeSH 43 D000361
SNOMED-CT via HPO 68 119249001 263681008

Summaries for Agammaglobulinemia 8, Autosomal Dominant

UniProtKB/Swiss-Prot : 73 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

More information from OMIM: 616941 PS601495

Related Diseases for Agammaglobulinemia 8, Autosomal Dominant

Symptoms & Phenotypes for Agammaglobulinemia 8, Autosomal Dominant

Human phenotypes related to Agammaglobulinemia 8, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 31 very rare (1%) HP:0000403
2 agammaglobulinemia 31 HP:0004432
3 b lymphocytopenia 31 HP:0010976

Symptoms via clinical synopsis from OMIM:

56
Immunology:
agammaglobulinemia
recurrent infections
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

Genetic tests related to Agammaglobulinemia 8, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Agammaglobulinemia 8, Autosomal Dominant 29 TCF3

Anatomical Context for Agammaglobulinemia 8, Autosomal Dominant

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

40
B Cells

Publications for Agammaglobulinemia 8, Autosomal Dominant

Articles related to Agammaglobulinemia 8, Autosomal Dominant:

# Title Authors PMID Year
1
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells. 6 56
24216514 2013
2
Agammaglobulinemia associated with BCR⁻ B cells and enhanced expression of CD19. 56 6
21693761 2011
3
The helix-loop-helix gene E2A is required for B cell formation. 56
8001124 1994
4
E2A proteins are required for proper B cell development and initiation of immunoglobulin gene rearrangements. 56
8001125 1994
5
Constitutive expression of the Id1 gene impairs mouse B cell development. 56
8001126 1994

Variations for Agammaglobulinemia 8, Autosomal Dominant

ClinVar genetic disease variations for Agammaglobulinemia 8, Autosomal Dominant:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCF3 NM_003200.5(TCF3):c.1823-508G>ASNV Pathogenic 225870 rs879255271 19:1612356-1612356 19:1612357-1612357
2 TCF3 NM_003200.5(TCF3):c.307G>A (p.Gly103Ser)SNV Conflicting interpretations of pathogenicity 730318 19:1627417-1627417 19:1627418-1627418
3 TCF3 NM_003200.5(TCF3):c.23C>T (p.Ala8Val)SNV Uncertain significance 811326 19:1650225-1650225 19:1650226-1650226
4 TCF3 NM_003200.5(TCF3):c.1823-416G>ASNV Uncertain significance 626182 rs1568312916 19:1612264-1612264 19:1612265-1612265
5 TCF3 NM_003200.5(TCF3):c.229G>A (p.Glu77Lys)SNV Uncertain significance 626027 rs138963927 19:1632106-1632106 19:1632107-1632107
6 TCF3 NM_003200.5(TCF3):c.879_881CTC[1] (p.Ser295del)short repeat Likely benign 714562 19:1621908-1621910 19:1621909-1621911
7 TCF3 NM_003200.5(TCF3):c.1806G>A (p.Leu602=)SNV Likely benign 812052 19:1615300-1615300 19:1615301-1615301
8 TCF3 NM_003200.5(TCF3):c.888C>T (p.Ala296=)SNV Benign/Likely benign 724921 19:1621904-1621904 19:1621905-1621905
9 TCF3 NM_003200.5(TCF3):c.302A>G (p.Lys101Arg)SNV Benign 810990 19:1627422-1627422 19:1627423-1627423

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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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43 MeSH
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53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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