AGM8
MCID: AGM017
MIFTS: 21

Agammaglobulinemia 8, Autosomal Dominant (AGM8)

Categories: Blood diseases, Cardiovascular 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 73 29 6
Agammaglobulinemia, Autosomal Dominant, Due to Tcf3 Defect 57 73
Agm8 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 616941
OMIM Phenotypic Series 57 PS601495
MeSH 44 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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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 57
24216514 2013
2
Agammaglobulinemia associated with BCR⁻ B cells and enhanced expression of CD19. 6 57
21693761 2011
3
E2A proteins are required for proper B cell development and initiation of immunoglobulin gene rearrangements. 57
8001125 1994
4
The helix-loop-helix gene E2A is required for B cell formation. 57
8001124 1994
5
Constitutive expression of the Id1 gene impairs mouse B cell development. 57
8001126 1994

Variations for Agammaglobulinemia 8, Autosomal Dominant

ClinVar genetic disease variations for Agammaglobulinemia 8, Autosomal Dominant:

6 (show all 17)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCF3 NM_003200.5(TCF3):c.1823-508G>A SNV Pathogenic 225870 rs879255271 19:1612356-1612356 19:1612357-1612357
2 TCF3 NM_003200.5(TCF3):c.1338_1360del (p.Ser446fs) Deletion Likely pathogenic 982676 19:1619200-1619222 19:1619201-1619223
3 TCF3 NM_003200.5(TCF3):c.473G>A (p.Arg158Gln) SNV Uncertain significance 973674 19:1625601-1625601 19:1625602-1625602
4 TCF3 NM_003200.5(TCF3):c.229G>A (p.Glu77Lys) SNV Uncertain significance 626027 rs138963927 19:1632106-1632106 19:1632107-1632107
5 TCF3 NM_003200.5(TCF3):c.1823-416G>A SNV Uncertain significance 626182 rs1568312916 19:1612264-1612264 19:1612265-1612265
6 TCF3 NM_003200.5(TCF3):c.23C>T (p.Ala8Val) SNV Uncertain significance 811326 rs376780559 19:1650225-1650225 19:1650226-1650226
7 TCF3 NM_003200.5(TCF3):c.307G>A (p.Gly103Ser) SNV Uncertain significance 730318 rs201841190 19:1627417-1627417 19:1627418-1627418
8 TCF3 NM_003200.5(TCF3):c.879CTC[1] (p.Ser295del) Microsatellite Likely benign 714562 rs550914200 19:1621908-1621910 19:1621909-1621911
9 TCF3 NM_003200.5(TCF3):c.1806G>A (p.Leu602=) SNV Likely benign 812052 rs1376446279 19:1615300-1615300 19:1615301-1615301
10 TCF3 NM_003200.5(TCF3):c.888C>T (p.Ala296=) SNV Likely benign 724921 rs34203855 19:1621904-1621904 19:1621905-1621905
11 TCF3 NM_003200.5(TCF3):c.302A>G (p.Lys101Arg) SNV Benign 810990 rs41275842 19:1627422-1627422 19:1627423-1627423
12 TCF3 NM_003200.5(TCF3):c.1713G>A (p.Glu571=) SNV Benign 717103 rs143212973 19:1615393-1615393 19:1615394-1615394
13 TCF3 NM_003200.5(TCF3):c.1539C>G (p.His513Gln) SNV Benign 790195 rs115383004 19:1615732-1615732 19:1615733-1615733
14 TCF3 NM_003200.5(TCF3):c.1062T>C (p.Ser354=) SNV Benign 993761 19:1620998-1620998 19:1620999-1620999
15 TCF3 NM_003200.5(TCF3):c.592A>G (p.Thr198Ala) SNV Benign 777354 rs11879402 19:1622372-1622372 19:1622373-1622373
16 TCF3 NM_003200.5(TCF3):c.558A>G (p.Pro186=) SNV Benign 777355 rs11879412 19:1622406-1622406 19:1622407-1622407
17 TCF3 NM_003200.5(TCF3):c.359T>C (p.Leu120Pro) SNV Benign 993939 19:1627365-1627365 19:1627366-1627366

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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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