AGM5
MCID: AGM024
MIFTS: 17

Agammaglobulinemia 5, Autosomal Dominant (AGM5)

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

Aliases & Classifications for Agammaglobulinemia 5, Autosomal Dominant

MalaCards integrated aliases for Agammaglobulinemia 5, Autosomal Dominant:

Name: Agammaglobulinemia 5, Autosomal Dominant 58 76 30 6 74
Agammaglobulinemia 5 58 13
Agm5 58 76
Agammaglobulinemia, Autosomal Dominant, Due to Lrrc8a Defect 58
Agammaglobulinemia Autosomal Dominant Due to Lrrc8a Defect 76
Agammaglobulinemia, Type 5, Autosomal Dominant 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
agammaglobulinemia 5, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613506
MeSH 45 D000361
MedGen 43 C3150753
UMLS 74 C3150753

Summaries for Agammaglobulinemia 5, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 Agammaglobulinemia 5, autosomal dominant: 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 5, Autosomal Dominant, is also known as agammaglobulinemia 5. An important gene associated with Agammaglobulinemia 5, Autosomal Dominant is LRRC8A (Leucine Rich Repeat Containing 8 VRAC Subunit A). Affiliated tissues include b cells, and related phenotypes are hypertelorism and low-set ears

Description from OMIM: 613506

Related Diseases for Agammaglobulinemia 5, Autosomal Dominant

Symptoms & Phenotypes for Agammaglobulinemia 5, Autosomal Dominant

Human phenotypes related to Agammaglobulinemia 5, Autosomal Dominant:

33
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 HP:0000316
2 low-set ears 33 HP:0000369
3 high palate 33 HP:0000218
4 epicanthus 33 HP:0000286
5 agammaglobulinemia 33 HP:0004432

Clinical features from OMIM:

613506

Drugs & Therapeutics for Agammaglobulinemia 5, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Agammaglobulinemia 5, Autosomal Dominant

Genetic Tests for Agammaglobulinemia 5, Autosomal Dominant

Genetic tests related to Agammaglobulinemia 5, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Agammaglobulinemia 5, Autosomal Dominant 30 LRRC8A

Anatomical Context for Agammaglobulinemia 5, Autosomal Dominant

MalaCards organs/tissues related to Agammaglobulinemia 5, Autosomal Dominant:

42
B Cells

Publications for Agammaglobulinemia 5, Autosomal Dominant

Variations for Agammaglobulinemia 5, Autosomal Dominant

ClinVar genetic disease variations for Agammaglobulinemia 5, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LRRC8A LRRC8A, 1-BP INS, 2681T, TRANSLOCATION 20 insertion Pathogenic

Expression for Agammaglobulinemia 5, Autosomal Dominant

Search GEO for disease gene expression data for Agammaglobulinemia 5, Autosomal Dominant.

Pathways for Agammaglobulinemia 5, Autosomal Dominant

GO Terms for Agammaglobulinemia 5, Autosomal Dominant

Sources for Agammaglobulinemia 5, 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
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