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 57 75 29 6 73
Agammaglobulinemia 5 57 13
Agm5 57 75
Agammaglobulinemia, Autosomal Dominant, Due to Lrrc8a Defect 57
Agammaglobulinemia Autosomal Dominant Due to Lrrc8a Defect 75
Agammaglobulinemia, Type 5, Autosomal Dominant 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
agammaglobulinemia 5, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613506
MedGen 42 C3150753
MeSH 44 D000361
UMLS 73 C3150753

Summaries for Agammaglobulinemia 5, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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

Clinical features from OMIM:

613506

Human phenotypes related to Agammaglobulinemia 5, Autosomal Dominant:

32
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 high palate 32 HP:0000218
4 epicanthus 32 HP:0000286
5 agammaglobulinemia 32 HP:0004432

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 29 LRRC8A

Anatomical Context for Agammaglobulinemia 5, Autosomal Dominant

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

41
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 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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