AGM5
MCID: AGM024
MIFTS: 20

Agammaglobulinemia 5, Autosomal Dominant (AGM5)

Categories: Blood diseases, Cardiovascular 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 72 29 6 70
Agammaglobulinemia 5 57 12 13
Agm5 57 72
Agammaglobulinemia, Autosomal Dominant, Due to Lrrc8a Defect 57
Agammaglobulinemia Autosomal Dominant Due to Lrrc8a Defect 72
Agammaglobulinemia, Type 5, Autosomal Dominant 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
agammaglobulinemia 5, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080588
OMIM® 57 613506
OMIM Phenotypic Series 57 PS601495
MeSH 44 D000361
MedGen 41 C3150753
UMLS 70 C3150753

Summaries for Agammaglobulinemia 5, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 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 high palate and hypertelorism

Disease Ontology : 12 An agammaglobulinemia that has material basis in heterozygous mutation in the LRRC8A gene on chromosome 9q34.

More information from OMIM: 613506 PS601495

Related Diseases for Agammaglobulinemia 5, Autosomal Dominant

Symptoms & Phenotypes for Agammaglobulinemia 5, Autosomal Dominant

Human phenotypes related to Agammaglobulinemia 5, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 hypertelorism 31 HP:0000316
3 low-set ears 31 HP:0000369
4 epicanthus 31 HP:0000286
5 agammaglobulinemia 31 HP:0004432

Clinical features from OMIM®:

613506 (Updated 20-May-2021)

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:

40
B Cells

Publications for Agammaglobulinemia 5, Autosomal Dominant

Articles related to Agammaglobulinemia 5, Autosomal Dominant:

# Title Authors PMID Year
1
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans. 57 6
14660746 2003

Variations for Agammaglobulinemia 5, Autosomal Dominant

ClinVar genetic disease variations for Agammaglobulinemia 5, Autosomal Dominant:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRRC8A LRRC8A, 1-BP INS, 2681T, TRANSLOCATION 20 Insertion Pathogenic 2374 GRCh37:
GRCh38:
2 LRRC8A NM_019594.4(LRRC8A):c.2267del (p.Leu756fs) Deletion Uncertain significance 1028633 GRCh37: 9:131678484-131678484
GRCh38: 9:128916205-128916205
3 LRRC8A NM_019594.3(LRRC8A):c.203C>T (p.Ser68Leu) SNV Likely benign 801365 rs147311433 GRCh37: 9:131669646-131669646
GRCh38: 9:128907367-128907367
4 LRRC8A NM_019594.3(LRRC8A):c.1586C>T (p.Ala529Val) SNV Likely benign 801366 rs150164316 GRCh37: 9:131671029-131671029
GRCh38: 9:128908750-128908750
5 LRRC8A NM_019594.3(LRRC8A):c.1699G>A (p.Val567Met) SNV Likely benign 439872 rs143836544 GRCh37: 9:131671142-131671142
GRCh38: 9:128908863-128908863
6 LRRC8A NM_019594.3(LRRC8A):c.2118C>G (p.Leu706=) SNV Benign 810955 rs35266233 GRCh37: 9:131671561-131671561
GRCh38: 9:128909282-128909282
7 LRRC8A NM_019594.3(LRRC8A):c.51C>T (p.Tyr17=) SNV Benign 716394 rs16930745 GRCh37: 9:131669494-131669494
GRCh38: 9:128907215-128907215
8 LRRC8A NM_019594.3(LRRC8A):c.1458C>T (p.Pro486=) SNV Benign 776451 rs11999276 GRCh37: 9:131670901-131670901
GRCh38: 9:128908622-128908622
9 LRRC8A NM_019594.3(LRRC8A):c.1803T>C (p.Cys601=) SNV Benign 776452 rs16930757 GRCh37: 9:131671246-131671246
GRCh38: 9:128908967-128908967
10 LRRC8A NM_019594.3(LRRC8A):c.774C>T (p.Asp258=) SNV Benign 439874 rs41275930 GRCh37: 9:131670217-131670217
GRCh38: 9:128907938-128907938
11 LRRC8A NM_019594.3(LRRC8A):c.1509C>T (p.Thr503=) SNV Benign 439873 rs3750318 GRCh37: 9:131670952-131670952
GRCh38: 9:128908673-128908673

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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