XLA2
MCID: AGM018
MIFTS: 20

Agammaglobulinemia, X-Linked, Type 2 (XLA2)

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

Aliases & Classifications for Agammaglobulinemia, X-Linked, Type 2

MalaCards integrated aliases for Agammaglobulinemia, X-Linked, Type 2:

Name: Agammaglobulinemia, X-Linked, Type 2 58 74
Agammaglobulinemia, X-Linked 2 58 13
Agmx2 58 54
Xla2 58 54
Agammaglobulinemia X-Linked Type 2 54

Characteristics:

OMIM:

58
Inheritance:
x-linked
also other types


HPO:

33
agammaglobulinemia, x-linked, type 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 58 300310
MedGen 43 C1845903
UMLS 74 C1845903

Summaries for Agammaglobulinemia, X-Linked, Type 2

MalaCards based summary : Agammaglobulinemia, X-Linked, Type 2, also known as agammaglobulinemia, x-linked 2, is related to agammaglobulinemia, x-linked and perrault syndrome 1. An important gene associated with Agammaglobulinemia, X-Linked, Type 2 is AGMX2 (Agammaglobulinemia, X-Linked 2 (With Growth Hormone Deficiency)). Affiliated tissues include colon, bone and t cells, and related phenotypes are arthritis and malabsorption

Description from OMIM: 300310

Related Diseases for Agammaglobulinemia, X-Linked, Type 2

Diseases in the Agammaglobulinemia, X-Linked family:

Agammaglobulinemia, X-Linked, Type 2

Diseases related to Agammaglobulinemia, X-Linked, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 agammaglobulinemia, x-linked 11.2
2 perrault syndrome 1 11.1

Symptoms & Phenotypes for Agammaglobulinemia, X-Linked, Type 2

Human phenotypes related to Agammaglobulinemia, X-Linked, Type 2:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 arthritis 33 HP:0001369
2 malabsorption 33 HP:0002024
3 colon cancer 33 HP:0003003
4 agammaglobulinemia 33 HP:0004432
5 recurrent bacterial infections 33 HP:0002718
6 episodic fever 33 HP:0001954
7 frequent giardia lamblia infestation 33 HP:0005215

Symptoms via clinical synopsis from OMIM:

58
G I:
malabsorption
frequent giardia lamblia infestation
frequent campylobacter jejuni and salmonella infection

Misc:
recurrent fever

Joints:
rheumatoid-arthritis-like syndrome

Immunology:
agammaglobulinemia
intact cell-mediated immunity
prone to bacterial infection, but not viral
plasma cells lacking

Oncology:
increased risk of colorectal cancer

Lab:
reduced peripheral blood lymphocyte ecto-5-prime-nucleotidase
no circulating bone marrow-derived (b) lymphocytes
normal progenitor and thymus (t) cells

Clinical features from OMIM:

300310

Drugs & Therapeutics for Agammaglobulinemia, X-Linked, Type 2

Search Clinical Trials , NIH Clinical Center for Agammaglobulinemia, X-Linked, Type 2

Genetic Tests for Agammaglobulinemia, X-Linked, Type 2

Anatomical Context for Agammaglobulinemia, X-Linked, Type 2

MalaCards organs/tissues related to Agammaglobulinemia, X-Linked, Type 2:

42
Colon, Bone, T Cells, Thymus

Publications for Agammaglobulinemia, X-Linked, Type 2

Variations for Agammaglobulinemia, X-Linked, Type 2

Expression for Agammaglobulinemia, X-Linked, Type 2

Search GEO for disease gene expression data for Agammaglobulinemia, X-Linked, Type 2.

Pathways for Agammaglobulinemia, X-Linked, Type 2

GO Terms for Agammaglobulinemia, X-Linked, Type 2

Sources for Agammaglobulinemia, X-Linked, Type 2

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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