XLA2
MCID: AGM018
MIFTS: 21

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 57 73
Agammaglobulinemia, X-Linked 2 57 13
Agmx2 57 53
Xla2 57 53
Agammaglobulinemia X-Linked Type 2 53

Characteristics:

OMIM:

57
Inheritance:
x-linked
also other types


HPO:

32
agammaglobulinemia, x-linked, type 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 300310
MedGen 42 C1845903
UMLS 73 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 agammaglobulinemia. An important gene associated with Agammaglobulinemia, X-Linked, Type 2 is AGMX2 (Agammaglobulinemia, X-Linked 2 (With Growth Hormone Deficiency)). Affiliated tissues include skin, bone and colon, 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 agammaglobulinemia 11.2
3 perrault syndrome 1 11.1

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 arthritis 32 HP:0001369
2 malabsorption 32 HP:0002024
3 colon cancer 32 HP:0003003
4 agammaglobulinemia 32 HP:0004432
5 recurrent bacterial infections 32 HP:0002718
6 episodic fever 32 HP:0001954
7 frequent giardia lamblia infestation 32 HP:0005215

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:

41
Skin, Bone, Colon, 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 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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