Agammaglobulinemia (IGHM)

Alias:
Hypogammaglobulinemia
Mu Heavy Chain Deficiency
Mu-Heavy Chain Disease
Mu-Chain Disease
Mu-Hcd
Ighm
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Agammaglobulinemia, also known as hypogammaglobulinemia, is related to agammaglobulinemia 1, autosomal recessive and agammaglobulinemia 4, autosomal recessive. An important gene associated with Agammaglobulinemia is BTK (Bruton Tyrosine Kinase), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. The drugs Immunoglobulin G and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and bone, and related phenotypes are splenomegaly and abnormal b cell count
Related ID:
MESH:D000361
ICD11:963887455

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Adult
1-9/1000000
36
467
1

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top