Immunodeficiency Due to Defect in Mapbp-Interacting Protein (ID-MAPBPIP)

Alias:
Primary Immunodeficiency Syndrome Due to P14 Deficiency
Primary Immunodeficiency Syndrome Due to Lamtor2 Deficiency
Primary Immunodeficiency Syndrome with Short Stature
Id-Mapbpip
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency Due to Defect in Mapbp-Interacting Protein, is also known as primary immunodeficiency syndrome due to p14 deficiency. An important gene associated with Immunodeficiency Due to Defect in Mapbp-Interacting Protein is LAMTOR2 (Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 2). Affiliated tissues include b cells and bone marrow, and related phenotypes are coarse facial features and short stature

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
3
2

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