Immunodeficiency 26 (IMD26)

Alias:
Severe Combined Immunodeficiency Due to Dna-Pkcs Deficiency
Scid Due to Dna-Pkcs Deficiency
Immunodeficiency 26, with or Without Neurologic Abnormalities
Imd26
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 26, also known as severe combined immunodeficiency due to dna-pkcs deficiency, is related to immunodeficiency 26 with or without neurologic abnormalities and adenosarcoma. An important gene associated with Immunodeficiency 26 is PRKDC (Protein Kinase, DNA-Activated, Catalytic Subunit), and among its related pathways/superpathways are DNA Damage and Retinoblastoma gene in cancer. Affiliated tissues include t cells and nk cells, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and endocrine/exocrine gland
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
8
109
4

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