Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency (DHFRD)

Alias:
Constitutional Megaloblastic Anemia with Severe Neurologic Disease
Dhfr Deficiency
Dihydrofolate Reductase Deficiency
Anemia, Megaloblastic, Due to Dihydrofolate Reductase Deficiency
Deficiency of Dihydrofolate Reductase
Dhfrd
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency, also known as constitutional megaloblastic anemia with severe neurologic disease, is related to megaloblastic anemia and transcobalamin ii deficiency, and has symptoms including ataxia, icterus and absence seizures. An important gene associated with Megaloblastic Anemia Due to Dihydrofolate Reductase Deficiency is DHFR (Dihydrofolate Reductase). Affiliated tissues include bone marrow and bone, and related phenotypes are increased mean corpuscular volume and decreased csf 5-methyltetrahydrofolate concentration
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
1
7
5

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