Congenital Intrinsic Factor Deficiency (IFD)

Alias:
Hereditary Intrinsic Factor Deficiency
Congenital Pernicious Anemia
Intrinsic Factor Deficiency
Hereditary Juvenile Megaloblastic Anemia Due to Intrinsic Factor Deficiency
Gastric Intrinsic Factor Deficiency
Ifd
Intrinsic Factor Deficiency, Congenital, Susceptibility to
Megaloblastic Anemia Due to Inborn Errors of Metabolism
Intrinsic Factor, Congenital Deficiency of
Congenital Deficiency of Intrinsic Factor
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Intrinsic Factor Deficiency, also known as hereditary intrinsic factor deficiency, is related to pernicious anemia and vitamin b12 deficiency. An important gene associated with Congenital Intrinsic Factor Deficiency is CBLIF (Cobalamin Binding Intrinsic Factor), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include small intestine and tongue, and related phenotypes are growth/size/body region and cardiovascular system
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
<1/1000000
6
51
11

Medical Symptom

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

Gene & Mutation

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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
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