congenital intrinsic factor deficiency

Summary
Synonym
  • hereditary intrinsic factor deficiency
Definition
A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption.
Super Class
physical disorder vitamin B12 deficiency
Disease Ontology
DOID:0050734
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2694 CBLIF cobalamin binding intrinsic factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
14603 Cblif cobalamin binding intrinsic factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
29319 Cblif cobalamin binding intrinsic factor
Displaying 1 entry
Gene ID Gene Symbol Description Source
31380 CG3556 uncharacterized protein

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024