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
External Links
Disease Ontology
DOID:0050734
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
1557 CYP2C19 cytochrome P450 family 2 subfamily C member 19
64581 CLEC7A C-type lectin domain containing 7A
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9BXN2 C-type lectin domain family 7 member A

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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: August 19, 2024