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GTR Home > Conditions/Phenotypes > Hereditary intrinsic factor deficiency

Hereditary intrinsic factor deficiency

Synonyms
Congenital intrinsic factor deficiency; Intrinsic factor deficiency; PERNICIOUS ANEMIA, CONGENITAL, DUE TO DEFECT OF INTRINSIC FACTOR
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia (170900). See also pernicious anemia due to defect in the receptor for vitamin B12/intrinsic factor (261100). [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GIF, IF, IFMH, INF, TCN3, CBLIF
    Summary: cobalamin binding intrinsic factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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