Preferred Label : Haptocorrin deficiency;
ICD-11 definition : Haptocorrin also known as transcobalamin-1 (TC-1), or the R-factor, is a protein that
in humans is encoded by the TCN1 gene. The essential function of haptocorrin is protection
of the acid-sensitive vitamin B12 while it moves through the stomach. Genomic mutations
associated with mild and severe deficiencies of haptocorrin that cause mildly and
severely low serum cobalamin levels due to absorption abnormalities.;
ICD-11 synonym : TCN1 - [Transcobalamin I] deficiency; Vitamin B12-binding alpha-globulin deficiency; Cobalophilin deficiency; Protein R deficiency; TCN1 deficiency; Vitamin B12-binding protein 1 deficiency; Transcobalamin I deficiency;
Origin ID : 1005802309;
Currated CISMeF NLP mapping
- Validated automatic mappings to NTBT
Haptocorrin also known as transcobalamin-1 (TC-1), or the R-factor, is a protein that
in humans is encoded by the TCN1 gene. The essential function of haptocorrin is protection
of the acid-sensitive vitamin B12 while it moves through the stomach. Genomic mutations
associated with mild and severe deficiencies of haptocorrin that cause mildly and
severely low serum cobalamin levels due to absorption abnormalities.
