Genomic coordinate (human 11:59,829,273 CBLIF) & (mouse 19:11,724,918 Cblif).
Cytoband (human 11q12.1 CBLIF) & (mouse 19qB1 Cblif).
Here I 🎁 present: “Congenital Pernicious Anemia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (CBLIF) icd10=D51.0
Congenital pernicious anemia is a hereditary condition preventing vitamin B12
absorption due to a lack of intrinsic factor protein, causing megaloblastic anemia and neurological damage. Symptoms include fatigue, pale skin, shortness of breath, and neurological issues like numbness. Treatment requires lifelong vitamin B12 supplementation.
Congenital pernicious anemia, is a disorder characterized by the lack of gastric intrinsic factor (GIF) 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.
There is evidence that congenital pernicious anemia is caused by mutation in the cobalamin’ binding intrinsic factor (CBLIF) gene encoded on genomic coordinate 11:59,829,273 and cytoband 11q12.1 in humans.
