Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000082796 Individual ID 00104903 Associated disease HFE Phenotype details mild hyperferritinemia, metabolic syndrome, body mass index 31, hypercholesterolemia, type 2 diabetes mellitus, hepatic steatosis; iron overload phenotype, MRI mild liver iron overload (50 μmol Fe/g); phlebotomy initiated at 450 ml of blood per month for 3 months, then every 3 months thereafter with an annual check-up (1.35 g of Fe removed) ;no laboratory values to assess response;measures to control weight, cholesterol, and glucose were prescribed Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 52y (52 years) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2017-06-09 19:17:14 +02:00 (CEST) Date last edited N/A

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