Phenotype #0000082798

Global Variome shared LOVD

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

Individual ID	00104905
Associated disease	HFE
Phenotype details	classic hemochromatosis; metabolic syndrome, hyperferritinemia; MRI severe iron overload phenotype, iron liver deposits (160 μmol Fe/g), not in spleen or pancreas; phlebotomy for 2y (2 g of Fe) no follow-up MRI; abdominal ultrasound, revealed steatosis
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	59y (59 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2017-06-09 19:29:14 +02:00 (CEST)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.