Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by mutation in the HAMP gene (OMIM ). HFE2 is genetically heterogeneous (see HFE2A, {602390}).
And another 1 symptoms. If you need more information about this disease we can help you.
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
HAMP
Specificity
100 %
Genes
100 % |
![]() By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).
SEC23B, SLC40A1, TF, TFR2, HAMP, CDAN1, CP, STEAP3, SLC25A38, ALAS2, FTH1, FTL, HFE, HJV, B2M
Specificity
7 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
HAMP
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
BMP2, SLC40A1, TFR2, HAMP, FTH1, FTL, HFE, HJV
Specificity
13 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
BMP2, SLC40A1, TFR2, HAMP, FTH1, FTL, HFE, HJV
Specificity
13 %
Genes
100 % |
![]() By Translational Metabolic Laboratory Radboud University Medical Centre (Netherlands).
HAMP
Specificity
100 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
SLC40A1, TFR2, HAMP, FTH1, FTL, HFE, HJV
Specificity
15 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
HAMP
Specificity
100 %
Genes
100 % |
You can check the following sources for additional information.
OMIM MESH Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THANATOPHORIC DYSPLASIA, TYPE I; TD1 SPINOCEREBELLAR ATAXIA 40; SCA40