HEMOCHROMATOSIS, TYPE 3

Question 1

What is  HEMOCHROMATOSIS, TYPE 3?

Accepted Answer

rare
autoaomal recessive
mutation in the transferrin receptor-2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hämochromatose Typ 3; TFR2-Gen-assoziierte Hämochromatose

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 604250

Question 4

Which enzymes are involved?

Accepted Answer

Transferrin receptor protein 2

Disease	HEMOCHROMATOSIS, TYPE 3
Synonym	HFE3
OMIM	604250 OMIM = Online Mendelian Inheritance of Men
Orphanet	225123
Protein (UniProt)	Transferrin receptor protein 2
Gene locus	7q22.1
ICD	E83.1
Summary	rare autoaomal recessive mutation in the transferrin receptor-2 gene
Laboratory findings	Ferritin inc (serum) Iron inc (serum)
Symptoms	arthralgia cardiomyopathy cirrhosis or fibrosis of liver hyperpigmentation hypogonadism onset, adolescent pain, abdominal