HEMOCHROMATOSIS, TYPE 2B

Question 1

What is  HEMOCHROMATOSIS, TYPE 2B?

Accepted Answer

rare
autosomal recessive
mutation in the HAMP gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hämochromatose Typ 2b; Hämochromatose, juvenile

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613313

Question 4

Which enzymes are involved?

Accepted Answer

Hepcidin

Disease	HEMOCHROMATOSIS, TYPE 2B
OMIM	613313 OMIM = Online Mendelian Inheritance of Men
Orphanet	79230
Protein (UniProt)	Hepcidin
Gene locus	19q13.12
ICD	E83.1
Summary	rare autosomal recessive mutation in the HAMP gene
Laboratory findings	Ferritin inc (serum) Iron inc (serum) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	anemia cardiomyopathy cirrhosis or fibrosis of liver heart failure, cardiac failure hepatomegaly (large liver) hyperpigmentation hypogonadism onset, adolescent splenomegaly (large spleen)