HEMOCHROMATOSIS, TYPE 2A

rare (<100 cases) autosomal recessive

Hämochromatose Typ 2a; Hämochromatose, juvenile

Question 1

What is  HEMOCHROMATOSIS, TYPE 2A?

Accepted Answer

rare (<100 cases)
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hämochromatose Typ 2a; Hämochromatose, juvenile

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 602390

Question 4

Which enzymes are involved?

Accepted Answer

Hemojuvelin

Disease	HEMOCHROMATOSIS, TYPE 2A
Synonym	HFE2
OMIM	602390 OMIM = Online Mendelian Inheritance of Men
Orphanet	79230
Protein (UniProt)	Hemojuvelin
Gene locus	1q21.1
ICD	E83.1
Summary	rare (<100 cases) autosomal recessive
Laboratory findings	Ferritin inc (serum) Iron inc (serum)
Symptoms	arthralgia arthritis cardiac arrhythmia, dysrhythmia cardiomegaly cardiomyopathy, dilated cirrhosis or fibrosis of liver fatigue, severe or unusual hepatomegaly (large liver) hyperpigmentation hypogonadism lethargy, drowsiness, apathy muscle weakness onset, adolescent onset, adulthood splenomegaly (large spleen)