HEMOCHROMATOSIS, TYPE 1

Question 1

What is  HEMOCHROMATOSIS, TYPE 1?

Accepted Answer

rare (1:200 - 1:400)
autoasomal recessive
mutation in the HFE gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hämochromatose Typ 1, symptomatische Form; Neonatale Hämochromatose

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 235200

Question 4

Which enzymes are involved?

Accepted Answer

Hereditary hemochromatosis protein

Disease	HEMOCHROMATOSIS, TYPE 1
Synonym	HFE1
OMIM	235200 OMIM = Online Mendelian Inheritance of Men
Orphanet	465508
Protein (UniProt)	Hereditary hemochromatosis protein
Gene locus	6p22.2, 20p12.3 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Hemochromatosis gene
ICD	E83.1
Summary	rare (1:200 - 1:400) autoasomal recessive mutation in the HFE gene
Laboratory findings	Ferritin inc (serum) Iron inc (urine) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	alopecia ascites cardiac arrhythmia, dysrhythmia cardiomegaly cardiomyopathy cirrhosis or fibrosis of liver diabetes mellitus Glucose tolerance, impaired hepatomegaly (large liver) hyperpigmentation hypogonadism osteoporosis pain, abdominal pleural effusions splenomegaly (large spleen)