Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:alsoKnownAs |
gptkb:HH
iron overload disorder |
| gptkbp:category |
autosomal recessive disease
metabolic disorder |
| gptkbp:cause |
gptkb:diabetes_mellitus
heart disease arthritis liver cirrhosis hypogonadism skin hyperpigmentation |
| gptkbp:characterizedBy |
excessive absorption of dietary iron
|
| gptkbp:complication |
gptkb:arrhythmia
liver failure hypothyroidism hepatocellular carcinoma cardiomyopathy pancreatic insufficiency |
| gptkbp:diagnosedBy |
genetic testing
serum ferritin test transferrin saturation test |
| gptkbp:firstDescribed |
gptkb:Armand_Trousseau
|
| gptkbp:frequency |
1 in 200-300 people of Northern European descent
|
| gptkbp:gender |
more common in males
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hereditary hemochromatosis
|
| gptkbp:ICD-10_code |
E83.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mostCommonMutation |
C282Y
H63D |
| gptkbp:mutationAssociatedWith |
gptkb:HFE_gene
|
| gptkbp:OMIM |
235200
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
most common in people of Northern European descent
|
| gptkbp:relatedTo |
gptkb:transferrin_receptor
secondary hemochromatosis ferroportin hepcidin juvenile hemochromatosis |
| gptkbp:riskFactor |
being of Celtic ancestry
family history of hemochromatosis |
| gptkbp:symptom |
abdominal pain
fatigue joint pain weight loss loss of libido |
| gptkbp:treatment |
phlebotomy
iron chelation therapy |
| gptkbp:bfsParent |
gptkb:P02787
|
| gptkbp:bfsLayer |
7
|