Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
genetic disorder |
| gptkbp:affects |
gptkb:skin
gptkb:pituitary_gland heart liver pancreas testes joints |
| gptkbp:alsoKnownAs |
iron overload
|
| gptkbp:cause |
arthritis
hypogonadism organ damage |
| gptkbp:causedBy |
mutation in HFE gene
mutation in HJV gene mutation in SLC40A1 gene mutation in TFR2 gene |
| gptkbp:complication |
gptkb:diabetes
heart failure liver cancer |
| gptkbp:diagnosedBy |
genetic testing
serum ferritin test transferrin saturation test |
| gptkbp:firstDescribed |
gptkb:Trousseau,_1865
|
| gptkbp:frequency |
1 in 200 to 1 in 400 in people of northern European descent
|
| https://www.w3.org/2000/01/rdf-schema#label |
hemochromatosis
|
| gptkbp:ICD-10_code |
E83.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mainGene |
gptkb:HFE
|
| gptkbp:mainMutation |
C282Y
H63D |
| gptkbp:MeSH_ID |
D006429
|
| gptkbp:OMIM |
235200
|
| gptkbp:prevalence |
most common in people of northern European descent
|
| gptkbp:prevention |
early diagnosis and treatment
|
| gptkbp:riskFactor |
family history
northern European ancestry |
| gptkbp:subspecies |
hereditary hemochromatosis
secondary hemochromatosis |
| gptkbp:symptom |
gptkb:diabetes_mellitus
heart disease abdominal pain fatigue joint pain liver cirrhosis skin bronzing |
| gptkbp:treatment |
phlebotomy
iron chelation therapy |
| gptkbp:bfsParent |
gptkb:TRF
|
| gptkbp:bfsLayer |
6
|