Statements (48)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affects |
gptkb:skin
heart liver pancreas joints |
| gptkbp:alsoKnownAs |
iron overload disorder
|
| gptkbp:causedBy |
excessive absorption of dietary iron
|
| gptkbp:complication |
gptkb:diabetes
heart failure liver cancer arthritis |
| gptkbp:diagnosedBy |
genetic testing
serum ferritin test transferrin saturation test |
| gptkbp:differentialDiagnosis |
gptkb:Wilson's_disease
gptkb:porphyria_cutanea_tarda chronic hepatitis |
| gptkbp:firstDescribed |
gptkb:Trousseau,_1865
|
| https://www.w3.org/2000/01/rdf-schema#label |
Hemochromatosis
|
| gptkbp:ICD-10_code |
E83.1
|
| gptkbp:inheritance |
yes
autosomal recessive |
| gptkbp:involvedIn |
gptkb:HFE
|
| gptkbp:MeSH_ID |
D006397
|
| gptkbp:mostCommonType |
hereditary hemochromatosis
|
| gptkbp:mutationAssociatedWith |
C282Y
H63D |
| gptkbp:OMIM |
235200
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
more common in people of Northern European descent
|
| gptkbp:prevention |
early diagnosis and treatment
|
| gptkbp:prognosis |
good with early treatment
poor if untreated |
| gptkbp:riskFactor |
family history
male gender alcohol use |
| gptkbp:symptom |
gptkb:diabetes_mellitus
heart disease abdominal pain fatigue joint pain liver cirrhosis skin hyperpigmentation |
| gptkbp:treatment |
phlebotomy
iron chelation therapy |
| gptkbp:bfsParent |
gptkb:Transferrin
|
| gptkbp:bfsLayer |
7
|