Statements (40)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
gptkb:porphyria |
| gptkbp:affectsOrgan |
liver
|
| gptkbp:cause |
enzyme deficiency in heme biosynthesis
|
| gptkbp:complication |
liver cancer
chronic kidney disease hyponatremia |
| gptkbp:diagnosedBy |
genetic testing
urine porphobilinogen test |
| gptkbp:firstDescribed |
late 19th century
|
| gptkbp:ICD-10_code |
E80.2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:MeSH_ID |
D011169
|
| gptkbp:OMIM |
176000
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
gptkb:beer
fasting stress certain drugs hormonal changes |
| gptkbp:seeAlso |
gptkb:Porphyria
Heme biosynthesis Acute Intermittent Porphyria |
| gptkbp:subspecies |
ALA Dehydratase Deficiency Porphyria
Acute Intermittent Porphyria Hereditary Coproporphyria Variegate Porphyria |
| gptkbp:symptom |
gptkb:peripheral_neuropathy
nausea vomiting abdominal pain hypertension muscle weakness tachycardia |
| gptkbp:treatment |
gptkb:hemin
pain management glucose infusion |
| gptkbp:bfsParent |
gptkb:AHP
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
Acute Hepatic Porphyria
|