|
gptkbp:instanceOf
|
gptkb:disease
porphyria
|
|
gptkbp:affectsOrgan
|
liver
|
|
gptkbp:associatedWith
|
gptkb:HMBS
gptkb:ALAD
gptkb:CPOX
gptkb:PPOX
|
|
gptkbp:causedBy
|
enzyme deficiency in heme biosynthesis
|
|
gptkbp:complication
|
hypertension
chronic kidney disease
chronic pain
hepatocellular carcinoma
|
|
gptkbp:describedBy
|
gptkb:Orphanet
gptkb:MeSH
gptkb:OMIM
|
|
gptkbp:hasDiagnosticMethod
|
urine delta-aminolevulinic acid
urine porphobilinogen
|
|
gptkbp:hasOrphanetID
|
792
|
|
gptkbp:hasType
|
gptkb:acute_intermittent_porphyria
gptkb:ALA_dehydratase_deficiency_porphyria
gptkb:hereditary_coproporphyria
gptkb:variegate_porphyria
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
acute hepatic porphyria
|
|
gptkbp:ICD-10_code
|
E80.2
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:MeSH_ID
|
D011169
|
|
gptkbp:OMIM
|
176000
|
|
gptkbp:onset
|
adulthood
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:riskFactor
|
gptkb:beer
fasting
smoking
certain drugs
hormonal changes
|
|
gptkbp:symptom
|
vomiting
abdominal pain
hypertension
muscle weakness
peripheral neuropathy
tachycardia
psychiatric symptoms
|
|
gptkbp:treatment
|
gptkb:hemin
pain management
glucose
beta-blockers
antiemetics
|
|
gptkbp:bfsParent
|
gptkb:Givlaari
|
|
gptkbp:bfsLayer
|
7
|