SPARQL | HTML5 RDFa and Microdata document
https://identifiers.org/chebi/CHEBI:15437
https://identifiers.org/chebi/CHEBI:15439
https://identifiers.org/chebi/CHEBI:26355
https://identifiers.org/wikipathways/WP5169_r128214
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.w3.org/2004/02/skos/core#Collection
http://vocabularies.wikipathways.org/wp#Pathway
http://vocabularies.wikipathways.org/wp#cellTypeOntologyTag
http://purl.obolibrary.org/obo/CL_0000182
http://vocabularies.wikipathways.org/wp#diseaseOntologyTag
http://purl.obolibrary.org/obo/DOID_0060063
http://purl.obolibrary.org/obo/DOID_3132
http://purl.obolibrary.org/obo/DOID_3133
http://purl.obolibrary.org/obo/DOID_3890
http://purl.obolibrary.org/obo/DOID_655
http://purl.obolibrary.org/obo/DOID_13271
http://purl.obolibrary.org/obo/DOID_13268
http://purl.obolibrary.org/obo/DOID_13270
http://purl.obolibrary.org/obo/DOID_5230
http://vocabularies.wikipathways.org/wp#isAbout
http://rdf.wikipathways.org/Pathway/WP5169_r128214
http://vocabularies.wikipathways.org/wp#ontologyTag
http://purl.obolibrary.org/obo/DOID_5230
http://vocabularies.wikipathways.org/wp#Curation:AnalysisCollection
http://vocabularies.wikipathways.org/wp#Curation:IEM
http://vocabularies.wikipathways.org/wp#Curation:RareDiseases
http://purl.obolibrary.org/obo/DOID_655
http://purl.obolibrary.org/obo/PW_0001589
http://purl.obolibrary.org/obo/PW_0000013
http://purl.obolibrary.org/obo/CL_0000182
http://purl.obolibrary.org/obo/PW_0001784
http://purl.obolibrary.org/obo/PW_0001980
http://purl.obolibrary.org/obo/PW_0002017
http://purl.obolibrary.org/obo/PW_0002216
http://purl.obolibrary.org/obo/PW_0000001
http://purl.obolibrary.org/obo/PW_0000218
http://purl.obolibrary.org/obo/DOID_13268
http://purl.obolibrary.org/obo/DOID_13270
http://purl.obolibrary.org/obo/DOID_13271
http://purl.obolibrary.org/obo/DOID_0060063
http://purl.obolibrary.org/obo/DOID_3132
http://purl.obolibrary.org/obo/DOID_3133
http://purl.obolibrary.org/obo/DOID_3890
http://vocabularies.wikipathways.org/wp#organism
http://purl.obolibrary.org/obo/NCBITaxon_9606
http://vocabularies.wikipathways.org/wp#organismName
http://vocabularies.wikipathways.org/wp#pathwayOntologyTag
http://purl.obolibrary.org/obo/PW_0001589
http://purl.obolibrary.org/obo/PW_0000013
http://purl.obolibrary.org/obo/PW_0001784
http://purl.obolibrary.org/obo/PW_0001980
http://purl.obolibrary.org/obo/PW_0002017
http://purl.obolibrary.org/obo/PW_0002216
http://purl.obolibrary.org/obo/PW_0000001
http://purl.obolibrary.org/obo/PW_0000218
http://xmlns.com/foaf/0.1/img
https://www.wikipathways.org//wpi/wpi.php?action=downloadFile&type=png&pwTitle=Pathway:WP5169&oldid=128214
https://www.wikipathways.org//wpi/wpi.php?action=downloadFile&type=svg&pwTitle=Pathway:WP5169&oldid=128214
http://xmlns.com/foaf/0.1/page
http://www.wikipathways.org/instance/WP5169_r128214
http://purl.org/dc/elements/1.1/identifier
https://identifiers.org/wikipathways/WP5169
http://purl.org/dc/elements/1.1/source
http://purl.org/dc/elements/1.1/title
Hemesynthesis defects and porphyrias
http://purl.org/dc/terms/description
Defects in the heme biosynthesis in a hepatocyte can result in specific metabolic disorders called porphyrias. These diseases can be split into two categories, namely acute porphyrias and non-acute porphyrias. Acute hepatic porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and Doss porphyria (ALADP) are all part of the acute-hepatic porphyrias. This type is often associated with an overproduction of neurotoxic porphyrins and porphyrin precursors.
The non-acute porphyrias include, porphyria cutanea tarda, erythropoietic porphyria, and congenital erythropoietic porphyria. These diseases are instead characterised by photosensitivity of the skin and in severe cases liver damage, caused by porphyrins. Another type of porphyria are the X-linked protoporphyria diseases, which are a result of a gain of function mutation in the 5-aminolevulinic acid synthase 2 gene. This causes an accumulation of protoporphyrin IX.
The disease present in the patient is determined by what enzyme is affected in the heme biosynthesis pathway.
This pathway has been constructed using chapter 33 of the book; Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases (first edition), by N.Blau et al (ISBN 3642403360 (978-3642403361)).
http://purl.org/dc/terms/identifier
http://purl.org/spar/cito/cites
https://identifiers.org/pubmed/10692079
https://identifiers.org/pubmed/27496948
https://identifiers.org/pubmed/30594473
https://identifiers.org/pubmed/31326287
https://identifiers.org/pubmed/31085196
https://identifiers.org/pubmed/20506125
https://identifiers.org/chebi/CHEBI:15380
https://identifiers.org/hmdb/HMDB0000123
https://identifiers.org/chebi/CHEBI:15435
https://identifiers.org/chebi/CHEBI:17549
https://identifiers.org/chebi/CHEBI:28607
https://identifiers.org/chebi/CHEBI:28766
https://identifiers.org/chebi/CHEBI:57306
https://identifiers.org/chebi/CHEBI:57845
https://identifiers.org/chebi/CHEBI:89912
https://identifiers.org/hmdb/HMDB0000743
https://identifiers.org/hmdb/HMDB0000789
https://identifiers.org/hmdb/HMDB0001952
https://identifiers.org/hmdb/HMDB0001956
https://identifiers.org/hmdb/HMDB0001957
https://identifiers.org/ncbigene/1371
https://identifiers.org/ncbigene/210
https://identifiers.org/ncbigene/211
https://identifiers.org/ncbigene/212
https://identifiers.org/ncbigene/2235
https://identifiers.org/ncbigene/3145
https://identifiers.org/ncbigene/5498
https://identifiers.org/ncbigene/7389
https://identifiers.org/ncbigene/7390
https://identifiers.org/wikipathways/WP5169
https://identifiers.org/chebi/CHEBI:17381
http://rdf.wikipathways.org/Pathway/WP5169_r128214/WP/Interaction/id1be03257
http://rdf.wikipathways.org/Pathway/WP5169_r128214/WP/Interaction/id42ad9495
http://rdf.wikipathways.org/Pathway/WP5169_r128214/WP/Interaction/id5c825522
http://rdf.wikipathways.org/Pathway/WP5169_r128214/WP/Interaction/id5fdd76c
http://rdf.wikipathways.org/Pathway/WP5169_r128214/WP/Interaction/idaa389f95
http://rdf.wikipathways.org/Pathway/WP5169_r128214/WP/Interaction/idbb66331f
http://rdf.wikipathways.org/Pathway/WP5169_r128214/WP/Interaction/idbbcdfe64
http://rdf.wikipathways.org/Pathway/WP5169_r128214/WP/Interaction/iddd225601
http://rdf.wikipathways.org/Pathway/WP5169_r128214/WP/Interaction/ide2fc7369
http://rdf.wikipathways.org/Pathway/WP5169_r128214/WP/Interaction/idf30db84
http://rdf.wikipathways.org/Pathway/WP5169_r128214/WP/Interaction/idf3c76b3c
http://rdf.wikipathways.org/Pathway/WP5169_r128214/WP/Interaction/idf54dc08f
http://rdf.wikipathways.org/Pathway/WP5169_r128214/WP/Interaction/idfc2e7cdd
http://rdf.wikipathways.org/Pathway/WP5169_r128214/WP/Interaction/idfd4c1330
http://rdf.wikipathways.org/Pathway/WP5169_r128214/WP/Interaction/idfe7780f7