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MCID: PRP029
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Porphyria malady |
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Sources: 6Disease Ontology, 17Genetics Home Reference, 30NIH Rare Diseases, 23MedlinePlus, 44Wikipedia, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: The porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body’s organs. Major types include ALAD deficiency porphyria , acute intermittent porphyria, congenital erythropoietic porphyria , erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria. The most common type of porphyria is porphyria cutanea tarda. Some of the symptoms of porphyria include blistering, swelling, and itching when the skin is exposed to sun. Other symptoms may also include pain, numbness or tingling, vomiting, constipation and intellectual disability. There is no known cure for porphyria, but the multiple forms have different courses of treatment.
Most porphyrias are inherited conditions with either an autosomal dominant or autosomal recessive pattern of inheritance. Porphyria can also be caused by environmental factors such as infections or exposures to certain prescription drugs. This type of porphyria is called sporadic or acquired porphyria.30
MalaCards: Porphyria, also known as hematoporphyria, is related to acute intermittent porphyria and variegate porphyria. An important gene associated with Porphyria is HMBS (hydroxymethylbilane synthase), and among its related pathways are Metabolism and Porphyrin and chlorophyll metabolism. The compounds formyl-coa and porphyrin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, kidney and liver, and related mouse phenotypes are renal/urinary system and liver/biliary system. Disease Ontology: An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.6 Genetics Home Reference: Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).17 MedlinePlus: Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. porphyrias affect the skin or the nervous system. people with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. the nervous system type is called acute porphyria. symptoms include pain in the chest or abdomen, vomiting, and diarrhea or constipation. during an attack, symptoms can include muscle numbness, tingling, paralysis, cramping, and personality or mental changes. certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress and sun exposure. attacks develop over hours or days. they can last for days or weeks. porphyria can be hard to diagnose. it requires blood, urine and stool tests. each type has a different treatment. it usually involves medicine, treatment with heme or drawing blood. nih: national institute of diabetes and digestive and kidney diseases23 Wikipedia: The porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally...44 more... |
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Sources: 6Disease Ontology, 7diseasecard, 44Wikipedia, 30NIH Rare Diseases, 17Genetics Home Reference, 8DISEASES, 32Novoseek , 23MedlinePlus, 43UMLS, 40SNOMED-CT, 19ICD9CM, 24MeSH See all sources |
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for porphyria Drug clinical trials:Search ClinicalTrials for porphyria Search NIH Clinical Center for porphyria Search CenterWatch for porphyria |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to porphyria:22Bone marrow, Kidney, Liver, Skin, T cells, B lymphoblasts, B cells
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to porphyria:25
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Sources: 35PubMed See all sources |
Articles related to porphyria:(show top 50) (show all 423)
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Sources: 1BioGPS See all sources |
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Sources: 38Reactome, 20KEGG, 41Thomson Reuters, 34PharmGKB, 10EMD Millipore See all sources |
Pathways related to porphyria according to GeneDecks:(show top 50) (show all 60)
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Sources: 32Novoseek , 18HMDB, 9DrugBank, 34PharmGKB, 42Tocris Bioscience See all sources |
Compounds related to porphyria according to GeneDecks:(show top 50) (show all 585)
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Sources: 12Gene Ontology See all sources |
Cellular components related to porphyria according to GeneDecks:
Biological processes related to porphyria according to GeneDecks:(show all 23)
Molecular functions related to porphyria according to GeneDecks:(show all 11)
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