MCID: PRP029
MIFTS: 61

Porphyria malady

Genetic diseases, Rare diseases, Blood diseases, Nephrological diseases, Skin diseases categories
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Summaries for Porphyria

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8Disease Ontology, 43NIH Rare Diseases, 34MedlinePlus, 21Genetics Home Reference, 65Wikipedia, 33MalaCards
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MedlinePlus:34 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. there are two main types of porphyrias. one affects the skin and the other affects 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, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. these symptoms come and go. 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 of porphyria is treated differently. treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. people who have severe attacks may need to be hospitalized. nih: national institute of diabetes and digestive and kidney diseases

MalaCards: Porphyria, also known as hematoporphyria, is related to acute intermittent porphyria and hepatitis. An important gene associated with Porphyria is HMBS (hydroxymethylbilane synthase), and among its related pathways are HIF-1-alpha transcription factor network and Metabolism. The compounds Uroporphyrinogen III and uroporphyrinogen i have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and bone marrow, and related mouse phenotypes are liver/biliary system and mortality/aging.

Disease Ontology:8 An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.

NIH Rare Diseases:43 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. last updated: 7/20/2011

Genetics Home Reference:21 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).

Wikipedia:65 The porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally... more...

Aliases & Classifications for Porphyria

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8Disease Ontology, 65Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 45Novoseek, 34MedlinePlus, 62UMLS, 58SNOMED-CT, 35MeSH, 27ICD9CM
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Classifications:



Aliases & Descriptions:

porphyria 8 65 43 21 45 34
hematoporphyria 8 65 21
porphyrin disorder 65 21
disorder of porphyrin and hem metabolism 8
disorder of porphyrin metabolism 8
porphyrinopathy 8
porphyria nos 8
porphyrias 62


Related Diseases for Porphyria

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17GeneCards, 18GeneDecks
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Diseases in the Congenital Porphyria family:

Acute Porphyria porphyria
Urod-Related Porphyrias

Diseases related to Porphyria via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 226)
idRelated DiseaseScoreTop Affiliating Genes
1acute intermittent porphyria31.6HMBS, ALAD, UROD, UROS, FECH, CPOX
2hepatitis31.4TF, HFE
3acute porphyria31.4PPOX, CPOX, FECH, UROD, ALAD, HMBS
4porphyria cutanea tarda31.4TF, CPOX, FECH, UROS, UROD, ALAD
5variegate porphyria31.2PPOX, CPOX, FECH, UROS, UROD, HMBS
6hepatoerythropoietic porphyria31.2UROS, UROD
7hepatitis c31.1HFE, TF
8cutaneous porphyria31.1UROD, UROS
9congenital porphyria31.0UROS, UROD, ALAD, HMBS, FECH, CPOX
10hemochromatosis30.9HFE, TF
11erythropoietic protoporphyria30.6PPOX, CPOX, FECH
12hereditary coproporphyria30.5PPOX, CPOX, FECH, UROS, UROD, ALAD
13hypertrichosis30.4UROS, UROD
14viral hepatitis30.2HFE, UROD
15siderosis30.1TF, UROD, HFE
16hemolytic anemia30.0HFE, CPOX, TF
17beta thalassemia30.0HFE, TF
18hemosiderosis29.7HFE, TF
19liver cirrhosis29.7HMBS, HFE, TF
20congenital erythropoietic porphyria11.0
21acute hepatic porphyria10.7
22hepatitis c virus10.6
23lupus erythematosus10.5
24chester porphyria10.5
25chronic hepatic porphyria10.4
26hepatocellular carcinoma10.4
27neuropathy10.4
28systemic lupus erythematosus10.4
29leukemia10.3
30hypertension10.3
31porphyria cutanea tarda, type ii10.3
32aminolevulinate dehydratase deficiency porphyria10.2
33liver disease10.2
34scleroderma10.2
35diabetes mellitus10.2
36peripheral neuropathy10.2
37ala dehydratase deficiency10.2
38ala deficiency porphyria10.2
39discoid lupus erythematosus10.2
40status epilepticus10.1
41acquired immunodeficiency syndrome10.1
42cutaneous lupus erythematosus10.1
43breast cancer10.1
44pancreatitis10.1
45respiratory failure10.1
46blindness10.1
47subacute cutaneous lupus erythematosus10.1
48cortical blindness10.1
49alopecia10.1
50autonomic neuropathy10.1

Graphical network of the top 20 diseases related to Porphyria:



Diseases related to porphyria

Symptoms for Porphyria

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Drugs & Therapeutics for Porphyria

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Porphyria

Search NIH Clinical Center for Porphyria

Genetic Tests for Porphyria

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Anatomical Context for Porphyria

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33MalaCards
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MalaCards organs/tissues related to Porphyria:

33
Skin, Liver, Bone marrow, Bone, Testes, Kidney, Brain, Breast, Myeloid, B cells, Pineal, Colon, Whole blood, Heart, Globus pallidus, Thyroid

Animal Models for Porphyria or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Porphyria:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.0UROS, UROD, HFE, FECH
2MP:00107687.5TF, FECH, UROS, UROD, HFE, HMBS
3MP:00053767.4UROD, TF, FECH, HMBS, HFE, UROS

Publications for Porphyria

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52PubMed
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Articles related to Porphyria:

(show top 50)    (show all 1931)
idTitleAuthorsYear
1
Challenges in the diagnosis and treatment of a case of acute intermittent porphyria in India. (24029211)
2013
2
Non-classical congenital adrenal hyperplasia in association with porphyria cutanea tarda: co-incidence or trigger? (22783026)
2012
3
An atypical case of Guillain-BarrAc syndrome: acute intermittent porphyria. (22273750)
2012
4
Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients. (20517178)
2010
5
Posterior reversible encephalopathy syndrome in a patient with acute intermittent porphyria. (20012311)
2010
6
Variegate porphyria induces plasma and neutrophil oxidative stress: effects of dietary supplementation with vitamins E and C. (19883519)
2010
7
Thomas Wakley, King George III and acute porphyria. (19966121)
2009
8
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. (19233912)
2009
9
Porphyria cutanea tarda as a complication of therapy for chronic hepatitis C. (18855993)
2008
10
Anticancer therapy in patients with porphyrias: evidence today. (18324878)
2008
11
Variations in porphobilinogen and 5-aminolevulinic acid concentrations in plasma and urine from asymptomatic carriers of the acute intermittent porphyria gene with increased porphyrin precursor excretion. (16497943)
2006
12
Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. (17137171)
2006
13
Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection. (16922948)
2006
14
Porphyria cutanea tarda masquerading as chronic hand eczema. (15206707)
2004
15
Refractory status epilepticus due to acute hepatic porphyria in a pregnant woman: induced abortion as the sole therapeutic option? (15469454)
2004
16
International air travel: a risk factor for attacks in acute intermittent porphyria. (12927685)
2003
17
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. (11855561)
2002
18
A study of 24-hour ambulatory blood pressure monitoring in cases of intermittent acute porphyria with hypertension: special reference to safety and efficacy of angiotensin-converting enzyme inhibitor (enalapril) therapy. (12674196)
2002
19
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile. (11173967)
2001
20
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. (10688809)
2000
21
Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda. (11202053)
2000
22
Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria. (11074242)
2000
23
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation. (10494093)
1999
24
Correction of uroporphyrinogen decarboxylase deficiency (hepatoerythropoietic porphyria) in Epstein-Barr virus-transformed B-cell lines by retrovirus-mediated gene transfer: fluorescence-based selection of transduced cells. (10397714)
1999
25
Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells. (9787090)
1998
26
Propofol and electroconvulsive therapy in a patient at risk from acute intermittent porphyria. (9602601)
1998
27
Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. (9620340)
1998
28
Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria. (9523350)
1998
29
Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (GA1nther's disease). (9164637)
1997
30
R325X mutation in exon 15 of the hydroxymethylbilane synthase gene identified in two Danish families with acute intermittent porphyria. (8565205)
1996
31
Hepatitis C and its association with lichen planus and porphyria cutanea tarda. (7868738)
1995
32
Folate deficiency and acute intermittent porphyria in a 12-year-old boy. (8327156)
1993
33
Porphyria cutanea tarda and peptic ulcer. (8095002)
1993
34
Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. (1549056)
1992
35
Porphyria cutanea tarda in a patient with AIDS. (1357562)
1992
36
Acute intermittent porphyria with atypical neuropathy. (2035100)
1991
37
Bile porphyrin analysis in the evaluation of variegate porphyria. (2020296)
1991
38
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. (2243121)
1990
39
Porphyria cutanea tarda and HIV infection. (2252569)
1990
40
A classification of liver tumours occurring in chronic hepatic porphyria. (2839017)
1987
41
Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria. (3015635)
1986
42
Protoporphyrin accumulation by mitogen stimulated lymphocytes and protoporphyrinogen oxidase activity in patients with porphyria variegata and erythropoietic protoporphyria: evidence for deficiency of protoporphyrinogen oxidase and ferrochelatase in both diseases. (3924091)
1985
43
Acute hepatic porphyria syndrome with porphobilinogen synthase defect. (7450139)
1980
44
Congenital erythropoietic porphyria--a relatively benign variant (2 cases). (7462130)
1980
45
Acute intermittent porphyria associated with inappropriate antidiuretic hormone secretion, hypokalemic alkalosis, and secondary hyperaldosteronism. (472850)
1979
46
Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase. (458830)
1979
47
The treatment of cutaneous porphyria. (883916)
1977
48
Congenital porphyria in a bovine carcase. (5062407)
1972
49
The neuropathology of acute porphyria. (13398893)
1956
50
SODIUM AND CHLORIDE DEPLETION IN ACUTE PORPHYRIA WITH REFERENCE TO THE STATUS OF ADRENAL CORTICAL FUNCTION. (16695727)
1949

Variations for Porphyria

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Expression for genes affiliated with Porphyria

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Porphyria

Search GEO for disease gene expression data for Porphyria.

Pathways for genes affiliated with Porphyria

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50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG
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Pathways related to Porphyria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4FECH, TF
2
Show member pathways
7.4PPOX, CPOX, FECH, UROS, UROD, ALAD
3
Show member pathways
tetrapyrrole biosynthesis38
heme degradation38
Heme Biosynthesis38
heme biosynthesis38
heme biosynthesis from uroporphyrinogen-III I38
7.4HMBS, PPOX, CPOX, FECH, UROS, UROD

Compounds for genes affiliated with Porphyria

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24HMDB, 45Novoseek, 11DrugBank, 29IUPHAR, 51PharmGKB
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Compounds related to Porphyria according to GeneCards/GeneDecks:

(show all 49)
idCompoundScoreTop Affiliating Genes
1Uroporphyrinogen III2410.1UROD, UROS
2uroporphyrinogen i45 2411.0UROD, UROS
3coproporphyrin i45 1111.0UROD, ALAD
4mspi459.9ALAD, HMBS
5Protoporphyrinogen IX249.9PPOX, CPOX
6iron dextran45 1110.9TF, UROD
7ethylenediaminetetraacetic acid459.8FECH, ALAD
8succinylacetone459.8TF, ALAD
9porphyrinogen459.8UROD, CPOX
10Coproporphyrin III24 1110.8UROD, CPOX
11mercury459.7UROD, CPOX
12fe3+459.7FECH, TF
13ppix459.7HMBS, PPOX, FECH
14propionate459.7UROD, CPOX
15selenium45 2410.6ALAD, TF
16deferoxamine45 1110.6TF, FECH
17phenobarbital45 29 51 1112.6HMBS, TF, UROD
18vitamin b12459.5ALAD, TF
19Coproporphyrinogen III249.5UROD, UROS, CPOX
20carbon dioxide45 2410.4CPOX, UROD
21zinc protoporphyrin459.4ALAD, FECH, TF
22uroporphyrin i459.3HMBS, ALAD, UROD, UROS
23pyrrole459.3FECH, UROD, CPOX
24succinate459.2CPOX, TF
25Water249.1HMBS, UROS, CPOX, PPOX
26lactate459.0TF, ALAD, CPOX
27fe2+459.0TF, HFE, FECH
28superoxide45 249.9CPOX, FECH, ALAD
29hydroxymethylbilane45 249.9PPOX, FECH, UROS, HMBS, UROD
30ascorbic acid45 249.9HFE, ALAD, TF
31uric acid45 249.9ALAD, HFE
32nitric oxide45 24 1110.9ALAD, FECH, CPOX, HMBS
33oxygen45 249.8FECH, UROD, CPOX, PPOX
34histidine458.8HMBS, UROD, HFE, FECH
35uroporphyrinogen-iii458.3HMBS, UROD, UROS, FECH, CPOX, PPOX
36alanine458.3HFE, FECH, CPOX, TF
37ethanol45 51 24 1111.2HFE, ALAD, UROD, CPOX, HMBS
38protoporphyrinogen458.2HMBS, ALAD, UROD, FECH, CPOX, PPOX
39lead458.1HFE, HMBS, ALAD, FECH, CPOX
40copper45 248.9FECH, HFE, ALAD, TF, CPOX
41uroporphyrin457.9CPOX, HMBS, HFE, ALAD, UROD, UROS
42haem457.9HMBS, HFE, UROD, FECH, CPOX, PPOX
43porphobilinogen45 24 119.9HMBS, ALAD, UROD, UROS, FECH, CPOX
44formyl-coa45 248.9HMBS, ALAD, UROS, FECH, CPOX, PPOX
45protoporphyrin ix45 24 119.7HMBS, ALAD, UROD, FECH, CPOX, TF
46porphyrin457.1UROS, FECH, CPOX, PPOX, UROD, ALAD
475-aminolevulinic acid45 248.0UROD, HMBS, HFE, ALAD, PPOX, CPOX
48heme29 24 118.5HMBS, HFE, ALAD, UROD, UROS, FECH
49iron45 247.5HMBS, HFE, ALAD, UROD, UROS, FECH

GO Terms for genes affiliated with Porphyria

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16Gene Ontology
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Cellular components related to Porphyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial intermembrane spaceGO:0057589.2CPOX, PPOX
2recycling endosomeGO:0550379.1HFE, TF
3basal part of cellGO:0451789.0HFE, TF

Biological processes related to Porphyria according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1response to insecticideGO:0170859.4CPOX, FECH
2response to methylmercuryGO:0515979.3FECH, CPOX
3response to arsenic-containing substanceGO:0466859.2FECH, CPOX
4cellular iron ion homeostasisGO:0068799.1TF, HFE
5response to lead ionGO:0102889.0FECH, CPOX
6protoporphyrinogen IX biosynthetic processGO:0067828.1PPOX, CPOX, UROS, UROD, HMBS, ALAD
7porphyrin-containing compound metabolic processGO:0067787.6HMBS, ALAD, UROD, UROS, FECH, CPOX
8heme biosynthetic processGO:0067837.6HMBS, ALAD, UROD, UROS, FECH, CPOX
9small molecule metabolic processGO:0442817.5ALAD, UROD, UROS, FECH, CPOX, PPOX

Products for genes affiliated with Porphyria

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Sources for Porphyria

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet