MCID: PRP029
MIFTS: 63

Porphyria malady

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

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MedlinePlus:33 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 based summary: Porphyria, also known as hematoporphyria, is related to hepatoerythropoietic porphyria and cutaneous porphyria, and has symptoms including 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.

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).

NIH Rare Diseases:42 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

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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Porphyria, Aliases & Descriptions:

Name: Porphyria 8 65 42 21 44 33
Hematoporphyria 8 65 21 62
Porphyrin Disorder 65 21 62
Disorder of Porphyrin Metabolism 8 62
 
Porphyrinopathy 8 62
Disorder of Porphyrin and Hem Metabolism 8
Porphyrias 62


Classifications:



Related Diseases for Porphyria

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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 231)
idRelated DiseaseScoreTop Affiliating Genes
1hepatoerythropoietic porphyria31.6UROS, UROD
2cutaneous porphyria31.5UROD, UROS
3hepatitis31.3TF, HFE
4hepatitis c31.0HFE, TF
5hemochromatosis31.0HFE, TF
6acute porphyria30.8PPOX, CPOX, FECH, UROD, ALAD, HMBS
7acute intermittent porphyria30.8HMBS, ALAD, UROD, UROS, FECH, CPOX
8congenital erythropoietic porphyria30.7UROS, UROD, ALAD, HMBS, FECH, CPOX
9hypertrichosis30.7UROS, UROD
10erythropoietic protoporphyria30.6PPOX, CPOX, FECH
11variegate porphyria30.5PPOX, CPOX, FECH, UROS, UROD, HMBS
12viral hepatitis30.2HFE, UROD
13siderosis30.1TF, UROD, HFE
14beta thalassemia30.0HFE, TF
15porphyria cutanea tarda30.0TF, CPOX, FECH, UROS, UROD, ALAD
16hemosiderosis29.8HFE, TF
17hereditary coproporphyria29.8PPOX, CPOX, FECH, UROS, UROD, ALAD
18hemolytic anemia29.7HFE, CPOX, TF
19liver cirrhosis29.6HMBS, HFE, TF
20congenital porphyria10.8
21acute hepatic porphyria10.7
22hepatitis c virus10.7
23lupus erythematosus10.5
24chester porphyria10.5
25hepatocellular carcinoma10.4
26neuropathy10.4
27systemic lupus erythematosus10.4
28leukemia10.3
29hypertension10.3
30porphyria cutanea tarda, type ii10.3
31aminolevulinate dehydratase deficiency porphyria10.3
32liver disease10.2
33scleroderma10.2
34diabetes mellitus10.2
35ala dehydratase deficiency10.2
36ala deficiency porphyria10.2
37discoid lupus erythematosus10.2
38status epilepticus10.1
39acquired immunodeficiency syndrome10.1
40cutaneous lupus erythematosus10.1
41breast cancer10.1
42liver cancer10.1
43pancreatitis10.1
44peripheral neuropathy10.1
45respiratory failure10.1
46lead poisoning10.1
47blindness10.1
48subacute cutaneous lupus erythematosus10.1
49uremia10.1TF, ALAD
50alopecia10.1

Graphical network of the top 20 diseases related to Porphyria:



Diseases related to porphyria

Symptoms for Porphyria

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HPO human phenotypes related to Porphyria:

(show all 21)
id Description Frequency HPO Source Accession
1 abnormality of urine homeostasis hallmark (90%) HP:0003110
2 abnormality of the heme biosynthetic pathway hallmark (90%) HP:0010472
3 hypertension typical (50%) HP:0000822
4 pruritus typical (50%) HP:0000989
5 cutaneous photosensitivity typical (50%) HP:0000992
6 abnormality of skin pigmentation typical (50%) HP:0001000
7 diarrhea typical (50%) HP:0002014
8 nausea and vomiting typical (50%) HP:0002017
9 constipation typical (50%) HP:0002019
10 abdominal pain typical (50%) HP:0002027
11 anorexia typical (50%) HP:0002039
12 sleep disturbance typical (50%) HP:0002360
13 abnormal blistering of the skin typical (50%) HP:0008066
14 chest pain typical (50%) HP:0100749
15 hallucinations occasional (7.5%) HP:0000738
16 seizures occasional (7.5%) HP:0001250
17 muscle weakness occasional (7.5%) HP:0001324
18 flexion contracture occasional (7.5%) HP:0001371
19 paresthesia occasional (7.5%) HP:0003401
20 abnormality of temperature regulation occasional (7.5%) HP:0004370
21 cerebral palsy occasional (7.5%) HP:0100021

Drugs & Therapeutics for Porphyria

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Drug clinical trials:

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Search NIH Clinical Center for Porphyria

Genetic Tests for Porphyria

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Anatomical Context for Porphyria

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MalaCards organs/tissues related to Porphyria:

32
Skin, Liver, Bone marrow, Bone, Testes, Kidney, Brain, Breast, Whole blood, Colon, Myeloid, B cells, Pineal, Eye, Heart, Thyroid, Globus pallidus, Neutrophil

Animal Models for Porphyria or affiliated genes

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MGI Mouse Phenotypes related to Porphyria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.0FECH, UROS, UROD, HFE
2MP:00107687.5HMBS, HFE, UROD, UROS, FECH, TF
3MP:00053767.4HMBS, HFE, UROD, UROS, FECH, TF

Publications for Porphyria

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Articles related to Porphyria:

(show top 50)    (show all 1964)
idTitleAuthorsYear
1
Porphyria cutanea tarda and Sjogren's syndrome. (25054769)
2014
2
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria. (24925316)
2014
3
Urinary metabolic fingerprint of acute intermittent porphyria analyzed by (1)H NMR spectroscopy. (24437734)
2014
4
Challenges in the diagnosis and treatment of a case of acute intermittent porphyria in India. (24029211)
2013
5
Non-classical congenital adrenal hyperplasia in association with porphyria cutanea tarda: co-incidence or trigger? (22783026)
2012
6
An atypical case of Guillain-BarrAc syndrome: acute intermittent porphyria. (22273750)
2012
7
Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients. (20517178)
2010
8
Posterior reversible encephalopathy syndrome in a patient with acute intermittent porphyria. (20012311)
2010
9
Variegate porphyria induces plasma and neutrophil oxidative stress: effects of dietary supplementation with vitamins E and C. (19883519)
2010
10
Thomas Wakley, King George III and acute porphyria. (19966121)
2009
11
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. (19233912)
2009
12
Porphyria cutanea tarda as a complication of therapy for chronic hepatitis C. (18855993)
2008
13
Anticancer therapy in patients with porphyrias: evidence today. (18324878)
2008
14
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
15
Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. (17137171)
2006
16
Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection. (16922948)
2006
17
Porphyria cutanea tarda masquerading as chronic hand eczema. (15206707)
2004
18
Refractory status epilepticus due to acute hepatic porphyria in a pregnant woman: induced abortion as the sole therapeutic option? (15469454)
2004
19
International air travel: a risk factor for attacks in acute intermittent porphyria. (12927685)
2003
20
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. (11855561)
2002
21
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
22
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile. (11173967)
2001
23
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. (10688809)
2000
24
Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda. (11202053)
2000
25
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation. (10494093)
1999
26
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
27
The cutaneous porphyrias. (10604794)
1999
28
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
29
Propofol and electroconvulsive therapy in a patient at risk from acute intermittent porphyria. (9602601)
1998
30
Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. (9620340)
1998
31
Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (GA1nther's disease). (9164637)
1997
32
Type of impaired porphyrin metabolism caused by hepatitis C virus is not porphyria cutanea tarda but chronic hepatic porphyria. (9301601)
1997
33
R325X mutation in exon 15 of the hydroxymethylbilane synthase gene identified in two Danish families with acute intermittent porphyria. (8565205)
1996
34
Hepatitis C and its association with lichen planus and porphyria cutanea tarda. (7868738)
1995
35
Folate deficiency and acute intermittent porphyria in a 12-year-old boy. (8327156)
1993
36
Porphyria cutanea tarda and peptic ulcer. (8095002)
1993
37
Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. (1549056)
1992
38
Porphyria cutanea tarda in a patient with AIDS. (1357562)
1992
39
Acute intermittent porphyria with atypical neuropathy. (2035100)
1991
40
Bile porphyrin analysis in the evaluation of variegate porphyria. (2020296)
1991
41
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. (2243121)
1990
42
Porphyria cutanea tarda and HIV infection. (2252569)
1990
43
A classification of liver tumours occurring in chronic hepatic porphyria. (2839017)
1987
44
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
45
Acute hepatic porphyria syndrome with porphobilinogen synthase defect. (7450139)
1980
46
Congenital erythropoietic porphyria--a relatively benign variant (2 cases). (7462130)
1980
47
Acute intermittent porphyria associated with inappropriate antidiuretic hormone secretion, hypokalemic alkalosis, and secondary hyperaldosteronism. (472850)
1979
48
The treatment of cutaneous porphyria. (883916)
1977
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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Expression patterns in normal tissues for genes affiliated with Porphyria

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Pathways for genes affiliated with Porphyria

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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 biosynthesis37
heme degradation37
Heme Biosynthesis37
heme biosynthesis37
heme biosynthesis from uroporphyrinogen-III I37
7.4HMBS, PPOX, CPOX, FECH, UROS, UROD

Compounds for genes affiliated with Porphyria

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Sources:
24HMDB, 44Novoseek, 11DrugBank, 28IUPHAR, 50PharmGKB
See all sources

Compounds related to Porphyria according to GeneCards/GeneDecks:

(show all 49)
idCompoundScoreTop Affiliating Genes
1Uroporphyrinogen III2410.1UROS, UROD
2uroporphyrinogen i44 2411.1UROS, UROD
3coproporphyrin i44 1111.0UROD, ALAD
4mspi449.9HMBS, ALAD
5Protoporphyrinogen IX249.9PPOX, CPOX
6iron dextran44 1110.9UROD, TF
7succinylacetone449.8TF, ALAD
8ethylenediaminetetraacetic acid449.8FECH, ALAD
9Coproporphyrin III24 1110.8CPOX, UROD
10porphyrinogen449.8CPOX, UROD
11mercury449.7UROD, CPOX
12fe3+449.7TF, FECH
13ppix449.7PPOX, FECH, HMBS
14propionate449.7UROD, CPOX
15selenium44 2410.6ALAD, TF
16deferoxamine44 1110.6FECH, TF
17phenobarbital44 28 50 1112.6HMBS, UROD, TF
18vitamin b12449.5ALAD, TF
19Coproporphyrinogen III249.5CPOX, UROS, UROD
20carbon dioxide44 2410.4UROD, CPOX
21zinc protoporphyrin449.4ALAD, FECH, TF
22uroporphyrin i449.3UROS, UROD, ALAD, HMBS
23pyrrole449.3CPOX, FECH, UROD
24succinate449.2CPOX, TF
25Water249.1HMBS, UROS, CPOX, PPOX
26lactate449.0TF, CPOX, ALAD
27fe2+449.0TF, FECH, HFE
28superoxide44 249.9CPOX, FECH, ALAD
29hydroxymethylbilane44 249.9HMBS, UROD, UROS, FECH, PPOX
30ascorbic acid44 249.9TF, ALAD, HFE
31uric acid44 249.9HFE, ALAD
32nitric oxide44 24 1110.9CPOX, FECH, ALAD, HMBS
33oxygen44 249.8PPOX, CPOX, FECH, UROD
34histidine448.8FECH, UROD, HFE, HMBS
35uroporphyrinogen-iii448.3PPOX, HMBS, UROD, UROS, FECH, CPOX
36alanine448.3HFE, FECH, CPOX, TF
37ethanol44 50 24 1111.2HMBS, HFE, ALAD, UROD, CPOX
38protoporphyrinogen448.2UROD, FECH, CPOX, PPOX, ALAD, HMBS
39lead448.1HMBS, HFE, ALAD, FECH, CPOX
40copper44 248.9HFE, ALAD, FECH, CPOX, TF
41uroporphyrin447.9HMBS, HFE, ALAD, UROD, UROS, CPOX
42haem447.9HMBS, HFE, UROD, FECH, CPOX, PPOX
43porphobilinogen44 24 119.9ALAD, UROD, UROS, FECH, CPOX, PPOX
44formyl-coa44 248.9PPOX, CPOX, FECH, UROS, HMBS, ALAD
45protoporphyrin ix44 24 119.7HMBS, ALAD, UROD, FECH, CPOX, TF
465-aminolevulinic acid44 248.0HMBS, HFE, ALAD, UROD, UROS, FECH
47porphyrin447.0PPOX, CPOX, FECH, HMBS, HFE, ALAD
48iron44 247.5HMBS, HFE, ALAD, UROD, UROS, FECH
49heme28 24 118.5UROD, UROS, FECH, CPOX, TF, PPOX

GO Terms for genes affiliated with Porphyria

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

Products for genes affiliated with Porphyria

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Sources for Porphyria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet