MCID: PRP029
MIFTS: 64

Porphyria malady

Metabolic diseases, Blood diseases categories

Summaries for Porphyria

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 32MalaCards
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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: Porphyria, also known as hematoporphyria, is related to acute porphyria and porphyria cutanea tarda. An important gene associated with Porphyria is HMBS (hydroxymethylbilane synthase), and among its related pathways are Iron metabolism in placenta and Glucuronidation. The compounds cycloheximide and uroporphyrin i have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and bone marrow, and related mouse phenotypes are integument and liver/biliary system.

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:63 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, 63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 44Novoseek, 33MedlinePlus, 60UMLS, 27ICD9CM, 56SNOMED-CT, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases
Anatomical: Blood diseases


Aliases & Descriptions:

porphyria 8 63 42 21 44 33
hematoporphyria 8 63 21
porphyrin disorder 63 21
disorder of porphyrin and hem metabolism 8
disorder of porphyrin metabolism 8
porphyrinopathy 8
porphyria nos 8
porphyrias 60


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 236)
idRelated DiseaseScoreTop Affiliating Genes
1acute porphyria31.9ALAS1
2porphyria cutanea tarda31.7HLA-H, HFE
3acute intermittent porphyria31.7PPOX, UROD, FECH, GLUL, PC, CPOX
4variegate porphyria31.4HLA-H, HFE
5hepatitis31.4TF, HFE, CYP1A2
6hepatitis c31.1TF, HFE, CYP1A2
7hepatoerythropoietic porphyria31.0UROS, UROD
8cutaneous porphyria31.0UROS, UROD
9hemochromatosis30.8HFE, TFRC, TF
10congenital porphyria30.7CPOX, ALAD, HMBS, GATA1, UROD, UROS
11hereditary coproporphyria30.6FECH, PPOX, HMBS, ALAD, CPOX
12erythropoietic protoporphyria30.6CPOX, HMOX1, PPOX, FECH
13hepatocellular carcinoma30.5UROD, TF, HFE, GLUL, AHR, CYP1A2
14leukemia30.4GATA1, TFRC, HFE, EPO, AHR, CYP1A2
15viral hepatitis30.3UROD, HFE
16hypertrichosis30.2UROS, UROD
17siderosis30.2HFE, TFRC, TF, UROD
18diabetes mellitus30.2HMOX1, HFE, TF
19hepatitis b30.1CYP1A2, AHR, HFE, TFRC
20breast cancer30.1GLUL, AHR, CYP1A2, HMBS, HMOX1, CPOX
21hemolytic anemia30.0TF, TFRC, HFE, EPO, CPOX
22beta thalassemia29.9TF, TFRC, HFE
23arthritis29.9HFE
24acute leukemia29.9GATA1, TFRC, HFE, EPO
25myelofibrosis29.9GATA1, EPO
26malaria29.7ALAD, TFRC
27myeloid leukemia29.7TFRC, GATA1
28hemosiderosis29.7EPO, HFE, TF
29acute myocardial infarction29.7TFRC
30colon cancer29.7GLUL, CYP1A2, CPOX
31rheumatoid arthritis29.7TFRC, HFE
32multiple sclerosis29.7TFRC
33alpha thalassemia29.7GATA1, TF, TFRC, HFE, EPO
34liver cirrhosis29.7TF, HFE, GLUL, CYP1A2, HMBS
35polycythemia29.7EPO, TFRC
36myocardial infarction29.7HFE
37myeloma29.7EPO, GLUL, TFRC
38schizophrenia29.7GLUL, CYP1A2, HMBS
39alzheimer's disease29.7HLA-H, HFE
40chronic myeloid leukemia29.7GATA1, EPO, AHR, HMBS
41congenital erythropoietic porphyria10.9
42hepatitis a10.6
43lupus erythematosus10.5
44chester porphyria10.4
45systemic lupus erythematosus10.4
46neuropathy10.4
47acute hepatic porphyria10.3
48hypertension10.3
49porphyria cutanea tarda, type ii10.3
50liver disease10.2

Graphical network of the top 20 diseases related to Porphyria:



Diseases related to porphyria

Clinical Features for Porphyria

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Drugs & Therapeutics for Porphyria

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Porphyria

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Anatomical Context for Porphyria

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32MalaCards
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MalaCards organs/tissues related to Porphyria:

32
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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36MGI
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MGI Mouse Phenotypes related to Porphyria:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:001077110.4AHR, GATA1, UROS, FECH
2MP:000537010.2HMOX1, FECH, UROS, UROD, GATA1, TFRC
3MP:001076810.0TFRC, TF, GATA1, UROD, UROS, FECH
4MP:000537610.0TFRC, TF, GATA1, UROD, UROS, FECH
5MP:000539710.0FECH, UROS, GATA1, TF, TFRC, HFE
6MP:00053789.8TF, GATA1, UROS, FECH, TFRC, HFE

Publications for Porphyria

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50PubMed
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Articles related to Porphyria:

(show top 50)    (show all 1954)
idTitleAuthorsYear
1
Porphyria cutanea tarda in a hemodialysis patient. (22753666)
2013
2
Drugs in porphyria: From observation to a modern algorithm-based system for the prediction of porphyrogenicity. (21704073)
2011
3
Excess risk of adverse pregnancy outcomes in women with porphyria: a population-based cohort study. (20978938)
2011
4
Spectrum of emergency department presentation in patients of acute intermittent porphyria: experience from a North Indian tertiary care center. (20228472)
2010
5
Porphyria cutanea tarda in a chronic hemodialysis patient. (20814132)
2010
6
Hepatoerythropoietic porphyria and familial porphyria cutanea tarda in Spanish patients: G281E mutation in the uroporphyrinogen decarboxylase gene. (21079081)
2010
7
Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes. (19268004)
2009
8
Congenital erythropoietic porphyria in a longhorn calf. (19966335)
2009
9
Oral arsenic treatment of leukemia and the risk of porphyria. (18829106)
2009
10
Acute intermittent porphyria presenting as acute pancreatitis and posterior reversible encephalopathy syndrome. (18975524)
2008
11
Acute intermittent porphyria, Rasmussen encephalitis, or both? (17608316)
2007
12
Porphyria cutanea tarda in an HIV-1-infected patient after the initiation of tipranavir/ritonavir: case report. (17589203)
2007
13
Hepatitis C, hemochromatosis and porphyria cutanea tarda]. (16555178)
2006
14
Dual porphyria with mutations in both the UROD and HMBS genes. (16390615)
2006
15
Gene symbol: HMBS. Disease: Porphyria, acute intermittent. (15988829)
2005
16
Gene symbol: UROD. Disease: Porphyria, cutanea tarda. (12974281)
2003
17
Porphyria cutanea tarda with menopausal exacerbation: the possible role of menstruation as natural phlebotomy. (12963930)
2003
18
Cytochrome p450A1 polymorphisms in a Caucasian population with porphyria cutanea tarda. (14714565)
2003
19
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
20
Autoimmunity and HCV infection in porphyria cutanea tarda: a controlled study. (11929046)
2002
21
Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients. (11474578)
2001
22
Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria. (10944860)
2000
23
Multinodular fatty change in the liver in patients with chronic hepatic porphyria. (10475932)
1999
24
Acute porphyria: the cost of suspicion. (10625031)
1999
25
Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda. (9500716)
1998
26
Porphyria cutanea tarda induced by the use of pravastatin. (9801704)
1998
27
Cytochrome P450 induction, uroporphyrinogen decarboxylase depression, porphyrin accumulation and excretion, and gender influence in a 3-week rat model of porphyria cutanea tarda. (9439724)
1997
28
Geographical differences in prevalence of hepatitis C virus infection in PCT (porphyria cutanea tarda) (9068757)
1997
29
Association of porphyria cutanea tarda and lichen planus in a patient with chronic hepatitis C virus infection. (7756135)
1995
30
Porphyria cutanea tarda induced by HMG CoA reductase inhibitors: simvastatin, pravastatin]. (7631993)
1994
31
Is hepatitis C virus infection a trigger of porphyria cutanea tarda? (7681135)
1993
32
Hepatoerythropoietic porphyria precipitated by viral hepatitis. (7902313)
1993
33
Congenital Erythropoietic Porphyria (24027798)
1993
34
Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene. (1577472)
1992
35
Porphyria cutanea tarda and HIV infection. (2252569)
1990
36
LHRH analogue treatment for the prevention of premenstrual attacks of acute porphyria. (2117297)
1990
37
A classification of liver tumours occurring in chronic hepatic porphyria. (2839017)
1987
38
Acute intermittent porphyria (a report of two cases). (6527314)
1984
39
Acute intermittent porphyria in schizophrenics. (6682962)
1983
40
Variegate porphyria in New England. (7077804)
1982
41
Experience with the red cell uroporphyrinogen synthase (URO-S) assay in kindreds with acute intermittent porphyria (AIP). (7450137)
1980
42
Decreased activity of hepatic uroporphyrinogen decarboxylase in sporadic porphyria cutanea tarda. (661926)
1978
43
Prophyrin precursors in blood, urine and cerebrospinal fluid in acute porphyria. (897913)
1977
44
Congenital porphyria. (4851156)
1974
45
Preliminary studies on bile porphyrins in the quiescent phase of variegate porphyria. (5762132)
1969
46
Pyridoxine deficiency and acute porphyria. (5341521)
1967
47
Bovine congenital porphyria (pink tooth), with a note on five cases observed in Jamaica. (13585840)
1958
48
Acute porphyria in a Negro. (15439634)
1950
49
Acute porphyria with spinal fluid changes. (14771747)
1950
50
Salt metabolism in acute porphyria; report of two cases. (20268701)
1947

Genetic Variations for Porphyria

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Expression for genes affiliated with Porphyria

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1BioGPS, 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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37NCBI BioSystems Database, 29KEGG, 53Reactome
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Compounds for genes affiliated with Porphyria

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44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 49PharmGKB
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Compounds related to Porphyria according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1cycloheximide4410.8GATA1, TFRC
2uroporphyrin i4410.8HMBS, UROD, UROS, ALAD
3hydroxymethylbilane44 2411.8UROS, FECH, HMBS, PPOX, UROD
4ppix4410.8PPOX, FECH, TFRC, HMBS
5uroporphyrin4410.7UROS, UROD, HFE, HMBS, ALAD, CPOX
6uroporphyrinogen-iii4410.7UROD, PPOX, GATA1, HMBS, CPOX, UROS
7protoporphyrinogen4410.7FECH, UROD, PPOX, GLUL, HMBS, ALAD
8estrogen4410.7UROD, GATA1, GLUL
9iron dextran44 1111.7TFRC, TF, EPO, UROD
10succinylacetone4410.7EPO, TF, TFRC, ALAD
11deferiprone4410.7EPO, TFRC, TF
12zinc protoporphyrin4410.7FECH, TF, TFRC, HMOX1, ALAD, EPO
13aclacinomycin4410.7TFRC, GATA1, HMBS
14lead4410.7HFE, ALAD, HMBS, GLUL, CPOX, GATA1
15deferoxamine44 1111.7FECH, HMOX1, TFRC, TF, EPO
16porphyrin4410.7FECH, UROS, UROD, PPOX, HFE, HMBS
17butyrate4410.7GLUL, ALAS2, HMBS, GATA1, ALAS1
18phenobarbital44 28 1112.7ALAS1, HMOX1, CYP1A2, HMBS, TF, UROD
19fe2+4410.7TFRC, TF, FECH, HFE
20formyl-coa44 2411.7UROD, PPOX, HMBS, ALAS1, ALAD, ALAS2
21copper44 2411.6FECH, CPOX, ALAD
22aluminium44 1111.6TF, EPO, TFRC
23nh4cl4410.6GLUL, TF, PC, TFRC
24pyrrole4410.6FECH, CPOX, UROD
25haem4410.6FECH, UROD, PPOX, HFE, HMBS, HMOX1
26porphobilinogen44 11 2412.6ALAS1, ALAD, CPOX, HMBS, FECH, UROS
27ethanol44 49 11 2413.6HMBS, ALAD, GLUL, HFE, UROD, CPOX
28citrate4410.6PC, HMOX1, GLUL, CPOX, TF, TFRC
29vitamin b64410.6EPO, ALAS2, FECH, ALAS1
30ascorbic acid44 2411.6EPO, ALAD, HMOX1, AHR, GLUL, HFE
31protoporphyrin ix44 11 2412.6EPO, HMBS, HMOX1, ALAD, ALAS2, CPOX
32lactate4410.5GLUL, EPO, TFRC, TF, PC, HMOX1
33glutamine4410.5TFRC, PPOX, TF, PC, GLUL, AHR
34aspartate4410.5PC, HFE, GLUL, TF, EPO, ALAS2
35heme28 11 2412.5UROS, UROD, PPOX, TF, HFE, CYP1A2
365-aminolevulinic acid44 2411.5FECH, UROS, UROD, PPOX, GATA1, TFRC
37oltipraz4410.5CYP1A2, HMOX1, AHR
38dmso4410.5AHR, FECH, GATA1, TFRC, UROD
39vitamin b124410.5TF, ALAD, EPO, TFRC
40oxygen44 2411.5PPOX, FECH, CYP1A2, UROD, GLUL, EPO
41arginine4410.5PPOX, TFRC, AHR, HMBS, ALAS2, HMOX1
42alanine4410.5HMOX1, HFE, PC, CPOX, ALAS2, ALAS1
43actinomycin d4410.5HMOX1, GATA1, TFRC, GLUL, AHR, CPOX
44fenton4410.4TF, EPO, HMOX1
45dexamethasone44 49 28 1113.4GLUL, CYP1A2, PC, AHR
46iron44 2411.4UROD, PPOX, GATA1, TF, TFRC, HFE
47cobalt chloride4410.4TFRC, HMOX1, EPO
48carbon dioxide44 2411.3CPOX, UROD, ALAS2, ALAS1
49superoxide44 2411.2GLUL, FECH, PC, HMOX1, ALAD, CPOX
50nitric oxide44 11 2412.0CPOX, CYP1A2, HMBS, ALAD, HMOX1, GLUL

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
1basal part of cellGO:04517810.4HFE, TF
2mitochondrial inner membraneGO:00574310.3CPOX, ALAS2, PC, FECH
3mitochondrionGO:00573910.3CPOX, UROS, TF, GLUL, PC, ALAS1
4mitochondrial matrixGO:00575910.2FECH, PC, ALAS1, ALAS2
5MHC class I protein complexGO:04261210.1HFE, HLA-H

Biological processes related to Porphyria according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1protoporphyrinogen IX biosynthetic processGO:00678210.4UROS, CPOX, ALAS2, ALAD, ALAS1, HMBS
2cellular response to cadmium ionGO:07127610.4HMOX1, CYP1A2
3heme biosynthetic processGO:00678310.4HMBS, PPOX, UROD, UROS, FECH, ALAS1
4cellular iron ion homeostasisGO:00687910.3TF, TFRC, HFE, HMOX1, ALAS2
5erythrocyte differentiationGO:03021810.3ALAS2, GATA1, FECH
6porphyrin-containing compound metabolic processGO:00677810.3CPOX, ALAS2, ALAD, ALAS1, HMOX1, HMBS
7small molecule metabolic processGO:04428110.1GLUL, PPOX, UROD, UROS, FECH, PC
8hemoglobin biosynthetic processGO:04254110.1ALAS2, EPO

Molecular functions related to Porphyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
15-aminolevulinate synthase activityGO:00387010.4ALAS2, ALAS1

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet