MCID: PRP029
MIFTS: 64

Porphyria malady

Metabolic diseases, Blood diseases categories

Summaries for Porphyria

About this section
Sources:
8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
8Disease Ontology, 63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 44Novoseek, 33MedlinePlus, 60UMLS, 27ICD9CM, 56SNOMED-CT, 34MeSH
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Porphyria

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

Genetic Tests for Porphyria

About this section

Anatomical Context for Porphyria

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Porphyria:

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

Animal Models for Porphyria or affiliated genes

About this section
Sources:
36MGI
See all sources

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

About this section
Sources:
50PubMed
See all sources

Articles related to Porphyria:

(show top 50)    (show all 1954)
idTitleAuthorsYear
1
Pseudoexon activation in the HMBS gene as a cause of the nonerythroid form of acute intermittent porphyria. (23609978)
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
Acute intermittent porphyria presenting solely with psychosis: a case report and discussion. (22902088)
2012
5
CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. (20957336)
2011
6
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. (19934113)
2010
7
Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation. (20485863)
2010
8
Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria. (18406650)
2008
9
Simultaneous manifestation of variegate porphyria in monozygotic twins. (18544078)
2008
10
Porphyria cutanea tarda. (18522149)
2007
11
European porphyria initiative (EPI): a platform to develop a common approach to the management of porphyrias and to promote research in the field. (17298223)
2006
12
No significant association between CYP1A2 polymorphism and porphyria cutanea tarda. (15202857)
2004
13
Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard. (14976149)
2004
14
Porphyria cutanea tarda as a predictor of poor response to interferon alfa therapy in chronic hepatitis C. (12737448)
2003
15
Uroporphyrin accumulation in hepatoma cells expressing human or mouse CYP1A2: relation to the role of CYP1A2 in human porphyria cutanea tarda. (12566081)
2003
16
Porphyria cutanea tarda, dermatomyositis and non-Hodgkin lymphoma in virus C infection. (12804996)
2003
17
Atypical attack of acute intermittent porphyria--paresis but no abdominal pain. (12270008)
2002
18
C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients. (11499833)
2001
19
Serum iron and copper and their relations to hepatocellular carcinoma in porphyria cutanea tarda and hemochromatosis patients--case report. (10705984)
2000
20
Haem biosynthesis and human porphyria cutanea tarda: effects of alcohol intake. (11215304)
2000
21
Overt and hidden coinfection with hepatitis B and C viruses in chronic liver disease and porphyria cutanea tarda. (10989688)
2000
22
Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations. (10453740)
1999
23
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
24
Chromosomal linkage analysis of porphyria in mice induced by hexachlorobenzene-iron synergism: a model of sporadic porphyria cutanea tarda. (9918132)
1998
25
Ocular complication in congenital erythropoietic porphyria. (8738466)
1996
26
Family study of acute intermittent porphyria and hereditary coproporphyria in Niigata and Akita Prefectures, Japan. (8826991)
1996
27
Correction of the enzyme deficit of bone marrow cells in congenital erythropoietic porphyria by retroviral gene transfer. (8932010)
1996
28
Epidemiology and clinical characteristics of seizures in patients with acute intermittent porphyria. (8598180)
1996
29
Anesthetic management for acute intermittent porphyria: choice of muscle relaxant. (1931071)
1991
30
Skeletal abnormalities in a case of congenital erythropoietic porphyria. (2252984)
1990
31
Hematin therapy in late onset congenital erythropoietic porphyria. (2207013)
1990
32
Is hexachlorobenzene human overload related to porphyria cutanea tarda? A speculative hypothesis. (2255277)
1990
33
Cimetidine in the treatment of acute intermittent porphyria. (2810642)
1989
34
Porphyria cutanea tarda and chronic myelomonocytic leukemia. (2741930)
1989
35
Acute intermittent porphyria in two patients on anticonvulsant therapy and with normal erythrocyte porphobilinogen deaminase activity. (2497768)
1989
36
Acute hepatic porphyria and hepatocellular carcinoma. (2831925)
1988
37
Acute intermittent porphyria: report of a case. (3598554)
1987
38
Instability of hematin used in the treatment of acute hepatic porphyria. (3724815)
1986
39
Congenital erythropoietic porphyria. (6746533)
1984
40
The first Swedish case of congenital erythropoietic porphyria, with a revised view of the porphyrin excretion pattern in this disease. (6962640)
1982
41
Intranuclear particles in the hepatocytes of patients with non-A, non-B hepatitis and acute intermittent porphyria. (6800872)
1982
42
Alcohol in acute porphyria. (6123048)
1982
43
Congenital porphyria: general and ocular manifestations. (4515536)
1972
44
Uroporphyrinogen 3 cosynthetase activity in fibroblasts from patients with congenital erythropoietic porphyria. (5496227)
1970
45
Urinary excretion of porphobilinogen in acute porphyria. (13853339)
1960
46
Acute porphyria in pregnancy. (13399197)
1957
47
Acute porphyria; report of two cases of the idiopathic type. (13018360)
1952
48
Acute porphyria. II. Some observations on the conversion products from porphobilinogen. (14854800)
1951
49
Acute porphyria with unusual features. (14830883)
1951
50
Studies in congenital porphyria. I. Incorporation of 15N into coproporphyrin, uroporphyrin and hippuric acid. (14791310)
1950

Genetic Variations for Porphyria

About this section

Expression for genes affiliated with Porphyria

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
37NCBI BioSystems Database, 29KEGG, 53Reactome
See all sources

Compounds for genes affiliated with Porphyria

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 49PharmGKB
See all sources

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

About this section
Sources:
16Gene Ontology
See all sources

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

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Porphyria

About this section
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