MCID: PRP029
MIFTS: 56

Porphyria malady

Summaries for Porphyria

Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 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 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. 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: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

Wikipedia:64 The porphyrias are a group of rare inherited or acquired disorders of certain enzymes that normally... more...

Aliases & Classifications for Porphyria

Sources:
8Disease Ontology, 64Wikipedia, 43NIH Rare Diseases, 21Genetics Home Reference, 45Novoseek, 34MedlinePlus, 61UMLS, 27ICD9CM, 57SNOMED-CT, 35MeSH
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Aliases & Descriptions:

porphyria 8 64 43 21 45 34
hematoporphyria 8 64 21
porphyrin disorder 64 21
disorder of porphyrin and hem metabolism 8
disorder of porphyrin metabolism 8
porphyrinopathy 8
porphyria nos 8
porphyrias 61


Related Diseases for Porphyria

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the congenital porphyria family:

acute porphyria porphyria

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

(show top 50)    (show all 208)
idRelated DiseaseScoreTop Affiliating Genes
1acute porphyria31.9ALAS1
2porphyria cutanea tarda31.8HLA-H, HFE
3acute intermittent porphyria31.8PPOX, UROD, FECH, GLUL, PC, CPOX
4congenital porphyria31.5CPOX, ALAD, HMBS, GATA1, UROD, UROS
5variegate porphyria31.5HLA-H, HFE
6hepatitis c31.2TF, HFE, CYP1A2
7hepatoerythropoietic porphyria31.1UROS, UROD
8cutaneous porphyria31.1UROS, UROD
9hemochromatosis30.9HFE, TFRC, TF
10hereditary coproporphyria30.7FECH, PPOX, HMBS, ALAD, CPOX
11erythropoietic protoporphyria30.6CPOX, HMOX1, PPOX, FECH
12viral hepatitis30.3UROD, HFE
13siderosis30.2HFE, TFRC, TF, UROD
14hepatitis b30.2CYP1A2, AHR, HFE, TFRC
15refractory anemia30.1TFRC, EPO, ALAS2
16beta thalassemia29.9TF, TFRC, HFE
17arthritis29.9HFE
18thalassemia29.9GATA1, TF, TFRC, HFE, EPO
19acute leukemia29.9GATA1, TFRC, HFE, EPO
20acute myocardial infarction29.7TFRC
21hemosiderosis29.7EPO, HFE, TF
22chronic myeloid leukemia29.7GATA1, EPO, AHR, HMBS
23congenital erythropoietic porphyria11.0
24acute hepatic porphyria10.7
25hepatitis c virus10.7
26hepatitis a10.6
27chester porphyria10.5
28chronic hepatic porphyria10.5
29hepatitis d10.4
30systemic lupus erythematosus10.4
31hepatitis e10.3
32porphyria cutanea tarda, type ii10.3
33aminolevulinate dehydratase deficiency porphyria10.3
34ala deficiency porphyria10.2
35cutaneous lupus erythematosus10.2
36ala dehydratase deficiency10.2
37discoid lupus erythematosus10.2
38status epilepticus10.1
39acquired immunodeficiency syndrome10.1
40n syndrome10.1
41lead poisoning10.1
42blindness10.1
43subacute cutaneous lupus erythematosus10.1
44lichen planus10.1
45cortical blindness10.1
46alopecia10.1
47autonomic neuropathy10.1
48squamous cell carcinoma10.1
49urticaria10.1
50pyridoxine deficiency10.1

Graphical network of the top 20 diseases related to Porphyria:



Diseases related to porphyria

Clinical Features for Porphyria

Drugs & Therapeutics for Porphyria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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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

Anatomical Context for Porphyria

Animal Models for Porphyria or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Porphyria

Sources:
51PubMed
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Articles related to Porphyria:

(show top 50)    (show all 1954)
idTitleAuthorsYear
1
Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options. (23612387)
2013
2
Deferasirox for porphyria cutanea tarda: a pilot study. (22911183)
2012
3
Absence of functional mutations in the ferroportin-encoding SLC40A1 gene in porphyria cutanea tarda: a series of 37 cases from southern France. (21607294)
2011
4
Acute intermittent porphyria associated with respiratory failure: a multidisciplinary approach. (21687623)
2011
5
Congenital erythropoietic porphyria: two case reports. (21572804)
2011
6
Effective treatment for porphyria cutanea tarda with oral cimetidine. (20629837)
2010
7
Multiplex ligation-dependent probe amplification: a novel approach for genetic diagnosis of Porphyria. (19629139)
2009
8
Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study. (19001803)
2009
9
Porphyria cutanea tarda as rare cutaneous manifestation of hepatic metastases treated with interferon. (17973882)
2007
10
Safety of amlodipine use in patients with acute intermittent porphyria. (17441932)
2007
11
Recurrent variegate porphyria in a pregnant woman. (17130039)
2006
12
Levetiracetam in idiopathic generalised epilepsy and porphyria cutanea tarda. (17163270)
2006
13
A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America. (16433813)
2006
14
Occurrence of porphyria cutanea tarda during peginterferon/ribavirin therapy for chronic viral hepatitis C. (15763350)
2005
15
Gene symbol: HMBS. Disease: Porphyria, acute intermittent. (15991330)
2005
16
Iron status and HFE mutations in first-degree relatives of patients with sporadic porphyria cutanea tarda, in a Mediterranean area. (15788010)
2005
17
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. (15491440)
2004
18
Single-strand conformational polymorphism and denaturing gradient gel electrophoresis in screening for variegate porphyria: identification of two new mutations. (12017191)
2002
19
Influence of hepatitis C virus (HCV) infection on porphyrin and iron metabolism in porphyria cutanea tarda (PCT) patients. (12211718)
2001
20
Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene. (11298551)
2001
21
Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria. (11074242)
2000
22
Effects of diabetes mellitus on patients with acute intermittent porphyria. (10081522)
1999
23
Acute intermittent porphyria presenting postmenopausally for the first time. (10778704)
1999
24
Porphyria cutanea tarda presenting as solar urticaria. (10583087)
1999
25
Denaturing gradient gel electrophoresis analysis of the hemochromatosis (HFE) gene: impact of HFE gene mutations on the manifestation of porphyria cutanea tarda. (10545080)
1999
26
Porphyria cutanea tarda associated with human immunodeficiency virus infection. (9854161)
1998
27
Identification of acute porphyria: evaluation of a commercial screening test for urinary porphobilinogen. (9838985)
1998
28
Congenital erythropoietic porphyria: a case report. (9916395)
1998
29
Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (GA1nther's disease). (9164637)
1997
30
Iron and porphyria cutanea tarda. (9074791)
1997
31
Drug treatment in acute porphyria. (9384458)
1997
32
Variegate porphyria in South Africa, 1688-1996--new developments in an old disease. (9254745)
1997
33
Mapping of the variegate porphyria (VP) gene: contradictory evidence for linkage between VP and microsatellite markers at chromosome 14q32. (8655155)
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
Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity. (1519940)
1992
37
Studies of laminin and type IV collagen in blisters of porphyria cutanea tarda and drug-induced pseudoporphyria. (1880250)
1991
38
Healing by second intention in porphyria cutanea tarda. (3668058)
1987
39
Two cases of infantile porphyria cutanea tarda: successful treatment with oral S-adenosyl-L-methionine and low-dose oral chloroquine. (3567077)
1987
40
The enzymatic defects in porphyria cutanea tarda and variegate porphyria. (6962633)
1982
41
Acute intermittent porphyria--another approach to therapy. (7450138)
1980
42
Seizure management in acute hepatic porphyria: risks of valproate and clonazepam. (6770287)
1980
43
Acute intermittent porphyria and the KlA1ver -- Bucy syndrome. (513431)
1979
44
A spot test for uroporphyrinogen I synthase, the enzyme that is deficient in intermittent acute porphyria. (1000796)
1976
45
Haemodialysis in acute porphyria. (4443572)
1974
46
HEPATIC CUTANEOUS PORPHYRIA. RESPONSE OF A PATIENT TO TREATMENT WITH ADENOSINE-5-MONOPHOSPHATE. (14107614)
1964
47
LIPIDS IN THE BRAIN IN ACUTE PORPHYRIA. (14104750)
1963
48
Porphyria and porphyrinuria; report of a case; review of porphyrin metabolism with a study of congenital porphyria. (20267724)
1947
49
Acute porphyria: Some properties of porphobilinogen. (16747936)
1945
50
THE EXCRETION OF PORPHYRINS IN CONGENITAL PORPHYRIA. (16694624)
1938

Genetic Variations for Porphyria

Expression for genes affiliated with Porphyria

Sources:
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

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome
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Compounds for genes affiliated with Porphyria

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 50PharmGKB
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Compounds related to Porphyria according to GeneCards/GeneDecks:

(show top 50)    (show all 105)
idCompoundScoreTop Affiliating Genes
1cycloheximide4510.8GATA1, TFRC
2uroporphyrin i4510.8HMBS, UROD, UROS, ALAD
3hydroxymethylbilane45 2411.8UROS, FECH, HMBS, PPOX, UROD
4ppix4510.8PPOX, FECH, TFRC, HMBS
5uroporphyrin4510.7UROS, UROD, HFE, HMBS, ALAD, CPOX
6uroporphyrinogen-iii4510.7UROD, PPOX, GATA1, HMBS, CPOX, UROS
7protoporphyrinogen4510.7FECH, UROD, PPOX, GLUL, HMBS, ALAD
8estrogen4510.7UROD, GATA1, GLUL
9iron dextran45 1111.7TFRC, TF, EPO, UROD
10succinylacetone4510.7EPO, TF, TFRC, ALAD
11deferiprone4510.7EPO, TFRC, TF
12zinc protoporphyrin4510.7FECH, TF, TFRC, HMOX1, ALAD, EPO
13aclacinomycin4510.7TFRC, GATA1, HMBS
14lead4510.7HFE, ALAD, HMBS, GLUL, CPOX, GATA1
15deferoxamine45 1111.7FECH, HMOX1, TFRC, TF, EPO
16porphyrin4510.7FECH, UROS, UROD, PPOX, HFE, HMBS
17butyrate4510.7GLUL, ALAS2, HMBS, GATA1, ALAS1
18phenobarbital45 29 1112.7ALAS1, HMOX1, CYP1A2, HMBS, TF, UROD
19fe2+4510.7TFRC, TF, FECH, HFE
20formyl-coa45 2411.7UROD, PPOX, HMBS, ALAS1, ALAD, ALAS2
21copper45 2411.6FECH, CPOX, ALAD
22aluminium45 1111.6TF, EPO, TFRC
23nh4cl4510.6GLUL, TF, PC, TFRC
24pyrrole4510.6FECH, CPOX, UROD
25haem4510.6FECH, UROD, PPOX, HFE, HMBS, HMOX1
26porphobilinogen45 11 2412.6ALAS1, ALAD, CPOX, HMBS, FECH, UROS
27ethanol45 50 11 2413.6HMBS, ALAD, GLUL, HFE, UROD, CPOX
28citrate4510.6PC, HMOX1, GLUL, CPOX, TF, TFRC
29vitamin b64510.6EPO, ALAS2, FECH, ALAS1
30ascorbic acid45 2411.6EPO, ALAD, HMOX1, AHR, GLUL, HFE
31protoporphyrin ix45 11 2412.6EPO, HMBS, HMOX1, ALAD, ALAS2, CPOX
32lactate4510.5GLUL, EPO, TFRC, TF, PC, HMOX1
33glutamine4510.5TFRC, PPOX, TF, PC, GLUL, AHR
34aspartate4510.5PC, HFE, GLUL, TF, EPO, ALAS2
35heme29 11 2412.5UROS, UROD, PPOX, TF, HFE, CYP1A2
365-aminolevulinic acid45 2411.5FECH, UROS, UROD, PPOX, GATA1, TFRC
37oltipraz4510.5CYP1A2, HMOX1, AHR
38dmso4510.5AHR, FECH, GATA1, TFRC, UROD
39vitamin b124510.5TF, ALAD, EPO, TFRC
40oxygen45 2411.5PPOX, FECH, CYP1A2, UROD, GLUL, EPO
41arginine4510.5PPOX, TFRC, AHR, HMBS, ALAS2, HMOX1
42alanine4510.5HMOX1, HFE, PC, CPOX, ALAS2, ALAS1
43actinomycin d4510.5HMOX1, GATA1, TFRC, GLUL, AHR, CPOX
44fenton4510.4TF, EPO, HMOX1
45dexamethasone45 50 29 1113.4GLUL, CYP1A2, PC, AHR
46iron45 2411.4UROD, PPOX, GATA1, TF, TFRC, HFE
47cobalt chloride4510.4TFRC, HMOX1, EPO
48carbon dioxide45 2411.3CPOX, UROD, ALAS2, ALAS1
49superoxide45 2411.2GLUL, FECH, PC, HMOX1, ALAD, CPOX
50nitric oxide45 11 2412.0CPOX, CYP1A2, HMBS, ALAD, HMOX1, GLUL

GO Terms for genes affiliated with Porphyria

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, FECH, PC
3mitochondrionGO:00573910.3CPOX, ALAS2, ALAS1, PC, GLUL, TF
4mitochondrial matrixGO:00575910.2FECH, ALAS2, ALAS1, PC
5MHC class I protein complexGO:04261210.1HLA-H, HFE

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

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Sources for Porphyria

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet