MCID: PRP029
MIFTS: 57

Porphyria malady

Genetic diseases, Rare diseases, Blood diseases, Metabolic diseases categories

Aliases & Classifications for Porphyria

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Porphyria, Aliases & Descriptions:

Name: Porphyria 9 63 41 21 43 32
Hematoporphyria 9 63 21
Porphyrin Disorder 63 21
Disorder of Porphyrin and Hem Metabolism 9
 
Disorders of Porphyrin Metabolism 60
Disorder of Porphyrin Metabolism 9
Porphyrinopathy 9


Classifications:

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


Summaries for Porphyria

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MedlinePlus:32 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 porphyria cutanea tarda and cutaneous porphyria, and has symptoms including abnormality of urine homeostasis, abnormality of the heme biosynthetic pathway and hypertension. 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:9 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:41 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...

Related Diseases for Porphyria

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Diseases in the Porphyria family:

Acute Porphyria Congenital Porphyria
Urod-Related Porphyrias

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

(show top 50)    (show all 211)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria cutanea tarda32.3UROS, UROD
2cutaneous porphyria31.5UROD, UROS
3hepatitis31.3TF, HFE
4hepatitis c31.0HFE, TF
5hemochromatosis31.0HFE, TF
6hypertrichosis30.7UROS, UROD
7viral hepatitis30.3HFE, UROD
8protoporphyria, erythropoietic, autosomal recessive30.2PPOX, CPOX, FECH
9porphyria, acute intermittent30.1HMBS, ALAD, UROD, UROS, FECH, CPOX
10siderosis30.1TF, UROD, HFE
11porphyria, congenital erythropoietic30.1UROS, UROD, ALAD, HMBS, FECH, CPOX
12porphyria variegata30.0PPOX, CPOX, FECH, UROS, UROD, HMBS
13thalassemia30.0HFE, TF
14liver disease30.0HFE, TF
15hemosiderosis29.8HFE, TF
16hemolytic anemia29.8HFE, CPOX, TF
17coproporphyria29.8PPOX, CPOX, FECH, UROS, UROD, ALAD
18liver cirrhosis29.6HMBS, HFE, TF
19acute porphyria11.1
20congenital porphyria10.8
21hepatitis c virus10.7
22lupus erythematosus10.5
23chester porphyria10.5
24hepatocellular carcinoma10.4
25neuropathy10.4
26systemic lupus erythematosus10.4
27leukemia10.3
28aminolevulinate dehydratase deficiency porphyria10.3
29porphyria due to ala dehydratase deficiency10.3
30porphyria, acute hepatic10.2
31scleroderma10.2
32ala deficiency porphyria10.2
33peripheral neuropathy10.2
34ala dehydratase deficiency10.2
35discoid lupus erythematosus10.2
36breast cancer10.1
37status epilepticus10.1
38acquired immunodeficiency syndrome10.1
39cutaneous lupus erythematosus10.1
40pancreatitis10.1
41respiratory failure10.1
42blindness10.1
43subacute cutaneous lupus erythematosus10.1
44uremia10.1TF, ALAD
45myelodysplastic syndrome10.1
46alopecia10.1
47cortical blindness10.1
48autonomic neuropathy10.1
49hyperthyroidism10.1
50pericarditis10.1

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:

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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MalaCards organs/tissues related to Porphyria:

31
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:

35
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 1994)
idTitleAuthorsYear
1
Acute porphyria precipitated by efavirenz. (25909830)
2015
2
Porphyria cutanea tarda and Sjogren's syndrome. (25054769)
2014
3
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria. (24925316)
2014
4
Urinary metabolic fingerprint of acute intermittent porphyria analyzed by (1)H NMR spectroscopy. (24437734)
2014
5
Challenges in the diagnosis and treatment of a case of acute intermittent porphyria in India. (24029211)
2013
6
Non-classical congenital adrenal hyperplasia in association with porphyria cutanea tarda: co-incidence or trigger? (22783026)
2012
7
An atypical case of Guillain-BarrAc syndrome: acute intermittent porphyria. (22273750)
2012
8
Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients. (20517178)
2010
9
Posterior reversible encephalopathy syndrome in a patient with acute intermittent porphyria. (20012311)
2010
10
Variegate porphyria induces plasma and neutrophil oxidative stress: effects of dietary supplementation with vitamins E and C. (19883519)
2010
11
Thomas Wakley, King George III and acute porphyria. (19966121)
2009
12
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. (19233912)
2009
13
Porphyria cutanea tarda as a complication of therapy for chronic hepatitis C. (18855993)
2008
14
Anticancer therapy in patients with porphyrias: evidence today. (18324878)
2008
15
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
16
Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. (17137171)
2006
17
Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection. (16922948)
2006
18
Porphyria cutanea tarda masquerading as chronic hand eczema. (15206707)
2004
19
Refractory status epilepticus due to acute hepatic porphyria in a pregnant woman: induced abortion as the sole therapeutic option? (15469454)
2004
20
International air travel: a risk factor for attacks in acute intermittent porphyria. (12927685)
2003
21
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. (11855561)
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
Bile porphyrin analysis in the evaluation of variegate porphyria. (2020296)
1991
40
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. (2243121)
1990
41
Porphyria cutanea tarda and HIV infection. (2252569)
1990
42
A classification of liver tumours occurring in chronic hepatic porphyria. (2839017)
1987
43
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
44
Acute hepatic porphyria syndrome with porphobilinogen synthase defect. (7450139)
1980
45
Congenital erythropoietic porphyria--a relatively benign variant (2 cases). (7462130)
1980
46
Acute intermittent porphyria associated with inappropriate antidiuretic hormone secretion, hypokalemic alkalosis, and secondary hyperaldosteronism. (472850)
1979
47
Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase. (458830)
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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Search GEO for disease gene expression data for Porphyria.

Pathways for genes affiliated with Porphyria

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Pathways related to Porphyria according to GeneCards Suite gene sharing:

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 biosynthesis36
heme degradation36
Heme Biosynthesis36
heme biosynthesis36
heme biosynthesis from uroporphyrinogen-III I36
7.4HMBS, PPOX, CPOX, FECH, UROS, UROD

Compounds for genes affiliated with Porphyria

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Sources:
24HMDB, 43Novoseek, 12DrugBank, 28IUPHAR, 49PharmGKB
See all sources

Compounds related to Porphyria according to GeneCards Suite gene sharing:

(show all 49)
idCompoundScoreTop Affiliating Genes
1Uroporphyrinogen III2410.1UROS, UROD
2uroporphyrinogen i43 2411.1UROS, UROD
3coproporphyrin i43 1211.0UROD, ALAD
4mspi439.9HMBS, ALAD
5Protoporphyrinogen IX249.9PPOX, CPOX
6iron dextran43 1210.9UROD, TF
7succinylacetone439.8TF, ALAD
8ethylenediaminetetraacetic acid439.8FECH, ALAD
9Coproporphyrin III24 1210.8CPOX, UROD
10porphyrinogen439.8CPOX, UROD
11mercury439.7UROD, CPOX
12fe3+439.7TF, FECH
13ppix439.7PPOX, FECH, HMBS
14propionate439.7UROD, CPOX
15selenium43 2410.6ALAD, TF
16deferoxamine43 1210.6FECH, TF
17phenobarbital43 28 49 1212.6HMBS, UROD, TF
18vitamin b12439.5ALAD, TF
19Coproporphyrinogen III249.5CPOX, UROS, UROD
20carbon dioxide43 2410.4UROD, CPOX
21zinc protoporphyrin439.4ALAD, FECH, TF
22uroporphyrin i439.3UROS, UROD, ALAD, HMBS
23pyrrole439.3CPOX, FECH, UROD
24succinate439.2CPOX, TF
25Water249.1HMBS, UROS, CPOX, PPOX
26lactate439.0TF, CPOX, ALAD
27fe2+439.0TF, FECH, HFE
28superoxide43 249.9CPOX, FECH, ALAD
29hydroxymethylbilane43 249.9HMBS, UROD, UROS, FECH, PPOX
30ascorbic acid43 249.9TF, ALAD, HFE
31uric acid43 249.9HFE, ALAD
32nitric oxide43 24 1210.9CPOX, FECH, ALAD, HMBS
33oxygen43 249.8PPOX, CPOX, FECH, UROD
34histidine438.8FECH, UROD, HFE, HMBS
35uroporphyrinogen-iii438.3PPOX, HMBS, UROD, UROS, FECH, CPOX
36alanine438.3HFE, FECH, CPOX, TF
37ethanol43 49 24 1211.2HMBS, HFE, ALAD, UROD, CPOX
38protoporphyrinogen438.2UROD, FECH, CPOX, PPOX, ALAD, HMBS
39lead438.1HMBS, HFE, ALAD, FECH, CPOX
40copper43 248.9HFE, ALAD, FECH, CPOX, TF
41uroporphyrin437.9HMBS, HFE, ALAD, UROD, UROS, CPOX
42haem437.9HMBS, HFE, UROD, FECH, CPOX, PPOX
43porphobilinogen43 24 129.9ALAD, UROD, UROS, FECH, CPOX, PPOX
44formyl-coa43 248.9PPOX, CPOX, FECH, UROS, HMBS, ALAD
45protoporphyrin ix43 24 129.7HMBS, ALAD, UROD, FECH, CPOX, TF
465-aminolevulinic acid43 248.0HMBS, HFE, ALAD, UROD, UROS, FECH
47porphyrin437.0PPOX, CPOX, FECH, HMBS, HFE, ALAD
48iron43 247.5HMBS, HFE, ALAD, UROD, UROS, FECH
49heme28 24 128.5UROD, UROS, FECH, CPOX, TF, PPOX

GO Terms for genes affiliated with Porphyria

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Cellular components related to Porphyria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial intermembrane spaceGO:00057589.2CPOX, PPOX
2recycling endosomeGO:00550379.1HFE, TF
3basal part of cellGO:00451789.0HFE, TF

Biological processes related to Porphyria according to GeneCards Suite gene sharing:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1response to insecticideGO:00170859.4FECH, CPOX
2response to methylmercuryGO:00515979.3CPOX, FECH
3response to arsenic-containing substanceGO:00466859.2FECH, CPOX
4cellular iron ion homeostasisGO:00068799.1HFE, TF
5response to lead ionGO:00102889.0FECH, CPOX
6protoporphyrinogen IX biosynthetic processGO:00067828.1HMBS, ALAD, UROD, UROS, CPOX, PPOX
7porphyrin-containing compound metabolic processGO:00067787.6HMBS, ALAD, UROD, UROS, FECH, CPOX
8heme biosynthetic processGO:00067837.6CPOX, PPOX, FECH, UROS, UROD, HMBS
9small molecule metabolic processGO:00442817.5PPOX, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet