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MCID: PRP029
MIFTS: 61

Porphyria

Categories: Metabolic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Porphyria

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MalaCards integrated aliases for Porphyria:

Name: Porphyria 12 76 53 25 37 29 55 43 15
Hematoporphyria 12 25
Disorder of Porphyrin and Hem Metabolism 12
Disorders of Porphyrin Metabolism 73
Disorder of Porphyrin Metabolism 12
Porphyrin Disorder 25
Porphyrinopathy 12
Porphyrias 44

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
See all MalaCards categories (disease lists)


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Summaries for Porphyria

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MedlinePlus : 43 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, type i and familial porphyria cutanea tarda, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Porphyria is HMBS (Hydroxymethylbilane Synthase), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and Metabolism. The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and bone, and related phenotypes are hypertension and seizures

Disease Ontology : 12 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 : 25 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 : 53 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 various types have different courses of treatment, and may include bone marrow transplant.Most porphyrias are inherited conditions with either an autosomal dominant or autosomal recessive pattern of inheritance. However, some forms of porphyria can be caused by environmental factors such as infections or exposures to certain prescription drugs. Porphyrias caused by environmental factors are called sporadic or acquired porphyria.

Wikipedia : 76 Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting... more...

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Related Diseases for Porphyria

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Diseases in the Porphyria family:

Acute Porphyria

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

(show top 50) (show all 262)
# Related Disease Score Top Affiliating Genes
1 porphyria cutanea tarda, type i 34.1 HFE UROD
2 familial porphyria cutanea tarda 33.7 HFE UROD
3 porphyria variegata 33.6 ALAD CPOX FECH HFE HMBS PPOX
4 porphyria, acute intermittent 33.5 ALAD ALAS1 CPOX FECH HMBS PPOX
5 porphyria, congenital erythropoietic 33.3 ALAD CPOX FECH GATA1 HMBS UROD
6 cutaneous porphyria 33.3 ALAS2 CPOX FECH UROD UROS
7 porphyria cutanea tarda 32.8 ALAD ALAS1 CPOX CYP1A2 FECH HFE
8 acute porphyria 32.5 ALAD ALAS1 ALAS2 CPOX FECH HFE
9 protoporphyria, erythropoietic, 1 32.3 ALAD ALAS2 CPOX FECH HMBS PPOX
10 coproporphyria, hereditary 32.0 ALAD ALAS1 ALAS2 CPOX FECH GATA1
11 hemosiderosis 30.4 HFE TF
12 siderosis 30.0 HFE TF UROD
13 hemochromatosis, type 1 29.8 ALAS2 HFE TF UROD
14 inherited metabolic disorder 29.7 FECH HFE TF
15 thalassemia 29.5 GATA1 HFE TF
16 beta-thalassemia 29.5 GATA1 HFE TF
17 iron metabolism disease 29.5 HFE TF
18 porphyria, acute hepatic 12.7
19 chester porphyria 12.5
20 aminolevulinic acid dehydratase deficiency porphyria 12.4
21 aminolevulinate dehydratase deficiency porphyria 12.2
22 protoporphyria, erythropoietic, x-linked 11.7
23 protoporphyria, erythropoietic, 2 11.1
24 maleylacetoacetate isomerase deficiency 11.0
25 hepatitis 10.6
26 hepatitis c 10.6
27 hepatitis c virus 10.5
28 erythropoietic uroporphyria associated with myeloid malignancy 10.5
29 viral infectious disease 10.4
30 lupus erythematosus 10.4
31 hepatocellular carcinoma 10.3
32 neuropathy 10.3
33 encephalopathy 10.3
34 systemic lupus erythematosus 10.2
35 leukemia 10.2
36 liver disease 10.2
37 epilepsy 10.2
38 hyperphenylalaninemia due to dehydratase deficiency 10.2
39 bilirubin metabolic disorder 10.1
40 x-linked protoporphyria 10.1 ALAS2 FECH
41 viral hepatitis 10.1
42 hyperferritinemia with or without cataract 10.1 HFE TF
43 hemochromatosis, type 4 10.0 HFE TF
44 diabetes mellitus 10.0
45 human immunodeficiency virus infectious disease 10.0
46 discoid lupus erythematosus 10.0
47 iron overload in africa 10.0 HFE TF
48 isolated agammaglobulinemia 10.0
49 alopecia 10.0
50 cutaneous lupus erythematosus 10.0

Comorbidity relations with Porphyria via Phenotypic Disease Network (PDN):


Hypertension, Essential

Graphical network of the top 20 diseases related to Porphyria:



Diseases related to Porphyria
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Symptoms & Phenotypes for Porphyria

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Human phenotypes related to Porphyria:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 frequent (33%) HP:0000822
2 seizures 32 occasional (7.5%) HP:0001250
3 muscle weakness 32 occasional (7.5%) HP:0001324
4 nausea and vomiting 32 frequent (33%) HP:0002017
5 constipation 32 frequent (33%) HP:0002019
6 sleep disturbance 32 frequent (33%) HP:0002360
7 hallucinations 32 occasional (7.5%) HP:0000738
8 fever 32 occasional (7.5%) HP:0001945
9 fatigue 32 frequent (33%) HP:0012378
10 abdominal pain 32 frequent (33%) HP:0002027
11 abnormal blistering of the skin 32 frequent (33%) HP:0008066
12 pruritus 32 frequent (33%) HP:0000989
13 anorexia 32 frequent (33%) HP:0002039
14 paresthesia 32 occasional (7.5%) HP:0003401
15 chest pain 32 frequent (33%) HP:0100749
16 diarrhea 32 frequent (33%) HP:0002014
17 cerebral palsy 32 occasional (7.5%) HP:0100021
18 cutaneous photosensitivity 32 frequent (33%) HP:0000992
19 abnormality of skin pigmentation 32 frequent (33%) HP:0001000
20 abnormal urinary color 32 hallmark (90%) HP:0012086
21 abnormality of the heme biosynthetic pathway 32 hallmark (90%) HP:0010472
22 dupuytren contracture 32 occasional (7.5%) HP:0005679

UMLS symptoms related to Porphyria:


nausea and vomiting, constipation, abdominal pain, pruritus, diarrhea, icterus, exanthema, dyspepsia, heartburn, gastrointestinal gas

GenomeRNAi Phenotypes related to Porphyria according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased number of mitotic cells GR00098-A-3 8.8 CPOX GATA1 TF

MGI Mouse Phenotypes related to Porphyria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 ALAS2 CPOX CYP1A2 FECH GATA1 HFE
2 mortality/aging MP:0010768 9.44 ALAS1 ALAS2 CPOX CYP1A2 DPAGT1 FECH
3 liver/biliary system MP:0005370 9.43 CYP1A2 FECH GATA1 HFE UROD UROS
Sources

Drugs & Therapeutics for Porphyria

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Drugs for Porphyria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 77)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 3,Phase 2,Not Applicable 7439-89-6 23925
2
Deferasirox Approved, Investigational Phase 3,Phase 2 201530-41-8 5493381
3
Colestipol Approved Phase 2, Phase 3 26658-42-4
4 Hormones Phase 3,Phase 2,Not Applicable
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Not Applicable
6 Hormone Antagonists Phase 3,Phase 2,Not Applicable
7 alpha-MSH Phase 3,Phase 2 581-05-5
8 Iron Chelating Agents Phase 3,Phase 2
9 Chelating Agents Phase 3,Phase 2
10 Lipid Regulating Agents Phase 2, Phase 3,Not Applicable
11 Antimetabolites Phase 2, Phase 3,Not Applicable
12 Hypolipidemic Agents Phase 2, Phase 3,Not Applicable
13 cysteine Phase 3,Not Applicable
14
Hydroxychloroquine Approved Phase 2 118-42-3 3652
15
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
16
Ledipasvir Approved Phase 2 1256388-51-8 67505836
17 Tin mesoporphyrin Phase 1, Phase 2,Phase 2
18
Tin Phase 1, Phase 2,Phase 2 7440-31-5
19 Anti-Infective Agents Phase 2,Not Applicable
20 Antiparasitic Agents Phase 2
21 Antirheumatic Agents Phase 2
22 Antimalarials Phase 2
23 Antiprotozoal Agents Phase 2
24 Antiviral Agents Phase 2
25 Ledipasvir, sofosbuvir drug combination Phase 2
26
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
27
Chlorpromazine Approved, Investigational, Vet_approved Phase 1 50-53-3 2726
28
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
29
Caffeine Approved Phase 1 58-08-2 2519
30
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
31
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
32
Guaifenesin Approved, Investigational, Vet_approved Phase 1 93-14-1 3516
33
Losartan Approved Phase 1 114798-26-4 3961
34
Tocopherol Approved, Investigational Phase 1 1406-66-2 14986
35
Pentoxifylline Approved, Investigational Phase 1 6493-05-6 4740
36
Vitamin E Approved, Nutraceutical, Vet_approved Phase 1 59-02-9 14985
37 Tocotrienol Investigational Phase 1 6829-55-6
38 Liver Extracts Phase 1
39 Central Nervous System Depressants Phase 1
40 Peripheral Nervous System Agents Phase 1
41 Dopamine Antagonists Phase 1
42 Antiemetics Phase 1
43 Dopamine Agents Phase 1
44 Antipsychotic Agents Phase 1
45 Tranquilizing Agents Phase 1
46 Neurotransmitter Agents Phase 1
47 Autonomic Agents Phase 1
48 Psychotropic Drugs Phase 1
49 Gastrointestinal Agents Phase 1
50 Micronutrients Phase 1,Not Applicable

Interventional clinical trials:

(show all 47)
# Name Status NCT ID Phase Drugs
1 Phase III Confirmatory Study in Erythropoietic Protoporphyria Unknown status NCT01605136 Phase 3 Afamelanotide;Placebo
2 Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda Completed NCT00599326 Phase 3 Deferasirox
3 Sorbent Therapy of the Cutaneous Porphyrias Completed NCT01422915 Phase 2, Phase 3 Colestipol
4 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2, Phase 3 recombinant human porphobilinogen deaminase (Porphozym)
5 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
6 Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT00979745 Phase 3 Afamelanotide;Placebo
7 ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP) Active, not recruiting NCT03338816 Phase 3 Givosiran;Placebo
8 Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea Tarda Unknown status NCT01284946 Phase 2 Exjade
9 Heme Arginate in Cardiac Surgery Patients Unknown status NCT02142699 Phase 2 Heme arginate
10 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
11 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
12 Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT01097044 Phase 2 Afamelanotide;Placebo
13 Panhematin for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
14 Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria Recruiting NCT02180412 Phase 2
15 Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea Tarda Recruiting NCT01573754 Phase 2 Hydroxychloroquine
16 Harvoni Treatment Porphyria Cutanea Tarda Recruiting NCT03118674 Phase 2 Harvoni
17 Study to Evaluate Efficacy, Safety, and Tolerability of MT‑7117 in Subjects With Erythropoietic Protoporphyria Recruiting NCT03520036 Phase 2 MT-7117 low dose;MT-7117 high dose;Placebo
18 A Study to Evaluate Long-term Safety and Clinical Activity of Givosiran (ALN-AS1) in Patient With Acute Intermittent Porphyria (AIP) Active, not recruiting NCT02949830 Phase 1, Phase 2 givosiran (ALN-AS1)
19 Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
20 A Phase 1 Study of Givosiran (ALN-AS1) in Patients With Acute Intermittent Porphyria (AIP) Completed NCT02452372 Phase 1 givosiran (ALN-AS1);Sterile Normal Saline (0.9% NaCl)
21 Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of Porphyria Completed NCT00004398 Phase 1 heme arginate;tin mesoporphyrin
22 Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of Porphyria Completed NCT00004397 Phase 1 heme arginate;tin mesoporphyrin
23 Hemin in Healthy Subjects Completed NCT00882804 Phase 1 Hemin infusion;placebo infusion
24 Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine Hydrochloride Completed NCT02943213 Phase 1 Chlorpromazine Hydrochloride
25 A Study to Investigate the Interaction Between Givosiran and a 5-probe Drug Cocktail in Patients With Acute Intermittent Porphyria (AIP) Active, not recruiting NCT03505853 Phase 1 Givosiran;5-probe cocktail
26 PentoxIfylline and Tocopherol for the Treatment of Post-radiotherapy Fibrosis in Head and Neck Cancer Patients Not yet recruiting NCT03723291 Phase 1
27 Studies in Porphyria I: Characterization of Enzyme Defects Unknown status NCT00004331
28 Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria Unknown status NCT00206869 Not Applicable
29 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
30 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
31 Study of Nutritional Factors in Porphyria Completed NCT00004788
32 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 Not Applicable luteinizing hormone-releasing factor
33 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
34 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
35 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 Not Applicable cysteine hydrochloride
36 Light Exposure Patterns and Symptoms Among Patients With Erythropoietic Protoporphyria Completed NCT03682731
37 Study to Describe the Actual Situation of Hepatitis C Treatment in Brazil Completed NCT02773394
38 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
39 Longitudinal Study of the Porphyrias Recruiting NCT01561157
40 Clinical Diagnosis of Acute Porphyria Recruiting NCT01568554
41 Oral Iron for Erythropoietic Protoporphyrias Recruiting NCT02979249 Not Applicable Oral Iron
42 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)) Active, not recruiting NCT01880983
43 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Active, not recruiting NCT01688895
44 Acute Porphyria Biomarkers for Disease Activity Enrolling by invitation NCT02935400 Hemin
45 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Not yet recruiting NCT01617642
46 INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP Terminated NCT03547297
47 Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria Terminated NCT01550705 Not Applicable Isoniazid

Search NIH Clinical Center for Porphyria

Cochrane evidence based reviews: porphyrias

Sources

Genetic Tests for Porphyria

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Genetic tests related to Porphyria:

# Genetic test Affiliating Genes
1 Porphyria 29
Sources

Anatomical Context for Porphyria

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MalaCards organs/tissues related to Porphyria:

41
Liver, Skin, Bone, Bone Marrow, Testes, Kidney, Heart
Sources

Publications for Porphyria

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Articles related to Porphyria:

(show top 50) (show all 2887)
# Title Authors Year
1
An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria. ( 28990424 )
2018
2
Acute Primary Adrenal Insufficiency after Hip Replacement in a Patient with Acute Intermittent Porphyria. ( 29515921 )
2018
3
Brain perfusion defects by SPET/CT and neurostat semi-quantitative analysis in two patients with congenital erythropoietic porphyria. ( 29705816 )
2018
4
Porphyria and kidney diseases. ( 29644058 )
2018
5
Medical and financial burden of acute intermittent porphyria. ( 29675607 )
2018
6
Patient Perspective on Acute Intermittent Porphyria with Frequent Attacks: A Disease with Intermittent and Chronic Manifestations. ( 29915990 )
2018
7
Total Corneal Melt in Patient with Porphyria Cutanea Tarda in Presence of another Risk Factor. ( 29370566 )
2018
8
Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm. ( 29416446 )
2018
9
The devil's in the dosing: severe drug-induced liver injury in a hydroxychloroquine-naive patient with subacute cutaneous lupus erythematosus and porphyria cutanea tarda. ( 29631513 )
2018
10
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. ( 29594648 )
2018
11
Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil). ( 29641722 )
2018
12
From a dominant to an oligogenic model of inheritance with environmental modifiers in Acute Intermittent Porphyria. ( 29360981 )
2018
13
Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo. ( 29928199 )
2018
14
Pseudo porphyria or porphyria cutanea tarda? ( 29791431 )
2018
15
Acute intermittent porphyria: general aspects with focus on pain. ( 29383964 )
2018
16
Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4-aminoquinoline antimalarial: A Meta-analysis. ( 29750336 )
2018
17
Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria. ( 29317194 )
2018
18
Porphyria: often discussed but too often missed. ( 29540448 )
2018
19
Porphyria cutanea tarda presenting as milia and blisters. ( 29789288 )
2018
20
Psychiatric Aspects of Acute Porphyria: a Comprehensive Review. ( 29392446 )
2018
21
Diagnosing diabetes mellitus in patients with porphyria cutanea tarda. ( 29516487 )
2018
22
A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy. ( 29915773 )
2018
23
Whole Exome Sequencing Identified a Novel Heterozygous Mutation in <i>HMBS</i> Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia. ( 29731767 )
2018
24
SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry. ( 29774528 )
2018
25
Acute Intermittent Porphyria in the North of China: The Acute Attack Effect on Quality of Life and Psychological Condition. ( 29862261 )
2018
26
Acute Intermittent Porphyria: A Rare Cause of Acute Disseminated Encephalomyelitis. ( 30237948 )
2018
27
Rapid spectrophotometric quantification of urinary porphyrins and porphobilinogen as screening tool for attacks of acute porphyria. ( 29855177 )
2018
28
A new UROD mutation in childhood porphyria cutanea tarda after allogeneic stem cell transplantation for β-thalassemia major. ( 30094935 )
2018
29
Posterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report. ( 30483456 )
2018
30
Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome: Two case reports and a literature review. ( 30200061 )
2018
31
Direct Immunofluorescence of Mechanobullous Epidermolysis Bullosa Acquisita, Porphyria Cutanea Tarda and Pseudoporphyria. ( 30176039 )
2018
32
Non-familial porphyria cutanea tarda: a case report of a rare disease. ( 30229639 )
2018
33
The first Japanese case of familial porphyria cutanea tarda diagnosed by a UROD mutation. ( 30522880 )
2018
34
Improvement of porphyria cutanea tarda following treatment of hepatitis C virus by direct-acting antivirals: A case report. ( 30506825 )
2018
35
Acute Intermittent Porphyria Presented with Acute Intestinal Pseudo-obstruction. ( 30148113 )
2018
36
Porphyria Cutanea Tarda Improvement With Elbasvir/Grazoprevir in End-Stage Renal Disease. ( 30099101 )
2018
37
Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP). ( 30201327 )
2018
38
A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report. ( 30212967 )
2018
39
Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria. ( 30232228 )
2018
40
Scleritis in congenital erythropoietic porphyria - infective or inflammatory? ( 30249837 )
2018
41
Loss of hepatocyte β-catenin protects mice from experimental porphyria-associated liver injury. ( 30287339 )
2018
42
Systemic messenger RNA as an etiological treatment for acute intermittent porphyria. ( 30297912 )
2018
43
Porphyria Attack Manifesting as Delayed Emergence and Precipitated by Prolonged Cardiopulmonary Bypass: A Case Report of 2 Novel Observations. ( 30312175 )
2018
44
Multinodular fatty change in the liver in three patients with chronic hepatic porphyria: Contribution of sonography to the diagnosis. ( 30378127 )
2018
45
Anaesthetic concerns in the patients with congenital erythropoietic porphyria for ocular surgery. ( 30388602 )
2018
46
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations. ( 30454868 )
2018
47
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations. ( 30514647 )
2018
48
Use HFR-supra for porphyria cutanea tarda treatment in hemodialysis patient. ( 30528547 )
2018
49
Effects of volatile anaesthetics on heme metabolism in a murine genetic model of Acute Intermittent Porphyria. A comparative study with other porphyrinogenic drugs. ( 29476795 )
2018
50
Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver. ( 29498764 )
2018
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Variations for Porphyria

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Expression for Porphyria

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Search GEO for disease gene expression data for Porphyria.
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Pathways for Porphyria

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Pathways related to Porphyria according to KEGG:

37
# Name Kegg Source Accession
1 Porphyrin and chlorophyll metabolism hsa00860

Pathways related to Porphyria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.33 ALAD ALAS1 ALAS2 CPOX CYP1A2 DPAGT1
2
Porphyrin and chlorophyll metabolism 37
Show member pathways
 11.63 ALAD ALAS1 ALAS2 CPOX FECH HMBS
Sources

GO Terms for Porphyria

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.63 ALAS1 ALAS2 CPOX FECH PPOX UROS
2 basal part of cell GO:0045178 8.96 HFE TF
3 HFE-transferrin receptor complex GO:1990712 8.62 HFE TF

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.83 ALAD CYP1A2 FECH PPOX
2 heme biosynthetic process GO:0006783 9.81 ALAD ALAS1 ALAS2 CPOX FECH HMBS
3 tetrapyrrole biosynthetic process GO:0033014 9.65 ALAD ALAS1 ALAS2 HMBS UROS
4 cellular iron ion homeostasis GO:0006879 9.63 ALAS2 HFE TF
5 erythrocyte differentiation GO:0030218 9.6 ALAS2 GATA1
6 biosynthetic process GO:0009058 9.59 ALAS1 ALAS2
7 iron ion homeostasis GO:0055072 9.58 HFE TF
8 transferrin transport GO:0033572 9.58 HFE TF
9 positive regulation of receptor-mediated endocytosis GO:0048260 9.57 HFE TF
10 response to lead ion GO:0010288 9.56 ALAD FECH
11 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 ALAD ALAS1 ALAS2 CPOX HMBS PPOX
12 response to metal ion GO:0010038 9.55 ALAD FECH
13 response to iron ion GO:0010039 9.54 ALAD HFE
14 porphyrin-containing compound metabolic process GO:0006778 9.54 ALAS1 ALAS2 CYP1A2
15 response to arsenic-containing substance GO:0046685 9.51 ALAD FECH
16 response to platinum ion GO:0070541 9.5 ALAD FECH UROS
17 cellular response to iron ion GO:0071281 9.49 HFE TF
18 response to methylmercury GO:0051597 9.48 ALAD FECH
19 protoporphyrinogen IX metabolic process GO:0046501 9.43 FECH PPOX
20 regulation of iron ion import GO:1900390 9.4 HFE TF
21 porphyrin-containing compound biosynthetic process GO:0006779 9.17 ALAD CPOX FECH HMBS PPOX UROD

Molecular functions related to Porphyria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ferrous iron binding GO:0008198 9.26 FECH TF
2 lyase activity GO:0016829 9.26 ALAD FECH UROD UROS
3 transferrin receptor binding GO:1990459 9.16 HFE TF
4 5-aminolevulinate synthase activity GO:0003870 8.62 ALAS1 ALAS2
Sources

Sources for Porphyria

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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33 ICD10
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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