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MCID: PRP029
MIFTS: 62

Porphyria

Categories: Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin 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 74 52 25 58 36 29 54 42 15
Hematoporphyria 12 25
Disorder of Porphyrin and Heme Metabolism 58
Disorder of Porphyrin and Hem Metabolism 12
Disorders of Porphyrin Metabolism 71
Disorder of Porphyrin Metabolism 12
Porphyrin Disorder 25
Porphyrinopathy 12
Porphyrias 43

Characteristics:

Orphanet epidemiological data:

58
porphyria
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Nephrological diseases Skin diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism


Sources

Summaries for Porphyria

About this section
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). Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda. Other types of porphyria, called acute porphyrias, primarily affect the nervous system. These disorders are described as "acute" because their signs and symptoms appear quickly and usually last a short time. Episodes of acute porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. During an episode, a person may also experience muscle weakness, seizures, fever, and mental changes such as anxiety and hallucinations. These signs and symptoms can be life-threatening, especially if the muscles that control breathing become paralyzed. Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, can have both acute and cutaneous symptoms. The porphyrias can also be split into erythropoietic and hepatic types, depending on where damaging compounds called porphyrins and porphyrin precursors first build up in the body. In erythropoietic porphyrias, these compounds originate in the bone marrow. Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria. Health problems associated with erythropoietic porphyrias include a low number of red blood cells (anemia) and enlargement of the spleen (splenomegaly). The other types of porphyrias are considered hepatic porphyrias. In these disorders, porphyrins and porphyrin precursors originate primarily in the liver, leading to abnormal liver function and an increased risk of developing liver cancer. Environmental factors can strongly influence the occurrence and severity of signs and symptoms of porphyria. Alcohol, smoking, certain drugs, hormones, other illnesses, stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of some forms of the disorder. Additionally, exposure to sunlight worsens the skin damage in people with cutaneous porphyrias.

MalaCards based summary : Porphyria, also known as hematoporphyria, is related to porphyria cutanea tarda, type i and porphyria, congenital erythropoietic, and has symptoms including pruritus, nausea and vomiting 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 Lidocaine and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and bone, and related phenotypes are abnormal urinary color and abnormal circulating porphyrin concentration

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.

NIH Rare Diseases : 52 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.

MedlinePlus : 42 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

KEGG : 36 Porphyria is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. The intermediates of this pathway (porphyrinogens, porphyrins and their precursors) are produced in excess and accumulate in tissues, resulting in neurological and/or photocutaneous symptoms, and hematological disturbances. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Erythropoietic porphyrias include erythropoietic protoporphyria (EPP), congenital erythropoietic porphyria (CEP), and the very rare hepatoerythropoietic porphyria (HEP). Hepatic porphyrias include ALA-dehydratase deficiency porphyria (ADP), acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), hereditary coproporphyria (HCP), and variegate porphyria (VP). Recently, a new type of erythroid porphyria, X-linked dominant protoporphyria (XLDPP) has been reported.

Wikipedia : 74 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 614)
# Related Disease Score Top Affiliating Genes
1 porphyria cutanea tarda, type i 34.9 UROD HFE
2 porphyria, congenital erythropoietic 34.4 UROS UROD HMBS GATA1 FECH CPOX
3 familial porphyria cutanea tarda 34.4 UROD HFE
4 variegate porphyria 34.0 UROS UROD PPOX HMBS HFE FECH
5 porphyria, acute intermittent 34.0 UROS UROD PPOX HMOX1 HMBS FECH
6 coproporphyria, hereditary 33.5 UROS UROD PPOX HMBS FECH CPOX
7 cutaneous porphyria 33.5 UROS UROD PPOX HMBS HFE GATA1
8 porphyria cutanea tarda 32.9 UROS UROD TFRC TF SLC40A1 PPOX
9 acute porphyria 32.5 UROS UROD TDO2 PPOX HMOX1 HMBS
10 protoporphyria, erythropoietic, 1 32.1 UROS UROD TFRC PPOX HMOX1 HMBS
11 hypertrichosis 31.4 UROS UROD PPOX HFE
12 x-linked protoporphyria 31.0 FECH ALAS2
13 hemosiderosis 30.7 UROD TFRC TF SLC40A1 HFE HAMP
14 hemolytic anemia 30.7 UROS TFRC TF HMOX1 CPOX
15 thrombocytopenia with beta-thalassemia, x-linked 30.6 UROS GATA1
16 inherited metabolic disorder 30.6 HFE HAMP FECH
17 cicatricial ectropion 30.6 UROS UROD
18 scleromalacia perforans 30.4 UROS CPOX
19 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 30.3 TFRC TF HFE HAMP GATA1 ALAS2
20 siderosis 30.3 UROD TFRC TF SLC40A1 HMOX1 HFE
21 hemochromatosis, type 1 30.2 UROD TFRC TF SLC40A1 HMOX1 HFE
22 iron metabolism disease 30.2 TFRC TF SLC40A1 HFE HAMP
23 thalassemia 30.1 TFRC TF SLC40A1 HFE HAMP GATA1
24 hypochromic microcytic anemia 30.1 TFRC TF HAMP ALAS2
25 beta-thalassemia 30.0 TFRC TF HFE HAMP GATA1
26 deficiency anemia 29.8 TFRC TF SLC40A1 HMOX1 HFE HAMP
27 hemochromatosis, type 3 29.7 TFRC SLC40A1 HFE HAMP
28 iron deficiency anemia 29.7 TFRC TF SLC40A1 HFE HAMP
29 sideroblastic anemia 29.6 UROD TFRC SLC40A1 HFE HAMP FECH
30 microcytic anemia 29.5 TFRC TF SLC40A1 HFE HAMP ALAS2
31 friedreich ataxia 29.5 TFRC SLC40A1 HFE HAMP FECH
32 anemia, sideroblastic, 1 29.0 UROS TFRC SLC40A1 HAMP GATA1 FECH
33 porphyria, acute hepatic 12.9
34 chester porphyria 12.7
35 aminolevulinic acid dehydratase deficiency porphyria 12.5
36 chronic hepatic porphyria 12.4
37 aminolevulinate dehydratase deficiency porphyria 12.3
38 protoporphyria, erythropoietic, x-linked 11.8
39 erythropoietic uroporphyria associated with myeloid malignancy 11.7
40 harderoporphyria 11.5
41 dyserythropoietic anemia and thrombocytopenia 11.4
42 protoporphyria, erythropoietic, 2 11.3
43 maleylacetoacetate isomerase deficiency 11.1
44 rare hereditary hemochromatosis 10.7
45 hepatitis c 10.7
46 hepatitis c virus 10.6
47 neuropathy 10.6
48 hepatocellular carcinoma 10.5
49 autosomal recessive disease 10.5
50 polyneuropathy 10.5

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
Sources

Symptoms & Phenotypes for Porphyria

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Human phenotypes related to Porphyria:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal urinary color 58 31 hallmark (90%) Very frequent (99-80%) HP:0012086
2 abnormal circulating porphyrin concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0010472
3 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
4 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
5 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
6 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
7 abnormal blistering of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008066
8 abnormality of skin pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0001000
9 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
10 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
11 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
12 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
13 anorexia 58 31 frequent (33%) Frequent (79-30%) HP:0002039
14 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
15 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
16 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
17 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
18 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
19 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
20 cerebral palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100021
21 dupuytren contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0005679
22 seizure 31 occasional (7.5%) HP:0001250
23 behavioral abnormality 58 Occasional (29-5%)
24 seizures 58 Occasional (29-5%)

UMLS symptoms related to Porphyria:


pruritus, nausea and vomiting, abdominal pain, constipation, 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 Decreased viability GR00240-S-1 9.7 GATA1 TFRC
2 Decreased viability GR00249-S 9.7 ALAS1 ALAS2 DPAGT1 GATA1 HMBS PPOX
3 Decreased viability GR00381-A-1 9.7 HMBS PPOX UROD UROS
4 Decreased viability GR00386-A-1 9.7 ALAD FECH HMBS PPOX TF
5 Decreased viability GR00402-S-2 9.7 ALAD CLPX CYP1A2 HAMP TF TFRC

MGI Mouse Phenotypes related to Porphyria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.17 ALAD ALAS1 CLPX CPOX FECH GATA1
2 embryo MP:0005380 10.11 ALAS1 ALAS2 CLPX CPOX DPAGT1 FECH
3 homeostasis/metabolism MP:0005376 10.06 ALAD ALAS2 CPOX CYP1A2 FECH GATA1
4 hematopoietic system MP:0005397 10 ALAS2 CPOX FECH GATA1 HFE HMBS
5 liver/biliary system MP:0005370 9.65 CYP1A2 FECH GATA1 HFE HMBS HMOX1
6 mortality/aging MP:0010768 9.58 ALAD ALAS1 ALAS2 CLPX CPOX CYP1A2
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 110)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
4
Azathioprine Approved Phase 4 446-86-6 2265
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
7 Hormone Antagonists Phase 4
8 Hormones Phase 4
9 Antimetabolites Phase 4
10 Pharmaceutical Solutions Phase 4
11 Anesthetics Phase 4
12 glucocorticoids Phase 4
13 Anti-Inflammatory Agents Phase 4
14 Immunologic Factors Phase 4
15 Antineoplastic Agents, Hormonal Phase 4
16 Anthelmintics Phase 4
17 Amebicides Phase 4
18 Chloroquine diphosphate Phase 4 50-63-5
19 Immunosuppressive Agents Phase 4
20 Analgesics, Non-Narcotic Phase 4
21 Analgesics Phase 4
22 Anti-Inflammatory Agents, Non-Steroidal Phase 4
23 Hypnotics and Sedatives Phase 4
24 Anesthetics, General Phase 4
25 Anesthetics, Intravenous Phase 4
26
Deferasirox Approved, Investigational Phase 3 201530-41-8 5493381
27
Colestipol Approved Phase 2, Phase 3 26658-42-4
28
Hydroxychloroquine Approved Phase 3 118-42-3 3652
29
Azithromycin Approved Phase 3 83905-01-5 447043 55185
30
Atorvastatin Approved Phase 3 134523-00-5 60823
31
Cysteine Approved, Nutraceutical Phase 3 52-90-4 5862
32 Sodium Channel Blockers Phase 3
33 Anti-Arrhythmia Agents Phase 3
34 Diuretics, Potassium Sparing Phase 3
35 Anesthetics, Local Phase 3
36 Chelating Agents Phase 3
37 Iron Chelating Agents Phase 3
38 Anti-Infective Agents Phase 3
39 Antiparasitic Agents Phase 3
40 Antiprotozoal Agents Phase 3
41 Antirheumatic Agents Phase 3
42 Antimalarials Phase 3
43 Anti-Bacterial Agents Phase 3
44 Hypolipidemic Agents Phase 3
45 Lipid Regulating Agents Phase 3
46 carnitine Phase 3
47 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
48 Anticholesteremic Agents Phase 3
49 Hypoglycemic Agents Phase 3
50
Ledipasvir Approved Phase 2 1256388-51-8 67505836

Interventional clinical trials:

(show top 50) (show all 63)
# Name Status NCT ID Phase Drugs
1 Possible Role of Chloroquine in Conjunction to Prednisone to Induce a Complete Remission in the Treatment of Autoimmune Hepatitis: a Randomized Trial Completed NCT02463331 Phase 4 Chloroquine diphosphate;prednisone;azathioprine
2 DOUBLE-BLIND RANDOMIZED CLINICAL TRIAL WITH CHLOROQUINE VERSUS PLACEBO FOR MAINTENANCE OF REMISSION OF AUTOIMMUNE HEPATITIS Completed NCT01980745 Phase 4 Chloroquine diphosphate 250mg;Placebo
3 EFFICACY OF KETAMINE-PROPOFOL COMBINATION FOR SHORT SURGICAL PROCEDURES Completed NCT01651988 Phase 4 Ketamina-Propofol Combination
4 Effect of Continuous Intravenous Lidocaine on Early Rehabilitation in Bariatric Surgery. A Randomized Double Blind Controlled Study Unknown status NCT03211455 Phase 3 Lidocaine;isotonic saline
5 Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda Completed NCT00599326 Phase 3 Deferasirox
6 Sorbent Therapy of the Cutaneous Porphyrias Completed NCT01422915 Phase 2, Phase 3 Colestipol
7 A Multi-centre, Double-blind, Randomized, Placebo-controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Porphozym (Recombinant Human Porphobilinogen Deaminase) in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2, Phase 3 recombinant human porphobilinogen deaminase (Porphozym)
8 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
9 Azithromycin Added to Hydrochloroquine in Patients Admitted to Intensive Care Due to Coronavirus Disease 2019 (COVID-19)- Randomised Controlled Trial Recruiting NCT04339816 Phase 3 Azithromycin;Hydroxychloroquine;Placebo
10 ENVISION: A Phase 3 Randomized, Double-blind, Placebo-Controlled Multicenter Study With an Open-label Extension to Evaluate the Efficacy and Safety of Givosiran in Patients With Acute Hepatic Porphyrias Active, not recruiting NCT03338816 Phase 3 Givosiran;Placebo
11 Estudio clínico Fase III Para Evaluar la Eficacia terapéutica en Pacientes Mexicanos Con Dislipidemia Mediante el Uso vía Oral de L-Carnitina + Atorvastatina Comparado Con Atorvastatina Active, not recruiting NCT03696940 Phase 3 L-Carnitine 500Mg Oral Tablet + Atorvastatin 10 mg;Atorvastatin 10mg
12 The Synergistic Effect of Hypoglycemic Index Diet on Refractory Schizophrenia Enrolling by invitation NCT04302636 Phase 3
13 A Phase II, Open Label Clinical Trial Exploring the Safety and the Efficacy of Oral Deferasirox in Patients Newly Diagnosed With Porphyria Cutanea Tarda (PCT) and Non-transfusion Iron Overload Unknown status NCT01284946 Phase 2 Exjade
14 Phase II Study of Heme Arginate in Patients Planned for Cardiac Surgery Unknown status NCT02142699 Phase 2 Heme arginate
15 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
16 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
17 A Pilot Study of Hemin Therapy for Gastroparesis Completed NCT01206582 Phase 2
18 A Safety and Efficacy Study to Evaluate Intravenous Heme Arginate Infusion in Patients With an Acute Coronary Syndrome Without ST-elevation (NSTEMI) Completed NCT00483587 Phase 1, Phase 2 Heme arginate
19 Safety and Efficacy of Panhematin™ for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
20 A Prospective Comparison of Low Dose Hydroxychloroquine and Phlebotomy in the Treatment of Porphyria Cutanea Tarda. IRB 02-435 Recruiting NCT01573754 Phase 2 Hydroxychloroquine
21 A Multicenter, Open-label Extension Study to Evaluate the Long-term Safety and Clinical Activity of Subcutaneously Administered ALN-AS1 in Patients With Acute Intermittent Porphyria Who Have Completed a Previous Clinical Study With ALN-AS1 Active, not recruiting NCT02949830 Phase 1, Phase 2 givosiran (ALN-AS1)
22 A Double-blind, Randomized, Placebo-controlled, Parallel Group Trial on the Efficacy and Safety of PanhematinTM in the Treatment of Acute Attacks of Porphyria Active, not recruiting NCT02180412 Phase 2
23 Newer Direct-Acting Anti-Viral Agents as Sole Therapy of Porphyria Cutanea Tarda in Subjects With Chronic Hepatitis C Active, not recruiting NCT03118674 Phase 2 Harvoni
24 A Phase 2, Open-Label, Multiple-Dose Study Investigating the Efficacy and Safety of Panhematin in Patients With Low or Intermediate-1 Risk Myelodysplastic Syndrome Terminated NCT00467610 Phase 2 Panhematin
25 A Drug-Drug Interaction Study to Investigate the Effect of Givosiran on the Pharmacokinetics (PK) of Midazolam, Caffeine, Losartan, Omeprazole, and Dextromethorphan in Patients With Acute Intermittent Porphyria (AIP) Who Are Asymptomatic High Excreters (ASHE) Completed NCT03505853 Phase 1 Givosiran;5-probe cocktail
26 A Phase 1, Single-ascending Dose, Multiple-ascending Dose, and Multi-dose Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of Subcutaneously Administered ALN AS1 in Patients With Acute Intermittent Porphyria (AIP) Completed NCT02452372 Phase 1 givosiran (ALN-AS1);Sterile Normal Saline (0.9% NaCl)
27 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
28 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
29 Phase I, Multicentre, Open Label, Single Dose, Dose-ranging Clinical Trial to Investigate the Safety and Tolerability of a Gene Therapy rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
30 A Single Center, Single Dose, Open-Label, Two-Period Replicate Pilot Study to Investigate Intra-subject Variability in the Bioavailability of a Formulation Containing Chlorpromazine Hydrochloride (25 mg Sugar Coated Tablets) in at Least 16 Healthy Males and Females Under Fasting Conditions Completed NCT02943213 Phase 1 Chlorpromazine Hydrochloride
31 Effect of Hemin on Heme-Oxygenase-1 Activity in Healthy Subjects Completed NCT00882804 Phase 1 Hemin infusion;placebo infusion
32 Efficacy of Based MRI Contrast Media Against Covid-19 Not yet recruiting NCT04371822 Phase 1 SnPP Protoporphyrin plus Sunlight exposure;SnPP Protoporphyrin plus Sunlight exposure;SnPP Protoporphyrin plus Sunlight exposure;Sulfonatoporphyrin(TPPS) plus Sunlight exposure.
33 PentoxIfylline and Tocopherol for the Treatment of Post-radiotherapy Fibrosis in Head and Neck Cancer Patients: a Feasibility Study Not yet recruiting NCT03723291 Phase 1
34 Studies in Porphyria I: Characterization of Enzyme Defects Unknown status NCT00004331
35 Pattern of Skin Manifestations in Chronic Hepatitis c Virus Patients Before and After Direct Acting Anti Viral Drugs: Prospective Controlled Clinical Trial Unknown status NCT03170076
36 The Effects of Visible Light on the Skin After Administration of Oral Polypodium Leucotomos Unknown status NCT02904798 Polypodium Leucotomos
37 Randomized Controlled Study of Off-Label Use of Ribavirin in Management of Mucocutaneous Extrahepatic Manifestations of HCV Infection Unknown status NCT02261662 Ribavirin;Betamethasone
38 Is Outpatient PDD Guided Laser Mediated Destruction of Bladder Tumors (LMD-BT) as Good as Conventional Inpatient PDD Guided Transurethral Tumor Resection in Patients With Low Grade Non-invasive (Ta) Bladder Tumors? Unknown status NCT02886026
39 Chronic Hepatitis C in Chronic Hemodialysis Recipients - An Observational Study Unknown status NCT03461250
40 “Factors Associated With Porphyria Cutanea Tarda in Patients Infected With Hepatitis C Virus” Completed NCT00213772
41 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 luteinizing hormone-releasing factor
42 Clinical Diagnosis of Acute Porphyria Completed NCT01568554
43 Study of Nutritional Factors in Porphyria Completed NCT00004788
44 Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria Completed NCT03906214
45 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
46 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Completed NCT01688895
47 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
48 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
49 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 cysteine hydrochloride
50 Effect of Oral Iron Therapy on Erythrocyte Protoporphyrin Levels in the Erythropoietic Protoporphyrias Completed NCT02979249 Oral Iron

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

About this section

MalaCards organs/tissues related to Porphyria:

40
Liver, Skin, Bone, Bone Marrow, Testes, Kidney, Heart
Sources

Publications for Porphyria

About this section

Articles related to Porphyria:

(show top 50) (show all 7170)
# Title Authors PMID Year
1
Givosiran - Running RNA Interference to Fight Porphyria Attacks. 42 61
32521139 2020
2
Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model. 61 42
31990410 2020
3
A case of porphyria cutanea tarda in the setting of hepatitis C infection and tobacco usage. 42 61
32045169 2019
4
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. 54 61
20479301 2010
5
Molecular epidemiology of erythropoietic protoporphyria in the U.K. 54 61
20105171 2010
6
Associations among behavior-related susceptibility factors in porphyria cutanea tarda. 61 54
19948245 2010
7
Allosteric inhibition of human porphobilinogen synthase. 54 61
19812033 2009
8
Understanding the mechanism of drug resistance due to a codon deletion in protoporphyrinogen oxidase through computational modeling. 61 54
19284797 2009
9
Co-synthesis of Human delta-Aminolevulinate Dehydratase (ALAD) Mutants with the Wild-type Enzyme in Cell-free System-Critical Importance of Conformation on Enzyme Activity-. 61 54
19015748 2008
10
Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria. 54 61
18406650 2008
11
[Successful gene therapy of mice with congenital erythropoietic porphyria]. 54 61
18601879 2008
12
Essential role of the AH receptor in the dysfunction of heme metabolism induced by 2,3,7,8-tetrachlorodibenzo-p-dioxin. 61 54
18163543 2008
13
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. 54 61
17597821 2007
14
Heme regulates exocrine peptidase precursor genes in zebrafish. 61 54
17895525 2007
15
Paraneoplastic porphyria cutanea tarda associated with cholangiocarcinoma: case report. 61 54
17891697 2007
16
A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. 61 54
17360334 2007
17
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. 54 61
17148589 2007
18
ALAD porphyria is a conformational disease. 61 54
17236137 2007
19
Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18. 54 61
16882191 2006
20
Swiss patients with variegate porphyria have unique mutations. 61 54
16947091 2006
21
Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. 54 61
16398658 2006
22
Dual porphyria with mutations in both the UROD and HMBS genes. 54 61
16390615 2006
23
Porphyria syndrome associated with diabetic nephrosclerosis and erythropoietin. 61 54
17435269 2006
24
Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria. 61 54
15660919 2005
25
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. 61 54
15491440 2004
26
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 61 54
14669009 2004
27
The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. 61 54
15303011 2004
28
[Treatment of acute porphyrias. The importance of follow-up of patients and carriers]. 54 61
12809070 2003
29
Molecular characterization of porphyrias in Italy: a diagnostic flow-chart. 61 54
12699245 2002
30
Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic dialysis. 61 54
12508966 2002
31
Non-ahr gene susceptibility Loci for porphyria and liver injury induced by the interaction of 'dioxin' with iron overload in mice. 61 54
11854449 2002
32
Late-onset porphyrias: what are they? 61 54
11929054 2002
33
Highly heterogeneous nature of delta-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria. 61 54
11342419 2001
34
A mouse model of familial porphyria cutanea tarda. 54 61
11134514 2001
35
Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria. 61 54
11071662 2000
36
Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria. 54 61
10980536 2000
37
Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria. 61 54
10706561 2000
38
Molecular aspects of the inherited porphyrias. 54 61
10692079 2000
39
The cutaneous porphyrias. 54 61
10604794 1999
40
Formation of N-alkylprotoporphyrin IX after interaction of porphyrinogenic xenobiotics with rat liver microsomes. 61 54
10964007 1999
41
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. 54 61
10401000 1999
42
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. 54 61
10397714 1999
43
Investigations on the formation of urinary coproporphyrin isomers I-IV in 5-aminolevulinic acid dehydratase deficiency porphyria, acute lead intoxication and after oral 5-aminolevulinic acid loading. 61 54
10211628 1999
44
Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT. 61 54
10477430 1999
45
Chromosomal linkage analysis of porphyria in mice induced by hexachlorobenzene-iron synergism: a model of sporadic porphyria cutanea tarda. 54 61
9918132 1998
46
5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up. 54 61
9732973 1998
47
Crystal structure of human uroporphyrinogen decarboxylase. 54 61
9564029 1998
48
[ALAD deficiency porphyria (ADP)]. 54 61
9645025 1998
49
Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda. 61 54
9427577 1998
50
[Effect of the thioctamide in relation to the hexachlorobenzene action]. 54 61
9777036 1998
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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:

36
# 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 65
Show member pathways
 13.79 UROS UROD TDO2 PPOX HMOX1 HMBS
2
Insulin receptor recycling 65
Show member pathways
 12.18 TFRC TF SLC40A1 HMOX1
3
Porphyrin and chlorophyll metabolism 36
Show member pathways
 11.68 UROS UROD PPOX HMOX1 HMBS FECH
4
HIF-1 signaling pathway 36
11.67 TFRC TF HMOX1
5
HIF-1-alpha transcription factor network 1
11.37 TFRC TF HMOX1 FECH
6
Mineral absorption 36
11.31 TF SLC40A1 HMOX1
7
Ferroptosis 36
11.07 TFRC TF SLC40A1 HMOX1
8
Iron metabolism in placenta 1
10.34 TFRC TF SLC40A1 HAMP
9
Hfe effect on hepcidin production 1
10.25 HFE HAMP
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 9.87 UROS PPOX FECH CPOX CLPX ALAS2
2 mitochondrial matrix GO:0005759 9.71 FECH CLPX ALAS2 ALAS1
3 mitochondrial inner membrane GO:0005743 9.55 PPOX FECH CPOX CLPX ALAS2
4 recycling endosome GO:0055037 9.54 TFRC TF HFE
5 cell GO:0005623 9.5 TFRC TF SLC40A1 HMOX1 HFE HAMP
6 basal part of cell GO:0045178 9.26 TF HFE
7 HFE-transferrin receptor complex GO:1990712 8.8 TFRC TF HFE

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

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.95 PPOX FECH CYP1A2 ALAD
2 response to hypoxia GO:0001666 9.91 HMOX1 ALAS2 ALAS1 ALAD
3 cellular iron ion homeostasis GO:0006879 9.87 TFRC TF SLC40A1 HMOX1 HFE HAMP
4 response to ethanol GO:0045471 9.83 HAMP FECH ALAD
5 transferrin transport GO:0033572 9.77 TFRC TF HFE
6 iron ion homeostasis GO:0055072 9.76 TF SLC40A1 HMOX1 HFE
7 liver regeneration GO:0097421 9.74 HMOX1 HFE HAMP
8 iron ion transport GO:0006826 9.72 TFRC TF SLC40A1
9 erythrocyte development GO:0048821 9.71 GATA1 ALAS2 ALAS1
10 response to lead ion GO:0010288 9.7 FECH CPOX ALAD
11 porphyrin-containing compound biosynthetic process GO:0006779 9.7 UROS UROD PPOX HMBS FECH CPOX
12 response to arsenic-containing substance GO:0046685 9.69 FECH CPOX ALAD
13 multicellular organismal iron ion homeostasis GO:0060586 9.67 SLC40A1 HFE HAMP
14 response to iron ion GO:0010039 9.67 HFE HAMP CPOX ALAD
15 positive regulation of receptor-mediated endocytosis GO:0048260 9.66 TF HFE
16 positive regulation of bone resorption GO:0045780 9.66 TFRC TF
17 response to metal ion GO:0010038 9.65 FECH ALAD
18 response to methylmercury GO:0051597 9.65 FECH CPOX ALAD
19 tetrapyrrole biosynthetic process GO:0033014 9.65 UROS HMBS ALAS2 ALAS1 ALAD
20 response to inorganic substance GO:0010035 9.64 CPOX ALAD
21 cellular response to arsenic-containing substance GO:0071243 9.64 UROS HMOX1
22 iron ion transmembrane transport GO:0034755 9.63 TF SLC40A1
23 cellular response to iron ion GO:0071281 9.63 TF HFE
24 hemoglobin biosynthetic process GO:0042541 9.62 ALAS2 ALAS1
25 response to insecticide GO:0017085 9.62 FECH CPOX
26 heme metabolic process GO:0042168 9.61 UROD HMOX1
27 porphyrin-containing compound metabolic process GO:0006778 9.61 CYP1A2 ALAS2 ALAS1
28 response to iron ion starvation GO:1990641 9.59 HFE HAMP
29 protoporphyrinogen IX metabolic process GO:0046501 9.58 PPOX FECH
30 regulation of iron ion transport GO:0034756 9.58 TF HFE
31 response to platinum ion GO:0070541 9.58 UROS FECH ALAD
32 regulation of transcription from RNA polymerase II promoter in response to iron GO:0034395 9.56 SLC40A1 HMOX1
33 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 UROS UROD PPOX HMBS CPOX ALAS2
34 heme biosynthetic process GO:0006783 9.28 UROS UROD PPOX HMBS FECH CPOX

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.76 TFRC TDO2 SLC40A1 HMOX1 DPAGT1 CPOX
2 oxidoreductase activity GO:0016491 9.72 TDO2 PPOX HMOX1 CYP1A2 CPOX
3 transferrin receptor binding GO:1990459 9.26 TF HFE
4 lyase activity GO:0016829 9.02 UROS UROD FECH CYP1A2 ALAD
5 5-aminolevulinate synthase activity GO:0003870 8.96 ALAS2 ALAS1
Sources

Sources for Porphyria

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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