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MCID: PRP029
MIFTS: 60

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 20 43 58 36 29 54 42 15
Hematoporphyria 12 43
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 43
Porphyrinopathy 12
Porphyrias 44

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
MedlinePlus Genetics : 43 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 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 Deferasirox and Colestipol have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and bone marrow, 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.

GARD : 20 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 liver disorders in which substances called porphyrins build up in the body,... more...

Sources

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 600)
# Related Disease Score Top Affiliating Genes
1 porphyria cutanea tarda, type i 32.8 UROD HFE
2 porphyria, congenital erythropoietic 32.5 UROS UROD HMBS GATA1 FECH CPOX
3 familial porphyria cutanea tarda 32.5 UROD HFE
4 variegate porphyria 32.2 UROS UROD PPOX HMBS HFE FECH
5 coproporphyria, hereditary 32.0 UROS UROD PPOX HMBS FECH CPOX
6 porphyria, acute intermittent 31.8 UROS UROD PPOX HPX HMOX1 HMBS
7 acute porphyria 31.6 UROS UROD PPOX HMOX1 HMBS HFE
8 cutaneous porphyria 31.4 UROS UROD PPOX HMBS HFE HAMP
9 rare hereditary hemochromatosis 31.1 TFR2 SLC40A1 HFE HAMP
10 hemosiderosis 31.1 TFR2 SLC40A1 HFE HAMP
11 hypertrichosis 31.1 UROD PPOX HFE
12 porphyria cutanea tarda 31.0 UROS UROD TFRC TFR2 SLC40A1 PPOX
13 protoporphyria, erythropoietic, 1 30.9 UROS UROD TFRC PPOX HMOX1 HMBS
14 inherited metabolic disorder 30.4 TFR2 HFE HAMP FECH
15 x-linked protoporphyria 30.4 FECH ALAS2
16 hemolytic anemia 30.3 UROS TFRC HPX HMOX1 CPOX
17 siderosis 30.3 UROD TFRC SLC40A1 HMOX1 HFE HAMP
18 cicatricial ectropion 30.3 UROS UROD
19 hemochromatosis, type 1 30.2 UROD TFRC TFR2 SLC40A1 HMOX1 HFE
20 scleromalacia perforans 30.1 UROD CPOX
21 hypochromic microcytic anemia 30.0 TFRC HAMP ALAS2
22 iron metabolism disease 29.9 TFRC TFR2 SLC40A1 HFE HAMP
23 beta-thalassemia 29.8 TFRC TFR2 HFE HAMP GATA1
24 sickle cell disease 29.7 TFRC HMOX1 ALAS2
25 iron deficiency anemia 29.5 TFRC TFR2 SLC40A1 HFE HAMP
26 hemochromatosis, type 3 29.3 TFRC TFR2 SLC40A1 HFE HAMP
27 sideroblastic anemia 29.3 UROD TFR2 SLC40A1 HFE HAMP FECH
28 microcytic anemia 29.3 TFRC TFR2 SLC40A1 HFE HAMP FECH
29 deficiency anemia 28.8 UROS TFRC TFR2 SLC40A1 HPX HMOX1
30 anemia, sideroblastic, 1 28.5 UROS TFRC TFR2 SLC40A1 HAMP GATA1
31 porphyria, acute hepatic 11.6
32 chester porphyria 11.5
33 aminolevulinic acid dehydratase deficiency porphyria 11.3
34 aminolevulinate dehydratase deficiency porphyria 11.1
35 dyserythropoietic anemia and thrombocytopenia 11.1
36 chronic hepatic porphyria 11.1
37 autosomal erythropoietic protoporphyria 11.0
38 protoporphyria, erythropoietic, 2 11.0
39 harderoporphyria 11.0
40 erythropoietic uroporphyria associated with myeloid malignancy 10.9
41 protoporphyria, erythropoietic, x-linked 10.9
42 maleylacetoacetate isomerase deficiency 10.8
43 hepatitis c virus 10.5
44 neuropathy 10.5
45 hepatitis c 10.5
46 autosomal recessive disease 10.4
47 polyneuropathy 10.4
48 dowling-degos disease 1 10.4
49 systemic scleroderma 10.4
50 encephalopathy 10.4

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 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
4 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
5 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
6 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
7 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
8 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
9 anorexia 58 31 frequent (33%) Frequent (79-30%) HP:0002039
10 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
11 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
12 abnormality of skin pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0001000
13 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
14 abnormal blistering of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008066
15 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
16 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
17 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
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 seizures 58 Occasional (29-5%)
24 behavioral abnormality 58 Occasional (29-5%)

UMLS symptoms related to Porphyria:


nausea and vomiting, constipation, abdominal pain, pruritus, diarrhea, dyspepsia, icterus, exanthema, 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 10.02 GATA1 TFRC
2 Decreased viability GR00249-S 10.02 ALAS1 ALAS2 DPAGT1 GATA1 HMBS PPOX
3 Decreased viability GR00381-A-1 10.02 HMBS PPOX TFR2 UROD UROS
4 Decreased viability GR00386-A-1 10.02 ALAD FECH HMBS PPOX TFR2
5 Decreased viability GR00402-S-2 10.02 ALAD CYP1A2 HAMP TFRC
6 Reduced mammosphere formation GR00396-S 9.17 ALAD GATA1 HFE PPOX TFR2 TFRC

MGI Mouse Phenotypes related to Porphyria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 10.15 ALAS1 ALAS2 CPOX DPAGT1 FECH GATA1
2 growth/size/body region MP:0005378 10.13 ALAS1 CPOX FECH GATA1 HFE HMBS
3 homeostasis/metabolism MP:0005376 10.09 ALAD ALAS2 CPOX CYP1A2 FECH GATA1
4 hematopoietic system MP:0005397 10.07 ALAD ALAS2 CPOX FECH GATA1 HFE
5 liver/biliary system MP:0005370 9.73 CYP1A2 FECH GATA1 HFE HMBS HMOX1
6 mortality/aging MP:0010768 9.55 ALAD ALAS1 ALAS2 CPOX CYP1A2 DPAGT1
Sources

Drugs & Therapeutics for Porphyria

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

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 3 201530-41-8 5493381 214348
2
Colestipol Approved Phase 2, Phase 3 26658-42-4
3
Cysteine Approved, Nutraceutical Phase 3 52-90-4 5862
4 Iron Chelating Agents Phase 3
5 Chelating Agents Phase 3
6 Antimetabolites Phase 2, Phase 3
7 Hypolipidemic Agents Phase 2, Phase 3
8 Lipid Regulating Agents Phase 2, Phase 3
9
Ledipasvir Approved Phase 2 1256388-51-8 67505836
10
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
11
Iron Approved Phase 2 7439-89-6 23925 29936
12
Hydroxychloroquine Approved Phase 2 118-42-3 3652
13 Tin mesoporphyrin Phase 2
14 Antiviral Agents Phase 2
15 Ledipasvir, sofosbuvir drug combination Phase 2
16 Anti-Infective Agents Phase 2
17 Antiparasitic Agents Phase 2
18 Antiprotozoal Agents Phase 2
19 Antirheumatic Agents Phase 2
20 Antimalarials Phase 2
21
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
22
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
23
Caffeine Approved Phase 1 58-08-2 2519
24
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
25
Losartan Approved Phase 1 114798-26-4 3961
26
Chlorpromazine Approved, Investigational, Vet_approved Phase 1 50-53-3 2726
27
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
28 Liver Extracts Phase 1
29 Dopamine Agents Phase 1
30 Dopamine Antagonists Phase 1
31 Gastrointestinal Agents Phase 1
32 Psychotropic Drugs Phase 1
33 Neurotransmitter Agents Phase 1
34 Antipsychotic Agents Phase 1
35 Antiemetics Phase 1
36
Aminolevulinic acid Approved 106-60-5 137
37
Protoporphyrin IX Experimental 553-12-8
38 Hormones
39 Hormone Antagonists
40 Iron Supplement

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
2 Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda Completed NCT00599326 Phase 3 Deferasirox
3 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)
4 Sorbent Therapy of the Cutaneous Porphyrias Completed NCT01422915 Phase 2, Phase 3 Colestipol
5 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
6 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
7 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
8 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
9 Newer Direct-Acting Anti-Viral Agents as Sole Therapy of Porphyria Cutanea Tarda in Subjects With Chronic Hepatitis C Recruiting NCT03118674 Phase 2 Harvoni
10 Safety and Efficacy of Panhematinâ„¢ for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
11 A Prospective Comparison of Low Dose Hydroxychloroquine and Phlebotomy in the Treatment of Porphyria Cutanea Tarda. IRB 02-435 Active, not recruiting NCT01573754 Phase 2 Hydroxychloroquine
12 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
13 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)
14 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
15 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
16 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
17 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
18 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)
19 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
20 Studies in Porphyria I: Characterization of Enzyme Defects Unknown status NCT00004331
21 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
22 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 luteinizing hormone-releasing factor
23 Study of Nutritional Factors in Porphyria Completed NCT00004788
24 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 cysteine hydrochloride
25 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Completed NCT01688895
26 Effect of Oral Iron Therapy on Erythrocyte Protoporphyrin Levels in the Erythropoietic Protoporphyrias Completed NCT02979249 Oral Iron
27 "Factors Associated With Porphyria Cutanea Tarda in Patients Infected With Hepatitis C Virus" Completed NCT00213772
28 Clinical Diagnosis of Acute Porphyria Completed NCT01568554
29 Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria Completed NCT03906214
30 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
31 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
32 Longitudinal Study of the Porphyrias Recruiting NCT01561157
33 Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment Active, not recruiting NCT02935400 Hemin
34 A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks Active, not recruiting NCT02240784
35 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Active, not recruiting NCT01617642
36 7202 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC) Active, not recruiting NCT01880983
37 Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria (AHP) Available NCT04056481 Givosiran
38 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

Search NIH Clinical Center for Porphyria

Cochrane evidence based reviews: porphyrias

Sources

Genetic Tests for Porphyria

About this section

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
Skin, Liver, Bone Marrow, Kidney, Spleen, Brain, Thyroid
Sources

Publications for Porphyria

About this section

Articles related to Porphyria:

(show top 50) (show all 7268)
# Title Authors PMID Year
1
Led Astray. 42
32757528 2020
2
Use of Generalized Additive Model to Detect the Threshold of δ-Aminolevulinic Acid Dehydratase Activity Reduced by Lead Exposure. 42
32784669 2020
3
Opioid dependence with successful transition to suboxone (buprenorphine/naloxone) in a young woman with hereditary coproporphyria. 42
32683436 2020
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-. 54 61
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. 61 54
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. 54 61
18163543 2008
13
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. 61 54
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
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. 54 61
17148589 2007
17
A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. 61 54
17360334 2007
18
ALAD porphyria is a conformational disease. 54 61
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
Porphyria syndrome associated with diabetic nephrosclerosis and erythropoietin. 54 61
17435269 2006
22
Dual porphyria with mutations in both the UROD and HMBS genes. 61 54
16390615 2006
23
Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. 61 54
16398658 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. 54 61
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]. 61 54
12809070 2003
29
Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic dialysis. 54 61
12508966 2002
30
Molecular characterization of porphyrias in Italy: a diagnostic flow-chart. 54 61
12699245 2002
31
Non-ahr gene susceptibility Loci for porphyria and liver injury induced by the interaction of 'dioxin' with iron overload in mice. 54 61
11854449 2002
32
Late-onset porphyrias: what are they? 54 61
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. 61 54
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. 61 54
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. 61 54
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. 61 54
9732973 1998
47
Crystal structure of human uroporphyrinogen decarboxylase. 54 61
9564029 1998
48
[Effect of the thioctamide in relation to the hexachlorobenzene action]. 54 61
9777036 1998
49
[ALAD deficiency porphyria (ADP)]. 61 54
9645025 1998
50
Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda. 54 61
9427577 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
 13.72 UROS UROD TDO2 PPOX HMOX1 HMBS
2
Porphyrin and chlorophyll metabolism 36
Show member pathways
 11.85 UROS UROD PPOX HMOX1 HMBS FECH
3
Biosynthesis of cofactors 36
Show member pathways
 11.54 UROS UROD TDO2 PPOX HMBS FECH
4
HIF-1-alpha transcription factor network 1
11.39 TFRC HMOX1 FECH
5
Ferroptosis 36
11.11 TFRC SLC40A1 HMOX1
6
Iron metabolism in placenta 1
10.54 TFRC TFR2 SLC40A1 HAMP
7
Hfe effect on hepcidin production 1
10.21 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 HFE-transferrin receptor complex GO:1990712 8.8 TFRC TFR2 HFE

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.95 PPOX HMOX1 FECH CYP1A2 ALAD
2 response to hypoxia GO:0001666 9.88 HMOX1 ALAS2 ALAS1 ALAD
3 cellular iron ion homeostasis GO:0006879 9.86 TFRC TFR2 SLC40A1 HPX HMOX1 HFE
4 response to ethanol GO:0045471 9.81 HAMP FECH ALAD
5 iron ion homeostasis GO:0055072 9.77 TFR2 SLC40A1 HMOX1 HFE HAMP
6 acute-phase response GO:0006953 9.74 TFR2 HFE HAMP
7 transferrin transport GO:0033572 9.73 TFRC TFR2 HFE
8 tetrapyrrole biosynthetic process GO:0033014 9.72 UROS HMBS ALAS2 ALAS1 ALAD
9 response to iron ion GO:0010039 9.71 TFR2 HFE HAMP ALAD
10 porphyrin-containing compound biosynthetic process GO:0006779 9.7 UROS UROD PPOX HMBS FECH CPOX
11 liver regeneration GO:0097421 9.69 HMOX1 HFE HAMP
12 erythrocyte development GO:0048821 9.67 GATA1 ALAS2 ALAS1
13 porphyrin-containing compound metabolic process GO:0006778 9.65 CYP1A2 ALAS2 ALAS1
14 response to lead ion GO:0010288 9.64 FECH ALAD
15 iron ion transport GO:0006826 9.64 TFRC TFR2
16 response to metal ion GO:0010038 9.63 FECH ALAD
17 heme metabolic process GO:0042168 9.63 UROD HPX HMOX1
18 response to arsenic-containing substance GO:0046685 9.62 FECH ALAD
19 positive regulation of peptide hormone secretion GO:0090277 9.62 TFR2 HFE
20 cellular response to arsenic-containing substance GO:0071243 9.61 UROS HMOX1
21 cellular response to iron ion GO:0071281 9.61 TFR2 HFE
22 response to platinum ion GO:0070541 9.61 UROS FECH ALAD
23 multicellular organismal iron ion homeostasis GO:0060586 9.6 SLC40A1 HAMP
24 response to methylmercury GO:0051597 9.59 FECH ALAD
25 hemoglobin biosynthetic process GO:0042541 9.58 ALAS2 ALAS1
26 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 UROS UROD PPOX HMBS CPOX ALAS2
27 response to iron ion starvation GO:1990641 9.54 HFE HAMP
28 protoporphyrinogen IX metabolic process GO:0046501 9.52 PPOX FECH
29 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 oxidoreductase activity GO:0016491 9.72 TDO2 PPOX HMOX1 CYP1A2 CPOX
2 heme binding GO:0020037 9.54 TDO2 HMOX1 CYP1A2
3 co-receptor binding GO:0039706 9.26 TFR2 HFE
4 transferrin receptor activity GO:0004998 9.16 TFRC TFR2
5 lyase activity GO:0016829 9.02 UROS UROD FECH CYP1A2 ALAD
6 5-aminolevulinate synthase activity GO:0003870 8.96 ALAS2 ALAS1
Sources

Sources for Porphyria

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
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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