MCID: PRP029
MIFTS: 60

Porphyria

Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Porphyria

MalaCards integrated aliases for Porphyria:

Name: Porphyria 11 19 42 58 75 28 53 41 14
Hematoporphyria 11 42
Porphyrias 43 33
Disorder of Porphyrin and Heme Metabolism 58
Disorder of Porphyrin and Hem Metabolism 11
Disorders of Porphyrin Metabolism 71
Disorder of Porphyrin Metabolism 11
Porphyrin Disorder 42
Porphyrinopathy 11

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58

Prevelance:

1-9/1000000 (Japan, Denmark) 58

Age Of Onset:

All ages 58

Classifications:

Orphanet: 58  
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism


Summaries for Porphyria

MedlinePlus Genetics: 42 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 familial porphyria cutanea tarda, and has symptoms including abdominal pain, constipation and diarrhea. An important gene associated with Porphyria is HMBS (Hydroxymethylbilane Synthase), and among its related pathways/superpathways are Metabolism and Insulin receptor recycling. The drugs Deferasirox and Colestipol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and liver, and related phenotypes are abnormal urinary color and abnormal circulating porphyrin concentration

MedlinePlus: 41 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

GARD: 19 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. 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.

Orphanet: 58 Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.

Disease Ontology: 11 An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.

Wikipedia: 75 Porphyria is a group of liver disorders in which substances called porphyrins build up in the body,... more...

Related Diseases for Porphyria

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 743)
# Related Disease Score Top Affiliating Genes
1 porphyria cutanea tarda, type i 33.0 UROD HFE
2 familial porphyria cutanea tarda 33.0 UROD HFE
3 porphyria, congenital erythropoietic 32.7 UROS UROD HMBS GATA1 FECH CPOX
4 porphyria, acute intermittent 32.2 UROS UROD PPOX HPX HMOX1 HMBS
5 variegate porphyria 32.2 UROS UROD PPOX HMBS HFE FECH
6 coproporphyria, hereditary 32.0 UROS UROD PPOX HMBS HFE FECH
7 photoparoxysmal response 1 31.5 UROD PPOX FECH
8 porphyria cutanea tarda 31.3 UROS UROD TFRC TFR2 SLC40A1 PPOX
9 cutaneous porphyria 31.3 UROS UROD PPOX HMBS HFE HAMP
10 acute porphyria 31.3 UROS UROD PPOX HPX HMOX1 HMBS
11 rare hereditary hemochromatosis 31.2 TFR2 SLC40A1 HFE HAMP
12 protoporphyria, erythropoietic, 1 31.2 UROS UROD PPOX HMOX1 HMBS FECH
13 hypertrichosis 31.2 UROS UROD PPOX HFE
14 anemia, sideroblastic, 1 30.8 UROS TFRC TFR2 SLC40A1 HFE HAMP
15 hemochromatosis, type 1 30.5 UROD TFRC TFR2 SLC40A1 HMOX1 HFE
16 siderosis 30.5 UROD TFRC SLC40A1 HMOX1 HFE HAMP
17 x-linked protoporphyria 30.5 FECH ALAS2
18 iron metabolism disease 30.4 TFRC TFR2 SLC40A1 HFE HAMP
19 polycythemia 30.3 TFRC HAMP GATA1
20 cicatricial ectropion 30.3 UROS UROD
21 beta-thalassemia 30.3 TFRC TFR2 HFE HAMP GATA1
22 hemosiderosis 30.2 TFRC TFR2 SLC40A1 HFE HAMP
23 thalassemia 30.2 TFRC TFR2 SLC40A1 HFE HAMP GATA1
24 hemolytic anemia 30.2 UROS TFRC HPX HMOX1 HFE HAMP
25 scleromalacia perforans 30.2 UROD CPOX
26 deficiency anemia 30.0 TFRC TFR2 SLC40A1 HMOX1 HFE HAMP
27 thalassemia minor 29.9 HAMP GATA1
28 gilbert syndrome 29.9 HMOX1 HFE CYP1A2
29 aplastic anemia 29.9 TFRC GATA1 FECH ALAS2
30 hypochromic microcytic anemia 29.8 TFRC SLC40A1 HAMP ALAS2
31 acute erythroid leukemia 29.6 TFRC GATA1 FECH ALAS2
32 iron deficiency anemia 29.6 TFRC TFR2 SLC40A1 HFE HAMP FECH
33 plasmodium vivax malaria 29.6 TFRC GATA1
34 erythroleukemia 29.5 TFRC GATA1 FECH CPOX ALAS2
35 sickle cell anemia 29.5 TFRC HPX HMOX1 HAMP GATA1
36 hemochromatosis, type 3 29.5 TFRC TFR2 SLC40A1 HFE HAMP
37 microcytic anemia 29.5 TFRC TFR2 SLC40A1 HFE HAMP FECH
38 sideroblastic anemia 29.4 UROD TFRC TFR2 SLC40A1 HFE HAMP
39 restless legs syndrome 29.2 TFRC HMOX1 HAMP
40 aceruloplasminemia 29.1 TFRC TFR2 SLC40A1 HPX HFE HAMP
41 beta-thalassemia major 29.1 TFRC TFR2 SLC40A1 HPX HFE HAMP
42 porphyria, acute hepatic 11.8
43 chester porphyria 11.5
44 chronic hepatic porphyria 11.4
45 aminolevulinic acid dehydratase deficiency porphyria 11.3
46 dyserythropoietic anemia and thrombocytopenia 11.1
47 aminolevulinate dehydratase deficiency porphyria 11.1
48 erythropoietic uroporphyria associated with myeloid malignancy 11.1
49 protoporphyria, erythropoietic, 2 11.0
50 protoporphyria, erythropoietic, x-linked 11.0

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

Symptoms & Phenotypes for Porphyria

Human phenotypes related to Porphyria:

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

UMLS symptoms related to Porphyria:


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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 ABCB6 ALAD ALAS1 ALAS2 CLPX CPOX
2 no effect GR00402-S-2 10.17 ABCB6 ALAS1 ALAS2 CPOX FECH GATA1
3 Reduced mammosphere formation GR00396-S 9.5 ALAD GATA1 HFE PPOX TFR2 TFRC

MGI Mouse Phenotypes related to Porphyria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.32 ABCB6 ALAD ALAS2 CPOX CYP1A2 FECH
2 liver/biliary system MP:0005370 10.22 CYP1A2 FECH GATA1 HAMP HFE HMBS
3 growth/size/body region MP:0005378 10.2 ALAD ALAS1 CLPX CPOX FECH GATA1
4 embryo MP:0005380 9.96 ALAS1 ALAS2 CLPX CPOX FECH GATA1
5 immune system MP:0005387 9.93 ALAD CPOX FECH GATA1 HAMP HFE
6 hematopoietic system MP:0005397 9.83 ABCB6 ALAD ALAS2 CPOX FECH GATA1
7 mortality/aging MP:0010768 9.6 ABCB6 ALAD ALAS1 ALAS2 CLPX CPOX

Drugs & Therapeutics for Porphyria

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 214348 5493381
2
Colestipol Approved Phase 2, Phase 3 26658-42-4 62816
3 Chelating Agents Phase 3
4 Iron Chelating Agents Phase 3
5 Lipid Regulating Agents Phase 2, Phase 3
6 Antimetabolites Phase 2, Phase 3
7 Hypolipidemic Agents Phase 2, Phase 3
8
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
9
Ledipasvir Approved Phase 2 1256388-51-8 67505836
10
Hydroxychloroquine Approved Phase 2 118-42-3 3652
11 Ledipasvir, sofosbuvir drug combination Phase 2
12 Antiviral Agents Phase 2
13 Tin mesoporphyrin Phase 1, Phase 2
14 Antirheumatic Agents Phase 2
15 Anti-Infective Agents Phase 2
16 Antimalarials Phase 2
17 Antiprotozoal Agents Phase 2
18 Antiparasitic Agents Phase 2
19
Caffeine Approved Phase 1 58-08-2 2519
20
Losartan Approved Phase 1 114798-26-4 3961
21
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
22
Dextromethorphan Approved Phase 1 125-71-3 5362449 5360696
23
Esomeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6, 119141-88-7 9568614 4594
24
Chlorpromazine Approved, Investigational, Vet_approved Phase 1 69-09-0, 50-53-3 2726
25
Dopamine Approved Phase 1 62-31-7, 51-61-6 681
26 Liver Extracts Phase 1
27 Gastrointestinal Agents Phase 1
28 Antiemetics Phase 1
29 Psychotropic Drugs Phase 1
30 Antipsychotic Agents Phase 1
31 Dopamine Antagonists Phase 1
32 Dopamine Agents Phase 1
33 Neurotransmitter Agents Phase 1
34
Iron Approved 7439-89-6 29936
35
Aminolevulinic acid Approved 106-60-5 137
36 Hormones
37 Hormone Antagonists
38 Adrenergic Agents
39 Dermatologic Agents
40 Photosensitizing Agents

Interventional clinical trials:

(show all 39)
# Name Status NCT ID Phase Drugs
1 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 Completed NCT03338816 Phase 3 Givosiran;Placebo
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 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
6 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 Completed NCT02949830 Phase 1, Phase 2 givosiran (ALN-AS1)
7 Newer Direct-Acting Anti-Viral Agents as Sole Therapy of Porphyria Cutanea Tarda in Subjects With Chronic Hepatitis C Completed NCT03118674 Phase 2 Harvoni
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 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
10 Safety and Efficacy of Panhematin™ 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 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
14 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
15 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)
16 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
17 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
18 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
19 Studies in Porphyria I: Characterization of Enzyme Defects Unknown status NCT00004331
20 Clinical Diagnosis of Acute Porphyria Completed NCT01568554
21 "Factors Associated With Porphyria Cutanea Tarda in Patients Infected With Hepatitis C Virus" Completed NCT00213772
22 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
23 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
24 Study of Nutritional Factors in Porphyria Completed NCT00004788
25 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 luteinizing hormone-releasing factor
26 A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks Completed NCT02240784
27 Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria Completed NCT03906214
28 7202 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC) Completed NCT01880983
29 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
30 Longitudinal Study of the Porphyrias Recruiting NCT01561157
31 ELEVATE, a Global Observational Longitudinal Prospective Registry of Patients With Acute Hepatic Porphyria (AHP) Recruiting NCT04883905
32 Estimating the Frequency and Neuro-Hormonal Characteristics of Acute Hepatic Porphyria in Postural Tachycardia Syndrome Recruiting NCT05344599
33 Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment Active, not recruiting NCT02935400 Hemin
34 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Active, not recruiting NCT01617642
35 Colombia National Porphyria Registry Active, not recruiting NCT05496933
36 Identification of Acute Intermittent Porphyria Modifying Genes Not yet recruiting NCT05502133
37 Prevalence of Acute Hepatic Porphyria in Population With Suggestive Clinical Picture Not yet recruiting NCT04923516
38 Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria (AHP) No longer available NCT04056481 Givosiran
39 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

Genetic Tests for Porphyria

Genetic tests related to Porphyria:

# Genetic test Affiliating Genes
1 Porphyria 28

Anatomical Context for Porphyria

Organs/tissues related to Porphyria:

MalaCards : Skin, Bone Marrow, Liver, Bone, Spleen, Kidney, Heart

Publications for Porphyria

Articles related to Porphyria:

(show top 50) (show all 8082)
# Title Authors PMID Year
1
Patient Perspective on Acute Hepatic Porphyria with Sporadic Attacks: A Chronic Disease with Substantial Health-Related Quality of Life Impacts. 62 41
35907153 2022
2
New Avenues of Heme Synthesis Regulation. 62 41
35806474 2022
3
Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives. 62 41
35392955 2022
4
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. 53 62
20479301 2010
5
Associations among behavior-related susceptibility factors in porphyria cutanea tarda. 53 62
19948245 2010
6
Molecular epidemiology of erythropoietic protoporphyria in the U.K. 53 62
20105171 2010
7
Allosteric inhibition of human porphobilinogen synthase. 53 62
19812033 2009
8
Understanding the mechanism of drug resistance due to a codon deletion in protoporphyrinogen oxidase through computational modeling. 53 62
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-. 53 62
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. 53 62
18406650 2008
11
[Successful gene therapy of mice with congenital erythropoietic porphyria]. 53 62
18601879 2008
12
Essential role of the AH receptor in the dysfunction of heme metabolism induced by 2,3,7,8-tetrachlorodibenzo-p-dioxin. 53 62
18163543 2008
13
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. 53 62
17597821 2007
14
Heme regulates exocrine peptidase precursor genes in zebrafish. 53 62
17895525 2007
15
Paraneoplastic porphyria cutanea tarda associated with cholangiocarcinoma: case report. 53 62
17891697 2007
16
A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. 53 62
17360334 2007
17
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. 53 62
17148589 2007
18
ALAD porphyria is a conformational disease. 53 62
17236137 2007
19
Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18. 53 62
16882191 2006
20
Swiss patients with variegate porphyria have unique mutations. 53 62
16947091 2006
21
Biosynthesis of heme in mammals. 53 62
16839620 2006
22
Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. 53 62
16398658 2006
23
Dual porphyria with mutations in both the UROD and HMBS genes. 53 62
16390615 2006
24
Porphyria syndrome associated with diabetic nephrosclerosis and erythropoietin. 53 62
17435269 2006
25
Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria. 53 62
15660919 2005
26
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. 53 62
15491440 2004
27
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 53 62
14669009 2004
28
The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. 53 62
15303011 2004
29
[Treatment of acute porphyrias. The importance of follow-up of patients and carriers]. 53 62
12809070 2003
30
Molecular characterization of porphyrias in Italy: a diagnostic flow-chart. 53 62
12699245 2002
31
Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic dialysis. 53 62
12508966 2002
32
Non-ahr gene susceptibility Loci for porphyria and liver injury induced by the interaction of 'dioxin' with iron overload in mice. 53 62
11854449 2002
33
Late-onset porphyrias: what are they? 53 62
11929054 2002
34
Highly heterogeneous nature of delta-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria. 53 62
11342419 2001
35
A mouse model of familial porphyria cutanea tarda. 53 62
11134514 2001
36
Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria. 53 62
11071662 2000
37
Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria. 53 62
10980536 2000
38
Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria. 53 62
10706561 2000
39
Molecular aspects of the inherited porphyrias. 53 62
10692079 2000
40
The cutaneous porphyrias. 53 62
10604794 1999
41
Formation of N-alkylprotoporphyrin IX after interaction of porphyrinogenic xenobiotics with rat liver microsomes. 53 62
10964007 1999
42
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. 53 62
10401000 1999
43
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. 53 62
10397714 1999
44
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. 53 62
10211628 1999
45
Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT. 53 62
10477430 1999
46
Chromosomal linkage analysis of porphyria in mice induced by hexachlorobenzene-iron synergism: a model of sporadic porphyria cutanea tarda. 53 62
9918132 1998
47
5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up. 53 62
9732973 1998
48
Crystal structure of human uroporphyrinogen decarboxylase. 53 62
9564029 1998
49
Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda. 53 62
9427577 1998
50
ALAD porphyria. 53 62
9516683 1998

Variations for Porphyria

Expression for Porphyria

Search GEO for disease gene expression data for Porphyria.

Pathways for Porphyria

GO Terms for Porphyria

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 10.09 UROS TFRC PPOX FECH CPOX CLPX
2 mitochondrial inner membrane GO:0005743 9.73 PPOX FECH CPOX CLPX ALAS2 ALAS1
3 HFE-transferrin receptor complex GO:1990712 9.1 TFRC TFR2 HFE

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 cellular iron ion homeostasis GO:0006879 10.21 SLC40A1 HPX HMOX1 HFE HAMP ALAS2
2 iron ion homeostasis GO:0055072 10.17 FECH HAMP HFE HMOX1 SLC40A1 TFR2
3 response to hypoxia GO:0001666 10.16 ALAD ALAS2 HMOX1 TFRC
4 response to iron ion GO:0010039 10.15 ALAD CPOX HAMP HFE TFR2 TFRC
5 heme biosynthetic process GO:0006783 10.11 UROS UROD PPOX HMBS FECH CPOX
6 erythrocyte differentiation GO:0030218 10.08 GATA1 FECH ALAS2
7 acute-phase response GO:0006953 10.04 HAMP TFR2 TFRC
8 erythrocyte development GO:0048821 10.02 GATA1 ALAS2 ALAS1
9 porphyrin-containing compound metabolic process GO:0006778 10.01 UROD CYP1A2 ALAS2 ALAS1 ABCB6
10 multicellular organismal iron ion homeostasis GO:0060586 9.95 SLC40A1 HFE HAMP
11 response to arsenic-containing substance GO:0046685 9.94 CPOX ALAD
12 positive regulation of peptide hormone secretion GO:0090277 9.93 TFR2 HFE
13 iron ion transmembrane transport GO:0034755 9.93 SLC40A1 HAMP
14 heme metabolic process GO:0042168 9.93 UROD HPX HMOX1 ABCB6
15 transferrin transport GO:0033572 9.92 TFRC TFR2
16 cellular response to arsenic-containing substance GO:0071243 9.92 UROS HMOX1
17 heme transport GO:0015886 9.91 HPX ABCB6
18 iron ion transport GO:0006826 9.91 SLC40A1 TFR2 TFRC
19 cellular response to iron ion GO:0071281 9.89 TFR2 HFE
20 hemoglobin biosynthetic process GO:0042541 9.88 ALAS2 ALAS1
21 response to methylmercury GO:0051597 9.88 CPOX ALAD
22 response to iron ion starvation GO:1990641 9.86 HFE HAMP
23 response to platinum ion GO:0070541 9.84 UROS ALAD
24 regulation of transcription from RNA polymerase II promoter in response to iron GO:0034395 9.83 SLC40A1 HMOX1
25 tetrapyrrole biosynthetic process GO:0033014 9.72 UROS HMBS ALAS2 ALAS1 ALAD
26 response to inorganic substance GO:0010035 9.67 TFRC CPOX ALAD
27 porphyrin-containing compound biosynthetic process GO:0006779 9.65 ABCB6 ALAD CPOX FECH HMBS PPOX
28 protoporphyrinogen IX biosynthetic process GO:0006782 9.53 ALAD ALAS1 ALAS2 CPOX HMBS PPOX

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.92 HMOX1 FECH CYP1A2 ABCB6
2 co-receptor binding GO:0039706 9.67 TFR2 HFE
3 transferrin receptor activity GO:0004998 9.56 TFRC TFR2
4 5-aminolevulinate synthase activity GO:0003870 9.46 ALAS2 ALAS1
5 tetrapyrrole binding GO:0046906 9.13 FECH ABCB6
6 lyase activity GO:0016829 9.02 UROS UROD FECH CYP1A2 ALAD

Sources for Porphyria

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....