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MCID: PRP029
MIFTS: 62

Porphyria

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

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MalaCards integrated aliases for Porphyria:

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

Classifications:

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


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Summaries for Porphyria

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MedlinePlus : 43 Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. There are two main types of porphyrias. One affects the skin and the other affects the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go. Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress, and sun exposure. Attacks develop over hours or days. They can last for days or weeks. Porphyria can be hard to diagnose. It requires blood, urine, and stool tests. Each type of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

MalaCards based summary : Porphyria, also known as hematoporphyria, is related to porphyria cutanea tarda, type i and familial porphyria cutanea tarda, and has symptoms including abdominal pain, constipation and diarrhea. 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 Iron have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and bone marrow, and related phenotypes are hallucinations and hypertension

Disease Ontology : 12 An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.

Genetics Home Reference : 25 Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).

NIH Rare Diseases : 53 Porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body’s organs. Major types include ALAD deficiency porphyria, acute intermittent porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria. The most common type of porphyria is porphyria cutanea tarda. Some of the symptoms of porphyria include blistering, swelling, and itching when the skin is exposed to sun. Other symptoms may also include pain, numbness or tingling, vomiting, constipation, and intellectual disability. There is no known cure for porphyria, but the various types have different courses of treatment, and may include bone marrow transplant.Most porphyrias are inherited conditions with either an autosomal dominant or autosomal recessive pattern of inheritance. However, some forms of porphyria can be caused by environmental factors such as infections or exposures to certain prescription drugs. Porphyrias caused by environmental factors are called sporadic or acquired porphyria.

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

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Related Diseases for Porphyria

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Diseases in the Porphyria family:

Acute Porphyria

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

(show top 50) (show all 248)
# Related Disease Score Top Affiliating Genes
1 porphyria cutanea tarda, type i 34.5 HFE UROD
2 familial porphyria cutanea tarda 34.0 HFE UROD
3 cutaneous porphyria 33.6 FECH UROD UROS
4 porphyria variegata 31.5 ALAD CPOX FECH HFE HMBS PPOX
5 porphyria, acute intermittent 31.1 ALAD ALAS1 CPOX FECH HMBS PPOX
6 porphyria, congenital erythropoietic 31.0 ALAD CPOX FECH GATA1 HMBS UROD
7 protoporphyria, erythropoietic 30.5 ALAD ALAS2 CPOX FECH HMBS PPOX
8 hemosiderosis 30.1 HFE TF
9 siderosis 29.7 HFE TF UROD
10 porphyria cutanea tarda 29.6 ALAD ALAS1 CPOX FECH HFE HMBS
11 hemochromatosis, type 1 29.5 HFE TF UROD
12 liver disease 29.3 FECH HFE TF
13 acute porphyria 29.2 ALAD ALAS1 ALAS2 CPOX FECH HFE
14 thalassemia 28.3 GATA1 HFE TF
15 beta-thalassemia 28.3 GATA1 HFE TF
16 coproporphyria, hereditary 28.1 ALAD ALAS1 ALAS2 CPOX FECH GATA1
17 porphyria, acute hepatic 12.5
18 chester porphyria 12.4
19 aminolevulinic acid dehydratase deficiency porphyria 12.2
20 aminolevulinate dehydratase deficiency porphyria 12.0
21 protoporphyria, erythropoietic, x-linked 11.5
22 maleylacetoacetate isomerase deficiency 10.8
23 hepatitis 10.7
24 hepatitis c 10.5
25 hepatitis c virus 10.3
26 erythropoietic uroporphyria associated with myeloid malignancy 10.3
27 x-linked protoporphyria 10.3 ALAS2 FECH
28 iron overload in africa 10.3 HFE TF
29 lupus erythematosus 10.2
30 rhizomelic chondrodysplasia punctata, type 2 10.2 HFE UROD
31 hyperferritinemia with or without cataract 10.2 HFE TF
32 hepatocellular carcinoma 10.1
33 metal metabolism disorder 10.1 HFE TF
34 neuropathy 10.1
35 systemic lupus erythematosus 10.1
36 encephalopathy 10.0
37 iron metabolism disease 10.0 HFE TF
38 hyperphenylalaninemia due to dehydratase deficiency 10.0
39 bilirubin metabolic disorder 10.0
40 epilepsy 10.0
41 leukemia 9.9
42 epileptic encephalopathy, early infantile, 36 9.9 DPAGT1 TF
43 viral hepatitis 9.9
44 diabetes mellitus 9.9
45 isolated agammaglobulinemia 9.9
46 alopecia 9.8
47 cutaneous lupus erythematosus 9.8
48 hypertrichosis 9.8
49 pancreatitis 9.8
50 peripheral nervous system disease 9.8

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


Hypertension, Essential

Graphical network of the top 20 diseases related to Porphyria:



Diseases related to Porphyria
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Symptoms & Phenotypes for Porphyria

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Human phenotypes related to Porphyria:

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

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased number of mitotic cells GR00098-A-3 9.13 CPOX GATA1 TF
2 Reduced mammosphere formation GR00396-S 9.02 ALAD GATA1 HFE PPOX UROD

MGI Mouse Phenotypes related to Porphyria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.81 GATA1 HFE HMBS PPOX TF UROD
2 mortality/aging MP:0010768 9.36 HFE HMBS PPOX TF UROD UROS
3 liver/biliary system MP:0005370 9.35 GATA1 HFE UROD UROS FECH
Sources

Drugs & Therapeutics for Porphyria

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

(show all 49)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 3,Phase 2 201530-41-8 5493381
2
Iron Approved Phase 3,Phase 2,Not Applicable 7439-89-6 23925
3
Colestipol Approved Phase 2, Phase 3 26658-42-4
4 alpha-MSH Phase 3,Phase 2 581-05-5
5 Hormone Antagonists Phase 3,Phase 2,Not Applicable
6 Hormones Phase 3,Phase 2,Not Applicable
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Not Applicable
8 Chelating Agents Phase 3,Phase 2
9 Iron Chelating Agents Phase 3,Phase 2
10 Antimetabolites Phase 2, Phase 3,Not Applicable
11 Hypolipidemic Agents Phase 2, Phase 3,Not Applicable
12 Lipid Regulating Agents Phase 2, Phase 3,Not Applicable
13 cysteine Nutraceutical Phase 3,Not Applicable
14
Hydroxychloroquine Approved Phase 2 118-42-3 3652
15
Ledipasvir Approved Phase 2 1256388-51-8 67505836
16
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
17
Tin Phase 1, Phase 2,Phase 2 7440-31-5
18 Tin mesoporphyrin Phase 1, Phase 2,Phase 2
19 Anti-Infective Agents Phase 2,Not Applicable
20 Antimalarials Phase 2
21 Antiparasitic Agents Phase 2
22 Antiprotozoal Agents Phase 2
23 Antirheumatic Agents Phase 2
24 Antiviral Agents Phase 2
25 Ledipasvir, sofosbuvir drug combination Phase 2
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 Antiemetics Phase 1
30 Antipsychotic Agents Phase 1
31 Autonomic Agents Phase 1
32 Central Nervous System Depressants Phase 1
33 Dopamine Agents Phase 1
34 Dopamine Antagonists Phase 1
35 Gastrointestinal Agents Phase 1
36 Neurotransmitter Agents Phase 1
37 Peripheral Nervous System Agents Phase 1
38 Psychotropic Drugs Phase 1
39 Tranquilizing Agents Phase 1
40
Aminolevulinic acid Approved ,Not Applicable 106-60-5 137
41
Isoniazid Approved, Investigational Not Applicable 54-85-3 3767
42
Protoporphyrin IX Experimental Not Applicable 553-12-8
43 Micronutrients Not Applicable
44 Trace Elements Not Applicable
45 Anti-Bacterial Agents Not Applicable
46 Antitubercular Agents Not Applicable
47 Dermatologic Agents Not Applicable
48 Photosensitizing Agents Not Applicable
49 Iron Supplement Nutraceutical Not Applicable

Interventional clinical trials:

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

Search NIH Clinical Center for Porphyria

Cochrane evidence based reviews: porphyrias

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Genetic Tests for Porphyria

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Genetic tests related to Porphyria:

# Genetic test Affiliating Genes
1 Porphyria 29
Sources

Anatomical Context for Porphyria

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MalaCards organs/tissues related to Porphyria:

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

Publications for Porphyria

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Articles related to Porphyria:

(show top 50) (show all 2258)
# Title Authors Year
1
An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria. ( 28990424 )
2018
2
Acute Primary Adrenal Insufficiency after Hip Replacement in a Patient with Acute Intermittent Porphyria. ( 29515921 )
2018
3
Brain perfusion defects by SPET/CT and neurostat semi-quantitative analysis in two patients with congenital erythropoietic porphyria. ( 29705816 )
2018
4
Porphyria and kidney diseases. ( 29644058 )
2018
5
Medical and financial burden of acute intermittent porphyria. ( 29675607 )
2018
6
Patient Perspective on Acute Intermittent Porphyria with Frequent Attacks: A Disease with Intermittent and Chronic Manifestations. ( 29915990 )
2018
7
Total Corneal Melt in Patient with Porphyria Cutanea Tarda in Presence of another Risk Factor. ( 29370566 )
2018
8
Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm. ( 29416446 )
2018
9
The devil's in the dosing: severe drug-induced liver injury in a hydroxychloroquine-naive patient with subacute cutaneous lupus erythematosus and porphyria cutanea tarda. ( 29631513 )
2018
10
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. ( 29594648 )
2018
11
Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil). ( 29641722 )
2018
12
From a dominant to an oligogenic model of inheritance with environmental modifiers in Acute Intermittent Porphyria. ( 29360981 )
2018
13
Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo. ( 29928199 )
2018
14
Pseudo porphyria or porphyria cutanea tarda? ( 29791431 )
2018
15
Acute intermittent porphyria: general aspects with focus on pain. ( 29383964 )
2018
16
Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4-aminoquinoline antimalarial: A Meta-analysis. ( 29750336 )
2018
17
Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria. ( 29317194 )
2018
18
Porphyria: often discussed but too often missed. ( 29540448 )
2018
19
Porphyria cutanea tarda presenting as milia and blisters. ( 29789288 )
2018
20
Psychiatric Aspects of Acute Porphyria: a Comprehensive Review. ( 29392446 )
2018
21
Diagnosing diabetes mellitus in patients with porphyria cutanea tarda. ( 29516487 )
2018
22
A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy. ( 29915773 )
2018
23
Whole Exome Sequencing Identified a Novel Heterozygous Mutation in <i>HMBS</i> Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia. ( 29731767 )
2018
24
SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry. ( 29774528 )
2018
25
Acute Intermittent Porphyria in the North of China: The Acute Attack Effect on Quality of Life and Psychological Condition. ( 29862261 )
2018
26
Porphyria: What Is It and Who Should Be Evaluated? ( 29553924 )
2018
27
Rapid spectrophotometric quantification of urinary porphyrins and porphobilinogen as screening tool for attacks of acute porphyria. ( 29855177 )
2018
28
sQuiz your knowledge: Expanding scarring alopecia in a patient with porphyria cutanea tarda. ( 28400347 )
2017
29
Acute intermittent porphyria: a test of clinical acumen. ( 28638573 )
2017
30
Congenital erythropoietic porphyria (Gunther disease) - long-term follow up of a case and review. ( 28329491 )
2017
31
Acute intermittent porphyria after right hemi-colectomy. ( 28988019 )
2017
32
Direct-acting antivirals for hepatitis C virus induce a rapid clinical and biochemical remission of porphyria cutanea tarda. ( 28369802 )
2017
33
Resolution of porphyria cutanea tarda in HIV and mixed HCV coinfection after direct-acting antiviral (DAA) therapy. ( 29091216 )
2017
34
Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria. ( 28348263 )
2017
35
Effect of Menstrual Cycle on Acute Intermittent Porphyria. ( 29094055 )
2017
36
Anti-HCV for porphyria cutanea tarda. ( 28133909 )
2017
37
Porphyria cutanea tarda: an intriguing genetic disease and marker. ( 28321838 )
2017
38
Disappearance of multiple hyperechoic liver nodules in sporadic porphyria cutanea tarda after treatment with ledipasvir/sofosbuvir for hepatitis C. ( 28884440 )
2017
39
Porphyria. ( 28854095 )
2017
40
Psychiatric symptoms associated with porphyria: A case report and brief review. ( 28738101 )
2017
41
Diagnosis and Treatment of Acute Intermittent Porphyria. ( 29338831 )
2017
42
Treatment of acute intermittent porphyria during pregnancy and posterior reversible encephalopathy syndrome after delivery: A case report. ( 29285091 )
2017
43
Porphyria. ( 29182253 )
2017
44
Effects of hemin and hemodialysis in a patient with acute intermittent porphyria and renal failure. ( 29296735 )
2017
45
Porphyria Cutanea Tarda as the Initial Manifestation of Subclinical Hereditary Hemochromatosis. ( 28479501 )
2017
46
Hepatitis C Viral Infection and Porphyria Cutanea Tarda. ( 28755733 )
2017
47
Perioperative Challenges in Liver Transplantation for a Patient With Acute Intermittent Porphyria. ( 29306617 )
2017
48
Sporadic Porphyria in a patient with stage II melanoma treated with interferon I+. ( 28464763 )
2017
49
Acute intermittent porphyria presenting as posterior reversible encephalopathy syndrome with hyperperfusion in bilateral occipital lobes: A case report. ( 28477706 )
2017
50
Cerebral vasospasm in acute porphyria. ( 28695690 )
2017
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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.
Sources

Pathways for Porphyria

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Pathways related to Porphyria according to KEGG:

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

Pathways related to Porphyria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.29 ALAD ALAS1 ALAS2 CPOX DPAGT1 FECH
2
Porphyrin and chlorophyll metabolism 37
Show member pathways
 11.63 ALAD ALAS1 ALAS2 CPOX FECH HMBS
3
Glycine, serine and threonine metabolism 37
Show member pathways
 10.87 ALAS1 ALAS2
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 9.73 ALAS1 ALAS2 CPOX FECH PPOX UROS
2 mitochondrial inner membrane GO:0005743 9.46 ALAS2 CPOX FECH PPOX
3 basal part of cell GO:0045178 8.96 HFE TF
4 HFE-transferrin receptor complex GO:1990712 8.62 HFE TF

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 heme biosynthetic process GO:0006783 9.81 ALAD ALAS1 ALAS2 CPOX FECH HMBS
2 cellular iron ion homeostasis GO:0006879 9.71 ALAS2 HFE TF
3 tetrapyrrole biosynthetic process GO:0033014 9.65 ALAD ALAS1 ALAS2 HMBS UROS
4 response to lead ion GO:0010288 9.63 ALAD CPOX FECH
5 erythrocyte differentiation GO:0030218 9.61 ALAS2 GATA1
6 response to iron ion GO:0010039 9.61 ALAD CPOX HFE
7 biosynthetic process GO:0009058 9.6 ALAS1 ALAS2
8 iron ion homeostasis GO:0055072 9.59 HFE TF
9 transferrin transport GO:0033572 9.58 HFE TF
10 positive regulation of receptor-mediated endocytosis GO:0048260 9.58 HFE TF
11 response to arsenic-containing substance GO:0046685 9.58 ALAD CPOX FECH
12 response to metal ion GO:0010038 9.57 ALAD FECH
13 response to inorganic substance GO:0010035 9.56 ALAD CPOX
14 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 ALAD ALAS1 ALAS2 CPOX HMBS PPOX
15 cellular response to iron ion GO:0071281 9.55 HFE TF
16 response to methylmercury GO:0051597 9.54 ALAD CPOX FECH
17 porphyrin-containing compound metabolic process GO:0006778 9.52 ALAS1 ALAS2
18 response to insecticide GO:0017085 9.51 CPOX FECH
19 response to platinum ion GO:0070541 9.5 ALAD FECH UROS
20 regulation of iron ion import GO:1900390 9.49 HFE TF
21 protoporphyrinogen IX metabolic process GO:0046501 9.48 FECH PPOX
22 porphyrin-containing compound biosynthetic process GO:0006779 9.17 ALAD CPOX FECH HMBS PPOX UROD

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

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

Sources for Porphyria

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