MCID: PRP029
MIFTS: 62

Porphyria

Categories: Rare diseases, Metabolic diseases, Blood diseases

Aliases & Classifications for Porphyria

MalaCards integrated aliases for Porphyria:

Name: Porphyria 12 72 72 49 24 36 28 51 40 14
Hematoporphyria 12 24
Disorder of Porphyrin and Hem Metabolism 12
Disorders of Porphyrin Metabolism 69
Disorder of Porphyrin Metabolism 12
Porphyrin Disorder 24
Porphyrinopathy 12
Porphyrias 41

Classifications:



Summaries for Porphyria

MedlinePlus : 40 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 familial porphyria cutanea tarda and cutaneous porphyria, and has symptoms including hallucinations, hypertension and pruritus. 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, bone marrow and bone, and related phenotypes are Increased number of mitotic cells and homeostasis/metabolism

NIH Rare Diseases : 49 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. Last updated: 3/22/2017

Genetics Home Reference : 24 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).

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.

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 247)
# Related Disease Score Top Affiliating Genes
1 familial porphyria cutanea tarda 33.6 HFE UROD
2 cutaneous porphyria 33.5 FECH UROD UROS
3 porphyria variegata 32.4 ALAD CPOX FECH HFE HMBS PPOX
4 porphyria, acute intermittent 32.2 ALAD ALAS1 CPOX FECH HMBS PPOX
5 porphyria, congenital erythropoietic 32.1 ALAD CPOX FECH GATA1 HMBS UROD
6 porphyria cutanea tarda 31.4 ALAD CPOX CYP1A2 FECH HFE HMBS
7 protoporphyria, erythropoietic 31.2 ALAD ALAS2 CPOX FECH HMBS PPOX
8 acute porphyria 30.8 ALAD ALAS1 ALAS2 CPOX FECH HFE
9 hemosiderosis 30.1 HFE TF
10 coproporphyria, hereditary 29.9 ALAD ALAS1 ALAS2 CPOX FECH GATA1
11 siderosis 29.7 HFE TF UROD
12 hemochromatosis, type 1 29.6 HFE TF UROD
13 liver disease 29.3 FECH HFE TF
14 thalassemia 28.7 GATA1 HFE TF
15 beta-thalassemia 28.7 GATA1 HFE TF
16 porphyria, acute hepatic 12.5
17 porphyria cutanea tarda, type i 12.4
18 chester porphyria 12.4
19 aminolevulinate dehydratase deficiency porphyria 12.2
20 aminolevulinic acid dehydratase deficiency porphyria 11.9
21 protoporphyria, erythropoietic, x-linked 11.5
22 maleylacetoacetate isomerase deficiency 10.9
23 hepatitis 10.6
24 hepatitis c 10.5
25 hepatitis c virus 10.3
26 erythropoietic uroporphyria associated with myeloid malignancy 10.3
27 lupus erythematosus 10.2
28 x-linked protoporphyria 10.2 ALAS2 FECH
29 episodic pain syndrome, familial, 1 10.2
30 iron overload in africa 10.2 HFE TF
31 neuropathy 10.1
32 hepatocellular carcinoma 10.1
33 hyperferritinemia with or without cataract 10.1 HFE TF
34 metal metabolism disorder 10.1 HFE TF
35 systemic lupus erythematosus 10.1
36 encephalopathy 10.1
37 rhizomelic chondrodysplasia punctata, type 2 10.0 HFE UROD
38 leukemia 10.0
39 hyperphenylalaninemia due to dehydratase deficiency 10.0
40 iron metabolism disease 10.0 HFE TF
41 bilirubin metabolic disorder 10.0
42 epilepsy 9.9
43 viral hepatitis 9.9
44 isolated agammaglobulinemia 9.9
45 inherited metabolic disorder 9.8 FECH HFE TF
46 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
47 diabetes mellitus 9.8
48 hypertrichosis 9.8
49 pancreatitis 9.8
50 discoid lupus erythematosus 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

Symptoms & Phenotypes for Porphyria

Human phenotypes related to Porphyria:

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

UMLS symptoms related to Porphyria:


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

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased number of mitotic cells GR00098-A-3 8.8 CPOX GATA1 TF

MGI Mouse Phenotypes related to Porphyria:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 HMBS PPOX TF UROD UROS ALAS2
2 liver/biliary system MP:0005370 9.43 UROD UROS CYP1A2 FECH GATA1 HFE
3 mortality/aging MP:0010768 9.36 HMBS PPOX TF UROD UROS ALAS1

Drugs & Therapeutics for Porphyria

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 7439-89-6 23925
3
Colestipol Approved Phase 2, Phase 3 26658-42-4, 50925-79-6 62816
4 alpha-MSH Phase 3,Phase 2
5 Hormone Antagonists Phase 3,Phase 2
6 Hormones Phase 3,Phase 2
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
8 Chelating Agents Phase 3,Phase 2
9 Iron Chelating Agents Phase 3,Phase 2
10 Antimetabolites Phase 2, Phase 3
11 Hypolipidemic Agents Phase 2, Phase 3
12 Lipid Regulating Agents Phase 2, Phase 3
13 cysteine Nutraceutical Phase 3
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 7440-31-5
18 Tin mesoporphyrin Phase 1, Phase 2
19 Anti-Infective Agents Phase 2
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 106-60-5 137
41
Isoniazid Approved, Investigational 54-85-3 3767
42
Protoporphyrin IX Experimental 553-12-8
43 Micronutrients
44 Trace Elements
45 Anti-Bacterial Agents
46 Antitubercular Agents
47 Dermatologic Agents
48 Photosensitizing Agents
49 Iron Supplement Nutraceutical

Interventional clinical trials:

(show all 41)

# 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 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
5 Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT00979745 Phase 3 Afamelanotide;Placebo
6 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
7 Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea Tarda Unknown status NCT01284946 Phase 2 Exjade
8 Heme Arginate in Cardiac Surgery Patients Unknown status NCT02142699 Phase 2 Heme arginate
9 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
10 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
11 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2 recombinant human porphobilinogen deaminase (Porphozym)
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 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)
18 Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
19 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)
20 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
21 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
22 Hemin in Healthy Subjects Completed NCT00882804 Phase 1 Hemin infusion;placebo infusion
23 Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine Hydrochloride Completed NCT02943213 Phase 1 Chlorpromazine Hydrochloride
24 Studies in Porphyria I: Characterization of Enzyme Defects Unknown status NCT00004331
25 Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria Unknown status NCT00206869
26 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
27 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
28 Study of Nutritional Factors in Porphyria Completed NCT00004788
29 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 luteinizing hormone-releasing factor
30 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
31 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
32 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 cysteine hydrochloride
33 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
34 Longitudinal Study of the Porphyrias Recruiting NCT01561157
35 Clinical Diagnosis of Acute Porphyria Recruiting NCT01568554
36 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Recruiting NCT01688895
37 Oral Iron for Erythropoietic Protoporphyrias Recruiting NCT02979249 Oral Iron
38 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)) Active, not recruiting NCT01880983
39 Acute Porphyria Biomarkers for Disease Activity Enrolling by invitation NCT02935400 Hemin
40 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Not yet recruiting NCT01617642
41 Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria Terminated NCT01550705 Isoniazid

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

MalaCards organs/tissues related to Porphyria:

38
Liver, Bone Marrow, Bone, Skin, Testes, Kidney, Brain

Publications for Porphyria

Articles related to Porphyria:

(show top 50) (show all 2158)
# Title Authors Year
1
Total Corneal Melt in Patient with Porphyria Cutanea Tarda in Presence of another Risk Factor. ( 29370566 )
2018
2
Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm. ( 29416446 )
2018
3
An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria. ( 28990424 )
2018
4
Acute intermittent porphyria: general aspects with focus on pain. ( 29383964 )
2018
5
From a dominant to an oligogenic model of inheritance with environmental modifiers in Acute Intermittent Porphyria. ( 29360981 )
2018
6
Psychiatric Aspects of Acute Porphyria: a Comprehensive Review. ( 29392446 )
2018
7
Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria. ( 29317194 )
2018
8
Cerebral vasospasm in acute porphyria. ( 28695690 )
2017
9
Porphyria. ( 29166231 )
2017
10
Direct-acting antivirals for hepatitis C virus induce a rapid clinical and biochemical remission of porphyria cutanea tarda. ( 28369802 )
2017
11
Acute hepatic porphyria and cancer risk: a nationwide cohort study. ( 28730628 )
2017
12
Is liver transplantation for intractable attacks of porphyria a viable treatment in a developing country? ( 29140538 )
2017
13
Anti-HCV for porphyria cutanea tarda. ( 28133909 )
2017
14
Hepatitis C Treatment in Patients With Porphyria Cutanea Tarda. ( 28641714 )
2017
15
A case of porphyria cutanea tarda of the liver exhibiting multifocal macrovesicular steatosis in the background of microvesicular steatosis, probably caused by uneven iron accumulation. ( 28130583 )
2017
16
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition. ( 28334762 )
2017
17
Treatment of acute intermittent porphyria during pregnancy and posterior reversible encephalopathy syndrome after delivery: A case report. ( 29285091 )
2017
18
Sporadic Porphyria in a patient with stage II melanoma treated with interferon I+. ( 28464763 )
2017
19
Hepatitis C Viral Infection and Porphyria Cutanea Tarda. ( 28755733 )
2017
20
Porphyria Cutanea Tarda in a Patient with End-Stage Renal Disease: A Case of Successful Treatment with Deferoxamine and Ferric Carboxymaltose. ( 28210512 )
2017
21
Radiation and chemotherapy with no excessive toxicity in a patient with human papillomavirus-related tonsillar cancer and porphyria cutanea tarda: Case report and literature review. ( 28815861 )
2017
22
Effects of hemin and hemodialysis in a patient with acute intermittent porphyria and renal failure. ( 29296735 )
2017
23
Psychiatric symptoms associated with porphyria: A case report and brief review. ( 28738101 )
2017
24
Porphyria. ( 29182251 )
2017
25
Disappearance of multiple hyperechoic liver nodules in sporadic porphyria cutanea tarda after treatment with ledipasvir/sofosbuvir for hepatitis C. ( 28884440 )
2017
26
Clinical, Biochemical Characteristics and Hospital Outcome of Acute Intermittent Porphyria Patients: A Descriptive Study from North India. ( 28904459 )
2017
27
Porphyria cutanea tardaA in a patient with hepatitis C. ( 28416230 )
2017
28
Clinical characteristic of psychiatric symptoms in Acute Intermittent Porphyria (AIP): A report of a pair of identical twins. ( 28704787 )
2017
29
Lead Poisoning Can Be Easily Misdiagnosed as Acute Porphyria and Nonspecific Abdominal Pain. ( 28630774 )
2017
30
Novel heterozygous mutation of protoporphyrinogen oxidase gene in a Chinese patient with variegate porphyria. ( 28733981 )
2017
31
Diagnosis and Treatment of Acute Intermittent Porphyria. ( 29338831 )
2017
32
sQuiz your knowledge: Expanding scarring alopecia in a patient with porphyria cutanea tarda. ( 28400347 )
2017
33
Effect of Menstrual Cycle on Acute Intermittent Porphyria. ( 29094055 )
2017
34
Porphyria cutanea tarda: an intriguing genetic disease and marker. ( 28321838 )
2017
35
Perioperative Challenges in Liver Transplantation for a Patient With Acute Intermittent Porphyria. ( 29306617 )
2017
36
Acute pancreatitis due to anA attack of acute intermittent porphyria. ( 28984284 )
2017
37
Acute intermittent porphyria: a test of clinical acumen. ( 28638573 )
2017
38
Acute intermittent porphyria after right hemi-colectomy. ( 28988019 )
2017
39
Resolution of porphyria cutanea tarda in HIV and mixed HCV coinfection after direct-acting antiviral (DAA) therapy. ( 29091216 )
2017
40
Acute intermittent porphyria presenting as posterior reversible encephalopathy syndrome with hyperperfusion in bilateral occipital lobes: A case report. ( 28477706 )
2017
41
Sporadic Porphyria Cutanea Tarda Induced by Alcohol Abuse. ( 28776562 )
2017
42
Porphyria. ( 28854095 )
2017
43
Porphyria. ( 29182253 )
2017
44
An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom. ( 28220410 )
2017
45
Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria. ( 28348263 )
2017
46
Porphyria Cutanea Tarda as the Initial Manifestation of Subclinical Hereditary Hemochromatosis. ( 28479501 )
2017
47
Comprehensive analysis of the tryptophan metabolome in urine of patients with acute intermittent porphyria. ( 28666226 )
2017
48
Porphyria cutanea tarda associated with HFE C282Y homozygosity, iron overload, and use of a contraceptive vaginal ring. ( 26908385 )
2016
49
Acute intermittent porphyria-related leukoencephalopathy. ( 27558376 )
2016
50
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6. ( 27507172 )
2016

Variations for Porphyria

Expression for Porphyria

Search GEO for disease gene expression data for Porphyria.

Pathways for Porphyria

Pathways related to Porphyria according to KEGG:

36
# Name Kegg Source Accession
1 Porphyrin and chlorophyll metabolism hsa00860

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 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 response to drug GO:0042493 9.85 ALAD CYP1A2 FECH PPOX
2 heme biosynthetic process GO:0006783 9.81 ALAD ALAS1 ALAS2 CPOX FECH HMBS
3 cellular iron ion homeostasis GO:0006879 9.7 ALAS2 HFE TF
4 response to iron ion GO:0010039 9.65 ALAD CPOX HFE
5 tetrapyrrole biosynthetic process GO:0033014 9.65 ALAD ALAS1 ALAS2 HMBS UROS
6 response to lead ion GO:0010288 9.63 ALAD CPOX FECH
7 erythrocyte differentiation GO:0030218 9.61 ALAS2 GATA1
8 response to arsenic-containing substance GO:0046685 9.61 ALAD CPOX FECH
9 iron ion homeostasis GO:0055072 9.6 HFE TF
10 biosynthetic process GO:0009058 9.59 ALAS1 ALAS2
11 transferrin transport GO:0033572 9.58 HFE TF
12 positive regulation of receptor-mediated endocytosis GO:0048260 9.58 HFE TF
13 response to methylmercury GO:0051597 9.58 ALAD CPOX FECH
14 response to metal ion GO:0010038 9.57 ALAD FECH
15 response to inorganic substance GO:0010035 9.56 ALAD CPOX
16 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 ALAD ALAS1 ALAS2 CPOX HMBS PPOX
17 cellular response to iron ion GO:0071281 9.54 HFE TF
18 porphyrin-containing compound metabolic process GO:0006778 9.54 ALAS1 ALAS2 CYP1A2
19 response to insecticide GO:0017085 9.51 CPOX FECH
20 response to platinum ion GO:0070541 9.5 ALAD FECH UROS
21 protoporphyrinogen IX metabolic process GO:0046501 9.49 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 for Porphyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....