MCID: PRP029
MIFTS: 59

Porphyria malady

Categories: Rare diseases, Metabolic diseases, Blood diseases, Genetic diseases, Liver diseases

Aliases & Classifications for Porphyria

Aliases & Descriptions for Porphyria:

Name: Porphyria 12 71 50 25 29 52 41 14
Hematoporphyria 12 25
Disorder of Porphyrin and Hem Metabolism 12
Disorders of Porphyrin Metabolism 69
Disorder of Porphyrin Metabolism 12
Porphyrin Disorder 25
Porphyrinopathy 12
Porphyrias 42

Classifications:



External Ids:

Disease Ontology 12 DOID:13268
ICD10 33 E80.20
ICD9CM 35 277.1
MeSH 42 D011164
NCIt 47 C97096
UMLS 69 C0032708

Summaries for Porphyria

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

MalaCards based summary : Porphyria, also known as hematoporphyria, is related to lymphoid leukemia and porphyria cutanea tarda, and has symptoms including pruritus, constipation and fatigue. An important gene associated with Porphyria is HMBS (Hydroxymethylbilane Synthase), and among its related pathways/superpathways are Metabolism and Porphyrin and chlorophyll metabolism. The drugs Deferasirox and Iron have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and bone, and related phenotypes are Increased number of mitotic cells and homeostasis/metabolism

NIH Rare Diseases : 50 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 : 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).

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.

Wikipedia : 71 Porphyria is a group of diseases in which substances called porphyrins build up, affecting the skin or... more...

Related Diseases for Porphyria

Diseases in the Porphyria family:

Acute Porphyria Urod-Related Porphyrias

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

(show top 50) (show all 221)
id Related Disease Score Top Affiliating Genes
1 lymphoid leukemia 28.9 FECH HFE TF
2 porphyria cutanea tarda 12.6
3 porphyria, acute intermittent 12.5
4 porphyria variegata 12.5
5 porphyria, congenital erythropoietic 12.4
6 porphyria, acute hepatic 12.3
7 chester porphyria 12.3
8 acute porphyria 12.2
9 porphyria cutanea tarda, type i 12.2
10 coproporphyria 12.1
11 cutaneous porphyria 12.1
12 familial porphyria cutanea tarda 12.0
13 aminolevulinate dehydratase deficiency porphyria 11.9
14 urod-related porphyrias 11.8
15 protoporphyria, erythropoietic, autosomal recessive 11.4
16 protoporphyria, erythropoietic, x-linked 11.2
17 hydrops fetalis, nonimmune 10.7
18 ala dehydratase deficiency 10.7
19 hepatitis 10.6
20 hepatitis c 10.4
21 hepatitis c virus 10.2
22 erythropoietic uroporphyria associated with myeloid malignancy 10.2
23 hemochromatosis 10.2
24 16q24.3 microdeletion syndrome 10.1 ALAS2 FECH
25 muscular dystrophy, congenital, 1b 10.1 HFE UROD
26 dermatoleukodystrophy 10.1 HFE TF
27 lupus erythematosus 10.1
28 tmem216-related meckel syndrome 10.1 HFE TF
29 crater-like holes of optic disc 10.1 FECH UROD UROS
30 harp syndrome 10.1 HFE TF
31 tmem231-related joubert syndrome 10.1 HFE TF
32 kaolin pneumoconiosis 10.0 HFE TF UROD
33 post-thrombotic syndrome 10.0 HFE TF
34 neuropathy 10.0
35 hepatocellular carcinoma 10.0
36 episcleritis periodica fugax 10.0 HFE TF
37 nasu-hakola disease 10.0 HFE TF UROD
38 systemic lupus erythematosus 10.0
39 posterior uveal melanoma 10.0 FECH HFE TF
40 facial paresis, hereditary congenital, 1 9.9 ALAS2 HFE TF
41 encephalopathy 9.9
42 leukemia 9.9
43 neuronal ceroid-lipofuscinoses 9.9 ALAS2 HFE TF
44 epilepsy 9.9
45 thalassemia-beta, dominant inclusion-body 9.8 GATA1 HFE TF
46 viral hepatitis 9.8
47 liver disease 9.8
48 tracheal cancer 9.8 GATA1 HFE TF
49 adenosine triphosphate, elevated, of erythrocytes 9.8 GATA1 HFE
50 siderosis 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:

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

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
id 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 UROS ALAS2 CYP1A2 FECH GATA1 HFE
2 liver/biliary system MP:0005370 9.43 CYP1A2 FECH GATA1 HFE UROD UROS
3 mortality/aging MP:0010768 9.36 ALAS1 ALAS2 CYP1A2 FECH GATA1 HFE

Drugs & Therapeutics for Porphyria

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

(show all 49)
id 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, 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 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 40)
id Name Status NCT ID Phase
1 Phase III Confirmatory Study in Erythropoietic Protoporphyria Unknown status NCT01605136 Phase 3
2 Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda Completed NCT00599326 Phase 3
3 Sorbent Therapy of the Cutaneous Porphyrias Completed NCT01422915 Phase 2, Phase 3
4 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3
5 Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT00979745 Phase 3
6 Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea Tarda Unknown status NCT01284946 Phase 2
7 Heme Arginate in Cardiac Surgery Patients Unknown status NCT02142699 Phase 2
8 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2
9 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2
10 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2
11 Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT01097044 Phase 2
12 Panhematin for Prevention of Acute Attacks of Porphyria Panhematin for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
13 Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria Recruiting NCT02180412 Phase 2
14 Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea Tarda Recruiting NCT01573754 Phase 2
15 A Study to Evaluate Long-term Safety and Clinical Activity of ALN-AS1 in Patient With Acute Intermittent Porphyria (AIP) Enrolling by invitation NCT02949830 Phase 1, Phase 2
16 Harvoni Treatment Porphyria Cutanea Tarda Not yet recruiting NCT03118674 Phase 2
17 Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
18 Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of Porphyria Completed NCT00004398 Phase 1
19 Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of Porphyria Completed NCT00004397 Phase 1
20 Hemin in Healthy Subjects Completed NCT00882804 Phase 1
21 Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine Hydrochloride Completed NCT02943213 Phase 1
22 A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP) Recruiting NCT02452372 Phase 1
23 Studies in Porphyria I: Characterization of Enzyme Defects Unknown status NCT00004331
24 Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria Unknown status NCT00206869
25 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
26 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
27 Study of Nutritional Factors in Porphyria Completed NCT00004788
28 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330
29 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
30 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
31 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831
32 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
33 Longitudinal Study of the Porphyrias Recruiting NCT01561157
34 Clinical Diagnosis of Acute Porphyria Recruiting NCT01568554
35 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Recruiting NCT01688895
36 Oral Iron for Erythropoietic Protoporphyrias Recruiting NCT02979249
37 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)) Active, not recruiting NCT01880983
38 Acute Porphyria Biomarkers Enrolling by invitation NCT02935400
39 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Not yet recruiting NCT01617642
40 Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria Terminated NCT01550705

Search NIH Clinical Center for Porphyria

Cochrane evidence based reviews: porphyrias

Genetic Tests for Porphyria

Genetic tests related to Porphyria:

id Genetic test Affiliating Genes
1 Porphyria 29

Anatomical Context for Porphyria

MalaCards organs/tissues related to Porphyria:

39
Skin, Liver, Bone, Bone Marrow, Testes, Kidney, Brain

Publications for Porphyria

Articles related to Porphyria:

(show top 50) (show all 2115)
id Title Authors Year
1
Porphyria Cutanea Tarda in a Patient with End-Stage Renal Disease: A Case of Successful Treatment with Deferoxamine and Ferric Carboxymaltose. ( 28210512 )
2017
2
Direct-acting antivirals for hepatitis C virus induce a rapid clinical and biochemical remission of porphyria cutanea tarda. ( 28369802 )
2017
3
Porphyria cutanea tarda: an intriguing genetic disease and marker. ( 28321838 )
2017
4
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
5
Porphyria Cutanea Tarda as the Initial Manifestation of Subclinical Hereditary Hemochromatosis. ( 28479501 )
2017
6
Anti-HCV for porphyria cutanea tarda. ( 28133909 )
2017
7
Porphyria cutanea tardaA in a patient with hepatitis C. ( 28416230 )
2017
8
sQuiz your knowledge: Expanding scarring alopecia in a patient with porphyria cutanea tarda. ( 28400347 )
2017
9
Squamous cell carcinoma of the penis successfully treated with imiquimod 5% cream in a porphyria cutanea tarda patient. ( 27767238 )
2016
10
Human immunodeficiency virus and risk of porphyria cutanea tarda: a possible association examined in a large hospital. ( 26576928 )
2016
11
Can curative antivirals benefit porphyria cutanea tarda in hepatitis C patients? ( 27550066 )
2016
12
Radiopharmaceuticals in Acute Porphyria. ( 27568214 )
2016
13
Human Immunodeficiency Virus Associated Sporadic Nonfamilial Porphyria Cutanea Tarda. ( 27293254 )
2016
14
Illness Perception and Psychological Distress in Persons with Porphyria Cutanea Tarda. ( 26775575 )
2016
15
Phase I Open Label Liver-Directed Gene Therapy Clinical Trial for Acute Intermittent Porphyria. ( 27212246 )
2016
16
A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report. ( 27891417 )
2016
17
Hepatic porphyria: A narrative review. ( 27796941 )
2016
18
Porphyria and Vampirism-A Myth, Sensationalized. ( 27627037 )
2016
19
Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study. ( 27595545 )
2016
20
Acute Intermittent Porphyria: A Diagnostic Challenge. ( 27617074 )
2016
21
A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease. ( 28031405 )
2016
22
Advances in understanding the pathogenesis of congenital erythropoietic porphyria. ( 26969896 )
2016
23
A Rare Case of Puberty Onset Congenital Erythropoietic Porphyria with Ophthalmological Manifestations. ( 26957860 )
2016
24
What hematologists need to know about acute hepatic porphyria. ( 27930636 )
2016
25
Acute intermittent porphyria precipitated by atazanavir/ritonavir. ( 26872826 )
2016
26
Porphyria or Catatonia: Diagnostic Dilemma on the Medical Wards. ( 27027143 )
2016
27
Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients. ( 27788171 )
2016
28
Haplotype Study in Argentinean Variegate Porphyria Patients. ( 27216491 )
2016
29
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6. ( 27507172 )
2016
30
Methotrexate and actinomycin D chemotherapy in a patient with porphyria: a case report. ( 26781485 )
2016
31
Acute variegate porphyria presenting with reversible cerebral vasoconstriction. ( 27186968 )
2016
32
Porphyria cutanea tarda associated with HFE C282Y homozygosity, iron overload, and use of a contraceptive vaginal ring. ( 26908385 )
2016
33
Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria. ( 27627571 )
2016
34
Emerging therapies for acute intermittent porphyria. ( 27804912 )
2016
35
Acute intermittent porphyria-related leukoencephalopathy. ( 27558376 )
2016
36
Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome and lateralized periodic discharges plus fast activity on EEG. ( 27660746 )
2016
37
Acute Intermittent Porphyria in children: A case report and review of the literature. ( 27769855 )
2016
38
Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center. ( 28025645 )
2016
39
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. ( 27539938 )
2016
40
Elective cholecystectomy performed on patient with variegate porphyria-Propofol-based total intravenous anesthesia with target-controlled infusion. ( 27871506 )
2016
41
Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence. ( 27859603 )
2016
42
Porphyria Cutanea Tarda. ( 27669078 )
2016
43
Acute intermittent porphyria: A critical diagnosis for favorable outcome. ( 27555700 )
2016
44
Severe porphyric neuropathy--importance of screening for porphyria in Guillain-BarrAc syndrome. ( 26792303 )
2016
45
ANNALS EXPRESS: Best practice guidelines on first line laboratory testing for porphyria. ( 27555665 )
2016
46
Takotsubo syndrome triggered by acute intermittent porphyria attack: An unusual stressor for catecholamine-induced cardiomyopathy. ( 26788817 )
2016
47
A Comprehensive Rehabilitation Program and Follow-up Assessment for Acute Intermittent Porphyria. ( 27584135 )
2016
48
Systemic inflammation in acute intermittent porphyria: a case-control study. ( 27859020 )
2016
49
Safe use of perampanel in a carrier of variegate porphyria. ( 26837372 )
2016
50
Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient. ( 27746433 )
2016

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:

id 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)
id 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 tetrapyrrole biosynthetic process GO:0033014 9.65 ALAD ALAS1 ALAS2 HMBS UROS
5 response to iron ion GO:0010039 9.63 ALAD CPOX HFE
6 erythrocyte differentiation GO:0030218 9.61 ALAS2 GATA1
7 response to lead ion GO:0010288 9.61 ALAD CPOX FECH
8 iron ion homeostasis GO:0055072 9.6 HFE TF
9 biosynthetic process GO:0009058 9.59 ALAS1 ALAS2
10 transferrin transport GO:0033572 9.58 HFE TF
11 positive regulation of receptor-mediated endocytosis GO:0048260 9.58 HFE TF
12 response to arsenic-containing substance GO:0046685 9.58 ALAD CPOX FECH
13 response to metal ion GO:0010038 9.57 ALAD FECH
14 response to inorganic substance GO:0010035 9.56 ALAD CPOX
15 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 ALAD ALAS1 ALAS2 CPOX HMBS PPOX
16 cellular response to iron ion GO:0071281 9.54 HFE TF
17 response to methylmercury GO:0051597 9.54 ALAD CPOX FECH
18 response to insecticide GO:0017085 9.51 CPOX FECH
19 porphyrin-containing compound metabolic process GO:0006778 9.5 ALAS1 ALAS2 CYP1A2
20 protoporphyrinogen IX metabolic process GO:0046501 9.49 FECH PPOX
21 response to platinum ion GO:0070541 9.48 ALAD FECH
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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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