MCID: ACT078
MIFTS: 49

Acute Porphyria

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Acute Porphyria

MalaCards integrated aliases for Acute Porphyria:

Name: Acute Porphyria 12 6 15
Porphyrias, Hepatic 45 74
Hepatic Porphyria 12 38
Acute Intermittent Porphyria 74

Classifications:



External Ids:

Disease Ontology 12 DOID:3133
KEGG 38 H00202
MeSH 45 D017094
SNOMED-CT 69 55056006

Summaries for Acute Porphyria

Disease Ontology : 12 A porphyria that has symptom abdominal pain, has symptom neuropathy, has symptom autonomic instability and has symptom psychosis.

MalaCards based summary : Acute Porphyria, also known as porphyrias, hepatic, is related to protoporphyria, erythropoietic, 1 and porphyria, acute intermittent, and has symptoms including abdominal pain, psychosis and neuropathy. An important gene associated with Acute 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, testes and bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Acute Porphyria

Diseases in the Porphyria family:

Acute Porphyria

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 protoporphyria, erythropoietic, 1 30.5 ALAD ALAS2 CPOX FECH HMBS PPOX
2 porphyria, acute intermittent 30.4 ALAD ALAS1 CPOX FECH HMBS PPOX
3 porphyria variegata 30.3 ALAD CPOX FECH HFE HMBS PPOX
4 porphyria cutanea tarda 30.0 ALAD ALAS1 CPOX FECH HFE HMBS
5 porphyria 29.9 ALAD ALAS1 ALAS2 CPOX FECH HFE
6 coproporphyria, hereditary 29.4 ALAD ALAS1 ALAS2 CPOX FECH HMBS
7 chester porphyria 11.6
8 hepatitis 10.1
9 neuropathy 10.0
10 hepatocellular carcinoma 10.0
11 x-linked protoporphyria 10.0 ALAS2 FECH
12 porphyria cutanea tarda, type i 10.0 HFE UROD
13 porphyria, acute hepatic 10.0
14 peripheral nervous system disease 10.0
15 familial porphyria cutanea tarda 10.0 HFE UROD
16 epilepsy 9.9
17 hepatitis c 9.9
18 focal epilepsy 9.9
19 hyperphenylalaninemia due to dehydratase deficiency 9.9
20 encephalopathy 9.9
21 siderosis 9.9 HFE UROD
22 rhizomelic chondrodysplasia punctata, type 2 9.8 HFE UROD
23 hemochromatosis type 2 9.8 ALAS2 HFE
24 antipyrine metabolism 9.8
25 breast cancer 9.8
26 systemic lupus erythematosus 9.8
27 hepatitis c virus 9.8
28 liver disease 9.8
29 typhoidal tularemia 9.8
30 tularemia 9.8
31 lupus erythematosus 9.8
32 lichen planus 9.8
33 benign childhood occipital epilepsy, panayiotopoulos type 9.8
34 chiari malformation type ii 9.7
35 myocardial infarction 9.7
36 acute myocardial infarction 9.7
37 brucellosis 9.7
38 cerebral atherosclerosis 9.7
39 guillain-barre syndrome 9.7
40 polyneuropathy 9.7
41 pericarditis 9.7
42 status epilepticus 9.7
43 constipation 9.7
44 schizoaffective disorder 9.7
45 myocarditis 9.7
46 appendicitis 9.7
47 binswanger's disease 9.7
48 chiari malformation 9.7
49 pyridoxine deficiency 9.7
50 atransferrinemia 9.6 ALAS2 HFE

Graphical network of the top 20 diseases related to Acute Porphyria:



Diseases related to Acute Porphyria

Symptoms & Phenotypes for Acute Porphyria

Symptoms:

12
  • abdominal pain
  • psychosis
  • neuropathy
  • autonomic instability

UMLS symptoms related to Acute Porphyria:


seizures, constipation, vomiting, abdominal pain, diarrhea, dysuria, nausea, weakness

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

27 (show all 17)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.6 NR1I2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.6 NR1I2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-135 9.6 NR1H2 NR1I2 NR3C1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-140 9.6 NR1I2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.6 NR3C1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.6 NR1I2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-172 9.6 NR1I2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.6 NR1I2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.6 NR1H2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.6 NR3C1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.6 NR3C1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.6 NR1H2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-46 9.6 NR1H2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.6 NR3C1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.6 NR1H2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.6 NR1H2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-90 9.6 NR1I2

MGI Mouse Phenotypes related to Acute Porphyria:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.9 ALAS2 CPOX FECH HFE HMBS NR1H2
2 liver/biliary system MP:0005370 9.5 FECH HFE NR1H2 NR1I2 NR3C1 UROD
3 mortality/aging MP:0010768 9.44 ALAS1 ALAS2 CPOX FECH HFE HMBS

Drugs & Therapeutics for Acute Porphyria

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

(show top 50) (show all 79)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 3,Phase 2 201530-41-8 5493381
2
Iron Approved, Experimental Phase 3,Phase 2,Not Applicable 7439-89-6, 15438-31-0 23925 27284
3
Colestipol Approved Phase 2, Phase 3 26658-42-4
4
Afamelanotide Experimental, Investigational Phase 3,Phase 2 75921-69-6
5 Hormones Phase 3,Phase 2,Not Applicable
6 alpha-MSH Phase 3,Phase 2 581-05-5
7 Hormone Antagonists Phase 3,Phase 2,Not Applicable
8 Dermatologic Agents Phase 3,Phase 2,Not Applicable
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Not Applicable
10 Chelating Agents Phase 3,Phase 2
11 Iron Chelating Agents Phase 3,Phase 2
12 cysteine Phase 3,Not Applicable
13 Antimetabolites Phase 2, Phase 3,Not Applicable
14 Hypolipidemic Agents Phase 2, Phase 3,Not Applicable
15 Lipid Regulating Agents Phase 2, Phase 3,Not Applicable
16
Hydroxychloroquine Approved Phase 2 118-42-3 3652
17
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
18
Ledipasvir Approved Phase 2 1256388-51-8 67505836
19
Tin Phase 1, Phase 2,Phase 2 7440-31-5
20 Tin mesoporphyrin Phase 1, Phase 2,Phase 2
21 Antiprotozoal Agents Phase 2
22 Antirheumatic Agents Phase 2
23 Antiparasitic Agents Phase 2
24 Anti-Infective Agents Phase 2,Not Applicable
25 Antimalarials Phase 2
26 Antiviral Agents Phase 2
27 Ledipasvir, sofosbuvir drug combination Phase 2
28
Dextromethorphan Approved Phase 1 125-71-3 5362449 5360696
29
Caffeine Approved Phase 1 58-08-2 2519
30
Guaifenesin Approved, Investigational, Vet_approved Phase 1 93-14-1 3516
31
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
32
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
33
Losartan Approved Phase 1 114798-26-4 3961
34
Chlorpromazine Approved, Investigational, Vet_approved Phase 1 50-53-3 2726
35
Dopamine Approved Phase 1 62-31-7, 51-61-6 681
36
Tocopherol Approved, Investigational Phase 1 1406-66-2 14986
37
Pentoxifylline Approved, Investigational Phase 1 6493-05-6 4740
38
Vitamin E Approved, Nutraceutical, Vet_approved Phase 1 59-02-9 14985
39 Tocotrienol Investigational Phase 1 6829-55-6
40 Liver Extracts Phase 1
41 Respiratory System Agents Phase 1
42 Antitussive Agents Phase 1
43 Antacids Phase 1
44 Chlorpheniramine, phenylpropanolamine drug combination Phase 1
45 Gastrointestinal Agents Phase 1
46 Proton Pump Inhibitors Phase 1
47 Excitatory Amino Acids Phase 1
48 Excitatory Amino Acid Antagonists Phase 1
49 Anti-Ulcer Agents Phase 1
50 Neurotransmitter Agents Phase 1

Interventional clinical trials:

(show all 44)
# Name Status NCT ID Phase Drugs
1 Phase III Confirmatory Study in Erythropoietic Protoporphyria Unknown status NCT01605136 Phase 3 Afamelanotide;Placebo
2 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2, Phase 3 recombinant human porphobilinogen deaminase (Porphozym)
3 Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda Completed NCT00599326 Phase 3 Deferasirox
4 Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT00979745 Phase 3 Afamelanotide;Placebo
5 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
6 Sorbent Therapy of the Cutaneous Porphyrias Completed NCT01422915 Phase 2, Phase 3 Colestipol
7 ENVISION: A Study to Evaluate the Efficacy and Safety of Givosiran (ALN-AS1) in Patients With Acute Hepatic Porphyrias (AHP) Active, not recruiting NCT03338816 Phase 3 Givosiran;Placebo
8 Heme Arginate in Cardiac Surgery Patients Unknown status NCT02142699 Phase 2 Heme arginate
9 Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea Tarda Unknown status NCT01284946 Phase 2 Exjade
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 Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria Recruiting NCT02180412 Phase 2
14 Panhematin for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 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 Study to Investigate the Interaction Between Givosiran and a 5-probe Drug Cocktail in Patients With Acute Intermittent Porphyria (AIP) Completed NCT03505853 Phase 1 Givosiran;5-probe cocktail
21 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)
22 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
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 PentoxIfylline and Tocopherol for the Treatment of Post-radiotherapy Fibrosis in Head and Neck Cancer Patients Not yet recruiting NCT03723291 Phase 1
26 Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria Unknown status NCT00206869 Not Applicable
27 Clinical Diagnosis of Acute Porphyria Completed NCT01568554
28 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
29 Study of Nutritional Factors in Porphyria Completed NCT00004788
30 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 Not Applicable luteinizing hormone-releasing factor
31 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
32 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
33 Light Exposure Patterns and Symptoms Among Patients With Erythropoietic Protoporphyria Completed NCT03682731
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 Longitudinal Study of the Porphyrias Recruiting NCT01561157
37 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
38 Oral Iron for Erythropoietic Protoporphyrias Recruiting NCT02979249 Not Applicable Oral Iron
39 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Active, not recruiting NCT01688895
40 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)) Active, not recruiting NCT01880983
41 Acute Porphyria Biomarkers for Disease Activity Enrolling by invitation NCT02935400 Hemin
42 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Not yet recruiting NCT01617642
43 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
44 Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria Terminated NCT01550705 Not Applicable Isoniazid

Search NIH Clinical Center for Acute Porphyria

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: porphyrias, hepatic

Genetic Tests for Acute Porphyria

Anatomical Context for Acute Porphyria

MalaCards organs/tissues related to Acute Porphyria:

42
Liver, Testes, Bone, Bone Marrow, Brain, Pineal, Globus Pallidus

Publications for Acute Porphyria

Articles related to Acute Porphyria:

(show top 50) (show all 270)
# Title Authors Year
1
Nonconvulsive status epilepticus secondary to acute porphyria crisis. ( 30671344 )
2019
2
Reversible encephalopathy syndrome in acute porphyria attack. ( 30871823 )
2019
3
Psychiatric Aspects of Acute Porphyria: a Comprehensive Review. ( 29392446 )
2018
4
Rapid spectrophotometric quantification of urinary porphyrins and porphobilinogen as screening tool for attacks of acute porphyria. ( 29855177 )
2018
5
Cerebral vasospasm in acute porphyria. ( 28695690 )
2017
6
An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom. ( 28220410 )
2017
7
Lead Poisoning Can Be Easily Misdiagnosed as Acute Porphyria and Nonspecific Abdominal Pain. ( 28630774 )
2017
8
Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center. ( 28025645 )
2016
9
Acute Porphyria Presenting as Major Trauma: Case Report and Literature Review. ( 27624508 )
2016
10
Melatonin modulates drug-induced acute porphyria. ( 28959532 )
2016
11
Radiopharmaceuticals in Acute Porphyria. ( 27568214 )
2016
12
Acute porphyria precipitated by efavirenz. ( 25909830 )
2015
13
Role of delta-aminolevulinic acid in the symptoms of acute porphyria. ( 25446301 )
2015
14
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms. ( 25762493 )
2015
15
Acute porphyria in a patient with Arnold Chiari malformation. ( 25697467 )
2015
16
Successful administration of sugammadex in a patient with acute porphyria: A case report. ( 24992602 )
2014
17
Lead poisoning mimicking acute porphyria! ( 25653942 )
2014
18
Alterations of the redox state, pentose pathway and glutathione metabolism in an acute porphyria model. Their impact on heme pathway. ( 23390166 )
2013
19
Acute porphyria presenting as epilepsia partialis continua. ( 23898283 )
2013
20
Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow-up. ( 22851509 )
2012
21
Sustained enzymatic correction by rAAV-mediated liver gene therapy protects against induced motor neuropathy in acute porphyria mice. ( 20877347 )
2011
22
How porphyrinogenic drugs modeling acute porphyria impair the hormonal status that regulates glucose metabolism. Their relevance in the onset of this disease. ( 21889565 )
2011
23
Schizoaffective disorder with missed diagnosis of acute porphyria: a case report and overview. ( 22454794 )
2011
24
A retrospective analysis of outcome of pregnancy in patients with acute porphyria. ( 20567908 )
2010
25
Evaluation of gonadotropin-releasing hormone agonist treatment for prevention of menstrual-related attacks in acute porphyria. ( 20021268 )
2010
26
Acute porphyria precipitated by nevirapine. ( 20940539 )
2010
27
Thomas Wakley, King George III and acute porphyria. ( 19966121 )
2009
28
Hepatic alteration of tryptophan metabolism in an acute porphyria model Its relation with gluconeogenic blockage. ( 17996218 )
2008
29
Nitric oxide and the clinical manifestations of acute porphyria. ( 19143888 )
2008
30
Identifying acute porphyria in patients with acute polyneuropathy or encephalopathy. ( 19002132 )
2008
31
Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria. ( 18221605 )
2007
32
Open-label study of hemin for acute porphyria: clinical practice implications. ( 16945618 )
2006
33
Immunosuppressive therapy for acute porphyria: safety and efficacy in a patient with bone marrow failure. ( 17064214 )
2006
34
Response of glucose metabolism enzymes in an acute porphyria model. Role of reactive oxygen species. ( 16125296 )
2005
35
ED presentation of acute porphyria. ( 15765337 )
2005
36
Clinical features predictive of a poor prognosis in acute porphyria. ( 15645362 )
2004
37
Olanzapine use in acute porphyria. ( 24937245 )
2003
38
A study of 24-hour ambulatory blood pressure monitoring in cases of intermittent acute porphyria with hypertension: special reference to safety and efficacy of angiotensin-converting enzyme inhibitor (enalapril) therapy. ( 12674196 )
2002
39
Treatment of acute porphyria. ( 11480131 )
2001
40
Lipoprotein abnormalities in patients with asymptomatic acute porphyria. ( 10727671 )
2000
41
Study of motor and sensory nerve conduction velocities, late responses (F-wave and H-reflex) and somatosensory evoked potential in latent phase of intermittent acute porphyria. ( 10746181 )
2000
42
A new approach for the treatment of acute porphyria. ( 10361901 )
1999
43
Acute porphyria: the cost of suspicion. ( 10625031 )
1999
44
Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. ( 10207164 )
1999
45
The effect of therapeutic drugs and other pharmacologic agents on activity of porphobilinogen deaminase, the enzyme that is deficient in intermittent acute porphyria. ( 10416826 )
1999
46
Acute porphyria following commencement of indinavir. ( 10203389 )
1999
47
Identification of acute porphyria: evaluation of a commercial screening test for urinary porphobilinogen. ( 9838985 )
1998
48
Acute porphyria: treatment with heme. ( 9516678 )
1998
49
Echocardiographic Changes in Cases of Intermittent Acute Porphyria. ( 11174947 )
1997
50
Metoclopramide and acute porphyria. ( 10213579 )
1997

Variations for Acute Porphyria

ClinVar genetic disease variations for Acute Porphyria:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CPOX NM_000097.5(CPOX): c.814A> C (p.Asn272His) single nucleotide variant Benign rs1131857 GRCh38 Chromosome 3, 98588852: 98588852
2 CPOX NM_000097.5(CPOX): c.814A> C (p.Asn272His) single nucleotide variant Benign rs1131857 GRCh37 Chromosome 3, 98307696: 98307696
3 PPOX NM_000309.4(PPOX): c.590T> C (p.Ile197Thr) single nucleotide variant not provided rs1553238545 GRCh37 Chromosome 1, 161138340: 161138340
4 PPOX NM_000309.4(PPOX): c.590T> C (p.Ile197Thr) single nucleotide variant not provided rs1553238545 GRCh38 Chromosome 1, 161168550: 161168550

Expression for Acute Porphyria

Search GEO for disease gene expression data for Acute Porphyria.

Pathways for Acute Porphyria

Pathways related to Acute Porphyria according to KEGG:

38
# Name Kegg Source Accession
1 Porphyrin and chlorophyll metabolism hsa00860

GO Terms for Acute Porphyria

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.35 ALAS1 ALAS2 FECH NR3C1 PC
2 mitochondrion GO:0005739 9.23 ALAS1 ALAS2 CPOX FECH NR3C1 PC

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 heme biosynthetic process GO:0006783 9.81 ALAD ALAS1 ALAS2 CPOX FECH HMBS
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.7 NR1H2 NR1I2 NR3C1
3 tetrapyrrole biosynthetic process GO:0033014 9.65 ALAD ALAS1 ALAS2 HMBS UROS
4 biosynthetic process GO:0009058 9.56 ALAS1 ALAS2
5 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 ALAD ALAS1 ALAS2 CPOX HMBS PPOX
6 cellular response to dexamethasone stimulus GO:0071549 9.54 FECH NR3C1
7 response to lead ion GO:0010288 9.51 ALAD FECH
8 response to platinum ion GO:0070541 9.5 ALAD FECH UROS
9 response to metal ion GO:0010038 9.49 ALAD FECH
10 response to iron ion GO:0010039 9.48 ALAD HFE
11 response to arsenic-containing substance GO:0046685 9.46 ALAD FECH
12 response to methylmercury GO:0051597 9.43 ALAD FECH
13 porphyrin-containing compound metabolic process GO:0006778 9.4 ALAS1 ALAS2
14 protoporphyrinogen IX metabolic process GO:0046501 9.37 FECH PPOX
15 transcription, DNA-templated GO:0006351 9.25 NR3C1
16 porphyrin-containing compound biosynthetic process GO:0006779 9.17 ALAD CPOX FECH HMBS PPOX UROD

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

# Name GO ID Score Top Affiliating Genes
1 steroid hormone receptor activity GO:0003707 9.43 NR1H2 NR1I2 NR3C1
2 nuclear receptor activity GO:0004879 9.33 NR1H2 NR1I2 NR3C1
3 lyase activity GO:0016829 9.26 ALAD FECH UROD UROS
4 5-aminolevulinate synthase activity GO:0003870 8.62 ALAS1 ALAS2

Sources for Acute Porphyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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