MCID: ACT078
MIFTS: 50

Acute Porphyria

Categories: Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Acute Porphyria

MalaCards integrated aliases for Acute Porphyria:

Name: Acute Porphyria 12 29 6 15
Porphyrias, Hepatic 44 70
Hepatic Porphyria 12 36
Acute Intermittent Porphyria 70
Porphyria Hepatic 54

Classifications:



External Ids:

Disease Ontology 12 DOID:3133
KEGG 36 H00202
MeSH 44 D017094
SNOMED-CT 67 55056006
UMLS 70 C0162533 C0162565

Summaries for Acute Porphyria

KEGG : 36 Hepatic porphyrias are diseases due to marked deficiencies of enzymes in the heme biosynthetic pathway. Clinical manifestations in porphyria are neurovisceral or cutaneous as well as hematic or hepatic.

MalaCards based summary : Acute Porphyria, also known as porphyrias, hepatic, is related to porphyria and porphyria cutanea tarda, 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 Chelating Agents have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and kidney, and related phenotypes are Decreased viability and Decreased viability

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

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 137)
# Related Disease Score Top Affiliating Genes
1 porphyria 30.4 UROS UROD PPOX HMOX1 HMBS HFE
2 porphyria cutanea tarda 30.0 UROS UROD PPOX HMBS HFE FECH
3 familial porphyria cutanea tarda 29.9 UROD HFE
4 siderosis 29.6 UROD HMOX1 HFE
5 porphyria, acute intermittent 29.4 UROS UROD PPOX HMOX1 HMBS FECH
6 coproporphyria, hereditary 29.1 UROS UROD PPOX HMBS FECH CPOX
7 protoporphyria, erythropoietic, 1 29.0 UROS UROD SLC25A37 PPOX IREB2 HMOX1
8 variegate porphyria 28.9 UROS UROD PPOX HMBS HFE FECH
9 hemochromatosis, type 1 28.3 UROD SLC25A37 IREB2 HMOX1 HFE FECH
10 cutaneous porphyria 27.5 UROS UROD SLC25A37 PPOX HMBS HFE
11 chronic hepatic porphyria 11.3
12 chester porphyria 11.1
13 harderoporphyria 11.1
14 erythrasma 10.3 PPOX CPOX
15 scleromalacia perforans 10.3 UROD CPOX
16 x-linked protoporphyria 10.2 FECH ALAS2
17 photoparoxysmal response 1 10.2 UROD PPOX FECH
18 liver benign neoplasm 10.2 NR1I3 NR1I2 GLUL
19 colonic pseudo-obstruction 10.2 MLN HMBS
20 neuropathy 10.2
21 crigler-najjar syndrome, type i 10.2 NR1I3 NR1I2 HNF4A
22 peripheral nervous system disease 10.1
23 cholestasis 10.1
24 neuropathy, hereditary sensory and autonomic, type viii 10.1 HMOX1 ALAS1
25 porphyria cutanea tarda, type i 10.1 UROD HFE
26 spastic paraplegia 38, autosomal dominant 10.1 IREB2 FECH
27 polyneuropathy 10.1
28 bile acid synthesis defect, congenital, 2 10.1 NR1I3 NR1I2
29 postgastrectomy syndrome 10.1 NTS MLN
30 guillain-barre syndrome 10.0
31 status epilepticus 10.0
32 cicatricial ectropion 10.0 UROS UROD
33 duodenogastric reflux 10.0 NTS MLN
34 hepatocellular carcinoma 10.0
35 focal epilepsy 10.0
36 liver cirrhosis 10.0
37 ocular motor apraxia 9.9
38 porphyria, acute hepatic 9.9
39 ectopic pregnancy 9.9
40 constipation 9.9
41 schizoaffective disorder 9.9
42 subacute delirium 9.9
43 tyrosinemia 9.9
44 encephalopathy 9.9
45 inherited metabolic disorder 9.9 PPARGC1A HFE FECH
46 functional gastric disease 9.9 NTS MLN
47 pfeiffer syndrome 9.8
48 alcohol dependence 9.8
49 antipyrine metabolism 9.8
50 darier-white disease 9.8

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; dysuria; diarrhea; nausea; weakness

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.17 NR1I2 NR1I3
2 Decreased viability GR00221-A-2 10.17 NR1I2 NR1I3
3 Decreased viability GR00249-S 10.17 ALAS1 ALAS2 GLUL HMBS MLN NR1I3
4 Decreased viability GR00301-A 10.17 NR1I2 NR1I3
5 Decreased viability GR00381-A-1 10.17 HMBS MLN PPOX SLC25A37 UROD UROS
6 Decreased viability GR00381-A-3 10.17 MLN
7 Decreased viability GR00386-A-1 10.17 ALAD FECH HMBS HNF4A IREB2 MLN
8 Decreased viability GR00402-S-2 10.17 ALAD MLN SLC25A37
9 Increased the percentage of infected cells GR00402-S-1 8.32 IREB2

MGI Mouse Phenotypes related to Acute Porphyria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.21 ALAD ALAS2 CPOX FECH GLUL HFE
2 growth/size/body region MP:0005378 10.18 ALAS1 CPOX FECH GLUL HFE HMBS
3 hematopoietic system MP:0005397 10.06 ALAD ALAS2 CPOX FECH HFE HMBS
4 liver/biliary system MP:0005370 9.97 FECH GLUL HFE HMBS HMOX1 HNF4A
5 mortality/aging MP:0010768 9.91 ALAD ALAS1 ALAS2 CPOX FECH GLUL
6 renal/urinary system MP:0005367 9.17 HMBS HMOX1 HNF4A IREB2 PPARGC1A PPOX

Drugs & Therapeutics for Acute Porphyria

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

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 3 201530-41-8 5493381 214348
2 Chelating Agents Phase 3
3 Iron Chelating Agents Phase 3
4
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
5
Ledipasvir Approved Phase 2 1256388-51-8 67505836
6
Iron Approved Phase 2 7439-89-6 23925 29936
7
Hydroxychloroquine Approved Phase 2 118-42-3 3652
8 Tin mesoporphyrin Phase 1, Phase 2
9 Antiviral Agents Phase 2
10 Ledipasvir, sofosbuvir drug combination Phase 2
11 Anti-Infective Agents Phase 2
12 Antimalarials Phase 2
13 Antirheumatic Agents Phase 2
14 Antiparasitic Agents Phase 2
15 Antiprotozoal Agents Phase 2
16
Midazolam Approved, Illicit Phase 1 59467-70-8 4192
17
Omeprazole Approved, Investigational, Vet_approved Phase 1 73590-58-6 4594
18
Dextromethorphan Approved Phase 1 125-71-3 5360696 5362449
19
Caffeine Approved Phase 1 58-08-2 2519
20
Losartan Approved Phase 1 114798-26-4 3961
21 Liver Extracts Phase 1
22
Aminolevulinic acid Approved 106-60-5 137

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 A Multi-centre, Double-blind, Randomized, Placebo-controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Porphozym (Recombinant Human Porphobilinogen Deaminase) in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2, Phase 3 recombinant human porphobilinogen deaminase (Porphozym)
2 Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda Completed NCT00599326 Phase 3 Deferasirox
3 ENVISION: A Phase 3 Randomized, Double-blind, Placebo-Controlled Multicenter Study With an Open-label Extension to Evaluate the Efficacy and Safety of Givosiran in Patients With Acute Hepatic Porphyrias Active, not recruiting NCT03338816 Phase 3 Givosiran;Placebo
4 A Phase II, Open Label Clinical Trial Exploring the Safety and the Efficacy of Oral Deferasirox in Patients Newly Diagnosed With Porphyria Cutanea Tarda (PCT) and Non-transfusion Iron Overload Unknown status NCT01284946 Phase 2 Exjade
5 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
6 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
7 Safety and Efficacy of Panhematin™ for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
8 Newer Direct-Acting Anti-Viral Agents as Sole Therapy of Porphyria Cutanea Tarda in Subjects With Chronic Hepatitis C Recruiting NCT03118674 Phase 2 Harvoni
9 A Multicenter, Open-label Extension Study to Evaluate the Long-term Safety and Clinical Activity of Subcutaneously Administered ALN-AS1 in Patients With Acute Intermittent Porphyria Who Have Completed a Previous Clinical Study With ALN-AS1 Active, not recruiting NCT02949830 Phase 1, Phase 2 givosiran (ALN-AS1)
10 A Prospective Comparison of Low Dose Hydroxychloroquine and Phlebotomy in the Treatment of Porphyria Cutanea Tarda. IRB 02-435 Active, not recruiting NCT01573754 Phase 2 Hydroxychloroquine
11 A Double-blind, Randomized, Placebo-controlled, Parallel Group Trial on the Efficacy and Safety of PanhematinTM in the Treatment of Acute Attacks of Porphyria Active, not recruiting NCT02180412 Phase 2
12 A Drug-Drug Interaction Study to Investigate the Effect of Givosiran on the Pharmacokinetics (PK) of Midazolam, Caffeine, Losartan, Omeprazole, and Dextromethorphan in Patients With Acute Intermittent Porphyria (AIP) Who Are Asymptomatic High Excreters (ASHE) Completed NCT03505853 Phase 1 Givosiran;5-probe cocktail
13 A Phase 1, Single-ascending Dose, Multiple-ascending Dose, and Multi-dose Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of Subcutaneously Administered ALN AS1 in Patients With Acute Intermittent Porphyria (AIP) Completed NCT02452372 Phase 1 givosiran (ALN-AS1);Sterile Normal Saline (0.9% NaCl)
14 Phase I, Multicentre, Open Label, Single Dose, Dose-ranging Clinical Trial to Investigate the Safety and Tolerability of a Gene Therapy rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
15 Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria (AHP) Approved for marketing NCT04056481 Givosiran
16 Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria Completed NCT03906214
17 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
18 "Factors Associated With Porphyria Cutanea Tarda in Patients Infected With Hepatitis C Virus" Completed NCT00213772
19 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
20 Clinical Diagnosis of Acute Porphyria Completed NCT01568554
21 Longitudinal Study of the Porphyrias Recruiting NCT01561157
22 Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment Active, not recruiting NCT02935400 Hemin
23 A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks Active, not recruiting NCT02240784
24 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Active, not recruiting NCT01617642
25 INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP Terminated NCT03547297

Search NIH Clinical Center for Acute Porphyria

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Chlorpromazine
Chlorpromazine hydrochloride
Hemin

Cochrane evidence based reviews: porphyrias, hepatic

Genetic Tests for Acute Porphyria

Genetic tests related to Acute Porphyria:

# Genetic test Affiliating Genes
1 Acute Porphyria 29

Anatomical Context for Acute Porphyria

MalaCards organs/tissues related to Acute Porphyria:

40
Liver, Brain, Kidney, Bone Marrow, Bone, Globus Pallidus, Pineal

Publications for Acute Porphyria

Articles related to Acute Porphyria:

(show top 50) (show all 688)
# Title Authors PMID Year
1
Response of glucose metabolism enzymes in an acute porphyria model. Role of reactive oxygen species. 61 54
16125296 2005
2
Recovery from a variegate porphyria by a liver transplantation. 61 54
15237381 2004
3
Novel treatment options for acute hepatic porphyrias. 61
33769375 2021
4
Acute porphyria presenting as abdominal pain in pregnancy. 61
33753365 2021
5
Case report of a complicated neurologically manifesting acute porphyria treated successfully with Givosiran. 61
33581419 2021
6
High Prevalence of Insulin Resistance in Asymptomatic Patients with Acute Intermittent Porphyria and Liver-Targeted Insulin as a Novel Therapeutic Approach. 61
33807619 2021
7
Premedication of hemin for eradication therapy of Helicobacter pylori in patients with porphyria. 61
33598277 2021
8
Givosiran to treat acute porphyria. 61
33594389 2021
9
Challenges in the management of acute intermittent porphyria with recurrent attacks during pregnancy: A case report. 61
33363763 2020
10
Combined Liver and Kidney Transplant in Acute Intermittent Porphyria: A Case Report. 61
33203827 2020
11
Liver transplantation for intermittent acute porphyria resistant to medical treatment. 61
33019962 2020
12
Management of hyponatremia associated with acute porphyria-proposal for the use of tolvaptan. 61
33145317 2020
13
Kidney transplantation improves the clinical outcomes of Acute Intermittent Porphyria. 61
32893121 2020
14
Acute Neurological Manifestations of Porphyrias and its Types: A Systematic-Review. 61
32914723 2020
15
Pregnancy Outcomes in Women With Acute Porphyria: A Systematic Literature Review [35G]: Correction. 61
32590716 2020
16
Real-world annualized healthcare utilization and expenditures among insured US patients with acute intermittent porphyria (AIP) treated with hemin. 61
31999204 2020
17
Penetrance and predictive value of genetic screening in acute porphyria. 61
32067921 2020
18
Protocol For Patients With Suspected Acute Porphyria. 61
32143835 2020
19
Givosiran: First Approval. 61
32034693 2020
20
An unorthodox pathophysiology of severe cases of COVID-19 the weak heme hypothesis. 61
33489438 2020
21
[Posterior reversible encephalopathy syndrome as a presentation of acute intermittent porphyria]. 61
32323945 2020
22
Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria. 61
30639047 2019
23
Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias. 61
31153822 2019
24
Acute hepatic porphyrias: Current diagnosis & management. 61
31311713 2019
25
Reversible encephalopathy syndrome in acute porphyria attack. 61
30871823 2019
26
Axonal Polyneuropathy in a Man Treated for Pulmonary Cocci: A Case of Acute Intermittent Porphyria. 61
31530795 2019
27
Porphyria Attack Manifesting as Delayed Emergence and Precipitated by Prolonged Cardiopulmonary Bypass: A Case Report of 2 Novel Observations. 61
30312175 2019
28
[Acute abdominal pain caused by lead poisoning]. 61
30864538 2019
29
[The cutaneous porphyrias]. 61
30709634 2019
30
Nonconvulsive status epilepticus secondary to acute porphyria crisis. 61
30671344 2019
31
Desensitization in patients with hypersensitivity to haem arginate: A case report. 61
30937127 2019
32
[Porphyrias-what is verified?] 61
30328490 2018
33
Psychiatric Disorders Secondary to Neurometabolic Disorders. 61
30286847 2018
34
Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis. 61
29516370 2018
35
A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp). 61
29660996 2018
36
Many pitfalls in diagnosis of acute intermittent porphyria: a case report. 61
30071891 2018
37
Rapid spectrophotometric quantification of urinary porphyrins and porphobilinogen as screening tool for attacks of acute porphyria. 61
29855177 2018
38
An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria. 61
28990424 2018
39
Psychiatric Aspects of Acute Porphyria: a Comprehensive Review. 61
29392446 2018
40
Cerebral vasospasm in acute porphyria. 61
28695690 2017
41
Best practice guidelines on first-line laboratory testing for porphyria. 61
27555665 2017
42
Update review of the acute porphyrias. 61
27982422 2017
43
An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom. 61
28220410 2017
44
Lead Poisoning Can Be Easily Misdiagnosed as Acute Porphyria and Nonspecific Abdominal Pain. 61
28630774 2017
45
Targeting the Nrf2-Heme Oxygenase-1 Axis after Intracerebral Hemorrhage. 61
27799046 2017
46
Acute Porphyria Presenting as Major Trauma: Case Report and Literature Review. 61
27624508 2016
47
Hepatic porphyria: A narrative review. 61
27796941 2016
48
Radiopharmaceuticals in Acute Porphyria. 61
27568214 2016
49
[The attack of acute porphyria]. 61
27622758 2016
50
Melatonin modulates drug-induced acute porphyria. 61
28959532 2016

Variations for Acute Porphyria

ClinVar genetic disease variations for Acute Porphyria:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CPOX NM_000097.7(CPOX):c.814A>C (p.Asn272His) SNV not provided 346979 rs1131857 GRCh37: 3:98307696-98307696
GRCh38: 3:98588852-98588852
2 PPOX NM_001122764.3(PPOX):c.590T>C (p.Ile197Thr) SNV not provided 441069 rs1553238545 GRCh37: 1:161138340-161138340
GRCh38: 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:

36
# 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 mitochondrion GO:0005739 9.28 UROS SLC25A37 PPOX IREB2 GLUL FECH

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.88 PPOX PPARGC1A HMOX1 FECH ALAD
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.84 PPARGC1A NR1I3 NR1I2 HNF4A
3 response to hypoxia GO:0001666 9.83 PPARGC1A HMOX1 ALAS2 ALAS1 ALAD
4 cellular iron ion homeostasis GO:0006879 9.71 IREB2 HMOX1 HFE ALAS2
5 porphyrin-containing compound biosynthetic process GO:0006779 9.7 UROS UROD PPOX HMBS FECH CPOX
6 intracellular receptor signaling pathway GO:0030522 9.69 NR1I3 NR1I2 HNF4A
7 iron ion homeostasis GO:0055072 9.67 SLC25A37 IREB2 HMOX1 HFE
8 tetrapyrrole biosynthetic process GO:0033014 9.65 UROS HMBS ALAS2 ALAS1 ALAD
9 response to lead ion GO:0010288 9.61 FECH ALAD
10 erythrocyte development GO:0048821 9.61 ALAS2 ALAS1
11 heme biosynthetic process GO:0006783 9.61 UROS UROD PPOX HMBS FECH CPOX
12 response to metal ion GO:0010038 9.6 FECH ALAD
13 response to iron ion GO:0010039 9.59 HFE ALAD
14 response to arsenic-containing substance GO:0046685 9.58 FECH ALAD
15 erythrocyte homeostasis GO:0034101 9.58 IREB2 HMOX1
16 cellular response to arsenic-containing substance GO:0071243 9.57 UROS HMOX1
17 response to methylmercury GO:0051597 9.56 FECH ALAD
18 hemoglobin biosynthetic process GO:0042541 9.55 ALAS2 ALAS1
19 porphyrin-containing compound metabolic process GO:0006778 9.52 ALAS2 ALAS1
20 response to platinum ion GO:0070541 9.5 UROS FECH ALAD
21 heme metabolic process GO:0042168 9.49 UROD HMOX1
22 protoporphyrinogen IX metabolic process GO:0046501 9.46 PPOX FECH
23 protoporphyrinogen IX biosynthetic process GO:0006782 9.28 UROS UROD PPOX IREB2 HMBS CPOX

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

# Name GO ID Score Top Affiliating Genes
1 nuclear receptor activity GO:0004879 9.33 NR1I3 NR1I2 HNF4A
2 nuclear receptor binding GO:0016922 9.26 PPARGC1A NR1I2
3 lyase activity GO:0016829 9.26 UROS UROD FECH ALAD
4 5-aminolevulinate synthase activity GO:0003870 8.62 ALAS2 ALAS1

Sources for Acute Porphyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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