MCID: ACT078
MIFTS: 47

Acute Porphyria

Categories: Metabolic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Acute Porphyria

MalaCards integrated aliases for Acute Porphyria:

Name: Acute Porphyria 12 6 15
Porphyrias, Hepatic 44 73
Hepatic Porphyria 12 37
Acute Intermittent Porphyria 73

Classifications:



External Ids:

Disease Ontology 12 DOID:3133
MeSH 44 D017094
SNOMED-CT 68 55056006
KEGG 37 H00202
UMLS 73 C0162533

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 and porphyria, and has symptoms including abdominal pain, neuropathy and autonomic instability. 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 Tin and Tin mesoporphyrin have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and bone, and related phenotypes are homeostasis/metabolism and mortality/aging

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 all 40)
# Related Disease Score Top Affiliating Genes
1 protoporphyria, erythropoietic 27.5 ALAD ALAS2 CPOX FECH HMBS PCBD1
2 porphyria 26.5 ALAD ALAS1 ALAS2 CPOX FECH HFE
3 porphyria cutanea tarda 26.1 ALAD ALAS1 CPOX FECH HFE HMBS
4 coproporphyria, hereditary 25.8 ALAD ALAS1 ALAS2 CPOX FECH HMBS
5 porphyria, acute intermittent 25.5 ALAD ALAS1 CPOX FECH HMBS PPOX
6 chester porphyria 11.5
7 x-linked protoporphyria 10.2 ALAS2 FECH
8 porphyria cutanea tarda, type i 10.0 HFE UROD
9 neuropathy 9.9
10 familial porphyria cutanea tarda 9.9 HFE UROD
11 siderosis 9.8 HFE UROD
12 porphyria, acute hepatic 9.8
13 peripheral nervous system disease 9.8
14 rhizomelic chondrodysplasia punctata, type 2 9.8 HFE UROD
15 inherited metabolic disorder 9.7 FECH HFE
16 hepatitis 9.7
17 cerebritis 9.7
18 hyperphenylalaninemia due to dehydratase deficiency 9.7
19 sideroblastic anemia 9.6 ALAS1 ALAS2
20 chiari malformation type ii 9.6
21 myocardial infarction 9.6
22 acute myocardial infarction 9.6
23 brucellosis 9.6
24 cerebral atherosclerosis 9.6
25 polyneuropathy 9.6
26 pericarditis 9.6
27 constipation 9.6
28 schizoaffective disorder 9.6
29 hyperthyroidism 9.6
30 myocarditis 9.6
31 meningitis 9.6
32 binswanger's disease 9.6
33 chiari malformation 9.6
34 pyridoxine deficiency 9.6
35 encephalopathy 9.6
36 atransferrinemia 9.6 ALAS2 HFE
37 cutaneous porphyria 9.2 FECH PCBD1 UROD UROS
38 anemia, sideroblastic, 1 8.4 ALAD ALAS1 ALAS2 FECH UROS
39 porphyria, congenital erythropoietic 8.1 ALAD CPOX FECH HMBS UROD UROS
40 porphyria variegata 7.0 ALAD CPOX FECH HFE HMBS PPOX

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
  • neuropathy
  • autonomic instability
  • psychosis

UMLS symptoms related to Acute Porphyria:


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

MGI Mouse Phenotypes related to Acute Porphyria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 ALAS2 FECH HFE HMBS PCBD1 PPOX
2 mortality/aging MP:0010768 9.28 ALAS1 ALAS2 FECH HFE HMBS PC

Drugs & Therapeutics for Acute Porphyria

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tin Phase 1, Phase 2,Phase 2 7440-31-5
2 Tin mesoporphyrin Phase 1, Phase 2,Phase 2
3
Chlorpromazine Approved, Investigational, Vet_approved Phase 1 50-53-3 2726
4
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
5 Liver Extracts Phase 1
6 Antiemetics Phase 1
7 Antipsychotic Agents Phase 1
8 Autonomic Agents Phase 1
9 Central Nervous System Depressants Phase 1
10 Dopamine Agents Phase 1
11 Dopamine Antagonists Phase 1
12 Gastrointestinal Agents Phase 1
13 Neurotransmitter Agents Phase 1
14 Peripheral Nervous System Agents Phase 1
15 Psychotropic Drugs Phase 1
16 Tranquilizing Agents Phase 1
17
Aminolevulinic acid Approved 106-60-5 137
18
Iron Approved 7439-89-6 23925
19 Hormone Antagonists Not Applicable
20 Hormones Not Applicable
21 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2, Phase 3 recombinant human porphobilinogen deaminase (Porphozym)
2 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
3 Heme Arginate in Cardiac Surgery Patients Unknown status NCT02142699 Phase 2 Heme arginate
4 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
5 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
6 Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria Recruiting NCT02180412 Phase 2
7 Panhematin for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
8 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)
9 Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
10 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)
11 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
12 Hemin in Healthy Subjects Completed NCT00882804 Phase 1 Hemin infusion;placebo infusion
13 Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine Hydrochloride Completed NCT02943213 Phase 1 Chlorpromazine Hydrochloride
14 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
15 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
16 Study of Nutritional Factors in Porphyria Completed NCT00004788
17 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 Not Applicable luteinizing hormone-releasing factor
18 Clinical Diagnosis of Acute Porphyria Recruiting NCT01568554
19 Longitudinal Study of the Porphyrias Recruiting NCT01561157
20 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
21 Acute Porphyria Biomarkers for Disease Activity Enrolling by invitation NCT02935400 Hemin
22 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Not yet recruiting NCT01617642

Search NIH Clinical Center for Acute Porphyria

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: porphyrias, hepatic

Genetic Tests for Acute Porphyria

Anatomical Context for Acute Porphyria

MalaCards organs/tissues related to Acute Porphyria:

41
Liver, Testes, Bone, Bone Marrow, Pineal, Globus Pallidus, Brain

Publications for Acute Porphyria

Articles related to Acute Porphyria:

(show top 50) (show all 272)
# Title Authors Year
1
Psychiatric Aspects of Acute Porphyria: a Comprehensive Review. ( 29392446 )
2018
2
Rapid spectrophotometric quantification of urinary porphyrins and porphobilinogen as screening tool for attacks of acute porphyria. ( 29855177 )
2018
3
Cerebral vasospasm in acute porphyria. ( 28695690 )
2017
4
An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom. ( 28220410 )
2017
5
Lead Poisoning Can Be Easily Misdiagnosed as Acute Porphyria and Nonspecific Abdominal Pain. ( 28630774 )
2017
6
Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center. ( 28025645 )
2016
7
Acute Porphyria Presenting as Major Trauma: Case Report and Literature Review. ( 27624508 )
2016
8
Melatonin modulates drug-induced acute porphyria. ( 28959532 )
2016
9
Radiopharmaceuticals in Acute Porphyria. ( 27568214 )
2016
10
Acute porphyria precipitated by efavirenz. ( 25909830 )
2015
11
Role of delta-aminolevulinic acid in the symptoms of acute porphyria. ( 25446301 )
2015
12
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms. ( 25762493 )
2015
13
Acute porphyria in a patient with Arnold Chiari malformation. ( 25697467 )
2015
14
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias. ( 25445397 )
2015
15
Successful administration of sugammadex in a patient with acute porphyria: A case report. ( 24992602 )
2014
16
Lead poisoning mimicking acute porphyria! ( 25653942 )
2014
17
Acute Porphyrias in the USA: Features of 108 Subjects from Porphyria Consortium. ( 25016127 )
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
Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene. ( 19460837 )
2009
28
Thomas Wakley, King George III and acute porphyria. ( 19966121 )
2009
29
Hepatic alteration of tryptophan metabolism in an acute porphyria model Its relation with gluconeogenic blockage. ( 17996218 )
2008
30
Nitric oxide and the clinical manifestations of acute porphyria. ( 19143888 )
2008
31
Identifying acute porphyria in patients with acute polyneuropathy or encephalopathy. ( 19002132 )
2008
32
Guide to drug porphyrogenicity prediction and drug prescription in the acute porphyrias. ( 17578481 )
2007
33
Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria. ( 18221605 )
2007
34
Open-label study of hemin for acute porphyria: clinical practice implications. ( 16945618 )
2006
35
Immunosuppressive therapy for acute porphyria: safety and efficacy in a patient with bone marrow failure. ( 17064214 )
2006
36
(Far) Outside the box: genomic approach to acute porphyria. ( 17298222 )
2006
37
Response of glucose metabolism enzymes in an acute porphyria model. Role of reactive oxygen species. ( 16125296 )
2005
38
ED presentation of acute porphyria. ( 15765337 )
2005
39
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. ( 15534187 )
2004
40
Clinical features predictive of a poor prognosis in acute porphyria. ( 15645362 )
2004
41
Acute porphyrias in the Argentinean population: a review. ( 12899439 )
2003
42
[Treatment of acute porphyrias. The importance of follow-up of patients and carriers]. ( 12809070 )
2003
43
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
44
Treatment of acute porphyria. ( 11480131 )
2001
45
Lipoprotein abnormalities in patients with asymptomatic acute porphyria. ( 10727671 )
2000
46
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
47
A new approach for the treatment of acute porphyria. ( 10361901 )
1999
48
Acute porphyria: the cost of suspicion. ( 10625031 )
1999
49
Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. ( 10207164 )
1999
50
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

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 GRCh37 Chromosome 1, 161138340: 161138340
4 PPOX NM_000309.4(PPOX): c.590T> C (p.Ile197Thr) single nucleotide variant not provided 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:

37
# 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 inner membrane GO:0005743 9.46 ALAS2 CPOX FECH PPOX
2 mitochondrial matrix GO:0005759 9.26 ALAS1 ALAS2 FECH PC
3 mitochondrion GO:0005739 9.17 ALAS1 ALAS2 CPOX FECH PC PPOX

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.85 ALAD ALAS1 ALAS2 PC
2 heme biosynthetic process GO:0006783 9.81 ALAD ALAS1 ALAS2 CPOX FECH HMBS
3 response to drug GO:0042493 9.74 ALAD FECH PPOX
4 tetrapyrrole biosynthetic process GO:0033014 9.65 ALAD ALAS1 ALAS2 HMBS UROS
5 response to lead ion GO:0010288 9.63 ALAD CPOX FECH
6 response to iron ion GO:0010039 9.61 ALAD CPOX HFE
7 cellular iron ion homeostasis GO:0006879 9.58 ALAS2 HFE
8 response to arsenic-containing substance GO:0046685 9.58 ALAD CPOX FECH
9 biosynthetic process GO:0009058 9.56 ALAS1 ALAS2
10 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 ALAD ALAS1 ALAS2 CPOX HMBS PPOX
11 response to metal ion GO:0010038 9.54 ALAD FECH
12 response to methylmercury GO:0051597 9.54 ALAD CPOX FECH
13 response to inorganic substance GO:0010035 9.52 ALAD CPOX
14 porphyrin-containing compound metabolic process GO:0006778 9.51 ALAS1 ALAS2
15 response to platinum ion GO:0070541 9.5 ALAD FECH UROS
16 response to insecticide GO:0017085 9.49 CPOX FECH
17 protoporphyrinogen IX metabolic process GO:0046501 9.48 FECH PPOX
18 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 identical protein binding GO:0042802 9.55 ALAD ALAS1 CPOX PC PCBD1
2 catalytic activity GO:0003824 9.5 ALAD ALAS2 PC
3 pyridoxal phosphate binding GO:0030170 9.26 ALAS1 ALAS2
4 lyase activity GO:0016829 9.02 ALAD FECH PCBD1 UROD UROS
5 5-aminolevulinate synthase activity GO:0003870 8.96 ALAS1 ALAS2

Sources for Acute Porphyria

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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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