MCID: ACT078
MIFTS: 44

Acute Porphyria

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

Aliases & Classifications for Acute Porphyria

MalaCards integrated aliases for Acute Porphyria:

Name: Acute Porphyria 12 14
Porphyrias, Hepatic 42 69
Acute Intermittent Porphyria 69
Hepatic Porphyria 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3133
MeSH 42 D017094
SNOMED-CT 64 55056006
UMLS 69 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 porphyria cutanea tarda and porphyria, acute hepatic, and has symptoms including abdominal pain, constipation and diarrhea. An important gene associated with Acute Porphyria is HMBS (Hydroxymethylbilane Synthase), and among its related pathways/superpathways are Metabolism and Porphyrin and chlorophyll 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 liver/biliary system

Related Diseases for Acute Porphyria

Diseases in the Porphyria family:

Acute Porphyria Urod-Related Porphyrias

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

(show all 39)
id Related Disease Score Top Affiliating Genes
1 porphyria cutanea tarda 28.8 CPOX FECH HFE HMBS PPOX UROD
2 porphyria, acute hepatic 11.7
3 porphyria 11.5
4 chester porphyria 11.4
5 coproporphyria 10.9
6 protoporphyria, erythropoietic, autosomal recessive 10.9
7 neuropathy 9.8
8 zap70-related combined immunodeficiency 9.8 ALAS2 FECH
9 slate pneumoconiosis 9.8 HFE UROD
10 tonsillar fossa cancer 9.7 ALAS1 ALAS2
11 rhizomelic chondrodysplasia punctata, type 2 9.7 HFE UROD
12 hepatitis 9.7
13 cerebritis 9.7
14 crater-like holes of optic disc 9.5 FECH UROD UROS
15 myocardial infarction 9.5
16 acute myocardial infarction 9.5
17 atherosclerosis 9.5
18 brucellosis 9.5
19 cerebral atherosclerosis 9.5
20 polyneuropathy 9.5
21 pericarditis 9.5
22 constipation 9.5
23 schizoaffective disorder 9.5
24 hyperthyroidism 9.5
25 myocarditis 9.5
26 meningitis 9.5
27 binswanger's disease 9.5
28 chiari malformation 9.5
29 pyridoxine deficiency 9.5
30 encephalopathy 9.5
31 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 9.2 ALAS2 HFE
32 aarskog-scott syndrome 9.0 ALAS1 ALAS2 FECH UROS
33 migraine, with or without aura 13 8.9 CPOX FECH HMBS UROD UROS
34 inflammatory bowel disease 28, early onset, autosomal recessive 8.2 ALAS1 CPOX FECH HMBS PPOX UROD
35 erythrokeratodermia variabilis et progressiva 4 8.2 ALAS2 CPOX FECH HMBS PPOX UROS
36 porphyria variegata 8.0 CPOX FECH HFE HMBS PPOX UROD
37 combined oxidative phosphorylation deficiency 30 7.4 ALAS1 ALAS2 CPOX FECH HMBS PPOX
38 intestinal tuberculosis 6.9 ALAS1 ALAS2 CPOX FECH HFE HMBS
39 multiple symmetrical lipomatosis 5.9 ALAS1 ALAS2 CPOX FECH HFE HMBS

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



Diseases related to Acute Porphyria

Symptoms & Phenotypes for Acute Porphyria

UMLS symptoms related to Acute Porphyria:


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

MGI Mouse Phenotypes related to Acute Porphyria:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.81 ALAS2 FECH HFE HMBS NR1I3 NR3C1
2 liver/biliary system MP:0005370 9.43 FECH HFE NR1I3 NR3C1 UROD UROS
3 mortality/aging MP:0010768 9.36 NR3C1 PC PPOX UROD UROS ALAS1

Drugs & Therapeutics for Acute Porphyria

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

(show all 21)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tin Phase 1, Phase 2 7440-31-5
2 Tin mesoporphyrin Phase 1, Phase 2
3
Chlorpromazine Approved, 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
20 Hormones
21 Hormones, Hormone Substitutes, and Hormone Antagonists

Interventional clinical trials:

(show all 21)

id Name Status NCT ID Phase Drugs
1 Heme Arginate in Cardiac Surgery Patients Unknown status NCT02142699 Phase 2 Heme arginate
2 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
3 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
4 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2 recombinant human porphobilinogen deaminase (Porphozym)
5 Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria Recruiting NCT02180412 Phase 2
6 Panhematin for Prevention of Acute Attacks of Porphyria Panhematin for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
7 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 ALN-AS1
8 Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
9 A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP) Completed NCT02452372 Phase 1 ALN-AS1;Sterile Normal Saline (0.9% NaCl)
10 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
11 Hemin in Healthy Subjects Completed NCT00882804 Phase 1 Hemin infusion;placebo infusion
12 Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine Hydrochloride Completed NCT02943213 Phase 1 Chlorpromazine Hydrochloride
13 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
14 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
15 Study of Nutritional Factors in Porphyria Completed NCT00004788
16 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 luteinizing hormone-releasing factor
17 Clinical Diagnosis of Acute Porphyria Recruiting NCT01568554
18 Longitudinal Study of the Porphyrias Recruiting NCT01561157
19 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
20 Acute Porphyria Biomarkers Enrolling by invitation NCT02935400 Hemin
21 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 69 / NDF-RT 48 :


Cochrane evidence based reviews: porphyrias, hepatic

Genetic Tests for Acute Porphyria

Anatomical Context for Acute Porphyria

MalaCards organs/tissues related to Acute Porphyria:

39
Liver, Testes, Bone, Bone Marrow, Brain, Pineal, Globus Pallidus

Publications for Acute Porphyria

Articles related to Acute Porphyria:

(show top 50) (show all 267)
id Title Authors Year
1
Cerebral vasospasm in acute porphyria. ( 28695690 )
2017
2
An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom. ( 28220410 )
2017
3
Lead Poisoning Can Be Easily Misdiagnosed as Acute Porphyria and Nonspecific Abdominal Pain. ( 28630774 )
2017
4
Radiopharmaceuticals in Acute Porphyria. ( 27568214 )
2016
5
Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center. ( 28025645 )
2016
6
Acute Porphyria Presenting as Major Trauma: Case Report and Literature Review. ( 27624508 )
2016
7
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias. ( 25445397 )
2015
8
Acute porphyria in a patient with Arnold Chiari malformation. ( 25697467 )
2015
9
Acute porphyria precipitated by efavirenz. ( 25909830 )
2015
10
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms. ( 25762493 )
2015
11
Role of delta-aminolevulinic acid in the symptoms of acute porphyria. ( 25446301 )
2015
12
Acute Porphyrias in the USA: Features of 108 Subjects from Porphyria Consortium. ( 25016127 )
2014
13
Lead poisoning mimicking acute porphyria! ( 25653942 )
2014
14
Successful administration of sugammadex in a patient with acute porphyria: A case report. ( 24992602 )
2014
15
Acute porphyria presenting as epilepsia partialis continua. ( 23898283 )
2013
16
Alterations of the redox state, pentose pathway and glutathione metabolism in an acute porphyria model. Their impact on heme pathway. ( 23390166 )
2013
17
Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow-up. ( 22851509 )
2012
18
How porphyrinogenic drugs modeling acute porphyria impair the hormonal status that regulates glucose metabolism. Their relevance in the onset of this disease. ( 21889565 )
2011
19
Schizoaffective disorder with missed diagnosis of acute porphyria: a case report and overview. ( 22454794 )
2011
20
Sustained enzymatic correction by rAAV-mediated liver gene therapy protects against induced motor neuropathy in acute porphyria mice. ( 20877347 )
2011
21
Acute porphyria precipitated by nevirapine. ( 20940539 )
2010
22
A retrospective analysis of outcome of pregnancy in patients with acute porphyria. ( 20567908 )
2010
23
Evaluation of gonadotropin-releasing hormone agonist treatment for prevention of menstrual-related attacks in acute porphyria. ( 20021268 )
2010
24
Thomas Wakley, King George III and acute porphyria. ( 19966121 )
2009
25
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
26
Nitric oxide and the clinical manifestations of acute porphyria. ( 19143888 )
2008
27
Identifying acute porphyria in patients with acute polyneuropathy or encephalopathy. ( 19002132 )
2008
28
Hepatic alteration of tryptophan metabolism in an acute porphyria model Its relation with gluconeogenic blockage. ( 17996218 )
2008
29
Guide to drug porphyrogenicity prediction and drug prescription in the acute porphyrias. ( 17578481 )
2007
30
Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria. ( 18221605 )
2007
31
Open-label study of hemin for acute porphyria: clinical practice implications. ( 16945618 )
2006
32
Immunosuppressive therapy for acute porphyria: safety and efficacy in a patient with bone marrow failure. ( 17064214 )
2006
33
(Far) Outside the box: genomic approach to acute porphyria. ( 17298222 )
2006
34
ED presentation of acute porphyria. ( 15765337 )
2005
35
Response of glucose metabolism enzymes in an acute porphyria model. Role of reactive oxygen species. ( 16125296 )
2005
36
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. ( 15534187 )
2004
37
Clinical features predictive of a poor prognosis in acute porphyria. ( 15645362 )
2004
38
Acute porphyrias in the Argentinean population: a review. ( 12899439 )
2003
39
[Treatment of acute porphyrias. The importance of follow-up of patients and carriers]. ( 12809070 )
2003
40
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
41
Treatment of acute porphyria. ( 11480131 )
2001
42
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
43
Lipoprotein abnormalities in patients with asymptomatic acute porphyria. ( 10727671 )
2000
44
A new approach for the treatment of acute porphyria. ( 10361901 )
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
Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. ( 10207164 )
1999
47
Acute porphyria following commencement of indinavir. ( 10203389 )
1999
48
Acute porphyria: the cost of suspicion. ( 10625031 )
1999
49
Identification of acute porphyria: evaluation of a commercial screening test for urinary porphobilinogen. ( 9838985 )
1998
50
Acute porphyria: treatment with heme. ( 9516678 )
1998

Variations for Acute Porphyria

Expression for Acute Porphyria

Search GEO for disease gene expression data for Acute Porphyria.

Pathways for Acute Porphyria

GO Terms for Acute Porphyria

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.46 ALAS2 CPOX FECH PPOX
2 mitochondrial matrix GO:0005759 9.35 ALAS1 ALAS2 FECH NR3C1 PC
3 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 13)
id Name GO ID Score Top Affiliating Genes
1 heme biosynthetic process GO:0006783 9.76 ALAS1 ALAS2 CPOX FECH HMBS PPOX
2 tetrapyrrole biosynthetic process GO:0033014 9.56 ALAS1 ALAS2 HMBS UROS
3 biosynthetic process GO:0009058 9.52 ALAS1 ALAS2
4 cellular response to dexamethasone stimulus GO:0071549 9.51 FECH NR3C1
5 protoporphyrinogen IX biosynthetic process GO:0006782 9.5 ALAS1 ALAS2 CPOX HMBS PPOX UROD
6 response to iron ion GO:0010039 9.49 CPOX HFE
7 response to lead ion GO:0010288 9.48 CPOX FECH
8 response to arsenic-containing substance GO:0046685 9.46 CPOX FECH
9 response to methylmercury GO:0051597 9.43 CPOX FECH
10 porphyrin-containing compound metabolic process GO:0006778 9.4 ALAS1 ALAS2
11 response to insecticide GO:0017085 9.37 CPOX FECH
12 protoporphyrinogen IX metabolic process GO:0046501 9.32 FECH PPOX
13 porphyrin-containing compound biosynthetic process GO:0006779 9.1 CPOX FECH HMBS PPOX UROD UROS

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

id Name GO ID Score Top Affiliating Genes
1 steroid hormone receptor activity GO:0003707 9.26 NR1I3 NR3C1
2 pyridoxal phosphate binding GO:0030170 9.16 ALAS1 ALAS2
3 lyase activity GO:0016829 9.13 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
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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