MCID: ACT078
MIFTS: 46

Acute Porphyria malady

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

Aliases & Classifications for Acute Porphyria

Aliases & Descriptions 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, acute hepatic 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 Metabolism and Porphyrin and chlorophyll metabolism. The drugs Iron and Deferasirox 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 38)
id Related Disease Score Top Affiliating Genes
1 porphyria, acute hepatic 11.7
2 porphyria 11.6
3 chester porphyria 11.4
4 porphyria cutanea tarda 11.2
5 coproporphyria 10.9
6 protoporphyria, erythropoietic, autosomal recessive 10.9
7 porphyria, acute intermittent 10.9
8 16q24.3 microdeletion syndrome 10.0 ALAS2 FECH
9 kaolin pneumoconiosis 10.0 HFE UROD
10 muscular dystrophy, congenital, 1b 9.8 HFE UROD
11 neuropathy 9.8
12 crater-like holes of optic disc 9.8 FECH UROD UROS
13 hepatitis 9.7
14 macular degeneration, age-related, 7 9.6 CPOX FECH HMBS UROD UROS
15 aarskog-scott syndrome 9.6 ALAS1 ALAS2 FECH UROS
16 peroxisome biogenesis disorder 12a 9.5 CPOX FECH HFE HMBS PPOX UROD
17 encephalopathy 9.5
18 brucellosis 9.5
19 cerebral atherosclerosis 9.5
20 polyneuropathy 9.5
21 pericarditis 9.5
22 constipation 9.5
23 cerebritis 9.5
24 myocardial infarction 9.5
25 hyperthyroidism 9.5
26 myocarditis 9.5
27 meningitis 9.5
28 binswanger's disease 9.5
29 acute myocardial infarction 9.5
30 chiari malformation 9.5
31 atherosclerosis 9.5
32 pyridoxine deficiency 9.5
33 lathosterolosis 9.4 ALAS1 CPOX FECH HMBS PPOX UROD
34 palmoplantar keratoderma, nagashima type 9.4 ALAS2 CPOX FECH HMBS PPOX UROS
35 mandibuloacral dysplasia with type b lipodystrophy 9.3 CPOX FECH HFE HMBS PPOX UROD
36 coronary heart disease 5 9.1 ALAS1 ALAS2 CPOX FECH HMBS PPOX
37 intestinal tuberculosis 8.9 ALAS1 ALAS2 CPOX FECH HFE HMBS
38 acanthosis nigricans 8.4 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

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 HNF4A NR1H2 PC PPOX UROD UROS
2 liver/biliary system MP:0005370 9.43 FECH HFE HNF4A NR1H2 UROD UROS
3 mortality/aging MP:0010768 9.36 ALAS1 ALAS2 FECH HFE HMBS HNF4A

Drugs & Therapeutics for Acute Porphyria

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

(show all 49)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 3,Phase 2 7439-89-6 23925
2
Deferasirox Approved, Investigational Phase 3,Phase 2 201530-41-8 5493381
3
Colestipol Approved Phase 2, Phase 3 26658-42-4, 50925-79-6 62816
4 alpha-MSH Phase 3,Phase 2
5 Chelating Agents Phase 3,Phase 2
6 Hormone Antagonists Phase 3,Phase 2
7 Hormones Phase 3,Phase 2
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
9 Iron Chelating Agents Phase 3,Phase 2
10 Hypolipidemic Agents Phase 2, Phase 3
11 Lipid Regulating Agents Phase 2, Phase 3
12 Antimetabolites Phase 2, Phase 3
13 cysteine Nutraceutical Phase 3
14
Hydroxychloroquine Approved Phase 2 118-42-3 3652
15
Sofosbuvir Approved Phase 2 1190307-88-0 45375808
16
Ledipasvir Approved Phase 2 1256388-51-8 67505836
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 Antirheumatic Agents Phase 2
22 Antiparasitic Agents Phase 2
23 Antiprotozoal Agents Phase 2
24 Ledipasvir, sofosbuvir drug combination Phase 2
25 Antiviral Agents Phase 2
26
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
27
Chlorpromazine Approved, Vet_approved Phase 1 50-53-3 2726
28 Gastrointestinal Agents Phase 1
29 Neurotransmitter Agents Phase 1
30 Tranquilizing Agents Phase 1
31 Peripheral Nervous System Agents Phase 1
32 Dopamine Agents Phase 1
33 Dopamine Antagonists Phase 1
34 Antiemetics Phase 1
35 Psychotropic Drugs Phase 1
36 Liver Extracts Phase 1
37 Antipsychotic Agents Phase 1
38 Autonomic Agents Phase 1
39 Central Nervous System Depressants 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 Trace Elements
44 Micronutrients
45 Dermatologic Agents
46 Anti-Bacterial Agents
47 Photosensitizing Agents
48 Antitubercular Agents
49 Iron Supplement Nutraceutical

Interventional clinical trials:

(show all 38)
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 Porphozym in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2
9 Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT01097044 Phase 2
10 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2
11 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2
12 Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea Tarda Recruiting NCT01573754 Phase 2
13 Panhematin for Prevention of Acute Attacks of Porphyria Panhematin for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
14 Controlled Trial of Panhematin in Treatment of Acute Attacks of Porphyria Recruiting NCT02180412 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 Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine Hydrochloride Completed NCT02943213 Phase 1
19 Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of Porphyria Completed NCT00004398 Phase 1
20 Hemin in Healthy Subjects Completed NCT00882804 Phase 1
21 Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of Porphyria Completed NCT00004397 Phase 1
22 A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP) Recruiting NCT02452372 Phase 1
23 Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria Unknown status NCT00206869
24 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
25 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
26 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
27 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831
28 Study of Nutritional Factors in Porphyria Completed NCT00004788
29 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330
30 EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP) Recruiting NCT02240784
31 Longitudinal Study of the Porphyrias Recruiting NCT01561157
32 Clinical Diagnosis of Acute Porphyria Recruiting NCT01568554
33 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Recruiting NCT01688895
34 Oral Iron for Erythropoietic Protoporphyrias Recruiting NCT02979249
35 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)) Active, not recruiting NCT01880983
36 Acute Porphyria Biomarkers Enrolling by invitation NCT02935400
37 Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP) Not yet recruiting NCT01617642
38 Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria Terminated NCT01550705

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 263)
id Title Authors Year
1
Radiopharmaceuticals in Acute Porphyria. ( 27568214 )
2016
2
Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center. ( 28025645 )
2016
3
Acute Porphyria Presenting as Major Trauma: Case Report and Literature Review. ( 27624508 )
2016
4
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias. ( 25445397 )
2015
5
Acute porphyria in a patient with Arnold Chiari malformation. ( 25697467 )
2015
6
Role of delta-aminolevulinic acid in the symptoms of acute porphyria. ( 25446301 )
2015
7
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms. ( 25762493 )
2015
8
Acute porphyria precipitated by efavirenz. ( 25909830 )
2015
9
Acute Porphyrias in the USA: Features of 108 Subjects from Porphyria Consortium. ( 25016127 )
2014
10
Successful administration of sugammadex in a patient with acute porphyria: A case report. ( 24992602 )
2014
11
Lead poisoning mimicking acute porphyria! ( 25653942 )
2014
12
Acute porphyria presenting as epilepsia partialis continua. ( 23898283 )
2013
13
Alterations of the redox state, pentose pathway and glutathione metabolism in an acute porphyria model. Their impact on heme pathway. ( 23390166 )
2013
14
Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow-up. ( 22851509 )
2012
15
Schizoaffective disorder with missed diagnosis of acute porphyria: a case report and overview. ( 22454794 )
2011
16
Sustained enzymatic correction by rAAV-mediated liver gene therapy protects against induced motor neuropathy in acute porphyria mice. ( 20877347 )
2011
17
How porphyrinogenic drugs modeling acute porphyria impair the hormonal status that regulates glucose metabolism. Their relevance in the onset of this disease. ( 21889565 )
2011
18
Evaluation of gonadotropin-releasing hormone agonist treatment for prevention of menstrual-related attacks in acute porphyria. ( 20021268 )
2010
19
A retrospective analysis of outcome of pregnancy in patients with acute porphyria. ( 20567908 )
2010
20
Acute porphyria precipitated by nevirapine. ( 20940539 )
2010
21
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
22
Thomas Wakley, King George III and acute porphyria. ( 19966121 )
2009
23
Hepatic alteration of tryptophan metabolism in an acute porphyria model Its relation with gluconeogenic blockage. ( 17996218 )
2008
24
Identifying acute porphyria in patients with acute polyneuropathy or encephalopathy. ( 19002132 )
2008
25
Nitric oxide and the clinical manifestations of acute porphyria. ( 19143888 )
2008
26
Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria. ( 18221605 )
2007
27
Guide to drug porphyrogenicity prediction and drug prescription in the acute porphyrias. ( 17578481 )
2007
28
(Far) Outside the box: genomic approach to acute porphyria. ( 17298222 )
2006
29
Immunosuppressive therapy for acute porphyria: safety and efficacy in a patient with bone marrow failure. ( 17064214 )
2006
30
Open-label study of hemin for acute porphyria: clinical practice implications. ( 16945618 )
2006
31
ED presentation of acute porphyria. ( 15765337 )
2005
32
Response of glucose metabolism enzymes in an acute porphyria model. Role of reactive oxygen species. ( 16125296 )
2005
33
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. ( 15534187 )
2004
34
Clinical features predictive of a poor prognosis in acute porphyria. ( 15645362 )
2004
35
Acute porphyrias in the Argentinean population: a review. ( 12899439 )
2003
36
[Treatment of acute porphyrias. The importance of follow-up of patients and carriers]. ( 12809070 )
2003
37
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
38
Treatment of acute porphyria. ( 11480131 )
2001
39
Lipoprotein abnormalities in patients with asymptomatic acute porphyria. ( 10727671 )
2000
40
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
41
Acute porphyria: the cost of suspicion. ( 10625031 )
1999
42
Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. ( 10207164 )
1999
43
A new approach for the treatment of acute porphyria. ( 10361901 )
1999
44
Acute porphyria following commencement of indinavir. ( 10203389 )
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: treatment with heme. ( 9516678 )
1998
47
Identification of acute porphyria: evaluation of a commercial screening test for urinary porphobilinogen. ( 9838985 )
1998
48
Effects of new anticonvulsant medications on porphyrin synthesis in cultured liver cells: potential implications for patients with acute porphyria. ( 9222176 )
1997
49
Drug treatment in acute porphyria. ( 9384458 )
1997
50
Primary liver cancer in two sisters in Holland with intermittent acute porphyria. ( 9254746 )
1997

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 9.26 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 14)
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 cellular iron ion homeostasis GO:0006879 9.54 ALAS2 HFE
4 biosynthetic process GO:0009058 9.52 ALAS1 ALAS2
5 lipid homeostasis GO:0055088 9.51 HNF4A NR1H2
6 protoporphyrinogen IX biosynthetic process GO:0006782 9.5 ALAS1 ALAS2 CPOX HMBS PPOX UROD
7 response to iron ion GO:0010039 9.49 CPOX HFE
8 response to lead ion GO:0010288 9.48 CPOX FECH
9 response to arsenic-containing substance GO:0046685 9.46 CPOX FECH
10 response to methylmercury GO:0051597 9.43 CPOX FECH
11 porphyrin-containing compound metabolic process GO:0006778 9.4 ALAS1 ALAS2
12 response to insecticide GO:0017085 9.37 CPOX FECH
13 protoporphyrinogen IX metabolic process GO:0046501 9.32 FECH PPOX
14 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 9.32 HNF4A NR1H2
2 pyridoxal phosphate binding GO:0030170 9.26 ALAS1 ALAS2
3 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0004879 9.16 HNF4A NR1H2
4 lyase activity GO:0016829 9.13 FECH UROD UROS
5 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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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