MCID: ACT078
MIFTS: 48

Acute Porphyria malady

Summaries for Acute Porphyria

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33MalaCards
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MalaCards: Acute Porphyria, also known as acute intermittent porphyria, is related to acute intermittent porphyria and variegate porphyria. An important gene associated with Acute Porphyria is HMBS (hydroxymethylbilane synthase), and among its related pathways are Nuclear receptors in lipid metabolism and toxicity and Drug Induction of Bile Acid Pathway. The drugs chlorpromazine and chlorpromazine hydrochloride and the compounds uroporphyrin i and androstanol have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and brain.

Aliases & Classifications for Acute Porphyria

Sources:
61UMLS, 8Disease Ontology, 10DISEASES, 35MeSH, 57SNOMED-CT
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Aliases & Descriptions:

acute porphyria 8 10
acute intermittent porphyria 61
porphyrias, hepatic 61
hepatic porphyria 8


External Ids:

Disease Ontology8 DOID:3133
SNOMED-CT57 55056006
MeSH35 D017094

Related Diseases for Acute Porphyria

Sources:
17GeneCards, 18GeneDecks
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Diseases in the congenital porphyria family:

acute porphyria porphyria

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

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1acute intermittent porphyria31.1CPOX, ALAD, PPOX, FECH, HMBS
2variegate porphyria30.6HMBS, ALAD, CPOX, FECH, PPOX
3porphyria cutanea tarda30.2FECH, HMBS, CPOX, ALAD, PPOX
4erythropoietic protoporphyria30.0CPOX, PPOX, FECH
5hereditary coproporphyria30.0FECH, PPOX, HMBS, ALAD, CPOX
6chronic hepatic porphyria10.6
7systemic lupus erythematosus10.5
8status epilepticus10.4
9cortical blindness10.4
10blindness10.4
11acute pancreatitis10.3
12hepatitis a10.3
13autonomic neuropathy10.3
14hypercholesterolemia10.3
15dysautonomia10.3
16chester porphyria10.3
17acute liver failure10.2
18hepatitis c10.2
19hepatitis e10.2
20intracranial aneurysm10.2
21hyperhomocysteinemia10.2
22autoimmune hepatitis10.2
23infectious mononucleosis10.2
24n syndrome10.2
25phaeochromocytoma10.2
26acute leukemia10.2
27tyrosinemia10.2
28dwarfism10.2
29rasmussen encephalitis10.2
30small fiber neuropathy10.2
31guillain-barr� syndrome10.2
32postural hypotension10.2
33malaria, severe10.2
34nephritis10.2
35acute hepatic porphyria10.2
36typhoidal tularemia10.0
37hepatitis b10.0
38hepatoerythropoietic porphyria10.0
39tularemia10.0
40aminolevulinate dehydratase deficiency porphyria10.0
41hepatitis c virus10.0
42harderoporphyria10.0
43cerebral atherosclerosis10.0
44motor peripheral neuropathy10.0
45schizoaffective disorder10.0
46acute myocardial infarction10.0
47acute myocarditis10.0
48atherosclerosis10.0
49b cell deficiency10.0
50binswanger's disease10.0

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



Diseases related to acute porphyria

Clinical Features for Acute Porphyria

Drugs & Therapeutics for Acute Porphyria

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Acute Porphyria

Drug clinical trials:

Search ClinicalTrials for Acute Porphyria

Search NIH Clinical Center for Acute Porphyria

Search CenterWatch for Acute Porphyria

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Acute Porphyria

Anatomical Context for Acute Porphyria

Sources:
33MalaCards
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MalaCards organs/tissues related to Acute Porphyria:

33
Bone marrow, Whole blood, Brain, Heart, Small intestine, Colon, Kidney, Liver, Thyroid, Breast, T cells, B lymphoblasts, B cells, Globus pallidus, Pineal

Animal Models for Acute Porphyria or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Acute Porphyria

Sources:
51PubMed
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Articles related to Acute Porphyria:

(show top 50)    (show all 825)
idTitleAuthorsYear
1
Variegate porphyria and atrial fibrillation: acute attack induced by propafenone. (22118989)
2012
2
Acute intermittent porphyria associated with respiratory failure: a multidisciplinary approach. (21687623)
2011
3
Identification of two novel PBGD mutations in acute intermittent porphyria patients accompanying anemia in mainland China. (21669542)
2011
4
Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria. (19138865)
2009
5
Acute intermittent porphyria and chronic transaminase elevation]. (18405488)
2008
6
Gene symbol: HMBS. Disease: Porphyria, acute intermittent. (15991330)
2005
7
ED presentation of acute porphyria. (15765337)
2005
8
Acute intermittent porphyria in childhood: a population-based study. (12839285)
2003
9
Acute intermittent porphyria: an unusual cause of malignant hypertension. (12725276)
2003
10
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
11
Beneficial effect of diabetes on acute intermittent porphyria. (11919141)
2002
12
Pregnancy with acute intermittent porphyria: a case report and review of literature. (12214832)
2002
13
A novel mutation in a family with non-erythroid variant form of acute intermittent porphyria. (11185747)
2000
14
Investigations on the formation of urinary coproporphyrin isomers I-IV in 5-aminolevulinic acid dehydratase deficiency porphyria, acute lead intoxication and after oral 5-aminolevulinic acid loading. (10211628)
1999
15
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
16
Insertion of Alu element responsible for acute intermittent porphyria. (10408772)
1999
17
Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families. (9225970)
1997
18
Encephalopathy due to hyponatraemia in acute intermittent porphyria. (9370987)
1997
19
Drug treatment of hypertension in acute intermittent porphyria: doxazosin and amlodipine. (9088595)
1997
20
Effects of administration of antioxidants in acute intermittent porphyria. (9228325)
1997
21
Acute intermittent porphyria caused by defective splicing of porphobilinogen deaminase RNA: a synonymous codon mutation at -22 bp from the 5' splice site causes skipping of exon 3. (8733062)
1996
22
Acute intermittent porphyria caused by a G to C mutation in exon 12 of the porphobilinogen deaminase gene that results in exon skipping. (8262514)
1993
23
Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene. (1577472)
1992
24
Hypertension and renal impairment as complications of acute porphyria. (1331893)
1992
25
Regional anesthesia as anesthetic technique of choice in acute hepatic porphyria. (1610588)
1992
26
Damage to rat liver mitochondria promoted by delta-aminolevulinic acid-generated reactive oxygen species: connections with acute intermittent porphyria and lead-poisoning. (1984785)
1991
27
Primary liver carcinoma in two sisters with acute intermittent porphyria. (2171334)
1990
28
Identification of the mutations in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria. (2246852)
1990
29
Controlled trial of haem arginate in acute hepatic porphyria. (2566827)
1989
30
Acute intermittent porphyria (AIP)--an unusual cause of acute confusional state. A case report. (3218937)
1988
31
Neurological complications in intermittent acute porphyria. (3220806)
1988
32
Studies in laboratory animals to assess the safety of anti-inflammatory agents in acute porphyria. (3662642)
1987
33
Clinical effects of alcohol in intermittent acute porphyria. (3818518)
1986
34
Induction of anaesthesia with etomidate in a patient with acute intermittent porphyria. (3986654)
1985
35
Autonomic neuropathy in acute intermittent porphyria. (4056804)
1985
36
Acute intermittent porphyria and hydatid mole: etiology of hyperthyroidism. (6720802)
1984
37
Hematin-induced hemolysis in acute porphyria. (6497204)
1984
38
Hepatocellular carcinoma in patients with acute intermittent porphyria. (6328897)
1984
39
Absence of close linkage between acute intermittent porphyria and the ABO, Rh, P, acid phosphatase, Pr, orosmucoid and pepsinogen loci. (6955272)
1982
40
Acute intermittent porphyria associated with inappropriate antidiuretic hormone secretion, hypokalemic alkalosis, and secondary hyperaldosteronism. (472850)
1979
41
Acute intermittent porphyria and the KlA1ver -- Bucy syndrome. (513431)
1979
42
Ketamine is safe in acute intermittent porphyria. (453629)
1979
43
Letter: Screening test for intermittent acute porphyria. (55612)
1976
44
Screening test for acute porphyria. (4098459)
1970
45
Abnormalities of the porphyrin metabolism in relatives of patients with acute porphyria. (5925932)
1966
46
Effect of pyridoxine deficiency on porphyrin precursor excretion in acute intermittent porphyria. (5914112)
1966
47
Acute porphyria in an epileptic. (14025380)
1963
48
Acute porphyria: necropsy studies in nine cases. (13775862)
1961
49
Intermittent acute porphyria treated with chlorpromazine. (13400258)
1957
50
Acute porphyria with severe neurological changes. (14808175)
1950

Genetic Variations for Acute Porphyria

Expression for genes affiliated with Acute Porphyria

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Acute Porphyria

Search GEO for disease gene expression data for Acute Porphyria.

Pathways for genes affiliated with Acute Porphyria

Sources:
38NCBI BioSystems Database, 50PharmGKB, 30KEGG, 54Reactome, 12EMD Millipore
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Compounds for genes affiliated with Acute Porphyria

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 50PharmGKB
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Compounds related to Acute Porphyria according to GeneCards/GeneDecks:

(show top 50)    (show all 84)
idCompoundScoreTop Affiliating Genes
1uroporphyrin i4510.2ALAD, HMBS
2androstanol4510.0NR1I2, NR1I3
3ppix4510.0PPOX, HMBS, FECH
4hydroxymethylbilane45 2411.0FECH, PPOX, HMBS
5pregnanedione2910.0NR1I3, NR1I2
6androstenol459.9NR1I3, NR1I2
7pregnane459.9NR1I2, NR1I3
8dmes459.8NR1I3, NR1I2
9citco45 2910.8NR1I2, NR1I3
10pregnenolone 16alpha-carbonitrile459.7NR1I2, NR1I3
11nonylphenol459.7NR1I3, NR1I2
12uroporphyrin459.7HMBS, ALAD, CPOX
13fructose45 1110.5PCK2, ALAD, PC
14cholic acid45 29 11 2412.5LIPC, FECH, NR1I2
15malate459.4PCK2, PC, GLUL
16uroporphyrinogen-iii459.4CPOX, HMBS, PPOX, FECH
17alpha-ketoglutarate459.4GLUL, PCK2, PC
18phosphoenolpyruvate45 1110.4PCK2, PC, GLUL
19oxaloacetate459.3PCK2, PC
20protoporphyrin ix45 11 2411.1CPOX, ALAD, HMBS, PPOX, FECH
21glucose 6-phosphate45 2410.1PCK2, PC, GLUL
22phenobarbital45 29 1111.0ALAS1, NR1I3, NR1I2, HMBS
23glycerol45 11 2411.0LIPC, PCK2, PC, GLUL
24sterol459.0PCK2, LIPC, NR1I3, NR1I2
25magnesium45 11 2410.9PC, FECH, NR1I3, GLUL, ALAD
26dexamethasone45 50 29 1111.7PC, GLUL, PCK2, NR1I2, NR1I3
27protoporphyrinogen458.7PPOX, GLUL, HMBS, ALAD, CPOX, FECH
28glycogen45 249.6PCK2, GLUL, PC, LIPC
29haem458.6FECH, CPOX, HMBS, ALAS1, PPOX
30lactate458.6ALAD, GLUL, PC, PCK2, CPOX
31acetyl-coa45 249.5PCK2, PC, LIPC, ALAS1
32lead458.5CPOX, ALAD, GLUL, FECH, NR1I2, HMBS
33nitric oxide45 11 2410.5NR1I2, ALAD, HMBS, GLUL, FECH, CPOX
34ethanol45 50 11 2411.4GLUL, CPOX, ALAD, HMBS, LIPC, NR1I3
35arginine458.4NR1I3, HMBS, GLUL, LIPC, PPOX, CPOX
36fatty acid458.3CPOX, PC, NR1I2, LIPC, PCK2
37porphobilinogen45 11 2410.3ALAD, HMBS, PPOX, FECH, CPOX, ALAS1
38porphyrin458.3CPOX, ALAD, ALAS1, FECH, PPOX, HMBS
39formyl-coa45 249.3FECH, CPOX, ALAD, PPOX, HMBS, ALAS1
405-aminolevulinic acid45 249.3ALAD, CPOX, HMBS, FECH, ALAS1, PPOX
41heme29 11 2410.3FECH, PPOX, ALAS1, HMBS, ALAD, CPOX
42glutamate458.3NR1I3, CPOX, PCK2, PC, GLUL, PPOX
43cholesterol45 29 11 2411.0NR1I2, CPOX, GLUL, PCK2, LIPC, NR1I3
44superoxide45 248.9ALAD, PC, GLUL, LIPC, NR1I2, FECH
45iron45 248.9ALAS1, HMBS, GLUL, PPOX, CPOX, FECH
46glucose457.7CPOX, HMBS, PCK2, PC, GLUL, LIPC
47alanine457.5FECH, PC, PCK2, ALAS1, GLUL, CPOX
48atp45 298.4GLUL, LIPC, CPOX, NR1I2, PCK2, HMBS
49lipid457.3LIPC, ALAD, GLUL, PCK2, NR1I2, NR1I3
50oxygen45 248.1FECH, PPOX, CPOX, ALAS1, LIPC, NR1I3

GO Terms for genes affiliated with Acute Porphyria

Sources:
16Gene Ontology
See all sources

Cellular components related to Acute Porphyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:0057598.2ALAS1, PCK2, PC, FECH
2mitochondrionGO:0057397.7CPOX, ALAS1, PCK2, PC, GLUL

Biological processes related to Acute Porphyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gluconeogenesisGO:0060949.6PCK2, PC
2intracellular receptor signaling pathwayGO:0305229.4NR1I3, NR1I2
3protoporphyrinogen IX biosynthetic processGO:0067828.2PPOX, HMBS, ALAS1, ALAD, CPOX
4porphyrin-containing compound metabolic processGO:0067788.0CPOX, ALAD, ALAS1, HMBS, PPOX, FECH
5heme biosynthetic processGO:0067837.9FECH, PPOX, HMBS, ALAS1, ALAD, CPOX
6small molecule metabolic processGO:0442816.5FECH, PPOX, GLUL, PC, PCK2, HMBS

Molecular functions related to Acute Porphyria according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0048799.7NR1I3, NR1I2

Products for genes affiliated with Acute Porphyria

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  • Proteins
  • Lysates
  • Antibodies

Sources for Acute Porphyria

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet