MCID: ACT078
MIFTS: 48

Acute Porphyria malady

Summaries for Acute Porphyria

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MalaCards: Acute Porphyria, also known as acute intermittent porphyria, is related to porphyria and acute intermittent 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 hemin and the compounds uroporphyrin i and androstanol have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and brain.

Aliases & Classifications for Acute Porphyria

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8Disease Ontology, 10DISEASES, 60UMLS, 34MeSH, 56SNOMED-CT
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Aliases & Descriptions:

acute porphyria 8 10
acute intermittent porphyria 60
porphyrias, hepatic 60
hepatic porphyria 8


External Ids:

Disease Ontology8 DOID:3133
SNOMED-CT56 55056006
MeSH34 D017094

Related Diseases for Acute Porphyria

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17GeneCards, 18GeneDecks
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Diseases in the Congenital Porphyria family:

acute porphyria Porphyria
Urod-Related Porphyrias

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

(show top 50)    (show all 95)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria31.7CPOX, ALAD, PPOX, FECH, HMBS, ALAS1
2acute intermittent porphyria31.0CPOX, ALAD, PPOX, FECH, HMBS
3variegate porphyria30.5HMBS, ALAD, CPOX, FECH, PPOX
4malaria30.2ALAD
5hepatocellular carcinoma30.2LIPC, NR1I3, GLUL, NR1I2
6porphyria cutanea tarda30.1FECH, HMBS, CPOX, ALAD, PPOX
7erythropoietic protoporphyria29.9CPOX, PPOX, FECH
8hereditary coproporphyria29.9FECH, PPOX, HMBS, ALAD, CPOX
9hepatitis a10.6
10systemic lupus erythematosus10.5
11lupus erythematosus10.5
12respiratory failure10.5
13acute pancreatitis10.4
14cortical blindness10.4
15pancreatitis10.4
16autonomic neuropathy10.3
17acute hepatic porphyria10.3
18neuropathy10.3
19hypertension10.2
20peripheral neuropathy10.2
21acute liver failure10.2
22acute thyroiditis10.2
23parkinson's disease10.2
24crohn's disease10.2
25inappropriate adh syndrome10.2
26intracranial aneurysm10.2
27hyperhomocysteinemia10.2
28hepatitis b10.2
29autoimmune hepatitis10.2
30phaeochromocytoma10.2
31acute leukemia10.2
32diabetes mellitus10.2
33encephalitis10.2
34epilepsy syndrome10.2
35hyperaldosteronism10.2
36hypothyroidism10.2
37inflammatory bowel disease10.2
38intestinal perforation10.2
39leukemia10.2
40malignant hypertension10.2
41optic atrophy10.2
42retinitis10.2
43schizophrenia10.2
44thyroiditis10.2
45tyrosinemia10.2
46dwarfism10.2
47image syndrome10.2
48hepatitis c10.2
49alcoholic hepatitis10.2
50focal epilepsy10.2

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



Diseases related to acute porphyria

Clinical Features for Acute Porphyria

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Drugs & Therapeutics for Acute Porphyria

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

Genetic Tests for Acute Porphyria

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Anatomical Context for Acute Porphyria

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32MalaCards
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MalaCards organs/tissues related to Acute Porphyria:

32
Liver, Testes, Brain, Kidney, Bone marrow, Bone, Colon, Heart, Whole blood, Thyroid, Breast, Globus pallidus, Pineal

Animal Models for Acute Porphyria or affiliated genes

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Publications for Acute Porphyria

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50PubMed
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Articles related to Acute Porphyria:

(show top 50)    (show all 825)
idTitleAuthorsYear
1
Assessing nutritional status of acute intermittent porphyria patients. (22519672)
2012
2
A retrospective analysis of outcome of pregnancy in patients with acute porphyria. (20567908)
2010
3
Acute porphyria precipitated by nevirapine. (20940539)
2010
4
Acute intermittent porphyria in pregnancy: a common misdiagnosis. (21355451)
2010
5
Novel human pathological mutations. Gene symbol: HMBS. Disease: Porphyria, acute intermittent. (19694018)
2009
6
Role of two nutritional hepatic markers (insulin-like growth factor 1 and transthyretin) in the clinical assessment and follow-up of acute intermittent porphyria patients. (19570056)
2009
7
Acute Intermittent Porphyria: Some Diagnoses are Only Made If Thought of. (21607216)
2008
8
Safety of amlodipine use in patients with acute intermittent porphyria. (17441932)
2007
9
International air travel: a risk factor for attacks in acute intermittent porphyria. (12927685)
2003
10
Gabapentin and propofol for treatment of status epilepticus in acute intermittent porphyria. (14597800)
2003
11
Acute intermittent porphyria and systemic lupus erythematosus: report of a case and review of the literature. (11999885)
2002
12
Could attacks of abdominal pain in cases of acute intermittent porphyria be due to intestinal angina? (10762459)
2000
13
Acute porphyria: the cost of suspicion. (10625031)
1999
14
Identification of acute intermittent porphyria carriers by molecular biologic methods. (10741873)
1999
15
Anesthetic management for a patient with acute intermittent porphyria treated with heme arginate. (14530952)
1999
16
Haem precursors and porphobilinogen deaminase in erythrocytes and lymphocytes of patients with acute intermittent porphyria. (9074786)
1997
17
King George III and acute porphyria. (9024414)
1997
18
Effects of new anticonvulsant medications on porphyrin synthesis in cultured liver cells: potential implications for patients with acute porphyria. (9222176)
1997
19
Encephalopathy due to hyponatraemia in acute intermittent porphyria. (9496283)
1997
20
Increased delta aminolevulinic acid and decreased pineal melatonin production. A common event in acute porphyria studies in the rat. (8550820)
1996
21
Acute intermittent porphyria--a diagnosis to consider. (7602744)
1995
22
Porphyria cutanea tarda and hepatitis C virus infection in a patient with acute liver failure. (7810135)
1994
23
Administration of the anesthetic isoflurane to mice: a model for acute intermittent porphyria? (1296823)
1992
24
Fluoxetine treatment of depressive symptoms in acute intermittent porphyria. (2005080)
1991
25
An epidemiologic study of acute intermittent porphyria in Maheshwari community of Sri-Dungargarh municipal area. (2380134)
1990
26
Elevation of hormone-binding globulins in acute intermittent porphyria. (2107988)
1990
27
A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria. (2789372)
1989
28
Cocaine and acute porphyria. (2890046)
1987
29
Carbamazepine-induced non-hereditary acute porphyria. (6134035)
1983
30
A rare association of acute intermittent porphyria with Crohn's disease. (6668275)
1983
31
Acute hepatic porphyria in Poland. (6123653)
1982
32
Intranuclear particles in the hepatocytes of patients with non-A, non-B hepatitis and acute intermittent porphyria. (6800872)
1982
33
Acute intermittent porphyria: a non-surgical cause of abdominal pain. (7104655)
1982
34
Acute porphyria amongst psychiatric patients. (22058565)
1981
35
Experience with the red cell uroporphyrinogen synthase (URO-S) assay in kindreds with acute intermittent porphyria (AIP). (7450137)
1980
36
Acute intermittent porphyria in an East African female. (7215256)
1980
37
Screening tests in acute porphyria. (911234)
1977
38
Hematin treatment of acute porphyria. Early remission of an almost fatal relapse. (946099)
1976
39
Intermittent acute porphyria: the enzymatic defect. (4280105)
1974
40
Intermittent acute porphyria. Clinical and biochemical studies of disordered heme biosynthesis. (4791052)
1973
41
Acute intermittent porphyria with intestinal perforation. (5679690)
1968
42
Acute porphyria and lead poisoning. (4159715)
1966
43
HAEMODIALYSIS IN ACUTE PORPHYRIA. (14079809)
1963
44
Glycine metabolism in acute porphyria. (13741260)
1961
45
Acute porphyria; two cases, one treated with ACTH. (13354439)
1956
46
Acute porphyria. III. The separation of preformed porphyrin and porphobilinogen in the urine in acute porphyria; a coproporphyrin chromogen in normal and pathological urine. (14854801)
1951
47
Acute porphyria; report of a case with post-mortem findings. (15405290)
1950
48
Acute porphyria, with report of two cases. (15396200)
1949
49
Acute porphyria; a case report with notes on four others. (18890634)
1948
50
Acute porphyria; report of a case. (18106820)
1948

Genetic Variations for Acute Porphyria

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Expression for genes affiliated with Acute Porphyria

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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

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37NCBI BioSystems Database, 49PharmGKB, 29KEGG, 53Reactome, 12EMD Millipore
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Compounds for genes affiliated with Acute Porphyria

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB
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Compounds related to Acute Porphyria according to GeneCards/GeneDecks:

(show top 50)    (show all 84)
idCompoundScoreTop Affiliating Genes
1uroporphyrin i4410.2ALAD, HMBS
2androstanol4410.0NR1I2, NR1I3
3ppix4410.0PPOX, HMBS, FECH
4hydroxymethylbilane44 2411.0FECH, PPOX, HMBS
5pregnanedione2810.0NR1I3, NR1I2
6androstenol449.9NR1I3, NR1I2
7pregnane449.9NR1I2, NR1I3
8dmes449.8NR1I3, NR1I2
9citco44 2810.8NR1I2, NR1I3
10pregnenolone 16alpha-carbonitrile449.7NR1I2, NR1I3
11nonylphenol449.7NR1I3, NR1I2
12uroporphyrin449.7HMBS, ALAD, CPOX
13fructose44 1110.5PCK2, ALAD, PC
14cholic acid44 28 11 2412.5LIPC, FECH, NR1I2
15malate449.4PCK2, PC, GLUL
16uroporphyrinogen-iii449.4CPOX, HMBS, PPOX, FECH
17alpha-ketoglutarate449.4GLUL, PCK2, PC
18phosphoenolpyruvate44 1110.4PCK2, PC, GLUL
19oxaloacetate449.3PCK2, PC
20protoporphyrin ix44 11 2411.1CPOX, ALAD, HMBS, PPOX, FECH
21glucose 6-phosphate44 2410.1PCK2, PC, GLUL
22phenobarbital44 28 1111.0ALAS1, NR1I3, NR1I2, HMBS
23glycerol44 11 2411.0LIPC, PCK2, PC, GLUL
24sterol449.0PCK2, LIPC, NR1I3, NR1I2
25magnesium44 11 2410.9PC, FECH, NR1I3, GLUL, ALAD
26dexamethasone44 49 28 1111.7PC, GLUL, PCK2, NR1I2, NR1I3
27protoporphyrinogen448.7PPOX, GLUL, HMBS, ALAD, CPOX, FECH
28glycogen44 249.6PCK2, GLUL, PC, LIPC
29haem448.6FECH, CPOX, HMBS, ALAS1, PPOX
30lactate448.6ALAD, GLUL, PC, PCK2, CPOX
31acetyl-coa44 249.5PCK2, PC, LIPC, ALAS1
32lead448.5CPOX, ALAD, GLUL, FECH, NR1I2, HMBS
33nitric oxide44 11 2410.5NR1I2, ALAD, HMBS, GLUL, FECH, CPOX
34ethanol44 49 11 2411.4GLUL, CPOX, ALAD, HMBS, LIPC, NR1I3
35arginine448.4NR1I3, HMBS, GLUL, LIPC, PPOX, CPOX
36fatty acid448.3CPOX, PC, NR1I2, LIPC, PCK2
37porphobilinogen44 11 2410.3ALAD, HMBS, PPOX, FECH, CPOX, ALAS1
38porphyrin448.3CPOX, ALAD, ALAS1, FECH, PPOX, HMBS
39formyl-coa44 249.3FECH, CPOX, ALAD, PPOX, HMBS, ALAS1
405-aminolevulinic acid44 249.3ALAD, CPOX, HMBS, FECH, ALAS1, PPOX
41heme28 11 2410.3FECH, PPOX, ALAS1, HMBS, ALAD, CPOX
42glutamate448.3NR1I3, CPOX, PCK2, PC, GLUL, PPOX
43cholesterol44 28 11 2411.0NR1I2, CPOX, GLUL, PCK2, LIPC, NR1I3
44superoxide44 248.9ALAD, PC, GLUL, LIPC, NR1I2, FECH
45iron44 248.9ALAS1, HMBS, GLUL, PPOX, CPOX, FECH
46glucose447.7CPOX, HMBS, PCK2, PC, GLUL, LIPC
47alanine447.5FECH, PC, PCK2, ALAS1, GLUL, CPOX
48atp44 288.4GLUL, LIPC, CPOX, NR1I2, PCK2, HMBS
49lipid447.3LIPC, ALAD, GLUL, PCK2, NR1I2, NR1I3
50oxygen44 248.1FECH, PPOX, CPOX, ALAS1, LIPC, NR1I3

GO Terms for genes affiliated with Acute Porphyria

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16Gene Ontology
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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:0060949.6PC, PCK2
2intracellular receptor signaling pathwayGO:0305229.4NR1I2, NR1I3
3protoporphyrinogen IX biosynthetic processGO:0067828.2PPOX, HMBS, ALAS1, ALAD, CPOX
4porphyrin-containing compound metabolic processGO:0067788.0PPOX, CPOX, ALAD, ALAS1, HMBS, FECH
5heme biosynthetic processGO:0067837.9ALAD, HMBS, PPOX, ALAS1, FECH, CPOX
6small molecule metabolic processGO:0442816.5HMBS, PCK2, PC, PPOX, GLUL, ALAS1

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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Sources for Acute Porphyria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet