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 Carbamazepine Pathway, Pharmacokinetics. 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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Sources:
60UMLS, 8Disease Ontology, 10DISEASES, 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
A novel G168X mutation and a recurrent 730-731delCT mutation of the porphobilinogen deaminase gene in Japanese patients with acute intermittent porphyria. (23582379)
2013
2
An atypical case of Guillain-BarrAc syndrome: acute intermittent porphyria. (22273750)
2012
3
Combined liver and kidney transplantation in acute intermittent porphyria. (20028496)
2010
4
Porphyrin precursors and porphyrins in three patients with acute intermittent porphyria and end-stage renal disease under different therapy regimes. (19268004)
2009
5
Treatment and treatment considerations in a patient with advanced breast cancer and acute intermittent porphyria. (16644579)
2006
6
Open-label study of hemin for acute porphyria: clinical practice implications. (16945618)
2006
7
Abdominal pain due to acute intermittent porphyria: when is the sound of hoof-beats not horses, but zebras? A case report. (16721183)
2006
8
An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. (15643299)
2005
9
Nine mutations including three novel mutations among Russian patients with acute intermittent porphyria. (16211556)
2005
10
Use of gonadotropin-releasing hormone analog with tibolone to prevent cyclic attacks of acute intermittent porphyria. (11555826)
2001
11
Women's experience of suffering repeated severe attacks of acute intermittent porphyria. (11136402)
2000
12
Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453- 455delAGC) and one splicing acceptor site mutation (IVS8-1G>T). (10502788)
1999
13
Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France. (9350165)
1997
14
Family study of acute intermittent porphyria and hereditary coproporphyria in Niigata and Akita Prefectures, Japan. (8826991)
1996
15
Assessment of autonomic nerve function in acute intermittent porphyria; a study based on spectral analysis of heart rate variability. (8810932)
1996
16
Mortality in patients with acute intermittent porphyria requiring hospitalization: a United States case series. (8923933)
1996
17
A point mutation, C to T, in exon 8 of the porphobilinogen deaminase gene in a Japanese family with acute intermittent porphyria. (7663002)
1995
18
Transient cortical blindness and bioccipital brain lesions in two patients with acute intermittent porphyria. (7677301)
1995
19
Safe use of haloperidol in acute intermittent porphyria. (7756725)
1995
20
Caring for patients with acute intermittent porphyria. (7767795)
1994
21
Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation. (8168829)
1994
22
Repression of ALA synthase by heme and zinc-mesoporphyrin in a chick embryo liver cell culture model of acute porphyria. (7957494)
1994
23
Tin protoporphyrin prolongs the biochemical remission produced by heme arginate in acute hepatic porphyria. (8335204)
1993
24
High frequency of mutations in exon 10 of the porphobilinogen deaminase gene in patients with a CRIM-positive subtype of acute intermittent porphyria. (1496994)
1992
25
Porphyria cutanea tarda associated with acute non-lymphoblastic leukemia. (1609784)
1992
26
Acute intermittent porphyria and epilepsy: safety of clonazepam. (1733741)
1992
27
MRI reveals multiple reversible cerebral lesions in an attack of acute intermittent porphyria. (1866023)
1991
28
Anesthesia for aortic valve replacement in a patient with acute intermittent porphyria. (1830820)
1991
29
Experimental latent and acute porphyria in the non-fasted rat; preventive effect of propranolol. (1806982)
1991
30
Acute intermittent porphyria in Bikaner. (1760014)
1991
31
Acute scleritis in porphyria cutanea tarda. (2330942)
1990
32
Elevation of blood lactate and pyruvate levels in acute intermittent porphyria--a reflection of haem deficiency? (2253395)
1990
33
Acute intermittent porphyria in pregnancy. (2915870)
1989
34
Determination of erythrocyte hydroxymethylbilane synthase activity and its application for study of acute intermittent porphyria. (3235962)
1988
35
Effect of haem arginate therapy on porphyrin metabolism and mixed function oxygenase activity in acute hepatic porphyria. (2890809)
1987
36
Acute intermittent porphyria: report of a case. (3598554)
1987
37
Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate. (3897290)
1985
38
Haemoperfusion in acute intermittent porphyria. (6426602)
1984
39
Cardiac dysautonomia in acute intermittent porphyria. (6654414)
1983
40
Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities. (7120315)
1982
41
Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria. (7258864)
1981
42
Optic atrophy in acute intermittent porphyria. (434076)
1979
43
An epidemiologic approach to acute intermittent porphyria in Bikaner. (546833)
1979
44
Porphyrin precursors in acute porphyria. (653477)
1978
45
Acute porphyria in a hyperthyroid patient. (4185515)
1969
46
Acute porphyria in American Negro. (5245674)
1968
47
Acute porphyria; report of two cases. (14913377)
1952
48
A case of acute porphyria. (14890271)
1951
49
Acute porphyria and associated electrolyte changes. (18126762)
1949
50
A case of acute porphyria. (18858438)
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:0060949.6PCK2, 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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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