MCID: ACT078
MIFTS: 52

Acute Porphyria malady

Genetic diseases, Metabolic diseases, Rare diseases, Blood diseases, Nephrological diseases, Skin diseases categories
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Summaries for Acute Porphyria

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

Aliases & Classifications for Acute Porphyria

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Acute Porphyria, Aliases & Descriptions:

Name: Acute Porphyria 8 10
Acute Intermittent Porphyria 62
 
Porphyrias, Hepatic 62
Hepatic Porphyria 8


Classifications:



External Ids:

Disease Ontology8 DOID:3133
SNOMED-CT57 55056006
MeSH34 D017094

Related Diseases for Acute Porphyria

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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 54)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria31.2ALAD, PPOX, HMBS, ALAS1, FECH, CPOX
2variegate porphyria30.2CPOX, FECH, ALAD, PPOX, HMBS
3acute intermittent porphyria30.1HMBS, PPOX, CPOX, FECH, ALAD
4erythropoietic protoporphyria30.1CPOX, PPOX, FECH
5porphyria cutanea tarda29.8PPOX, HMBS, CPOX, ALAD, FECH
6hereditary coproporphyria29.6CPOX, ALAD, HMBS, PPOX, FECH
7liver cancer29.6LIPC, NR1I2, NR1I3, GLUL
8breast cancer29.2NR1I2, CPOX, GLUL, HMBS, NR1I3
9acute hepatic porphyria10.8
10neuropathy10.3
11chester porphyria10.3
12hypertension10.3
13peripheral neuropathy10.3
14intrahepatic cholestasis10.2NR1I3, NR1I2
15hepatocellular carcinoma10.2
16focal epilepsy10.2
17hepatitis10.2
18hepatoerythropoietic porphyria10.1
19hepatitis c10.1
20status epilepticus10.1
21sea-blue histiocyte syndrome10.1
22typhoidal tularemia10.1
23infectious mononucleosis10.1
24tularemia10.1
25hepatitis c virus10.1
26harderoporphyria10.1
27deficiency anemia10.0ALAD, HMBS, FECH
28acute myocardial infarction10.0
29atherosclerosis10.0
30myocardial infarction10.0
31schizoaffective disorder10.0
32cerebral atherosclerosis10.0
33cerebritis10.0
34brucellosis10.0
35constipation10.0
36hyperthyroidism10.0
37meningitis10.0
38myocarditis10.0
39pericarditis10.0
40polyneuropathy10.0
41binswanger's disease10.0
42pyridoxine deficiency10.0
43lead poisoning10.0
44reye syndrome10.0GLUL, PC
45cholestasis10.0LIPC, NR1I2, NR1I3
46uremia10.0ALAD, LIPC, NR1I3
47galactosemia10.0GLUL, CPOX, FECH
48hyperammonemia multi-gene panels9.9GLUL, PC
49metabolic acidosis9.9PC, GLUL
50chronic kidney failure9.9NR1I3, ALAD, LIPC

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



Diseases related to acute porphyria

Symptoms for Acute Porphyria

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Drugs & Therapeutics for Acute Porphyria

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Drug clinical trials:

Search ClinicalTrials for Acute Porphyria

Search NIH Clinical Center for Acute Porphyria

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Acute Porphyria

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Anatomical Context for Acute Porphyria

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MalaCards organs/tissues related to Acute Porphyria:

32
Liver, Testes, Bone marrow, Bone, Brain, Globus pallidus, Pineal

Animal Models for Acute Porphyria or affiliated genes

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Publications for Acute Porphyria

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Articles related to Acute Porphyria:

(show top 50)    (show all 251)
idTitleAuthorsYear
1
How porphyrinogenic drugs modeling acute porphyria impair the hormonal status that regulates glucose metabolism. Their relevance in the onset of this disease. (21889565)
2011
2
Thomas Wakley, King George III and acute porphyria. (19966121)
2009
3
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
4
Treatment of acute porphyria. (11480131)
2001
5
Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. (10207164)
1999
6
Acute porphyria: the cost of suspicion. (10625031)
1999
7
Identification of acute porphyria: evaluation of a commercial screening test for urinary porphobilinogen. (9838985)
1998
8
Primary liver cancer in two sisters in Holland with intermittent acute porphyria. (9254746)
1997
9
Drug treatment in acute porphyria. (9384458)
1997
10
Markers for vulnerability in acute porphyria. A hypothesis paper. (7626691)
1995
11
Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. (1549056)
1992
12
Liver transplantation in a boy with acute porphyria due to aminolaevulinate dehydratase deficiency. (1493152)
1992
13
Acute porphyria in the emergency department. (2663971)
1989
14
Pathogenesis of acute porphyria. (3310073)
1987
15
Chester porphyria: biochemical studies of a new form of acute porphyria. (2864531)
1985
16
Carbamazepine-induced acute porphyria syndrome. (6143958)
1984
17
Porphobilinogen-synthase (delta-aminolevulinic acid dehydratase) deficiency in bone marrow cells of two patients with porphobilinogen-synthase defect acute porphyria. (6887758)
1983
18
Superoxide dismutase, glutathione peroxidase, and catalase activities in the erythrocytes of patients with intermittent acute porphyria. (7055922)
1982
19
International review of drugs in acute porphyria--1980. (7004930)
1980
20
Catecholamine uptake, accumulation, and release in acute porphyria. (908757)
1977
21
Pathogenesis of neural manifestations in acute porphyria. (870989)
1977
22
Haemodialysis in acute porphyria. (4443572)
1974
23
On the apparent existence of GA1nther's haematoporphyria acuta toxica and acquired acute porphyria. (5150266)
1971
24
Simple and rapid screening for acute porphyria--'porphobilistix' and Hoesch test. (5150285)
1971
25
EEG findings in acute porphyria. (4194629)
1970
26
Acute porphyria in a hyperthyroid patient. (4185515)
1969
27
Abnormalities of the porphyrin metabolism in relatives of patients with acute porphyria. (5925932)
1966
28
DIFFUSE DEGENERATION OF CEREBRAL WHITE MATTER RESEMBLING SOCALLED BINSWANGER'S DISEASE AND SYMMETRICAL NECROSIS OF THE GLOBUS PALLIDUS ASSOCIATED WITH ACUTE PORPHYRIA AND CEREBRAL ATHEROSCLEROSIS. (14063325)
1963
29
Neurological manifestations of acute porphyria. (13599001)
1958
30
An unusual case of acute porphyria with volvulus and gangrene of the cecum. (13424560)
1957
31
Acute porphyria; with observations on liver lesions and on porphobilinogenuria. (13415743)
1957
32
Acute porphyria. (13428299)
1957
33
The neuropathology of acute porphyria. (13398893)
1956
34
Acute porphyria. (13318769)
1956
35
Porphobilinogen and delta-amino levulinic acid in acute porphyria. (14357411)
1955
36
Pathology of acute porphyria; experimental porphyria in animals. (13159971)
1954
37
Fate of porphobilinogen in the rat: relation to acute porphyria in man. (13175489)
1954
38
The prognosis of acute porphyria. (13042263)
1953
39
Acute porphyria; report of two cases of the idiopathic type. (13018360)
1952
40
Acute porphyria; experimental treatment with A.C.T.H. (12997682)
1952
41
Acute porphyria; a study of six cases. (13008905)
1952
42
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
43
A case of acute porphyria. (14890271)
1951
44
Acute porphyria in a Negro. (15439634)
1950
45
A Case of Acute Porphyria: Remissions Induced with Procaine Intravenously. (18731690)
1950
46
A note on the urinary uroporphyrin in acute porphyria. (16748651)
1950
47
SODIUM AND CHLORIDE DEPLETION IN ACUTE PORPHYRIA WITH REFERENCE TO THE STATUS OF ADRENAL CORTICAL FUNCTION. (16695727)
1949
48
Acute porphyria. (20344665)
1947
49
Diagnosis of acute porphyria. (21017513)
1946
50
Acute porphyria with changes in the coeliac ganglion and prominent abdominal symptoms. (21021816)
1945

Variations for Acute Porphyria

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Clinvar genetic disease variations for Acute Porphyria:

6 (show all 26)
id Gene Name Type Significance SNP ID Assembly Location
1HMBSNM_000190.3(HMBS): c.77G> A (p.Arg26His)single nucleotide variantPathogenicrs118204103GRCh37Chr 11, 118959008: 118959008
2HMBSNM_000190.3(HMBS): c.346C> T (p.Arg116Trp)single nucleotide variantPathogenicrs118204094GRCh37Chr 11, 118960701: 118960701
3HMBSNM_000190.3(HMBS): c.500G> A (p.Arg167Gln)single nucleotide variantPathogenicrs118204095GRCh37Chr 11, 118962124: 118962124
4HMBSNM_000190.3(HMBS): c.518G> A (p.Arg173Gln)single nucleotide variantPathogenicrs118204096GRCh37Chr 11, 118962142: 118962142
5HMBSNM_000190.3(HMBS): c.463C> T (p.Gln155Ter)single nucleotide variantPathogenicrs118204097GRCh37Chr 11, 118960940: 118960940
6HMBSNM_000190.3(HMBS): c.446G> A (p.Arg149Gln)single nucleotide variantPathogenicrs118204098GRCh37Chr 11, 118960923: 118960923
7HMBSNM_000190.3(HMBS): c.734T> G (p.Leu245Arg)single nucleotide variantPathogenicrs118204099GRCh37Chr 11, 118963196: 118963196
8HMBSNM_000190.3(HMBS): c.593G> A (p.Trp198Ter)single nucleotide variantPathogenicrs118204100GRCh37Chr 11, 118962217: 118962217
9HMBSNM_000190.3(HMBS): c.91G> A (p.Ala31Thr)single nucleotide variantPathogenicrs118204104GRCh37Chr 11, 118959348: 118959348
10HMBSNM_000190.3(HMBS): c.100C> A (p.Gln34Lys)single nucleotide variantPathogenicrs118204105GRCh37Chr 11, 118959357: 118959357
11HMBSNM_000190.3(HMBS): c.499C> T (p.Arg167Trp)single nucleotide variantPathogenicrs118204101GRCh37Chr 11, 118962123: 118962123
12HMBSNM_000190.3(HMBS): c.500G> T (p.Arg167Leu)single nucleotide variantPathogenicrs118204095GRCh37Chr 11, 118962124: 118962124
13HMBSNM_000190.3(HMBS): c.163G> T (p.Ala55Ser)single nucleotide variantPathogenicrs118204106GRCh37Chr 11, 118959794: 118959794
14HMBSNM_000190.3(HMBS): c.601C> T (p.Arg201Trp)single nucleotide variantPathogenicrs118204109GRCh37Chr 11, 118962225: 118962225
15HMBSNM_000190.3(HMBS): c.331G> A (p.Gly111Arg)single nucleotide variantPathogenicrs118204107GRCh37Chr 11, 118960457: 118960457
16HMBSNM_000190.3(HMBS): c.530T> G (p.Leu177Arg)single nucleotide variantPathogenicrs118204108GRCh37Chr 11, 118962154: 118962154
17HMBSNM_000190.3(HMBS): c.667G> A (p.Glu223Lys)single nucleotide variantPathogenicrs118204110GRCh37Chr 11, 118963129: 118963129
18HMBSNM_000190.3(HMBS): c.739T> C (p.Cys247Arg)single nucleotide variantPathogenicrs118204111GRCh37Chr 11, 118963201: 118963201
19HMBSNM_000190.3(HMBS): c.748G> A (p.Glu250Lys)single nucleotide variantPathogenicrs118204112GRCh37Chr 11, 118963210: 118963210
20HMBSNM_000190.3(HMBS): c.754G> A (p.Ala252Thr)single nucleotide variantPathogenicrs118204113GRCh37Chr 11, 118963216: 118963216
21HMBSNM_000190.3(HMBS): c.755C> T (p.Ala252Val)single nucleotide variantPathogenicrs118204114GRCh37Chr 11, 118963217: 118963217
22HMBSNM_000190.3(HMBS): c.766C> A (p.His256Asn)single nucleotide variantPathogenicrs118204115GRCh37Chr 11, 118963228: 118963228
23HMBSNM_000190.3(HMBS): c.647G> A (p.Gly216Asp)single nucleotide variantPathogenicrs118204116GRCh37Chr 11, 118962869: 118962869
24HMBSNM_000190.3(HMBS): c.849G> A (p.Trp283Ter)single nucleotide variantPathogenicrs118204117GRCh37Chr 11, 118963668: 118963668
25HMBSNM_000190.3(HMBS): c.242T> C (p.Leu81Pro)single nucleotide variantPathogenicrs118204119GRCh37Chr 11, 118959958: 118959958
26HMBSNM_000190.3(HMBS): c.445C> T (p.Arg149Ter)single nucleotide variantPathogenicrs118204120GRCh37Chr 11, 118960922: 118960922

Expression for genes affiliated with Acute Porphyria

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Expression patterns in normal tissues for genes affiliated with Acute Porphyria

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Pathways for genes affiliated with Acute Porphyria

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Pathways related to Acute Porphyria according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8NR1I3, NR1I2
29.8NR1I3, NR1I2
3
Show member pathways
Nuclear Receptors37
9.8NR1I2, NR1I3
49.8NR1I2, NR1I3
59.5NR1I2, NR1I3, GLUL
6
Show member pathways
methylglyoxal degradation VI37
methylglyoxal degradation I37
9.4PCK2, PC
7
Show member pathways
tetrapyrrole biosynthesis37
heme degradation37
Heme Biosynthesis37
heme biosynthesis37
heme biosynthesis from uroporphyrinogen-III I37
7.9CPOX, FECH, ALAS1, ALAD, HMBS, PPOX
8
Show member pathways
5.9ALAD, HMBS, LIPC, ALAS1, PCK2, PC

Compounds for genes affiliated with Acute Porphyria

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Sources:
44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank, 50PharmGKB
See all sources

Compounds related to Acute Porphyria according to GeneCards/GeneDecks:

(show top 50)    (show all 96)
idCompoundScoreTop Affiliating Genes
1androstanol4410.1NR1I3, NR1I2
2pregnanedione2810.1NR1I2, NR1I3
3Protoporphyrinogen IX2410.0CPOX, PPOX
4uroporphyrin i4410.0HMBS, ALAD
5hydroxymethylbilane44 2411.0FECH, PPOX, HMBS
6ppix4410.0HMBS, FECH, PPOX
7androstenol4410.0NR1I2, NR1I3
8pregnane449.9NR1I3, NR1I2
9dmes449.8NR1I3, NR1I2
10uroporphyrin449.7CPOX, HMBS, ALAD
11uroporphyrinogen-iii449.6HMBS, FECH, CPOX, PPOX
12citco44 2810.5NR1I2, NR1I3
13cholic acid44 28 24 1112.4FECH, NR1I2, LIPC
14malate449.3PCK2, PC, GLUL
15alpha-ketoglutarate449.3PC, PCK2, GLUL
16fructose44 1110.3PCK2, PC, ALAD
17phosphoenolpyruvate44 1110.3GLUL, PCK2, PC
18protoporphyrin ix44 24 1111.2HMBS, FECH, CPOX, PPOX, ALAD
19phenobarbital44 28 50 1112.1HMBS, NR1I2, ALAS1, NR1I3
20sterol449.0NR1I2, LIPC, NR1I3, PCK2
21glucose 6-phosphate44 2410.0PCK2, PC, GLUL
22magnesium44 24 1110.9PC, FECH, ALAD, NR1I3, GLUL
23protoporphyrinogen448.8GLUL, HMBS, PPOX, CPOX, FECH, ALAD
24glycerol44 24 1110.8PC, GLUL, PCK2, LIPC
25haem448.7PPOX, CPOX, ALAS1, HMBS, FECH
26lead448.7CPOX, FECH, ALAD, NR1I2, HMBS, GLUL
27nitric oxide44 24 1110.7ALAD, HMBS, CPOX, FECH, NR1I2, GLUL
28arginine448.6GLUL, PPOX, LIPC, HMBS, NR1I3, CPOX
29lactate448.6PCK2, GLUL, CPOX, ALAD, PC
30glycogen44 249.5GLUL, PCK2, PC, LIPC
31ethanol44 50 24 1111.5CPOX, LIPC, NR1I3, ALAD, HMBS, GLUL
32glutamate448.4PPOX, CPOX, PC, PCK2, NR1I3, GLUL
33porphobilinogen44 24 1110.3CPOX, HMBS, ALAD, ALAS1, FECH, PPOX
34porphyrin448.3FECH, ALAS1, ALAD, HMBS, CPOX, PPOX
35dexamethasone44 50 28 1111.3GLUL, CPOX, NR1I3, NR1I2, PC, PCK2
36formyl-coa44 249.3ALAD, HMBS, ALAS1, FECH, CPOX, PPOX
375-aminolevulinic acid44 249.3PPOX, CPOX, FECH, ALAD, ALAS1, HMBS
38fatty acid448.3PCK2, PC, LIPC, CPOX, NR1I2
39heme28 24 1110.3HMBS, PPOX, CPOX, ALAS1, ALAD, FECH
40acetyl-coa44 249.3PC, LIPC, PCK2, ALAS1
41serine448.3FECH, LIPC, NR1I2, NR1I3, HMBS, GLUL
42cholesterol44 28 24 1111.3PCK2, CPOX, LIPC, NR1I3, GLUL, NR1I2
43cycloheximide448.1PCK2, ALAS1, NR1I2, HMBS, GLUL, CPOX
44iron44 249.0ALAS1, FECH, CPOX, PPOX, GLUL, HMBS
45superoxide44 248.8PC, CPOX, FECH, ALAD, LIPC, NR1I2
46glucose447.8PC, PCK2, NR1I2, CPOX, GLUL, LIPC
47alanine447.6CPOX, PCK2, GLUL, ALAS1, PC, FECH
48atp44 288.4GLUL, CPOX, LIPC, PC, ALAD, NR1I2
49oxygen44 248.4FECH, GLUL, NR1I2, PPOX, CPOX, LIPC
50lipid447.4NR1I3, CPOX, LIPC, PC, GLUL, NR1I2

GO Terms for genes affiliated with Acute Porphyria

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial intermembrane spaceGO:0057589.7CPOX, PPOX
2mitochondrial inner membraneGO:0057438.9PC, FECH, CPOX
3mitochondrial matrixGO:0057598.3FECH, PC, PCK2, ALAS1
4mitochondrionGO:0057397.7GLUL, CPOX, PC, PCK2, ALAS1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1response to insecticideGO:0170859.9CPOX, FECH
2response to methylmercuryGO:0515979.9FECH, CPOX
3response to arsenic-containing substanceGO:0466859.8CPOX, FECH
4response to lead ionGO:0102889.8FECH, CPOX
5intracellular receptor signaling pathwayGO:0305229.7NR1I2, NR1I3
6oxaloacetate metabolic processGO:0061079.6PCK2, PC
7pyruvate metabolic processGO:0060909.4PCK2, PC
8gluconeogenesisGO:0060949.4PCK2, PC
9positive regulation of insulin secretionGO:0320249.3GLUL, PCK2
10protoporphyrinogen IX biosynthetic processGO:0067828.5PPOX, CPOX, ALAS1, ALAD, HMBS
11porphyrin-containing compound metabolic processGO:0067788.2HMBS, PPOX, CPOX, FECH, ALAS1, ALAD
12heme biosynthetic processGO:0067838.2PPOX, CPOX, FECH, ALAS1, ALAD, HMBS
13small molecule metabolic processGO:0442816.7PPOX, CPOX, FECH, PC, PCK2, 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:0048799.8NR1I3, NR1I2

Products for genes affiliated with Acute Porphyria

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet