MCID: ACT078
MIFTS: 49

Acute Porphyria malady

Genetic diseases, Rare diseases, Blood diseases, Metabolic diseases categories

Summaries for Acute Porphyria

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Disease Ontology:9 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 acute intermittent porphyria, is related to porphyria and protoporphyria, erythropoietic, autosomal recessive, 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 are Drug Induction of Bile Acid Pathway and Nuclear receptors in lipid metabolism and toxicity. The drugs chlorpromazine and hemin and the compounds pregnanedione and androstanol 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 9 11
Acute Intermittent Porphyria 60
 
Porphyrias, Hepatic 60
Hepatic Porphyria 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Blood diseases


External Ids:

Disease Ontology9 DOID:3133
SNOMED-CT55 55056006
MeSH33 D017094

Related Diseases for Acute Porphyria

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Diseases in the Porphyria family:

acute porphyria Congenital Porphyria
Urod-Related Porphyrias

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

(show all 47)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria31.2PPOX, CPOX, FECH, HMBS, ALAD, ALAS1
2protoporphyria, erythropoietic, autosomal recessive30.1PPOX, CPOX, FECH
3porphyria, acute intermittent30.0PPOX, CPOX, FECH, ALAD, HMBS
4porphyria cutanea tarda29.9PPOX, CPOX, FECH, ALAD, HMBS
5porphyria variegata29.9PPOX, CPOX, FECH, ALAD, HMBS
6hepatocellular carcinoma29.8LIPC, NR1I2, NR1I3, GLUL
7coproporphyria29.6HMBS, ALAD, FECH, CPOX, PPOX
8breast cancer29.2CPOX, NR1I2, NR1I3, HMBS, GLUL
9neuropathy10.3
10chester porphyria10.3
11porphyria, acute hepatic10.3
12peripheral neuropathy10.3
13focal epilepsy10.2
14intrahepatic cholestasis10.2NR1I2, NR1I3
15hepatitis10.2
16hepatitis c virus10.1
17hepatitis c10.1
18status epilepticus10.1
19typhoidal tularemia10.1
20tularemia10.1
21myocardial infarction10.0
22acute myocardial infarction10.0
23atherosclerosis10.0
24cerebral atherosclerosis10.0
25cerebritis10.0
26brucellosis10.0
27constipation10.0
28hyperthyroidism10.0
29meningitis10.0
30myocarditis10.0
31pericarditis10.0
32polyneuropathy10.0
33binswanger's disease10.0
34chiari malformation10.0
35pyridoxine deficiency10.0
36deficiency anemia10.0HMBS, ALAD, FECH
37reye syndrome10.0GLUL, PC
38cholestasis10.0LIPC, NR1I2, NR1I3
39uremia10.0NR1I3, ALAD, LIPC
40galactosemia10.0CPOX, FECH, GLUL
41hyperammonemia multi-gene panels9.9GLUL, PC
42metabolic acidosis9.9GLUL, PC
43chronic kidney failure9.9NR1I3, ALAD, LIPC
44lactic acidosis9.9CPOX, PC
45porphyria, congenital erythropoietic9.8HMBS, ALAD, FECH, CPOX
46metabolic syndrome x9.7HMBS, NR1I3, PC, FECH, PPOX
47fatty liver disease9.5NR1I3, NR1I2, PCK2, PC, 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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Symptoms:

 9
  • abdominal pain
  • neuropathy
  • autonomic instability
  • psychosis

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 UMLS60/NDF-RT39:

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:

31
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 259)
idTitleAuthorsYear
1
Acute porphyria precipitated by efavirenz. (25909830)
2015
2
Acute porphyria in a patient with Arnold Chiari malformation. (25697467)
2015
3
How porphyrinogenic drugs modeling acute porphyria impair the hormonal status that regulates glucose metabolism. Their relevance in the onset of this disease. (21889565)
2011
4
Thomas Wakley, King George III and acute porphyria. (19966121)
2009
5
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
6
Treatment of acute porphyria. (11480131)
2001
7
Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. (10207164)
1999
8
Acute porphyria: the cost of suspicion. (10625031)
1999
9
Identification of acute porphyria: evaluation of a commercial screening test for urinary porphobilinogen. (9838985)
1998
10
Primary liver cancer in two sisters in Holland with intermittent acute porphyria. (9254746)
1997
11
Drug treatment in acute porphyria. (9384458)
1997
12
Markers for vulnerability in acute porphyria. A hypothesis paper. (7626691)
1995
13
Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. (1549056)
1992
14
Acute porphyria in the emergency department. (2663971)
1989
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
International review of drugs in acute porphyria--1980. (7004930)
1980
19
Catecholamine uptake, accumulation, and release in acute porphyria. (908757)
1977
20
Pathogenesis of neural manifestations in acute porphyria. (870989)
1977
21
Haemodialysis in acute porphyria. (4443572)
1974
22
On the apparent existence of GA1nther's haematoporphyria acuta toxica and acquired acute porphyria. (5150266)
1971
23
Simple and rapid screening for acute porphyria--'porphobilistix' and Hoesch test. (5150285)
1971
24
EEG findings in acute porphyria. (4194629)
1970
25
Acute porphyria in a hyperthyroid patient. (4185515)
1969
26
Abnormalities of the porphyrin metabolism in relatives of patients with acute porphyria. (5925932)
1966
27
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
28
Neurological manifestations of acute porphyria. (13599001)
1958
29
An unusual case of acute porphyria with volvulus and gangrene of the cecum. (13424560)
1957
30
Acute porphyria; with observations on liver lesions and on porphobilinogenuria. (13415743)
1957
31
Acute porphyria. (13428299)
1957
32
The neuropathology of acute porphyria. (13398893)
1956
33
Acute porphyria. (13318769)
1956
34
Porphobilinogen and delta-amino levulinic acid in acute porphyria. (14357411)
1955
35
Pathology of acute porphyria; experimental porphyria in animals. (13159971)
1954
36
Fate of porphobilinogen in the rat: relation to acute porphyria in man. (13175489)
1954
37
The prognosis of acute porphyria. (13042263)
1953
38
Intermittent acute porphyria. (13052063)
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 Variation 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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Search GEO for disease gene expression data for Acute Porphyria.

Pathways for genes affiliated with Acute Porphyria

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Pathways related to Acute Porphyria according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8NR1I3, NR1I2
29.8NR1I3, NR1I2
3
Show member pathways
Nuclear Receptors36
9.8NR1I2, NR1I3
49.8NR1I2, NR1I3
5
Show member pathways
methylglyoxal degradation VI36
methylglyoxal degradation I36
9.4PCK2, PC
6
Show member pathways
tetrapyrrole biosynthesis36
heme degradation36
Heme Biosynthesis36
heme biosynthesis36
heme biosynthesis from uroporphyrinogen-III I36
7.9CPOX, FECH, ALAS1, ALAD, HMBS, PPOX
7
Show member pathways
5.9ALAD, HMBS, LIPC, ALAS1, PCK2, PC

Compounds for genes affiliated with Acute Porphyria

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Sources:
28IUPHAR, 43Novoseek, 24HMDB, 12DrugBank, 49PharmGKB
See all sources

Compounds related to Acute Porphyria according to GeneCards Suite gene sharing:

(show top 50)    (show all 96)
idCompoundScoreTop Affiliating Genes
1pregnanedione2810.1NR1I2, NR1I3
2androstanol4310.1NR1I2, NR1I3
3Protoporphyrinogen IX2410.0PPOX, CPOX
4uroporphyrin i4310.0HMBS, ALAD
5ppix4310.0PPOX, FECH, HMBS
6hydroxymethylbilane43 2411.0PPOX, FECH, HMBS
7androstenol4310.0NR1I3, NR1I2
8pregnane439.9NR1I2, NR1I3
9dmes439.8NR1I3, NR1I2
10uroporphyrin439.7HMBS, ALAD, CPOX
11uroporphyrinogen-iii439.6PPOX, CPOX, FECH, HMBS
12citco43 2810.5NR1I3, NR1I2
13cholic acid43 28 24 1212.4NR1I2, LIPC, FECH
14malate439.3GLUL, PCK2, PC
15alpha-ketoglutarate439.3PC, PCK2, GLUL
16fructose43 1210.3PC, PCK2, ALAD
17phosphoenolpyruvate43 1210.3GLUL, PCK2, PC
18protoporphyrin ix43 24 1211.2PPOX, CPOX, FECH, ALAD, HMBS
19phenobarbital43 28 49 1212.1ALAS1, NR1I2, NR1I3, HMBS
20sterol439.0LIPC, PCK2, NR1I2, NR1I3
21glucose 6-phosphate43 2410.0PC, PCK2, GLUL
22magnesium43 24 1210.9FECH, PC, ALAD, NR1I3, GLUL
23protoporphyrinogen438.8ALAD, FECH, CPOX, PPOX, HMBS, GLUL
24glycerol43 24 1210.8LIPC, PC, PCK2, GLUL
25haem438.7PPOX, CPOX, FECH, ALAS1, HMBS
26lead438.7CPOX, FECH, ALAD, NR1I2, HMBS, GLUL
27nitric oxide43 24 1210.7CPOX, FECH, ALAD, NR1I2, HMBS, GLUL
28arginine438.6PPOX, CPOX, LIPC, NR1I3, HMBS, GLUL
29lactate438.6GLUL, ALAD, PCK2, PC, CPOX
30glycogen43 249.5GLUL, PCK2, PC, LIPC
31ethanol43 49 24 1211.5CPOX, LIPC, ALAD, NR1I3, HMBS, GLUL
32glutamate438.4PPOX, CPOX, PC, PCK2, NR1I3, GLUL
33porphyrin438.3HMBS, ALAD, ALAS1, FECH, CPOX, PPOX
34dexamethasone43 49 28 1211.3CPOX, PC, PCK2, NR1I2, NR1I3, GLUL
35formyl-coa43 249.3HMBS, ALAD, ALAS1, FECH, CPOX, PPOX
36porphobilinogen43 24 1210.3PPOX, HMBS, ALAD, ALAS1, FECH, CPOX
375-aminolevulinic acid43 249.3PPOX, CPOX, FECH, ALAS1, ALAD, HMBS
38fatty acid438.3CPOX, LIPC, PC, PCK2, NR1I2
39heme28 24 1210.3PPOX, CPOX, FECH, ALAS1, ALAD, HMBS
40acetyl-coa43 249.3ALAS1, PCK2, PC, LIPC
41serine438.3FECH, LIPC, NR1I2, NR1I3, HMBS, GLUL
42cholesterol43 28 24 1211.3CPOX, LIPC, PCK2, NR1I2, NR1I3, GLUL
43cycloheximide438.1CPOX, PCK2, ALAS1, NR1I2, HMBS, GLUL
44iron43 249.0PPOX, CPOX, FECH, ALAS1, ALAD, HMBS
45superoxide43 248.8CPOX, FECH, LIPC, PC, ALAD, NR1I2
46glucose437.8CPOX, LIPC, PC, PCK2, NR1I2, HMBS
47alanine437.6CPOX, FECH, PC, PCK2, ALAS1, NR1I3
48atp43 288.4CPOX, LIPC, PC, PCK2, ALAD, NR1I2
49oxygen43 248.4PPOX, CPOX, FECH, LIPC, ALAS1, NR1I2
50lipid437.4CPOX, LIPC, PC, PCK2, ALAD, NR1I2

GO Terms for genes affiliated with Acute Porphyria

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Cellular components related to Acute Porphyria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial intermembrane spaceGO:00057589.7CPOX, PPOX
2mitochondrial inner membraneGO:00057438.9PC, FECH, CPOX
3mitochondrial matrixGO:00057598.3FECH, PC, PCK2, ALAS1
4mitochondrionGO:00057397.7GLUL, CPOX, PC, PCK2, ALAS1

Biological processes related to Acute Porphyria according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1response to insecticideGO:00170859.9CPOX, FECH
2response to methylmercuryGO:00515979.9FECH, CPOX
3response to arsenic-containing substanceGO:00466859.8CPOX, FECH
4response to lead ionGO:00102889.8FECH, CPOX
5intracellular receptor signaling pathwayGO:00305229.7NR1I2, NR1I3
6oxaloacetate metabolic processGO:00061079.6PCK2, PC
7pyruvate metabolic processGO:00060909.4PCK2, PC
8gluconeogenesisGO:00060949.4PCK2, PC
9positive regulation of insulin secretionGO:00320249.3GLUL, PCK2
10protoporphyrinogen IX biosynthetic processGO:00067828.5PPOX, CPOX, ALAS1, ALAD, HMBS
11porphyrin-containing compound metabolic processGO:00067788.2HMBS, PPOX, CPOX, FECH, ALAS1, ALAD
12heme biosynthetic processGO:00067838.2PPOX, CPOX, FECH, ALAS1, ALAD, HMBS
13small molecule metabolic processGO:00442816.7PPOX, CPOX, FECH, PC, PCK2, ALAS1

Molecular functions related to Acute Porphyria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:00048799.8NR1I3, NR1I2

Products for genes affiliated with Acute Porphyria

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Acute Porphyria

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet