MCID: ACT078
MIFTS: 51

Acute Porphyria malady

Genetic diseases, Rare diseases, Blood diseases, Nephrological diseases, Skin diseases categories
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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 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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8Disease Ontology, 10DISEASES, 62UMLS, 35MeSH, 58SNOMED-CT
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Classifications:



Aliases & Descriptions:

acute porphyria 8 10
acute intermittent porphyria 62
porphyrias, hepatic 62
hepatic porphyria 8


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Disease Ontology8 DOID:3133
SNOMED-CT58 55056006
MeSH35 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 51)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria31.7ALAD, PPOX, HMBS, ALAS1, FECH, CPOX
2variegate porphyria30.5CPOX, FECH, ALAD, PPOX, HMBS
3acute intermittent porphyria30.4HMBS, PPOX, CPOX, FECH, ALAD
4hepatocellular carcinoma30.2LIPC, NR1I2, NR1I3, GLUL
5porphyria cutanea tarda30.1PPOX, HMBS, CPOX, ALAD, FECH
6erythropoietic protoporphyria30.0CPOX, PPOX, FECH
7hereditary coproporphyria29.9CPOX, ALAD, HMBS, PPOX, FECH
8breast cancer29.9NR1I2, CPOX, GLUL, HMBS, NR1I3
9acute hepatic porphyria10.8
10chronic hepatic porphyria10.6
11neuropathy10.3
12chester porphyria10.3
13hypertension10.2
14peripheral neuropathy10.2
15focal epilepsy10.2
16hepatitis10.2
17intrahepatic cholestasis10.0NR1I3, NR1I2
18status epilepticus10.0
19infectious mononucleosis10.0
20hepatoerythropoietic porphyria10.0
21sea-blue histiocyte syndrome10.0
22typhoidal tularemia10.0
23tularemia10.0
24harderoporphyria10.0
25schizoaffective disorder10.0
26cerebral atherosclerosis10.0
27cerebritis10.0
28acute myocardial infarction10.0
29atherosclerosis10.0
30brucellosis10.0
31constipation10.0
32hyperthyroidism10.0
33meningitis10.0
34myocardial infarction10.0
35myocarditis10.0
36pericarditis10.0
37polyneuropathy10.0
38binswanger's disease10.0
39pyridoxine deficiency10.0
40deficiency anemia10.0ALAD, HMBS, FECH
41reye syndrome10.0GLUL, PC
42cholestasis10.0LIPC, NR1I2, NR1I3
43uremia10.0ALAD, LIPC, NR1I3
44galactosemia10.0GLUL, CPOX, FECH
45hyperammonemia multi-gene panels10.0GLUL, PC
46metabolic acidosis10.0PC, GLUL
47chronic kidney failure10.0NR1I3, ALAD, LIPC
48lactic acidosis10.0CPOX, PC
49congenital porphyria10.0ALAD, FECH, CPOX, HMBS
50metabolic syndrome x9.9PPOX, FECH, PC, NR1I3, HMBS

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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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-RT41:

Genetic Tests for Acute Porphyria

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Anatomical Context for Acute Porphyria

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33MalaCards
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MalaCards organs/tissues related to Acute Porphyria:

33
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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52PubMed
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Articles related to Acute Porphyria:

(show top 50)    (show all 249)
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
Chester porphyria: biochemical studies of a new form of acute porphyria. (2864531)
1985
15
Carbamazepine-induced acute porphyria syndrome. (6143958)
1984
16
Porphobilinogen-synthase (delta-aminolevulinic acid dehydratase) deficiency in bone marrow cells of two patients with porphobilinogen-synthase defect acute porphyria. (6887758)
1983
17
Superoxide dismutase, glutathione peroxidase, and catalase activities in the erythrocytes of patients with intermittent acute porphyria. (7055922)
1982
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Acute Porphyria:

1 (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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2BioGPS, 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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50PathCards, 38NCBI BioSystems Database, 55Reactome, 51PharmGKB, 12EMD Millipore, 30KEGG
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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 Receptors38
9.8NR1I2, NR1I3
49.8NR1I2, NR1I3
59.5NR1I2, NR1I3, GLUL
6
Show member pathways
methylglyoxal degradation VI38
methylglyoxal degradation I38
9.4PCK2, PC
7
Show member pathways
tetrapyrrole biosynthesis38
heme degradation38
Heme Biosynthesis38
heme biosynthesis38
heme biosynthesis from uroporphyrinogen-III I38
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:
45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank, 51PharmGKB
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Compounds related to Acute Porphyria according to GeneCards/GeneDecks:

(show top 50)    (show all 96)
idCompoundScoreTop Affiliating Genes
1androstanol4510.1NR1I3, NR1I2
2pregnanedione2910.1NR1I2, NR1I3
3Protoporphyrinogen IX2410.0CPOX, PPOX
4uroporphyrin i4510.0HMBS, ALAD
5hydroxymethylbilane45 2411.0FECH, PPOX, HMBS
6ppix4510.0HMBS, FECH, PPOX
7androstenol4510.0NR1I2, NR1I3
8pregnane459.9NR1I3, NR1I2
9dmes459.8NR1I3, NR1I2
10uroporphyrin459.7CPOX, HMBS, ALAD
11uroporphyrinogen-iii459.6HMBS, FECH, CPOX, PPOX
12citco45 2910.5NR1I2, NR1I3
13cholic acid45 29 24 1112.4FECH, NR1I2, LIPC
14malate459.3PCK2, PC, GLUL
15alpha-ketoglutarate459.3PC, PCK2, GLUL
16fructose45 1110.3PCK2, PC, ALAD
17phosphoenolpyruvate45 1110.3GLUL, PCK2, PC
18protoporphyrin ix45 24 1111.2HMBS, FECH, CPOX, PPOX, ALAD
19phenobarbital45 29 51 1112.1HMBS, NR1I2, ALAS1, NR1I3
20sterol459.0NR1I2, LIPC, NR1I3, PCK2
21glucose 6-phosphate45 2410.0PCK2, PC, GLUL
22magnesium45 24 1110.9PC, FECH, ALAD, NR1I3, GLUL
23protoporphyrinogen458.8GLUL, HMBS, PPOX, CPOX, FECH, ALAD
24glycerol45 24 1110.8PC, GLUL, PCK2, LIPC
25haem458.7PPOX, CPOX, ALAS1, HMBS, FECH
26lead458.7CPOX, FECH, ALAD, NR1I2, HMBS, GLUL
27nitric oxide45 24 1110.7ALAD, HMBS, CPOX, FECH, NR1I2, GLUL
28arginine458.6GLUL, PPOX, LIPC, HMBS, NR1I3, CPOX
29lactate458.6PCK2, GLUL, CPOX, ALAD, PC
30glycogen45 249.5GLUL, PCK2, PC, LIPC
31ethanol45 51 24 1111.5CPOX, LIPC, NR1I3, ALAD, HMBS, GLUL
32glutamate458.4PPOX, CPOX, PC, PCK2, NR1I3, GLUL
33porphobilinogen45 24 1110.3CPOX, HMBS, ALAD, ALAS1, FECH, PPOX
34porphyrin458.3FECH, ALAS1, ALAD, HMBS, CPOX, PPOX
35dexamethasone45 51 29 1111.3GLUL, CPOX, NR1I3, NR1I2, PC, PCK2
36formyl-coa45 249.3ALAD, HMBS, ALAS1, FECH, CPOX, PPOX
375-aminolevulinic acid45 249.3PPOX, CPOX, FECH, ALAD, ALAS1, HMBS
38fatty acid458.3PCK2, PC, LIPC, CPOX, NR1I2
39heme29 24 1110.3HMBS, PPOX, CPOX, ALAS1, ALAD, FECH
40acetyl-coa45 249.3PC, LIPC, PCK2, ALAS1
41serine458.3FECH, LIPC, NR1I2, NR1I3, HMBS, GLUL
42cholesterol45 29 24 1111.3PCK2, CPOX, LIPC, NR1I3, GLUL, NR1I2
43cycloheximide458.1PCK2, ALAS1, NR1I2, HMBS, GLUL, CPOX
44iron45 249.0ALAS1, FECH, CPOX, PPOX, GLUL, HMBS
45superoxide45 248.8PC, CPOX, FECH, ALAD, LIPC, NR1I2
46glucose457.8PC, PCK2, NR1I2, CPOX, GLUL, LIPC
47alanine457.6CPOX, PCK2, GLUL, ALAS1, PC, FECH
48atp45 298.4GLUL, CPOX, LIPC, PC, ALAD, NR1I2
49oxygen45 248.4FECH, GLUL, NR1I2, PPOX, CPOX, LIPC
50lipid457.4NR1I3, CPOX, LIPC, PC, GLUL, NR1I2

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 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
  • Antibodies

Sources for Acute Porphyria

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet