Acute Porphyria malady

MalaCards: Acute Porphyria, also known as hepatic porphyria (disorder), is related to porphyria cutanea tarda and congenital porphyria. An important gene associated with Acute Porphyria is PPOX (protoporphyrinogen oxidase), and among its related pathways are Glucose metabolism and Pyruvate metabolism. The drugs chlorpromazine and chlorpromazine hydrochloride and the compounds uroporphyrin i and uroporphyrin have been mentioned in the context of this disorder. Affiliated tissues include liver and t cells.

Aliases & Descriptions:

acute porphyria 6 hepatic porphyria (disorder) 6 acute intermittent porphyria 43

porphyrias, hepatic 43 porphyrias 43

Diseases related to acute porphyria by text searches and GeneDecks gene sharing:

(show top 50)    (show all 61)

id	Related Disease	Score	Top Affiliating Genes
1	porphyria cutanea tarda	36.0	PPOX, ALAD, FECH, HMBS
2	congenital porphyria	32.3	FECH, HMBS
3	variegate porphyria	31.6	HMBS, PPOX, ALAD
4	acute intermittent porphyria	30.7	ALAD, PPOX, HMBS
5	acute hepatic porphyria	30.7	FECH, ALAS1, ALAD, PPOX, HMBS
6	erythropoietic protoporphyria	30.4	FECH, PPOX
7	hereditary coproporphyria	28.1	ALAD, FECH, PPOX, HMBS
8	coproporphyria	28.1	PPOX, HMBS, ALAD, FECH
9	peripheral neuropathy	27.9	PC, ALAD, HMBS
10	hepatocellular carcinoma	26.8	NR1I3, GLUL, LIPC, HMBS, PCK2, NR1I2
11	hepatitis	25.6	FECH, LIPC, ALAS1, ALAD, PC, NR1I3
12	carcinoma	25.5	GLUL, ALAS1, HMBS, NR1I2, ALAD, LIPC
13	hypochromic anemia	13.1	ALAD, FECH
14	short-chain acyl-coa dehydrogenase deficiency	12.8	PCK2, PC
15	sideroblastic anemia	12.7	ALAS1, FECH
16	reye syndrome	12.6	PC, GLUL
17	hyperammonemia with hypoornithinemia	12.6	PC, GLUL
18	biliary tract disease	12.5	NR1I2, NR1I3
19	vlcad deficiency	12.4	PC, PCK2
20	intrahepatic cholestasis	12.4	NR1I3, NR1I2
21	uremia	12.4	LIPC, NR1I3, ALAD
22	galactosemia	12.3	GLUL, FECH
23	chronic kidney failure	12.2	LIPC, NR1I3, ALAD
24	maturity-onset diabetes of the young	12.1	NR1I3, PCK2, NR1I2
25	was-related disorders	11.8	NR1I2, LIPC, NR1I3
26	cholestasis	11.7	NR1I2, LIPC, NR1I3
27	bilirubin metabolic disorder	11.7	NR1I3, PPOX, PC, FECH, HMBS
28	tuberculosis	11.3	ALAD, FECH, PPOX, ALAS1, PCK2, GLUL
29	fatty liver disease	11.0	PC, PCK2, LIPC, NR1I2, NR1I3
30	cholesterol	10.7	NR1I2, GLUL, FECH, NR1I3, PCK2, LIPC
31	congenital erythropoietic porphyria	10.5
32	thyroiditis	10.4	NR1I2, GLUL, ALAD, NR1I3, PCK2, LIPC
33	hepatoerythropoietic porphyria	9.8
34	porphyria	9.5
35	hemochromatosis	8.8
36	hepatitis c	8.7
37	cutaneous porphyria	8.1
38	chester porphyria	7.6
39	ala dehydratase deficiency	7.4
40	porphyria variegata	7.4
41	hydroxymethylbilane synthase deficiency	7.3
42	aminolevulinate dehydratase deficiency porphyria	6.9
43	alcoholism	6.5
44	ala deficiency porphyria	6.5
45	porphyria, acute intermittent, nonerythroid variant	6.5
46	neuropathy	6.2
47	anemia	6.0
48	hepatitis b	6.0
49	iron overload	6.0
50	liver disease	6.0

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 chlorpromazine, chlorpromazine hydrochloride

MalaCards organs/tissues related to acute porphyria:

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Articles related to acute porphyria:

(show all 12)

id	Title	Authors	Year	Affiliating Genes
1	Guide to drug porphyrogenicity prediction and drug prescription in the acute porphyrias. (17578481)	Thunell S.... Brun A.	2007	ALAS1
2	(Far) Outside the box: genomic approach to acute porphyria. (17298222)	Thunell S.	2006	NR1I2, ALAS1, NR1I3
3	Response of glucose metabolism enzymes in an acute porphyria model. Role of reactive oxygen species. (16125296)	Lelli S.M.... Mazzetti M.B.	2005	FECH, PCK2
4	Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. (15534187)	Solis C.... Desnick R.J.	2004	HMBS
5	Treatment of acute porphyrias. The importance of follow-up of patients and carriers (12809070)	TasnA!di G.... Pusztai A.	2003	ALAD
6	Acute porphyrias in the Argentinean population: a review. (12899439)	Parera V.E.... Batlle A.M.	2003	PPOX
7	Lipoprotein abnormalities in patients with asymptomat ic acute porphyria. (10727671)	FernA!ndez-Miranda C.... EnrA-quez de Salamanca R.	2000	LIPC
8	Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. (10207164)	Lindberg R.L.... Meyer U.A.	1999	HMBS
9	The effect of therapeutic drugs and other pharmacolog ic agents on activity of porphobilinogen deaminase, the enzyme that is deficien t in intermittent acute porphyria. (10416826)	Tishler P.V.	1999	HMBS
10	Markers for vulnerability in acute porphyria. A hypothesis paper. (7626691)	Thunell S.... Lindh U.	1995	GLUL, PC
11	Effects of mifepristone (RU-486) on heme metabolism and cytochromes P-450 in cultured chick embryo liver cells, possible implications for acute porphyria. (7957180)	Cable E.E.... Bonkovsky H.L.	1994	FECH
12	Chester porphyria: biochemical studies of a new form of acute porphyria. (2864531)	McColl K.E.... Youngs G.R.	1985	HMBS

Genes related to acute porphyria according to GeneCards:

(show all 11)

id	Symbol	Description	Score	GeneCards Section Context
1	PPOX	protoporphyrinogen oxidase	11.0	Publications
2	ALAS1	aminolevulinate, delta-, synthase 1	11.0	Publications
3	HMBS	hydroxymethylbilane synthase	11.0	Publications
4	PCK2	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	11.0	Publications
5	ALAD	aminolevulinate dehydratase	11.0	Publications
6	FECH	ferrochelatase	11.0	Publications
7	GLUL	glutamate-ammonia ligase	11.0	Publications
8	PC	pyruvate carboxylase	11.0	Publications
9	NR1I3	nuclear receptor subfamily 1, group I, member 3	11.0	Publications
10	NR1I2	nuclear receptor subfamily 1, group I, member 2	11.0	Publications
11	LIPC	lipase, hepatic	11.0	Publications

Pathways related to acute porphyria according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Glucose metabolism38	9.6	PCK2, PC
2	Pyruvate metabolism20	9.6	PC, PCK2
3	Citrate cycle (TCA cycle)20	9.5	PC, PCK2
4	Glycolysis and gluconeogenesis (short map)41	9.3	PC, PCK2
5	Metabolism38	9.2	PPOX, HMBS, ALAD, FECH
6	Carbamazepine Pathway, Pharmacokinetics34	9.1	NR1I2, NR1I3
7	Porphyrin and chlorophyll metabolism20	9.0	FECH, ALAD, ALAS1, HMBS, PPOX
8	Selected targets of GCR-alpha10	8.7	GLUL, NR1I2, NR1I3
9	Metabolic pathways20	7.1	PPOX, HMBS, GLUL, ALAS1, ALAD, FECH

Compounds related to acute porphyria according to GeneDecks:

(show top 50)    (show all 77)

id	Compound	Score	Top Affiliating Genes
1	uroporphyrin i32	10.1	HMBS, ALAD
2	uroporphyrin32	10.1	ALAD, HMBS
3	glucose32	10.0	PC, HMBS
4	ppix32	9.9	PPOX, HMBS, FECH
5	hydroxymethylbilane32 18	10.9	PPOX, HMBS, FECH
6	uroporphyrinogen-iii32	9.9	FECH, HMBS, PPOX
7	oxaloacetate32	9.8	PC, PCK2
8	haem32	9.6	PPOX, HMBS, ALAS1, FECH
9	fructose32 9 9	11.6	PC, PCK2, ALAD
10	actb32	9.6	HMBS, ALAS1
11	protoporphyrin ix32 9 18 9	12.5	FECH, ALAD, HMBS, PPOX
12	malate32	9.5	PC, PCK2, GLUL
13	alpha-ketoglutarate32	9.5	GLUL, PCK2, PC
14	phosphoenolpyruvate32 9 9	11.5	PC, PCK2, GLUL
15	androstanol32	9.4	NR1I2, NR1I3
16	androstenol32	9.4	NR1I3, NR1I2
17	pregnane32	9.3	NR1I3, NR1I2
18	glucose 6-phosphate32 18	10.3	GLUL, PCK2, PC
19	dmes32	9.3	NR1I3, NR1I2
20	citco32 42	10.3	NR1I3, NR1I2
21	pregnenolone 16alpha-carbonitrile32	9.3	NR1I2, NR1I3
22	formyl-coa32 18	10.2	PPOX, HMBS, ALAS1, ALAD, FECH
23	porphyrin32	9.2	PPOX, HMBS, ALAS1, ALAD, FECH
24	nonylphenol32	9.2	NR1I2, NR1I3
25	porphobilinogen32 9 18 9	12.2	FECH, ALAD, ALAS1, HMBS, PPOX
26	5-aminolevulinic acid32 18	10.2	PPOX, HMBS, ALAS1, ALAD, FECH
27	Heme9 18 9	11.2	PPOX, HMBS, ALAS1, ALAD, FECH
28	acetyl-coa32 18	10.2	ALAS1, LIPC, PCK2, PC
29	hyperforin32 9 9	11.1	NR1I2, NR1I3
30	cholic acid32 9 18 9	12.1	LIPC, FECH, NR1I2
31	protoporphyrinogen32	9.1	FECH, ALAD, GLUL, HMBS, PPOX
32	glycerol32 9 18 9	12.0	PC, PCK2, LIPC, GLUL
33	phenobarbital32 9 9	10.8	ALAS1, HMBS, NR1I2, NR1I3
34	iron32 18	9.8	PPOX, HMBS, GLUL, ALAS1, ALAD, FECH
35	glycogen32 18	9.6	GLUL, LIPC, PCK2, PC
36	cycloheximide32	8.6	NR1I2, HMBS, GLUL, ALAS1, PCK2
37	ethanol32 34 9 18 9	12.6	NR1I3, HMBS, GLUL, ALAD, LIPC
38	sterol32	8.6	NR1I3, NR1I2, LIPC, PCK2
39	lead32	8.5	NR1I2, HMBS, GLUL, ALAD, FECH
40	mifepristone32 42 9 9	11.5	GLUL, NR1I2, NR1I3
41	magnesium32 9 18 9	11.4	NR1I3, GLUL, ALAD, FECH, PC
42	arginine32	8.3	NR1I3, PPOX, HMBS, GLUL, LIPC
43	alanine32	8.2	NR1I3, GLUL, ALAS1, FECH, PCK2, PC
44	nitric oxide32 9 18 9	11.1	FECH, ALAD, GLUL, HMBS, NR1I2
45	cholesterol32 9 18 9	11.0	NR1I3, NR1I2, GLUL, LIPC, PCK2
46	dexamethasone32 42 34 9 9	11.9	NR1I3, NR1I2, GLUL, PCK2, PC
47	superoxide32 18	8.8	NR1I2, GLUL, ALAD, FECH, LIPC, PC
48	atp32	7.5	NR1I2, HMBS, GLUL, ALAD, LIPC, PCK2
49	oxygen32 18	8.5	NR1I3, NR1I2, PPOX, GLUL, ALAS1, FECH
50	lipid32	7.2	NR1I3, NR1I2, GLUL, ALAD, LIPC, PCK2

Cellular components related to acute porphyria according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial matrix	GO:005759	8.9	PC, PCK2, FECH, ALAS1

Biological processes related to acute porphyria according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	response to methylmercury	GO:051597	9.7	FECH, HMBS
2	cellular response to dexamethasone stimulus	GO:071549	9.6	HMBS, FECH
3	oxaloacetate metabolic process	GO:006107	9.3	PCK2, PC
4	protoporphyrinogen IX biosynthetic process	GO:006782	9.3	PPOX, HMBS, ALAS1, ALAD
5	intracellular receptor mediated signaling pathway	GO:030522	9.0	NR1I2, NR1I3
6	porphyrin-containing compound metabolic process	GO:006778	9.0	FECH, ALAD, ALAS1, HMBS, PPOX
7	heme biosynthetic process	GO:006783	8.9	PPOX, HMBS, ALAS1, ALAD, FECH
8	small molecule metabolic process	GO:044281	7.5	PPOX, HMBS, GLUL, ALAS1, ALAD, FECH

Molecular functions related to acute porphyria according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity	GO:004879	9.0	NR1I2, NR1I3