Acute Hepatic Porphyria malady

MalaCards: Acute Hepatic Porphyria, also known as porphobilinogen synthase deficiency, is related to acute intermittent porphyria and variegate porphyria. An important gene associated with Acute Hepatic Porphyria is ALAD (aminolevulinate dehydratase), and among its related pathways are Metabolism and Metabolic pathways. The compounds coproporphyrin i and porphyrinogen have been mentioned in the context of this disorder.

OMIM: 612740

acute hepatic porphyria 16 porphobilinogen synthase deficiency 16 43 delta-aminolevulinate dehydratase deficiency 16

porphyria, acute hepatic 33 porphyrias 43

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

(show top 50)    (show all 59)

id	Related Disease	Score	Top Affiliating Genes
1	acute intermittent porphyria	34.7	CPOX, PPOX, HMBS, ALAD, UROD
2	variegate porphyria	34.2	PPOX, HMBS, ALAD, UROD
3	porphyria cutanea tarda	33.4	CPOX, PPOX, HMBS, ALAD, FECH, UROD
4	aminolevulinate dehydratase deficiency porphyria	31.5	ALAD, UROD
5	cutaneous porphyria	31.4	ALAD, UROD
6	acute porphyria	30.7	PPOX, HMBS, ALAS1, ALAD, FECH
7	harderoporphyria	30.1	CPOX, CPO
8	congenital porphyria	29.8	CPOX, HMBS, FECH, UROD
9	hereditary coproporphyria	29.0	CPOX, HMBS, UROD
10	hepatitis	28.9	CPOX, CPO, PPOX, HMBS, HMOX1, ALAS1
11	erythropoietic protoporphyria	28.2	CPOX, PPOX, HMOX1, FECH
12	neuropathy	27.7	HMBS, HMOX1, ALAD, UROD
13	iron overload	27.4	UROD, HMOX1, PPOX
14	coproporphyria	26.2	HMBS, ALAD, FECH, UROD, PPOX, CPO
15	anemia	24.3	CPOX, HMBS, HMOX1, ALAS1, ALAD, FECH
16	hypochromic anemia	12.6	ALAD, FECH
17	autosomal dominant disease	12.6	HMBS, CPOX
18	siderosis	12.6	UROD, HMOX1
19	acute liver failure	12.6	ALAS1, HMOX1
20	hypertrichosis	12.5	PPOX, UROD
21	skin carcinoma	12.4	FECH, CPOX
22	sideroblastic anemia	12.3	ALAS1, FECH
23	macrocytic anemia	12.3	FECH, UROD
24	chronic kidney failure	12.2	UROD, ALAD, HMOX1
25	galactosemia	12.1	CPOX, FECH
26	oligodendroglioma	11.9	FECH, HMOX1, CPOX
27	hematopoiesis	11.5	FECH, ALAS1, HMOX1, HMBS
28	hypertension	11.5	CPOX, PPOX, HMBS, HMOX1, ALAD
29	bilirubin metabolic disorder	11.5	UROD, FECH, HMBS, PPOX
30	mayer-rokitansky-kuster-hauser syndrome	11.2	UROD, FECH, HMBS
31	congenital erythropoietic porphyria	10.5
32	tuberculosis	10.3	PPOX, HMBS, HMOX1, ALAS1, ALAD, FECH
33	malaria	10.1	CPOX, HMBS, HMOX1, ALAS1, ALAD, FECH
34	hepatoerythropoietic porphyria	9.8
35	porphyria	9.6
36	hemochromatosis	8.8
37	hepatitis c	8.7
38	chester porphyria	8.6
39	ala dehydratase deficiency	8.1
40	ala deficiency porphyria	8.0
41	porphyria variegata	7.4
42	carcinoma	7.1
43	hepatocellular carcinoma	7.1
44	alcoholism	6.5
45	porphyria, acute intermittent, nonerythroid variant	6.5
46	hepatitis b	6.0
47	liver disease	6.0
48	peripheral neuropathy	6.0
49	nephrosclerosis	5.1
50	peptic ulcer	5.1

Clinical features from OMIM: 612740

Approved drugs:

Drug clinical trials:

Genetic tests related to acute hepatic porphyria:

id	Genetic test	Affiliating Genes
1	Acute Hepatic Porphyria clinical/research	ALAD

Articles related to acute hepatic porphyria:

id	Title	Authors	Year	Affiliating Genes
1	Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. (14669009)	Gouya L.... Deybach J.-C.	2004	FECH, HMBS, PPOX
2	Zinc mesoporphyrin represses induced hepatic 5-aminolevulinic acid synthase and reduces heme oxygenase activity in a mouse model of acute hepatic porphyria. (11343251)	Schuurmans M.M.... Meyer U.A.	2001	HMOX1, ALAS1, HMBS
3	Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria. (10706561)	Akagi R.... Sassa S.	2000	ALAD
4	Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors. (10898313)	Andant C.... Deybach J.C.	2000	UROD
5	An acquired acute hepatic porphyria: a novel type of delta-aminolevulinate dehydratase inhibition. (1486684)	Akagi R.... Sassa S.	1992	ALAD
6	Message amplification phenotyping of an inherited delta-aminolevulinate dehydratase deficiency in a family with acute hepatic porphyria. (2222472)	Ishida N.... Sassa S.	1990	ALAD
7	Acute hepatic porphyria syndrome with porphobilinogen synthase defect. (7450139)	Doss M.... Schneider J.	1980	ALAD

Genes related to acute hepatic porphyria according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	ALAD	aminolevulinate dehydratase	11.1	Publications, Summaries
2	PPOX	protoporphyrinogen oxidase	11.0	Publications
3	UROD	uroporphyrinogen decarboxylase	11.0	Publications
4	HMBS	hydroxymethylbilane synthase	11.0	Publications
5	CPOX	coproporphyrinogen oxidase	11.0	Publications
6	CPO	carboxypeptidase O	11.0
7	ALAS1	aminolevulinate, delta-, synthase 1	11.0	Publications
8	FECH	ferrochelatase	11.0	Publications
9	HMOX1	heme oxygenase (decycling) 1	11.0	Publications

Pathways related to acute hepatic porphyria according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Metabolism38	7.4	CPOX, PPOX, HMBS, ALAD, FECH, UROD
2	Metabolic pathways20	7.1	FECH, ALAD, ALAS1, HMBS, PPOX, CPOX
3	Porphyrin and chlorophyll metabolism20	6.5	CPOX, UROD, FECH, ALAD, ALAS1, HMOX1

Compounds related to acute hepatic porphyria according to GeneDecks:

(show all 42)

id	Compound	Score	Top Affiliating Genes
1	coproporphyrin i32 9 9	12.1	UROD, ALAD
2	porphyrinogen32	10.0	CPOX, UROD
3	Coproporphyrin Iii9 18 9	12.0	UROD, CPOX
4	heme arginate32	9.9	HMBS, HMOX1
5	mspi32	9.9	ALAD, HMBS
6	mercury32	9.8	UROD, CPOX
7	propionate32	9.8	CPOX, UROD
8	uroporphyrin i32	9.8	ALAD, UROD, HMBS
9	acetyl-l-carnitine32	9.7	HMOX1, CPOX
10	actb32	9.7	ALAS1, HMBS
11	ethylenediaminetetraacetic acid32	9.6	FECH, ALAD
12	mesoporphyrin32	9.5	FECH, HMOX1
13	carbon dioxide32 18	10.3	UROD, CPOX, ALAS1
14	uroporphyrin32	9.3	UROD, CPOX, HMBS, ALAD
15	ppix32	9.3	FECH, PPOX, HMBS
16	ethanol32 34 9 18 9	13.2	UROD, CPOX, HMBS, ALAD
17	pyrrole32	9.2	CPOX, FECH, UROD
18	zinc protoporphyrin32	9.2	FECH, HMOX1, ALAD
19	s-nitroso-n-acetylpenicillamine32	9.1	FECH, HMOX1
20	copper32 18	10.1	FECH, CPOX, ALAD
21	deferoxamine32 9 9	11.0	HMOX1, FECH
22	hydroxymethylbilane32 18	9.9	HMBS, UROD, PPOX, FECH
23	phenobarbital32 9 9	10.9	HMOX1, UROD, ALAS1, HMBS
24	lead32	8.8	CPOX, HMBS, ALAD, FECH
25	arginine32	8.8	CPOX, PPOX, HMOX1, HMBS
26	vitamin b632	8.7	ALAS1, FECH
27	cycloheximide32	8.7	HMOX1, HMBS, ALAS1, CPOX
28	superoxide32 18	9.6	HMOX1, ALAD, FECH, CPOX
29	histidine32	8.6	HMBS, ALAS1, UROD, FECH
30	uroporphyrinogen-iii32	8.5	HMBS, FECH, UROD, CPOX, PPOX
31	nitric oxide32 9 18 9	11.2	HMOX1, HMBS, FECH, ALAD, CPOX
32	protoporphyrinogen32	8.2	CPOX, UROD, FECH, ALAD, HMBS, PPOX
33	alanine32	8.1	CPOX, HMOX1, ALAS1, FECH
34	oxygen32 18	8.7	FECH, CPOX, PPOX, HMOX1, ALAS1, UROD
35	protoporphyrin ix32 9 18 9	10.6	CPOX, PPOX, HMBS, HMOX1, ALAD, FECH
36	porphyrin32	7.6	UROD, FECH, ALAD, HMBS, PPOX, CPOX
37	porphobilinogen32 9 18 9	10.5	CPOX, PPOX, HMBS, ALAS1, ALAD, FECH
38	formyl-coa32 18	8.5	ALAS1, ALAD, FECH, UROD, HMBS, CPOX
39	haem32	7.4	UROD, FECH, ALAS1, HMOX1, CPOX, PPOX
40	5-aminolevulinic acid32 18	8.0	UROD, FECH, ALAD, ALAS1, HMOX1, HMBS
41	Heme9 18 9	9.0	CPOX, ALAD, HMOX1, HMBS, PPOX, FECH
42	iron32 18	8.0	FECH, ALAD, ALAS1, HMOX1, PPOX, CPOX

Cellular components related to acute hepatic porphyria according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial intermembrane space	GO:005758	9.7	PPOX, CPOX

Biological processes related to acute hepatic porphyria according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	response to insecticide	GO:017085	9.3	CPOX, FECH
2	response to arsenic-containing substance	GO:046685	9.3	FECH, CPOX
3	cellular response to dexamethasone stimulus	GO:071549	9.2	FECH, HMBS
4	response to lead ion	GO:010288	9.1	FECH, CPOX
5	response to methylmercury	GO:051597	8.9	FECH, CPOX, HMBS
6	response to drug	GO:042493	8.9	FECH, HMBS, PPOX
7	iron ion homeostasis	GO:055072	8.8	FECH, HMOX1
8	protoporphyrinogen IX biosynthetic process	GO:006782	8.2	PPOX, CPOX, HMBS, ALAS1, UROD, ALAD
9	heme biosynthetic process	GO:006783	7.3	UROD, FECH, ALAD, ALAS1, HMBS, PPOX
10	porphyrin-containing compound metabolic process	GO:006778	6.8	UROD, FECH, ALAD, ALAS1, HMOX1, HMBS
11	small molecule metabolic process	GO:044281	6.8	FECH, UROD, ALAS1, HMOX1, HMBS, PPOX