Porphyria, Variegate

An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.

Synonym
Porphyria, Variegate

Excerpt	Reference
"Variegate porphyria is the result of decreased protoporphyrinogen oxidase (PPOX) activity, the penultimate enzyme of haem biosynthesis."	( Ferrer, MD; Llompart, I; Orfila, J; Palacin, C; Pons, A; Romaguera, D; Sureda, A; Tauler, P; Tur, JA, 2009)
"Variegate porphyria is one of the four acute porphyrias, and can present with both blistering cutaneous lesions and acute neurovisceral attacks involving abdominal pain, neuropsychiatric features, neuropathy, hyponatremia, and a vast array of other nonspecific clinical features."	( Bew, D; Hymers, C; Jenkins, JM; Norton, J; Stein, P, 2016)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	2 (6.90)	23.3326
1990's	0 (0.00)	12.5806
2000's	14 (48.28)	18.1394
2010's	11 (37.93)	28.8240
2020's	2 (6.90)	9.53

Drug	Relationship Strength	Studies	Trials
aminolevulinic acid	low	2	0
porphobilinogen	low	1	0
anastrozole	low	1	0
letrozole	low	1	0
propafenone	low	1	0
propofol	low	1	0
sibutramine	low	1	0
prednisone	low	1	0
arginine	low	1	0
malondialdehyde	medium	2	2
d-alpha tocopherol	medium	2	2
fomesafen	low	1	0
triazoles	low	1	0
zinc coproporphyrin iii	low	1	0
protoporphyrinogen	low	1	0
docetaxel anhydrous	low	1	0
flavin-adenine dinucleotide	low	1	0
hydromorphone	low	1	0
amoxicillin-potassium clavulanate combination	low	1	0
losartan potassium	low	1	0
chlorophyll a	low	1	0
heme	low	8	0
ascorbic acid	medium	2	2
epoetin alfa	low	1	0
deoxyguanosine	low	1	0
8-hydroxy-2'-deoxyguanosine	low	1	0
heme arginate	low	1	0

Protein Targets (270)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
Chain A, Avidin	0	0	2	2
Chain A, Avidin	0	0	2	2
Chain B, Avidin	0	0	2	2
Chain A, Beta-lactamase	1	0	0	1
bromodomain adjacent to zinc finger domain 2B	1	0	0	1
geminin	4	0	0	4
Gamma-aminobutyric acid receptor subunit rho-1	0	1	0	1
Glutamate receptor 1	0	1	0	1
Glutamate receptor 2	0	1	0	1
Glutamate receptor 3	0	1	0	1
Glutamate receptor ionotropic, kainate 3	0	1	0	1
Solute carrier family 15 member 1	0	1	0	1
Glutamate receptor 4	0	1	0	1
Solute carrier family 15 member 1	0	1	0	1
Solute carrier family 15 member 2	0	1	0	1
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	2	0	0	2
AR protein	8	0	0	8
cytochrome P450 family 3 subfamily A polypeptide 4	9	0	0	9
glucocorticoid receptor [Homo sapiens]	6	0	0	6
estrogen nuclear receptor alpha	10	0	0	10
G	3	0	0	3
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	7	0	0	7
thyroid hormone receptor beta isoform 2	7	0	0	7
ATP-binding cassette sub-family C member 3	0	5	0	5
Multidrug resistance-associated protein 4	0	5	0	5
Bile salt export pump	0	6	0	6
Interferon beta	6	0	0	6
HLA class I histocompatibility antigen, B alpha chain	3	0	0	3
Aromatase	0	4	0	4
Cytochrome P450 2C9	0	2	0	2
Amine oxidase [flavin-containing] A	0	2	0	2
UDP-glucuronosyltransferase 1A4	0	1	0	1
Spike glycoprotein	5	0	0	5
Inositol hexakisphosphate kinase 1	3	0	0	3
Canalicular multispecific organic anion transporter 1	0	4	0	4
cytochrome P450 2C9, partial	3	0	0	3
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
Chain E, LYSINE, ARGININE, ORNITHINE-BINDING PROTEIN	0	0	1	1
thioredoxin reductase	2	0	0	2
phosphopantetheinyl transferase	1	0	0	1
NFKB1 protein, partial	1	0	0	1
GLS protein	2	0	0	2
thyroid stimulating hormone receptor	3	0	0	3
alpha-galactosidase	1	0	0	1
euchromatic histone-lysine N-methyltransferase 2	3	0	0	3
cytochrome P450 2C19 precursor	2	0	0	2
chromobox protein homolog 1	4	0	0	4
flap endonuclease 1	1	0	0	1
DNA polymerase iota isoform a (long)	2	0	0	2
muscarinic acetylcholine receptor M1	2	0	0	2
lethal factor (plasmid)	2	0	0	2
Cytochrome P450 3A4	0	0	0	1
Nitric oxide synthase, endothelial	0	0	0	2
Nitric oxide synthase, brain	0	0	0	1
Nitric oxide synthase, brain	0	0	0	1
Nitric oxide synthase, inducible	0	0	0	1
Nitric oxide synthase, inducible	0	0	1	3
Cationic amino acid transporter 3	0	1	0	1
ATP-dependent phosphofructokinase	1	0	0	1
Chain A, Hyaluronidase, phage associated	0	1	0	1
acetylcholinesterase	1	0	0	1
RAR-related orphan receptor gamma	3	0	0	3
GLI family zinc finger 3	6	0	0	6
thioredoxin glutathione reductase	2	0	0	2
retinoic acid nuclear receptor alpha variant 1	8	0	0	8
estrogen-related nuclear receptor alpha	7	0	0	7
vitamin D (1,25- dihydroxyvitamin D3) receptor	6	0	0	6
IDH1	2	0	0	2
nuclear factor erythroid 2-related factor 2 isoform 2	2	0	0	2
nuclear factor erythroid 2-related factor 2 isoform 1	5	0	0	5
lethal(3)malignant brain tumor-like protein 1 isoform I	1	0	0	1
lamin isoform A-delta10	4	0	0	4
Polyphenol oxidase 2	0	1	0	1
Pancreatic alpha-amylase	0	2	0	2
Albumin	0	1	0	1
Urease	0	1	0	1
Prolyl 4-hydroxylase subunit alpha-1	0	0	0	1
Tyrosinase	0	1	0	1
Alpha-2B adrenergic receptor	0	2	1	3
Hyaluronate lyase	0	1	0	1
Prolyl hydroxylase EGLN2	0	0	0	1
Egl nine homolog 1	0	0	0	1
Prolyl hydroxylase EGLN3	0	0	0	1
Hypoxia-inducible factor 1-alpha inhibitor	0	0	0	1
Solute carrier family 23 member 1	0	1	0	1
USP1 protein, partial	3	0	0	3
Microtubule-associated protein tau	1	0	0	1
activating transcription factor 6	2	0	0	2
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a	4	0	0	4
heat shock protein beta-1	3	0	0	3
importin subunit beta-1 isoform 1	2	0	0	2
snurportin-1	2	0	0	2
GTP-binding nuclear protein Ran isoform 1	2	0	0	2
Rap guanine nucleotide exchange factor 3	1	0	0	1
Cellular tumor antigen p53	6	0	0	6
Glutathione S-transferase P	0	1	0	1
Alpha-tocopherol transfer protein	0	0	1	1
TDP1 protein	6	0	0	6
67.9K protein	2	0	0	2
Thymidine kinase, cytosolic	0	1	0	2
Deoxycytidine kinase	0	0	0	1
AAA family ATPase	0	0	0	1
Sterol O-acyltransferase 1	0	1	0	1
PPM1D protein	2	0	0	2
caspase 7, apoptosis-related cysteine protease	3	0	0	3
nuclear receptor subfamily 1, group I, member 3	3	0	0	3
farnesoid X nuclear receptor	3	0	0	3
pregnane X nuclear receptor	5	0	0	5
peroxisome proliferator activated receptor gamma	3	0	0	3
caspase-3	3	0	0	3
thyroid stimulating hormone receptor	2	0	0	2
nuclear receptor subfamily 1, group I, member 2	1	0	0	1
Serum paraoxonase/arylesterase 1	0	1	0	1
Kinesin-like protein KIF11	0	1	0	1
ATPase family AAA domain-containing protein 5	2	0	0	2
Ataxin-2	3	0	0	3
Nucleotide-binding oligomerization domain-containing protein 2	0	1	0	1
glp-1 receptor, partial	2	0	0	2
Fumarate hydratase	2	0	0	2
Smad3	2	0	0	2
estrogen receptor 2 (ER beta)	3	0	0	3
progesterone receptor	4	0	0	4
retinoid X nuclear receptor alpha	2	0	0	2
cytochrome P450 2D6	2	0	0	2
polyprotein	2	0	0	2
peroxisome proliferator-activated receptor delta	1	0	0	1
aryl hydrocarbon receptor	1	0	0	1
v-jun sarcoma virus 17 oncogene homolog (avian)	4	0	0	4
potassium voltage-gated channel subfamily H member 2 isoform d	2	0	0	2
urokinase-type plasminogen activator precursor	1	0	0	1
plasminogen precursor	1	0	0	1
urokinase plasminogen activator surface receptor precursor	1	0	0	1
Alpha-synuclein	1	0	0	1
Luciferase	1	0	0	1
hypoxia-inducible factor 1 alpha subunit	1	0	0	1
Histone H2A.x	2	0	0	2
Solute carrier family 22 member 1	0	3	0	5
Solute carrier family 22 member 3	0	0	0	1
Mu-type opioid receptor	0	1	1	2
Delta-type opioid receptor	0	1	0	1
Kappa-type opioid receptor	0	1	1	2
EWS/FLI fusion protein	3	0	0	3
runt-related transcription factor 1 isoform AML1b	1	0	0	1
vitamin D3 receptor isoform VDRA	2	0	0	2
core-binding factor subunit beta isoform 2	1	0	0	1
cytochrome P450 3A4 isoform 1	2	0	0	2
Gamma-aminobutyric acid receptor subunit pi	2	1	1	4
Carbonic anhydrase 2	0	3	0	3
Estrogen receptor	0	1	0	1
Steryl-sulfatase	0	1	0	1
Gamma-aminobutyric acid receptor subunit beta-1	2	1	1	4
Cytochrome P450 11B1, mitochondrial	0	1	0	1
Gamma-aminobutyric acid receptor subunit delta	2	1	1	4
Gamma-aminobutyric acid receptor subunit gamma-2	2	1	1	4
Cytochrome P450 11B2, mitochondrial	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-5	2	1	1	4
Gamma-aminobutyric acid receptor subunit alpha-3	2	1	1	4
Gamma-aminobutyric acid receptor subunit gamma-1	2	1	1	4
Gamma-aminobutyric acid receptor subunit alpha-2	2	1	1	4
Gamma-aminobutyric acid receptor subunit alpha-4	2	1	1	4
Gamma-aminobutyric acid receptor subunit gamma-3	2	1	1	4
Gamma-aminobutyric acid receptor subunit alpha-6	2	1	1	4
Gamma-aminobutyric acid receptor subunit alpha-1	2	1	1	4
Gamma-aminobutyric acid receptor subunit beta-3	2	1	1	4
Gamma-aminobutyric acid receptor subunit beta-2	2	1	1	4
GABA theta subunit	2	1	1	4
Gamma-aminobutyric acid receptor subunit epsilon	2	1	1	4
Type-1A angiotensin II receptor	0	1	0	1
Type-1B angiotensin II receptor	0	2	0	2
Type-2 angiotensin II receptor	0	1	0	1
cGMP-inhibited 3',5'-cyclic phosphodiesterase B	0	1	0	1
cGMP-inhibited 3',5'-cyclic phosphodiesterase A	0	1	0	1
5-hydroxytryptamine receptor 1A	0	1	0	1
Type-1 angiotensin II receptor	0	1	0	1
Macrophage migration inhibitory factor	0	1	0	1
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	1	0	0	1
Chain A, HADH2 protein	1	0	0	1
Chain B, HADH2 protein	1	0	0	1
pregnane X receptor	1	0	0	1
aldehyde dehydrogenase 1 family, member A1	1	0	0	1
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	2	0	0	2
nuclear receptor ROR-gamma isoform 1	1	0	0	1
Glucocorticoid receptor	0	2	1	3
Glycine receptor subunit alpha-1	0	2	0	2
Glycine receptor subunit beta	0	2	0	2
Glycine receptor subunit alpha-2	0	2	0	2
Glycine receptor subunit alpha-3	0	2	0	2
Nuclear receptor ROR-gamma	1	0	0	1
regulator of G-protein signaling 4	1	0	0	1
D(1A) dopamine receptor	2	0	0	2
serine/threonine-protein kinase mTOR isoform 1	1	0	0	1
peripheral myelin protein 22	1	0	0	1
survival motor neuron protein isoform d	1	0	0	1
Potassium channel subfamily K member 3	0	1	0	1
ATP-binding cassette sub-family C member 9	0	1	0	1
5-hydroxytryptamine receptor 4	0	4	0	4
Potassium channel subfamily K member 2	0	1	0	1
Cytochrome P450 1A2	0	1	0	1
Beta-2 adrenergic receptor	0	2	0	2
Aldo-keto reductase family 1 member B1	0	6	0	6
ATP-dependent translocase ABCB1	0	2	1	3
Beta-1 adrenergic receptor	0	2	0	2
Cytochrome P450 2D6	0	1	0	1
Beta-3 adrenergic receptor	0	2	0	2
5-hydroxytryptamine receptor 1A	0	2	0	2
Sodium-dependent noradrenaline transporter	0	6	0	6
5-hydroxytryptamine receptor 2A	0	2	0	2
5-hydroxytryptamine receptor 2C	0	4	0	4
5-hydroxytryptamine receptor 1B	0	2	0	2
5-hydroxytryptamine receptor 2B	0	4	0	4
D(1A) dopamine receptor	1	0	0	1
5-hydroxytryptamine receptor 6	0	2	0	2
5-hydroxytryptamine receptor 7	0	1	0	1
Cytochrome P450 2J2	0	1	0	1
Sodium-dependent dopamine transporter	0	4	0	4
Potassium voltage-gated channel subfamily H member 2	0	1	0	1
Sodium channel protein type 5 subunit alpha	0	1	0	1
ATP-sensitive inward rectifier potassium channel 11	0	1	0	1
Lanosterol 14-alpha demethylase	0	1	0	1
Sigma non-opioid intracellular receptor 1	0	2	0	2
Nuclear receptor subfamily 2 group E member 1	0	0	1	1
Chain A, Ferritin light chain	1	0	0	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Chain A, Ferritin light chain	0	0	1	1
Bloom syndrome protein isoform 1	1	0	0	1
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 1	1	0	0	1
Fatty-acid amide hydrolase 1	0	1	0	1
UDP-glucuronosyltransferase 1A9	0	0	0	1
Carbonic anhydrase 1	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-1	0	0	0	1
Gamma-aminobutyric acid receptor subunit beta-1	0	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-2	0	0	0	1
Gamma-aminobutyric acid receptor subunit alpha-3	0	0	0	1
Polyunsaturated fatty acid lipoxygenase ALOX15	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-1	0	1	1	2
Gamma-aminobutyric acid receptor subunit beta-1	0	0	1	1
Gamma-aminobutyric acid receptor subunit gamma-2	0	1	1	2
Gamma-aminobutyric acid receptor subunit alpha-4	0	0	0	1
Gamma-aminobutyric acid receptor subunit gamma-2	0	0	0	1
Prostaglandin G/H synthase 1	0	1	0	1
Sodium- and chloride-dependent GABA transporter 1	0	1	0	1
Gamma-aminobutyric acid receptor subunit beta-3	0	1	1	2
Gamma-aminobutyric acid receptor subunit alpha-5	0	0	1	1
Sodium- and chloride-dependent GABA transporter 2	0	1	0	1
Sodium- and chloride-dependent GABA transporter 3	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-3	0	0	1	1
Gamma-aminobutyric acid receptor subunit alpha-2	0	0	1	1
Gamma-aminobutyric acid receptor subunit beta-2	0	0	1	1
Sodium- and chloride-dependent betaine transporter	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-4	0	0	1	1
Fatty-acid amide hydrolase 1	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-6	0	0	1	1
UDP-glucuronosyltransferase 1A8	0	0	0	1
Vpr	1	0	0	1
Sodium-dependent serotonin transporter	0	2	0	2
Chain A, ykoF	0	0	1	1
Chain B, ykoF	0	0	1	1
Chain A, ThiT	0	0	1	1
Thiamine transporter ThiT	0	0	1	1
Carbonic anhydrase 6	0	1	0	1
Transketolase	0	0	1	1
Thiamine-binding periplasmic protein	0	0	1	1
Solute carrier family 22 member 1	0	1	0	1
Solute carrier family 22 member 2	0	1	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Synonyms(1)

Research Excerpts

Overview

Research

Studies (29)

Protein Targets (270)

Porphyria, Variegate

Synonyms(1)

Research Excerpts

Overview

Research

Studies (29)

Drugs Studied (34)

Protein Targets (270)