Congenital Erythropoietic Porphyria

An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.

Synonym
UROS Deficiency
Deficiency of Uroporphyrinogen III Synthase
Erythropoietic Porphyria
Porphyria, Congenital Erythropoietic
Uroporphyrinogen III Synthase, Deficiency of
Congenital Erythropoietic Porphyria
Porphyria, Erythropoietic, Congenital
Gunther's Disease
Porphyria, Erythropoietic
Gunther Disease

Excerpt	Reference
"Hepatoerythropoietic porphyria is inherited as an autosomal recessive trait, whereas familial porphyria cutanea tarda is dominant."	( de Verneuil, H; Ged, C; Herrero, C; Lecha, M; Mascaro, JM; Mendez, M; Ozalla, D, 2002)
"Congenital erythropoietic porphyria is a rare autosomal recessive disorder of haem biosynthesis caused by a deficiency of uroporphyrinogen III synthetase."	( Creamer, JD; Dawe, SA; Du Vivier, A; Peters, TJ, 2002)
"The erythropoietic porphyrias are erythropoietic protoporphyria, and congenital erythropietic porphyria."	( Murphy, GM, 2003)
"Congenital erythropoietic porphyria is a rare error of heme metabolism."	( Bose, S; Darlong, V; Kumar, M; Punj, J, 2009)
"Congenital erythropoietic porphyria is a rare disorder of heme biosynthesis, resulting from decreased enzymatic activity of uroporphyrinogen III synthase."	( Aneja, S; Ged, C; Kapoor, S; Mukherjee, SB; Pandey, M; Patra, B; Seth, A, 2013)
"Congenital erythropoietic porphyria is a rare autosomal recessive disease caused by a deficiency of uroporphyrinogen III synthase, owing to mutations in UROS in chromosome 10."	( Aguilera, P; Badenas, C; Combalia, A; Costa, D; Gaya, A; Guijarro, F; Jorge, S; Podlipnik, S; Rozman, M; To-Figueras, J, 2018)
"Congenital erythropoietic porphyria is a rare autosomal recessive disease produced by deficient activity of uroporphyrinogen III synthase, the fourth enzyme in the heme biosynthetic pathway."	( Anguita, J; Ben Bdira, F; Bernardo-Seisdedos, G; Blouin, JM; Castilla, J; de Verneuil, H; Díez, E; Dubus, P; Eraña, H; Falcón-Pérez, JM; García, S; González, E; González-Muñiz, R; Gutiérrez-de-Juan, V; Laín, A; Macías, I; Mato, JM; Millet, O; Moreno, J; Ortega, G; Oyarzábal, J; Pluta, P; Richard, E; Rodríguez-Cuesta, J; San Juan, I; Sanz-Parra, A; Urquiza, P, 2018)
"The erythropoietic porphyrias are inborn errors of heme biosynthesis with prominent cutaneous manifestations."	( Balwani, M; Chen, B; Desnick, RJ; Nazarenko, I; Weiss, Y; Yasuda, M, 2019)

Timeframe	Studies, This Condition (%)	All Conditions %
pre-1990	15 (16.13)	23.3326
1990's	26 (27.96)	12.5806
2000's	22 (23.66)	18.1394
2010's	26 (27.96)	28.8240
2020's	4 (4.30)	9.53

Drug	Relationship Strength	Studies	Trials
aminolevulinic acid	low	2	0
glycine	low	1	0
hydroxymethylbilane	low	1	0
niacin	low	1	0
pyridoxine	low	2	0
uroporphyrinogen iii	low	1	0
amiodarone	medium	1	1
chloroquine	low	1	0
ciclopirox	low	1	0
deferiprone	low	1	0
deferoxamine	low	2	0
glyburide	low	1	0
hydroxyurea	low	1	0
protoporphyrin ix	low	6	0
pyrimethamine	low	1	0
prednisolone	low	2	0
prednisone	low	2	0
alanine	low	1	0
serine	low	2	0
tyrosine	low	1	0
leucine	low	1	0
phenylalanine	low	1	0
arginine	low	2	0
pyrazines	low	1	0
azacitidine	low	1	0
malondialdehyde	low	1	0
d-alpha tocopherol	low	1	0
ferrous sulfate	low	1	0
zinc sulfate	medium	1	1
urobilinogen	low	1	0
adenosine	low	1	0
triazoles	low	3	0
uroporphyrin i	low	3	0
proline	low	1	0
atropine	low	1	0
deferasirox	low	2	0
bortezomib	low	1	0
leupeptins	low	1	0
retinol	low	1	0
benzyloxycarbonylleucyl-leucyl-leucine aldehyde	low	1	0
riboflavin	low	1	0
beta carotene	low	4	0
canthaxanthin	low	1	0
acitretin	low	1	0
lead	low	1	0
cysteine	low	3	0
losartan potassium	low	1	0
cholecystokinin	low	1	0
heme	low	26	0
vitamin b 12	low	1	0
cyclosporine	low	1	0
levoleucovorin	low	1	0
inosine diphosphate	low	1	0
folic acid	low	1	0
heme arginate	low	2	0
eye	low	1	0

Protein Targets (739)

Protein	Potency Measurements	Inhibition Measurements	Activation Measurements	Drugs
Chain A, JmjC domain-containing histone demethylation protein 3A	4	0	0	4
Luciferase	5	0	0	5
USP1 protein, partial	8	0	0	8
TDP1 protein	17	0	0	17
Microtubule-associated protein tau	6	0	0	6
AR protein	23	0	0	23
aldehyde dehydrogenase 1 family, member A1	15	0	0	15
glucocorticoid receptor [Homo sapiens]	16	0	0	16
estrogen nuclear receptor alpha	22	0	0	22
peroxisome proliferator activated receptor gamma	11	0	0	11
euchromatic histone-lysine N-methyltransferase 2	12	0	0	12
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a	11	0	0	11
vitamin D3 receptor isoform VDRA	6	0	0	6
thyroid hormone receptor beta isoform 2	10	0	0	10
flap endonuclease 1	6	0	0	6
serine/threonine-protein kinase PLK1	2	0	0	2
eyes absent homolog 2 isoform a	1	0	0	1
DNA polymerase eta isoform 1	2	0	0	2
geminin	13	0	0	13
peripheral myelin protein 22	9	0	0	9
survival motor neuron protein isoform d	5	0	0	5
histone acetyltransferase KAT2A isoform 1	5	0	0	5
ATP-binding cassette sub-family C member 3	0	12	0	12
Multidrug resistance-associated protein 4	0	12	0	13
Bile salt export pump	0	4	0	4
Bile salt export pump	0	18	0	18
Rap guanine nucleotide exchange factor 3	3	0	0	3
Cellular tumor antigen p53	15	0	0	15
Rap guanine nucleotide exchange factor 4	1	0	0	1
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE	9	0	0	9
Chain A, Membrane lipoprotein tmpC	0	0	1	1
Chain A, Membrane lipoprotein tmpC	0	0	1	1
Chain A, Membrane lipoprotein tmpC	0	0	1	1
Chain A, Structure of PAE2307 in complex with adenosine	0	0	1	1
Chain B, Structure of PAE2307 in complex with adenosine	0	0	1	1
Chain A, ADENOSINE RECEPTOR A2A	0	1	0	1
Chain A, ADENOSINE RECEPTOR A2A	0	1	0	1
Chain A, tRNA (guanine-N(1)-)-methyltransferase	0	0	1	1
Chain A, Uncharacterized protein MJ0883	0	0	1	1
signal transducer and activator of transcription 6, interleukin-4 induced	1	0	0	1
regulator of G-protein signaling 4	4	0	0	4
retinoid X nuclear receptor alpha	11	0	0	11
NPYLR7B	0	0	2	2
arylsulfatase A	4	0	0	4
IDH1	4	0	0	4
Histone H2A.x	6	0	0	6
glycogen synthase kinase-3 beta isoform 1	0	0	1	1
mitogen-activated protein kinase 1	5	0	0	5
nuclear receptor ROR-gamma isoform 1	6	0	0	6
high affinity choline transporter 1 isoform a	0	1	0	1
Sodium/nucleoside cotransporter 1	0	2	0	2
Calcium dependent protein kinase	0	1	0	1
Mitogen-activated protein kinase kinase kinase 7	0	0	1	1
Sodium/nucleoside cotransporter 2	0	2	0	2
Voltage-dependent calcium channel gamma-2 subunit	5	0	0	5
Purine nucleoside phosphorylase	0	1	0	1
Epidermal growth factor receptor	0	1	0	1
Phosphoglycerate kinase 1	0	1	0	1
Adenosine deaminase	0	0	0	1
Avidin	0	0	1	1
Adenosine deaminase	0	0	0	1
Glyceraldehyde-3-phosphate dehydrogenase	0	2	0	2
Receptor tyrosine-protein kinase erbB-2	0	2	0	2
Insulin receptor	0	0	0	1
Phosphoglycerate kinase 2	0	1	0	1
Heat shock protein HSP 90-alpha	0	1	1	2
Platelet-derived growth factor receptor beta	0	0	0	1
Adenosine receptor A3	0	5	2	8
Heat shock 70 kDa protein 1A	0	1	0	1
Heat shock cognate 71 kDa protein	0	0	1	1
Fibroblast growth factor receptor 1	0	0	0	1
Inosine-5'-monophosphate dehydrogenase 2	0	1	0	1
Endoplasmin	0	1	1	2
Glutamate receptor 2	6	0	0	6
Inosine-5'-monophosphate dehydrogenase 1	0	1	0	1
Fibroblast growth factor receptor 2	0	0	0	1
Fibroblast growth factor receptor 4	0	0	0	1
Fibroblast growth factor receptor 3	0	0	0	1
Streptavidin	0	0	1	1
Adenosylhomocysteinase	0	0	0	1
Adenosine receptor A1	0	1	1	4
Adenosine receptor A3	0	1	0	1
Adenosine receptor A2a	0	2	2	5
Adenosine receptor A2b	0	0	1	2
Adenosine receptor A2b	0	1	1	2
Adenylate kinase 2, mitochondrial	0	1	0	1
Adenosine receptor A1	0	3	2	6
Adenosine receptor A2a	0	1	1	4
Adenylate kinase isoenzyme 1	0	1	0	1
Phosphatidylinositol 4-kinase alpha	0	2	0	3
Adenosine receptor A1	0	0	1	1
Adenosine kinase	0	0	0	1
Adenosine deaminase	0	0	0	1
Equilibrative nucleoside transporter 2	0	2	0	2
Phosphatidylinositol 4-kinase type 2-beta	0	2	0	3
Histone-lysine N-methyltransferase, H3 lysine-79 specific	0	1	0	1
Equilibrative nucleoside transporter 1	0	2	0	2
Phosphatidylinositol 4-kinase type 2-alpha	0	2	0	3
Solute carrier family 28 member 3	0	2	0	2
Adenosine kinase	0	1	0	2
Phosphatidylinositol 4-kinase beta	0	2	0	3
5-methylthioadenosine/S-adenosylhomocysteine deaminase	0	0	0	1
Adenosine transporter 1	0	0	0	1
Chain A, TYROSYL-DNA PHOSPHODIESTERASE	8	0	0	8
Carbonic anhydrase 1	0	1	0	4
Carbonic anhydrase 2	0	2	0	6
Alanine racemase, biosynthetic	0	0	0	1
5-hydroxytryptamine receptor 1D	0	0	0	1
Glutamate receptor ionotropic, NMDA 1	0	4	1	7
Proton-coupled amino acid transporter 1	0	5	0	6
Adenosine deaminase	0	0	0	1
Carbonic anhydrase 4	0	0	0	1
Chain A, Beta-lactamase	2	0	0	2
bromodomain adjacent to zinc finger domain 2B	3	0	0	3
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	2	0	2
Solute carrier family 15 member 2	0	2	0	2
acetylcholinesterase	4	0	0	4
phosphopantetheinyl transferase	6	0	0	6
hypoxia-inducible factor 1 alpha subunit	4	0	0	4
RAR-related orphan receptor gamma	11	0	0	11
SMAD family member 2	6	0	0	6
ATAD5 protein, partial	3	0	0	3
Fumarate hydratase	8	0	0	8
NFKB1 protein, partial	5	0	0	5
PPM1D protein	6	0	0	6
SMAD family member 3	6	0	0	6
Thrombopoietin	2	0	0	2
caspase 7, apoptosis-related cysteine protease	3	0	0	3
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	3	0	0	3
thyroid stimulating hormone receptor	6	0	0	6
estrogen receptor 2 (ER beta)	8	0	0	8
nuclear receptor subfamily 1, group I, member 3	11	0	0	11
progesterone receptor	9	0	0	9
EWS/FLI fusion protein	9	0	0	9
retinoic acid nuclear receptor alpha variant 1	13	0	0	13
estrogen-related nuclear receptor alpha	15	0	0	15
farnesoid X nuclear receptor	7	0	0	7
pregnane X nuclear receptor	12	0	0	12
G	3	0	0	3
cytochrome P450 2D6	6	0	0	6
polyprotein	8	0	0	8
peroxisome proliferator-activated receptor delta	8	0	0	8
caspase-3	3	0	0	3
thyroid stimulating hormone receptor	6	0	0	6
v-jun sarcoma virus 17 oncogene homolog (avian)	6	0	0	6
cytochrome P450 2D6 isoform 1	5	0	0	5
cellular tumor antigen p53 isoform a	3	0	0	3
cytochrome P450 2C9 precursor	4	0	0	4
D(1A) dopamine receptor	1	0	0	1
chromobox protein homolog 1	8	0	0	8
thyroid hormone receptor beta isoform a	5	0	0	5
potassium voltage-gated channel subfamily H member 2 isoform d	4	0	0	4
heat shock protein beta-1	5	0	0	5
huntingtin isoform 2	2	0	0	2
serine/threonine-protein kinase mTOR isoform 1	2	0	0	2
nuclear factor erythroid 2-related factor 2 isoform 1	11	0	0	11
peptidyl-prolyl cis-trans isomerase NIMA-interacting 1	2	0	0	2
urokinase-type plasminogen activator precursor	5	0	0	5
plasminogen precursor	5	0	0	5
urokinase plasminogen activator surface receptor precursor	5	0	0	5
cytochrome P450 3A4 isoform 1	7	0	0	7
muscarinic acetylcholine receptor M1	6	0	0	6
lethal factor (plasmid)	5	0	0	5
lamin isoform A-delta10	11	0	0	11
Gamma-aminobutyric acid receptor subunit pi	7	0	0	7
Polyunsaturated fatty acid lipoxygenase ALOX15B	2	0	0	2
Voltage-dependent L-type calcium channel subunit alpha-1C	0	1	0	1
Solute carrier organic anion transporter family member 1A4	0	1	0	1
Voltage-dependent L-type calcium channel subunit alpha-1F	0	1	0	1
5-hydroxytryptamine receptor 4	0	4	0	4
Lysine-specific demethylase PHF2	0	1	0	1
Interferon beta	10	0	0	10
HLA class I histocompatibility antigen, B alpha chain	3	0	0	3
Thyroid hormone receptor alpha	0	1	0	1
Integrin beta-3	3	0	0	3
Tyrosine-protein kinase Fyn	0	1	0	1
ATP-dependent translocase ABCB1	0	1	0	1
Aldo-keto reductase family 1 member B1	0	2	0	2
Muscarinic acetylcholine receptor M2	0	5	1	9
Muscarinic acetylcholine receptor M4	0	5	1	8
ATP-dependent translocase ABCB1	0	2	1	3
Integrin alpha-IIb	3	0	0	3
Beta-1 adrenergic receptor	0	2	0	2
Muscarinic acetylcholine receptor M5	0	5	1	8
Alpha-2A adrenergic receptor	0	3	0	3
Cytochrome P450 2C8	0	1	0	1
Thyroid hormone receptor alpha	0	1	0	1
Thyroid hormone receptor beta	0	1	0	1
Muscarinic acetylcholine receptor M1	0	5	1	9
Beta-3 adrenergic receptor	0	2	0	2
D(2) dopamine receptor	0	2	0	2
Androgen receptor	0	3	0	3
Gamma-aminobutyric acid receptor subunit beta-1	7	0	0	7
Alpha-1B adrenergic receptor	0	2	0	2
Lethal factor	0	1	0	1
Alpha-2B adrenergic receptor	0	3	0	3
Thyroid hormone receptor beta	0	1	0	1
Gamma-aminobutyric acid receptor subunit delta	7	0	0	7
Gamma-aminobutyric acid receptor subunit gamma-2	7	0	0	7
Gamma-aminobutyric acid receptor subunit alpha-5	7	0	0	7
Gamma-aminobutyric acid receptor subunit alpha-3	7	0	0	7
Muscarinic acetylcholine receptor M3	0	5	1	8
ATP-dependent translocase ABCB1	0	1	0	1
Substance-K receptor	0	2	0	2
D(1A) dopamine receptor	0	2	0	2
D(4) dopamine receptor	0	2	0	2
Gamma-aminobutyric acid receptor subunit gamma-1	7	0	0	7
Gamma-aminobutyric acid receptor subunit alpha-2	7	0	0	7
Carnitine O-palmitoyltransferase 2, mitochondrial	0	1	0	1
Sodium-dependent noradrenaline transporter	0	2	1	3
Histamine H2 receptor	0	2	0	2
Endothelin-1 receptor	0	2	0	2
5-hydroxytryptamine receptor 2A	0	2	0	2
5-hydroxytryptamine receptor 2C	0	4	0	4
Gamma-aminobutyric acid receptor subunit alpha-4	7	0	0	7
Gamma-aminobutyric acid receptor subunit gamma-3	7	0	0	7
Lysine-specific demethylase 5A	0	2	0	2
Gamma-aminobutyric acid receptor subunit alpha-6	7	0	0	7
B2 bradykinin receptor	0	2	0	2
Sodium-dependent serotonin transporter	0	2	0	2
Melanocortin receptor 4	0	2	0	2
C-8 sterol isomerase	0	1	0	1
Melanocortin receptor 5	0	2	0	2
Mu-type opioid receptor	0	2	0	2
D(3) dopamine receptor	0	2	0	2
Sodium channel protein type 1 subunit alpha	0	1	0	1
Sodium channel protein type 4 subunit alpha	0	1	0	1
Squalene synthase	0	1	0	1
Delta-type opioid receptor	0	2	0	2
Kappa-type opioid receptor	0	2	0	2
5-hydroxytryptamine receptor 2B	0	2	0	2
C-C chemokine receptor type 2	0	2	0	2
Melanocortin receptor 3	0	2	0	2
Alpha-1A adrenergic receptor	0	3	0	3
Histamine H2 receptor	4	0	0	5
D(1A) dopamine receptor	2	0	0	2
5-hydroxytryptamine receptor 6	0	2	0	2
Carnitine O-palmitoyltransferase 1, liver isoform	0	1	0	1
C-C chemokine receptor type 4	0	2	0	2
Spike glycoprotein	5	1	1	7
Gamma-aminobutyric acid receptor subunit alpha-1	7	0	0	7
Gamma-aminobutyric acid receptor subunit beta-3	7	0	0	7
Gamma-aminobutyric acid receptor subunit beta-2	7	0	0	7
Sodium channel protein type 7 subunit alpha	0	1	0	1
Voltage-dependent L-type calcium channel subunit alpha-1D	0	1	0	1
Sodium-dependent dopamine transporter	0	2	0	2
Potassium voltage-gated channel subfamily H member 2	0	5	0	5
Voltage-dependent L-type calcium channel subunit alpha-1S	0	1	0	1
Voltage-dependent L-type calcium channel subunit alpha-1C	0	2	0	2
Sodium channel protein type 5 subunit alpha	0	2	0	2
Squalene monooxygenase	0	1	0	1
3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase	0	1	0	1
Sodium channel protein type 9 subunit alpha	0	1	0	1
Lysine-specific demethylase 7A	0	1	0	1
GABA theta subunit	7	0	0	7
Carnitine O-palmitoyltransferase 1, muscle isoform	0	1	0	1
Inositol hexakisphosphate kinase 1	3	0	0	3
Canalicular multispecific organic anion transporter 1	0	8	0	8
Sodium channel protein type 2 subunit alpha	0	1	0	1
Ataxin-2	7	0	0	7
Sigma non-opioid intracellular receptor 1	0	3	0	3
Gamma-aminobutyric acid receptor subunit epsilon	7	0	0	7
NAD-dependent protein deacetylase sirtuin-3, mitochondrial	0	0	1	1
Sodium channel protein type 3 subunit alpha	0	1	0	1
Sodium channel protein type 11 subunit alpha	0	1	0	1
Histone lysine demethylase PHF8	0	1	0	1
Sodium channel protein type 8 subunit alpha	0	1	0	1
Sodium channel protein type 10 subunit alpha	0	1	0	1
cytochrome P450 2C9, partial	3	0	0	3
ATP-dependent phosphofructokinase	7	0	0	7
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	7	0	0	7
GLS protein	4	0	0	4
alpha-galactosidase	2	0	0	2
cytochrome P450 2C19 precursor	4	0	0	4
DNA polymerase iota isoform a (long)	4	0	0	4
Cytochrome P450 3A4	0	1	0	2
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
Chain A, 2-oxoglutarate Oxygenase	6	0	0	6
GLI family zinc finger 3	11	0	0	11
cystic fibrosis transmembrane conductance regulator	0	1	0	1
DNA polymerase beta	3	0	0	3
short transient receptor potential channel 6 isoform 1	0	0	1	1
Solute carrier family 22 member 1	0	2	0	2
Muscarinic acetylcholine receptor M1	0	2	1	5
Muscarinic acetylcholine receptor M3	0	2	1	5
Muscarinic acetylcholine receptor M4	0	2	1	5
Muscarinic acetylcholine receptor M5	0	2	1	5
Muscarinic acetylcholine receptor M2	0	2	1	6
Muscarinic acetylcholine receptor M1	0	0	0	1
Alpha-1D adrenergic receptor	0	2	0	2
Muscarinic acetylcholine receptor M4	0	1	0	1
5-hydroxytryptamine receptor 7	0	1	0	1
Reverse transcriptase/RNaseH	0	0	0	1
Muscarinic acetylcholine receptor	0	1	1	2
interleukin 8	3	0	0	3
glp-1 receptor, partial	4	0	0	4
pregnane X receptor	4	0	0	4
Smad3	4	0	0	4
cytochrome P450 family 3 subfamily A polypeptide 4	10	0	0	10
67.9K protein	3	0	0	3
Parkin	2	0	0	2
vitamin D (1,25- dihydroxyvitamin D3) receptor	6	0	0	6
aryl hydrocarbon receptor	4	0	0	4
activating transcription factor 6	5	0	0	5
Bloom syndrome protein isoform 1	5	0	0	5
peripheral myelin protein 22 isoform 1	4	0	0	4
hemoglobin subunit beta	1	0	0	1
ras-related protein Rab-9A	2	0	0	2
DNA (cytosine-5)-methyltransferase 1	0	1	0	1
Nuclear receptor ROR-gamma	5	0	0	5
Multidrug and toxin extrusion protein 1	0	3	0	3
Histone-lysine N-methyltransferase EHMT2	0	1	0	1
ATPase family AAA domain-containing protein 5	5	0	0	5
Proteasome subunit beta type-11	0	2	0	2
Calpain-9	0	1	0	1
Proteasome subunit alpha type-7	0	2	0	2
Cathepsin B	0	2	0	2
Replicase polyprotein 1ab	0	3	1	4
Replicase polyprotein 1ab	0	3	1	4
Aromatase	0	2	0	2
Indoleamine 2,3-dioxygenase 1	0	1	0	1
Calpain-2 catalytic subunit	0	1	0	1
Proteasome subunit beta type-1	0	3	0	4
Proteasome subunit alpha type-1	0	2	0	2
Proteasome subunit alpha type-2	0	2	0	2
Proteasome subunit alpha type-3	0	2	0	2
Proteasome subunit alpha type-4	0	2	0	2
NF-kappa-B inhibitor alpha	0	0	1	1
Proteasome subunit beta type-8	0	2	0	2
Proteasome subunit beta type-9	0	2	0	2
Proteasome subunit alpha type-5	0	2	0	2
Proteasome subunit beta type-4	0	2	0	2
Proteasome subunit beta type-6	0	2	0	2
Proteasome subunit beta type-5	0	4	0	5
Proteasome subunit beta type-10	0	2	0	2
Cathepsin K	0	1	0	1
Proteasome subunit beta type-3	0	2	0	2
Proteasome subunit beta type-2	0	3	0	4
Proteasome subunit alpha type-6	0	2	0	2
Proteasome subunit alpha-type 8	0	2	0	2
Proteasome subunit beta type-7	0	2	0	2
Gamma-secretase subunit PEN-2	0	1	0	1
core protein, partial	0	1	0	1
Solute carrier organic anion transporter family member 1B3	0	2	0	2
Solute carrier organic anion transporter family member 1B1	0	3	0	3
Chain H, Proteasome component PUP1	0	1	0	1
Chain I, Proteasome component PUP3	0	1	0	1
Chain K, Proteasome component PRE2	0	1	0	1
Chain L, Proteasome component C5	0	1	0	1
Chain K, Proteasome component PRE2	0	1	0	1
Chain L, Proteasome component C5	0	1	0	1
nuclear receptor subfamily 1, group I, member 2	2	0	0	2
Caspase-7	1	0	0	1
caspase-3	1	0	0	1
26S proteasome non-ATPase regulatory subunit 11	0	1	0	1
26S proteasome non-ATPase regulatory subunit 12	0	1	0	1
26S proteasome non-ATPase regulatory subunit 14	0	1	0	1
Histone deacetylase 3	0	1	0	1
26S proteasome non-ATPase regulatory subunit 3	0	1	0	1
Carbonic anhydrase 12	0	1	0	3
Prothrombin	0	1	0	1
Chymotrypsinogen A	0	2	0	2
Carbonic anhydrase 3	0	1	0	3
Neutrophil elastase	0	1	0	1
Cathepsin G	0	2	0	2
Lysosomal protective protein	0	1	0	1
Chymotrypsinogen B	0	1	0	1
26S proteasome regulatory subunit 6A	0	1	0	1
Nuclear factor NF-kappa-B p105 subunit	0	1	0	1
Carbonic anhydrase 4	0	2	0	4
Carbonic anhydrase 6	0	1	0	3
Chymase	0	1	0	1
Proteasome subunit beta type-8	0	1	0	1
Carbonic anhydrase 5A, mitochondrial	0	2	0	4
26S proteasome regulatory subunit 7	0	1	0	1
Lon protease homolog, mitochondrial	0	1	0	1
Carbonic anhydrase 7	0	1	0	3
26S proteasome regulatory subunit 6B	0	1	0	1
26S proteasome non-ATPase regulatory subunit 8	0	1	0	1
26S proteasome non-ATPase regulatory subunit 7	0	1	0	1
26S proteasome non-ATPase regulatory subunit 4	0	1	0	1
26S proteasome complex subunit SEM1	0	1	0	1
26S proteasome regulatory subunit 4	0	1	0	1
26S proteasome regulatory subunit 8	0	1	0	1
26S proteasome regulatory subunit 10B	0	1	0	1
Beta-carbonic anhydrase 1	0	1	0	1
Nuclear factor NF-kappa-B p100 subunit	0	1	0	1
Transcription factor p65	0	1	0	1
26S proteasome non-ATPase regulatory subunit 2	0	1	0	1
Histone deacetylase 1	0	1	0	1
26S proteasome non-ATPase regulatory subunit 6	0	1	0	1
Proteasomal ubiquitin receptor ADRM1	0	1	0	1
Carbonic anhydrase 9	0	2	0	5
ATP-dependent Clp protease proteolytic subunit	0	1	1	2
Carbonic anhydrase 13	0	1	0	2
NACHT, LRR and PYD domains-containing protein 3	0	2	0	2
Histone deacetylase 2	0	1	0	1
26S proteasome non-ATPase regulatory subunit 1	0	1	0	1
Carbonic anhydrase 15	0	1	0	3
Histone deacetylase 8	0	1	0	1
Histone deacetylase 6	0	1	0	1
Carbonic anhydrase 14	0	1	0	3
26S proteasome non-ATPase regulatory subunit 13	0	1	0	1
Carbonic anhydrase 5B, mitochondrial	0	1	0	3
Chain A, Ferritin light chain	3	0	0	3
Chain A, Cruzipain	3	0	0	3
15-lipoxygenase, partial	4	0	0	4
glucose-6-phosphate dehydrogenase-6-phosphogluconolactonase	0	1	0	1
Spike glycoprotein	0	1	1	2
Replicase polyprotein 1ab	0	1	1	2
glucose-6-phosphate 1-dehydrogenase isoform b	0	1	0	1
Transmembrane protease serine 2	0	1	1	2
Dihydrofolate reductase	0	2	0	2
DNA ligase	0	1	0	1
Riboflavin-binding protein	0	1	2	3
Major prion protein	0	0	1	1
Amyloid-beta precursor protein	0	3	0	3
Histidine-rich protein PFHRP-II	0	1	0	2
Procathepsin L	0	1	1	2
Replicase polyprotein 1a	0	1	1	2
Replicase polyprotein 1ab	0	1	1	2
Spike glycoprotein	0	1	0	1
Ribosyldihydronicotinamide dehydrogenase [quinone]	0	3	0	3
Alpha-2C adrenergic receptor	0	1	0	1
DNA ligase 1	0	1	0	1
Serine/threonine-protein kinase mTOR	0	1	0	1
Nuclear receptor subfamily 4 group A member 2	0	0	1	1
Beta-secretase 1	0	1	0	1
Calcium-dependent protein kinase 1	0	0	1	1
MO15-related protein kinase Pfmrk	0	1	0	1
DNA ligase A	0	1	0	1
Sigma intracellular receptor 2	0	1	0	1
Phosphoethanolamine N-methyltransferase	0	1	0	1
Angiotensin-converting enzyme 2	0	1	1	2
Cysteine proteinase falcipain 2a	0	1	0	1
Cysteine proteinase falcipain 2a	0	1	0	1
Isocitrate dehydrogenase [NADP] cytoplasmic	0	1	0	1
Lysine-specific demethylase 4B	0	1	0	1
Hypoxia-inducible factor 1-alpha	0	1	1	2
Deoxyhypusine hydroxylase	0	3	0	3
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (p105), isoform CRA_a	5	0	0	5
importin subunit beta-1 isoform 1	2	0	0	2
snurportin-1	2	0	0	2
GTP-binding nuclear protein Ran isoform 1	1	0	0	1
Glutathione S-transferase P	0	1	0	1
Alpha-tocopherol transfer protein	0	0	1	1
Lysine-specific demethylase 6B	0	1	0	1
Lysine-specific demethylase 4A	0	3	1	4
Flavin reductase (NADPH)	0	0	1	1
Potassium voltage-gated channel subfamily D member 3	0	1	0	1
Chain A, Putative fructose-1,6-bisphosphate aldolase	4	0	0	4
apical membrane antigen 1, AMA1	3	0	0	3
nonstructural protein 1	2	0	0	2
Lysine-specific demethylase 6A	0	1	0	1
Lysine-specific demethylase 5C	0	1	0	1
Lysine-specific demethylase 2B	0	1	0	1
Lysine-specific demethylase 2A	0	1	0	1
nuclear factor erythroid 2-related factor 2 isoform 2	5	0	0	5
Guanine nucleotide-binding protein G	2	0	0	2
Methylcytosine dioxygenase TET2	0	1	0	1
Nuclear receptor subfamily 1 group I member 2	0	0	1	1
Chain A, Dihydrofolate reductase	0	0	1	1
Chain A, HADH2 protein	6	0	0	6
Chain B, HADH2 protein	6	0	0	6
acid sphingomyelinase	1	0	0	1
glucocerebrosidase	1	0	0	1
lysosomal alpha-glucosidase preproprotein	2	0	0	2
15-hydroxyprostaglandin dehydrogenase [NAD(+)] isoform 1	5	0	0	5
Thymidylate synthase	0	2	0	2
Thymidylate synthase	0	1	0	1
Dihydrofolate reductase	0	2	2	5
Aldo-keto reductase family 1 member B1	0	1	0	1
Alpha-synuclein	1	1	0	2
Folylpolyglutamate synthase, mitochondrial	0	0	0	1
Solute carrier organic anion transporter family member 1A3	0	1	0	1
Folylpolyglutamate synthase, mitochondrial	0	0	0	1
Multidrug resistance associated protein	0	0	0	1
heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	1	0	0	1
parathyroid hormone/parathyroid hormone-related peptide receptor precursor	3	0	0	3
Solute carrier family 22 member 6	0	1	0	1
ATP-binding cassette sub-family C member 9	0	1	0	1
Solute carrier organic anion transporter family member 2B1	0	0	0	1
Potassium channel subfamily K member 2	0	0	1	1
Beta-lactamase	0	1	0	1
ATP synthase subunit beta, mitochondrial	0	1	0	1
ATP synthase subunit delta, mitochondrial	0	1	0	1
ATP synthase subunit gamma, mitochondrial	0	1	0	1
ATP synthase subunit epsilon, mitochondrial	0	1	0	1
Cytochrome P450 2C9	0	4	1	5
Cystic fibrosis transmembrane conductance regulator	0	1	0	1
5-hydroxytryptamine receptor 1A	0	1	0	1
Cholesteryl ester transfer protein	0	1	0	1
Peroxisome proliferator-activated receptor gamma	0	1	0	1
Malate dehydrogenase, cytoplasmic	0	1	0	1
Inositol monophosphatase 1	3	0	0	3
ATP-binding cassette sub-family C member 8	0	1	0	1
ATP-sensitive inward rectifier potassium channel 11	0	1	0	1
Solute carrier family 22 member 7	0	1	0	1
NACHT, LRR and PYD domains-containing protein 3	0	1	0	1
CDGSH iron-sulfur domain-containing protein 1	0	2	0	2
Broad substrate specificity ATP-binding cassette transporter ABCG2	0	1	0	1
Glycine receptor subunit alpha-1	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
Sodium- and chloride-dependent glycine transporter 1	0	1	0	1
Glutamate receptor ionotropic, NMDA 2A	0	2	1	5
Glutamate receptor ionotropic, NMDA 2B	0	2	1	5
Glutamate receptor ionotropic, NMDA 2C	0	2	1	5
Large neutral amino acids transporter small subunit 1	0	4	0	5
Glutamate receptor ionotropic, NMDA 2D	0	2	1	5
Glutamate receptor ionotropic, NMDA 3B	0	2	1	5
Serine racemase	0	1	0	1
Olfactory receptor 51E2	0	0	1	1
Glutamate receptor ionotropic, NMDA 3A	0	2	1	5
Sodium- and chloride-dependent glycine transporter 2	0	1	0	1
Gamma-aminobutyric acid receptor subunit pi	0	1	0	1
Gamma-aminobutyric acid receptor subunit delta	0	1	0	1
Stromelysin-1	0	0	1	1
Gamma-aminobutyric acid receptor subunit alpha-1	0	1	0	1
Urease subunit alpha	0	1	0	1
Gamma-aminobutyric acid receptor subunit beta-1	0	1	0	1
Gamma-aminobutyric acid receptor subunit gamma-2	0	1	0	1
Ribonucleoside-diphosphate reductase large subunit	0	1	0	1
Gamma-aminobutyric acid receptor subunit beta-3	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-5	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-3	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-2	0	1	0	1
Gamma-aminobutyric acid receptor subunit beta-2	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-4	0	1	0	1
Urease subunit beta	0	1	0	1
Gamma-aminobutyric acid receptor subunit epsilon	0	1	0	1
Gamma-aminobutyric acid receptor subunit alpha-6	0	1	0	1
Gamma-aminobutyric acid receptor subunit gamma-1	0	1	0	1
Gamma-aminobutyric acid receptor subunit gamma-3	0	1	0	1
Gamma-aminobutyric acid receptor subunit theta	0	1	0	1
Chain A, AMINOPEPTIDASE	0	2	0	2
Chain A, AMINOPEPTIDASE	0	2	0	2
Chain A, Leucine Aminopeptidase	0	1	0	1
Alkaline phosphatase, tissue-nonspecific isozyme	0	2	0	2
Intestinal-type alkaline phosphatase	0	2	0	2
Phospholipase A-2-activating protein	0	2	0	2
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
ClpP	1	0	0	1
M-phase phosphoprotein 8	2	0	0	2
Cytochrome P450 1A1	0	1	0	1
Cytochrome P450 1A2	0	1	0	1
Myeloperoxidase	0	1	0	1
Cytochrome P450 1A2	0	1	0	1
Cholinesterase	0	1	0	1
Cytochrome P450 2C11	0	1	0	1
Cytochrome P450 2D6	0	1	0	1
Acetylcholinesterase	0	1	0	1
Metabotropic glutamate receptor 1	0	1	0	1
Acetylcholinesterase	0	1	0	1
Mu-type opioid receptor	0	1	0	1
Nociceptin receptor	0	1	0	1
Melatonin receptor type 1A	0	2	1	3
Melatonin receptor type 1C	0	0	1	1
Melatonin receptor type 1A	0	1	1	2
Melatonin receptor type 1B	0	2	1	3
Melatonin receptor type 1C	0	1	1	2
Melatonin receptor type 1B	0	1	1	2
Nuclear factor erythroid 2-related factor 2	0	0	0	1
Cytochrome P450 1B1	0	1	0	1
Palmitoleoyl-protein carboxylesterase NOTUM	0	1	0	1
Carboxylic ester hydrolase	0	1	0	1
Histamine H3 receptor	0	1	0	1
thyrotropin-releasing hormone receptor	2	0	0	2
Polyphenol oxidase 2	0	1	0	2
Neuronal acetylcholine receptor subunit alpha-4	1	0	0	1
Cholesteryl ester transfer protein	0	1	0	1
Neuronal acetylcholine receptor subunit beta-2	1	0	0	1
D-amino-acid oxidase	0	1	0	1
Xanthine dehydrogenase/oxidase	0	1	0	1
Hydroxycarboxylic acid receptor 3	0	0	1	1
Nicotinamidase	0	1	0	1
Hydroxycarboxylic acid receptor 2	0	0	1	1
Hydroxycarboxylic acid receptor 2	0	2	1	3
D-aspartate oxidase	0	1	0	1
Hydroxycarboxylic acid receptor 2	0	1	1	2
Geranylgeranyl pyrophosphate synthase	0	1	0	1
Farnesyl pyrophosphate synthase	0	2	0	2
Hypoxanthine-guanine phosphoribosyltransferase	0	1	0	1
Farnesyl pyrophosphate synthase	0	1	0	1
Voltage-dependent calcium channel subunit alpha-2/delta-1	0	1	0	1
Plasma kallikrein	0	0	0	2
Alkaline phosphatase, tissue-nonspecific isozyme	0	1	0	1
Intestinal-type alkaline phosphatase	0	1	0	1
5'-nucleotidase	0	1	0	1
Carbonic anhydrase	0	0	0	2
Carbonic anhydrase	0	0	0	2
E3 ubiquitin-protein ligase XIAP	0	1	0	1
SLC16A10 protein	0	0	0	2
Carbonic anhydrase	0	0	0	2
Carbonic anhydrase-like protein, putative	0	0	0	2
Carbonic anhydrase	0	0	0	2
Carbonic anhydrase	0	0	0	2
Large neutral amino acids transporter small subunit 1	0	1	0	1
Carbonic anhydrase	0	0	0	2
Monocarboxylate transporter 10	0	0	0	2
Carbonic anhydrase 13	0	0	0	1
luciferase	0	0	0	1
Fatty acid-binding protein, liver	0	1	0	1
Estrogen receptor	0	2	0	2
Glucocorticoid receptor	0	4	2	11
Progesterone receptor	0	2	0	3
Glucocorticoid receptor	0	1	1	2
Glucocorticoid receptor	0	0	1	1
Glycine receptor subunit alpha-1	0	4	0	4
Corticosteroid-binding globulin	0	1	0	1
Mineralocorticoid receptor	0	2	1	3
Androgen receptor	0	2	0	2
Glutamine synthetase	0	0	1	1
Glycine receptor subunit beta	0	4	0	4
Glycine receptor subunit alpha-2	0	4	0	4
Glycine receptor subunit alpha-3	0	4	0	4
Histamine H1 receptor	0	0	1	1
Prostaglandin G/H synthase 2	0	1	0	1
Nociceptin receptor	0	0	1	1
Cytochrome P450 2J2	0	1	0	1
Estrogen receptor beta	0	2	0	2
thioredoxin glutathione reductase	1	0	0	1
Glutamate 5-kinase	0	0	0	1
Angiotensin-converting enzyme	0	1	0	1
Neutral amino acid transporter A	0	2	0	2
Neutral amino acid transporter B(0)	0	2	0	2
Amino acid transporter	0	2	0	2
Chain A, ATP-DEPENDENT DNA HELICASE Q1	2	0	0	2
Chain A, RNA-directed RNA polymerase NS5	0	1	0	1
SUMO-1	0	1	0	1
WRN	1	0	0	1
isocitrate dehydrogenase 1, partial	1	0	0	1
pyruvate kinase	1	0	0	1
atrial natriuretic peptide receptor 2 precursor	1	0	0	1
ubiquitin carboxyl-terminal hydrolase 2 isoform a	2	0	0	2
histone-lysine N-methyltransferase 2A isoform 2 precursor	1	0	0	1
tumor susceptibility gene 101 protein	1	0	0	1
DNA polymerase kappa isoform 1	2	0	0	2
muscleblind-like protein 1 isoform 1	1	0	0	1
POsterior Segregation	0	0	1	1
chaperonin GroEL	1	0	0	1
neuropeptide S receptor isoform A	1	0	0	1
60 kDa chaperonin	0	2	0	2
60 kDa heat shock protein, mitochondrial	0	2	0	2
Glutamate receptor 1	1	0	0	1
Glutamate receptor 3	1	0	0	1
Glutamate receptor 4	1	0	0	1
10 kDa heat shock protein, mitochondrial	0	2	0	2
Exoribonuclease H	0	1	0	1
Thiosulfate sulfurtransferase	0	2	0	2
Coproheme decarboxylase	0	0	1	1
60 kDa chaperonin	0	2	0	2
Protease	0	1	0	1
10 kDa chaperonin	0	2	0	2
Single-stranded DNA cytosine deaminase	1	0	0	1
Zinc finger protein mex-5	0	0	1	1
phosphoglycerate kinase	1	0	0	1
Pyridoxal kinase	0	0	0	1
GALC protein	1	0	0	1
dual specificity protein phosphatase 3	0	1	0	1
low molecular weight phosphotyrosine protein phosphatase isoform c	0	1	0	1
tyrosine-protein phosphatase non-receptor type 22 isoform 1	0	1	0	1
streptokinase A precursor	0	0	1	1
cGMP-dependent 3',5'-cyclic phosphodiesterase	0	1	0	1
Bifunctional dihydrofolate reductase-thymidylate synthase	0	1	0	1
Solute carrier family 22 member 1	0	1	0	1
Dihydrofolate reductase	0	2	0	2
Estrogen receptor	0	0	1	1
Beta-hexosaminidase subunit alpha	0	1	0	2
Beta-hexosaminidase subunit beta	0	1	0	1
Bifunctional dihydrofolate reductase-thymidylate synthase	0	2	0	2
Dihydrofolate reductase	0	2	0	2
Substance-K receptor	0	1	0	1
Dihydrofolate reductase	0	1	0	1
Low molecular weight phosphotyrosine protein phosphatase	0	1	0	1
Dipeptidyl peptidase 4	0	1	0	1
Pteridine reductase 1	0	1	0	1
Bifunctional dihydrofolate reductase-thymidylate synthase	0	1	0	1
Bifunctional dihydrofolate reductase-thymidylate synthase	0	1	0	1
Trace amine-associated receptor 5	0	0	1	1
Estrogen receptor beta	0	0	1	1
Bifunctional dihydrofolate reductase-thymidylate synthase	0	2	0	2
Multidrug and toxin extrusion protein 1	0	1	0	1
Dihydrofolate reductase	0	1	0	1
Chain A, PLASMA RETINOL-BINDING PROTEIN PRECURSOR	0	0	1	1
Retinol-binding protein 4	0	0	1	1
Beta-lactoglobulin	0	0	1	1
Disintegrin and metalloproteinase domain-containing protein 17	1	0	0	1
Chain A, 6,7-Dimethyl-8-ribityllumazine Synthase	0	0	1	1
Chain B, 6,7-Dimethyl-8-ribityllumazine Synthase	0	0	1	1
Chain A, Breast cancer type 1 susceptibility protein	1	0	0	1
Chain H, Immunoglobulin Igg1 Heavy chain	0	0	1	1
Chain L, Immunoglobulin Igg1 Lambda Light Chain	0	0	1	1
Chain A, DODECIN	0	0	1	1
Chain A, DODECIN	0	0	1	1
Chain C, DODECIN	0	0	1	1
Chain E, DODECIN	0	0	1	1
tumor necrosis factor	1	0	0	1
nuclear factor NF-kappa-B p105 subunit isoform 1	1	0	0	1
caspase-1 isoform alpha precursor	1	0	0	1
Caspase-7	1	0	0	1
Acetylcholinesterase	0	1	0	1
Pyruvate kinase PKM	0	0	1	1
Cholinesterase	0	1	0	1
Cereblon isoform 4	0	2	0	2
Prostaglandin G/H synthase 1	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 4A	0	1	0	1
Prostaglandin G/H synthase 2	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 4B	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 4C	0	1	0	1
cAMP-specific 3',5'-cyclic phosphodiesterase 4D	0	1	0	1
DNA-binding protein Ikaros	0	0	0	1
DNA damage-binding protein 1	0	1	1	2
Protein cereblon	0	2	1	4
Chain A, CHORISMATE MUTASE	0	1	0	1
Chain A, TYROSYL-tRNA SYNTHETASE	0	0	1	1
Tubulin--tyrosine ligase	0	1	0	1
Taste receptor type 2 member 14	0	0	0	1
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]

Congenital Erythropoietic Porphyria

Synonyms(10)

Research Excerpts

Overview

Research

Studies (93)

Protein Targets (739)

Congenital Erythropoietic Porphyria

Synonyms(10)

Research Excerpts

Overview

Research

Studies (93)

Drugs Studied (68)

Protein Targets (739)