MCID: ACT078
MIFTS: 47

Acute Porphyria malady

Categories: Genetic diseases, Metabolic diseases, Rare diseases, Blood diseases, Liver diseases

Aliases & Classifications for Acute Porphyria

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Aliases & Descriptions for Acute Porphyria:

Name: Acute Porphyria 11 13
Porphyrias, Hepatic 39 68
 
Acute Intermittent Porphyria 68
Hepatic Porphyria 11

Classifications:



External Ids:

Disease Ontology11 DOID:3133
SNOMED-CT62 55056006
MeSH39 D017094

Summaries for Acute Porphyria

About this section
Disease Ontology:11 A porphyria that has symptom abdominal pain, has symptom neuropathy, has symptom autonomic instability and has symptom psychosis.

MalaCards based summary: Acute Porphyria, also known as porphyrias, hepatic, is related to porphyria cutanea tarda and coproporphyria, and has symptoms including abdominal pain, neuropathy and autonomic instability. An important gene associated with Acute Porphyria is HMBS (Hydroxymethylbilane Synthase), and among its related pathways are Glycine, serine and threonine metabolism and FOXA2 and FOXA3 transcription factor networks. The drugs chlorpromazine hydrochloride and chlorpromazine have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and bone, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

Related Diseases for Acute Porphyria

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Diseases in the Porphyria family:

acute porphyria Congenital Porphyria
Urod-Related Porphyrias

Diseases related to Acute Porphyria via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 38)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria cutanea tarda29.1CPOX, HFE, HMBS, PPOX, UROD, UROS
2coproporphyria28.4ALAS1, ALAS2, CPOX, FECH, HMBS, PPOX
3porphyria, acute hepatic11.7
4porphyria11.6
5protoporphyria, erythropoietic, autosomal recessive10.9
6porphyria, acute intermittent10.9
7y chromosome infertility10.0ALAS2, FECH
8neuropathy9.8
9metal metabolism disorder9.8ALAS1, ALAS2, FECH
10hepatitis9.7
11chester porphyria9.7
12aarskog-scott syndrome9.6ALAS2, FECH, UROS
13atransferrinemia9.5ALAS2, HFE
14myocardial infarction9.5
15acute myocardial infarction9.5
16atherosclerosis9.5
17brucellosis9.5
18cerebral atherosclerosis9.5
19polyneuropathy9.5
20pericarditis9.5
21constipation9.5
22cerebritis9.5
23hyperthyroidism9.5
24myocarditis9.5
25meningitis9.5
26binswanger's disease9.5
27chiari malformation9.5
28pyridoxine deficiency9.5
29encephalopathy9.5
30slate pneumoconiosis9.3HFE, UROD
31intestinal tuberculosis9.2ALAS2, FECH, UROD, UROS
32nasu-hakola disease9.1ALAS2, HFE, UROD
33migraine, with or without aura 139.0CPOX, FECH, HMBS, UROD, UROS
34palmoplantar keratoderma, nagashima type8.6ALAS2, CPOX, FECH, HMBS, PPOX, UROS
35inflammatory bowel disease 28, early onset, autosomal recessive8.4ALAS1, CPOX, FECH, HMBS, PPOX, UROD
36porphyria variegata8.0CPOX, FECH, HFE, HMBS, PPOX, UROD
37rift valley fever7.3ALAS1, ALAS2, CPOX, FECH, HFE, HMBS
38scalp dermatosis7.0ALAS1, ALAS2, CPOX, FECH, HFE, HMBS

Graphical network of the top 20 diseases related to Acute Porphyria:



Diseases related to acute porphyria

Symptoms & Phenotypes for Acute Porphyria

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Symptoms:

 11 (show all 4)
  • abdominal pain
  • neuropathy
  • autonomic instability
  • psychosis

UMLS symptoms related to Acute Porphyria:


hepatomegaly, abdominal pain, constipation, diarrhea, dysuria, nausea, seizures, vomiting, cushingoid facies, weakness

MGI Mouse Phenotypes related to Acute Porphyria according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.3FECH, HFE, HNF4A, NR1H2, UROD, UROS
2MP:00053766.7ALAS2, FECH, HFE, HMBS, HNF4A, NR1H2
3MP:00107685.6ALAS1, ALAS2, FECH, HFE, HMBS, HNF4A

Drugs & Therapeutics for Acute Porphyria

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Drugs for Acute Porphyria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Deferasiroxapproved, investigationalPhase 3, Phase 289201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox
2
IronapprovedPhase 3, Phase 211237439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
3
ColestipolapprovedPhase 2, Phase 3626658-42-4, 50925-79-662816
Synonyms:
Colestipolum
 
Colestipolum [INN-Latin]
Copolymer of bis(2-aminoethyl)amine and 2-(chloromethyl)oxirane
Epichlorohydrin-tetraethylenepentamine polymer
4alpha-MSHPhase 3, Phase 214
5HormonesPhase 3, Phase 213979
6Iron Chelating AgentsPhase 3, Phase 2222
7Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 212767
8Chelating AgentsPhase 3, Phase 21365
9Hormone AntagonistsPhase 3, Phase 212778
10Lipid Regulating AgentsPhase 2, Phase 32702
11Hypolipidemic AgentsPhase 2, Phase 32721
12AntimetabolitesPhase 2, Phase 311774
13cysteineNutraceuticalPhase 3190
14
HydroxychloroquineapprovedPhase 2146118-42-33652
Synonyms:
(+-)-Hydroxychloroquine
(┬▒)-hydroxychloroquine
118-42-3
2-((4-((7-Chloro-4-quinolyl)amino)pentyl)ethylamino)ethanol
2-((4-((7-chloro-4-Quinolyl)amino)pentyl)ethylamino)ethanol
2-(N-(4-(7-Chlor-4-chinolylamino)-4-methylbutyl)ethylamino)ethanol
2-[4-[(7-chloroquinolin-4-yl)amino]pentyl-ethylamino]ethanol
2-[{4-[(7-chloroquinolin-4-yl)amino]pentyl}(ethyl)amino]ethanol
5-22-10-00280 (Beilstein Handbook Reference)
7-Chloro-4-(4-(N-ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino)quinoline
7-Chloro-4-(4-(ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline
7-Chloro-4-(5-(N-ethyl-N-2-hydroxyethylamino)-2-pentyl)aminoquinoline
7-chloro-4-(4-(Ethyl(2-hydroxyethyl)amino)-1-methylbutylamino)quinoline
7-chloro-4-(4-(N-Ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino)quinoline
7-chloro-4-[4-(N-Ethyl-N-beta-hydroxyethylamino)-1-methylbutylamino]quinoline
7-chloro-4-[5-(N-Ethyl-N-2-hydroxyethylamino)-2-pentyl]aminoquinoline
747-36-4 (sulfate (1:1) salt)
AC1L1GEW
BRN 0253894
C07043
C18H26ClN3O
CHEMBL1535
CID3652
D08050
DB01611
DivK1c_000942
EINECS 204-249-8
Gen-Hydroxychloroquine 200mg Tablets
HCQ
HMS502P04
Hidroxicloroquina
 
Hidroxicloroquina [INN-Spanish]
Hydroxychlorochin
Hydroxychloroguine
Hydroxychloroquine (INN)
Hydroxychloroquine Sulfate (1:1) Salt
Hydroxychloroquine [INN:BAN]
Hydroxychloroquinum
Hydroxychloroquinum [INN-Latin]
IDI1_000942
Idrossiclorochina
Idrossiclorochina [DCIT]
KBio1_000942
LS-66614
MolPort-003-847-792
NCGC00159483-02
NINDS_000942
NSC4375
Oxichlorochine
Oxichlorochinum
Oxichloroquine
Oxychlorochin
Oxychloroquine
PlaqueN/A
Polirreumin
Polirreumin (TN)
Quensyl
SPBio_001116
ST072188
Spectrum2_001238
Spectrum5_001697
UNII-4QWG6N8QKH
WIN 1258
hydroxychloroquine
15Tin mesoporphyrinPhase 1, Phase 214
16
TinPhase 1, Phase 2707440-31-5
Synonyms:
CI Pigment metal 5
Haro Mix ZT-514
Innohep
Metallic tin
SN
 
Silver matt powder
Stanum
Tin flake
Tin powder
Tindamax
ZINN
17Anti-Infective AgentsPhase 221402
18Antiprotozoal AgentsPhase 21986
19Antirheumatic AgentsPhase 210627
20AntimalarialsPhase 21216
21Antiparasitic AgentsPhase 22127
22
Chlorpromazineapproved, vet_approvedPhase 11750-53-32726
Synonyms:
10-(3-Dimethylaminopropyl)-2-chlorophenothiazine
10H-Phenothiazine-10-propanamine, 2-chloro-N,N-dimethyl-, radical ion(1+)
2-Chloro-10-(3-(dimethylamino)propyl)phenothiazine
2-Chloro-10-[3-(dimethylamino)propyl]phenothiazine
2-Chloropromazine
2-Cloro-10 (3-dimetilaminopropil)fenotiazina
2-Cloro-10 (3-dimetilaminopropil)fenotiazina [Italian]
2-chloro-10-(3-(dimethylamino)propyl)-phenothiazine
2-chloro-N,N-dimethyl-10H-Phenothiazine-10-propanamine
2601A
3-(2-Chloro-10H-phenothiazin-10-yl)-N,N-dimethyl-1-propanamine
3-(2-Chlorophenothiazin-10-yl)-N,N-dimethyl-propan-1-amine
3-(2-chloro-10H-Phenothiazin-10-yl)-N,N-dimethyl-1-propanamine
3-(2-chloro-10H-phenothiazin-10-yl)-N,N-dimethylpropan-1-amine
3-(2-chlorophenothiazin-10-yl)-N,N-dimethyl-propan-1-amine
3-(2-chlorophenothiazin-10-yl)-N,N-dimethylpropan-1-amine
34468-21-8
4560 R.P
4560 R.P.
4560 Rp hydrochloride
50-53-3
AB00051943
AC1L1EBT
AKOS001490972
Aminasine
Aminazin
Aminazine
Ampliactil
Amplicitil
Amplictil
BAS 00010434
BC 135
BPBio1_000273
BPBio1_001181
BSPBio_000247
BSPBio_002011
Bio1_000457
Bio1_000946
Bio1_001435
Biomol-NT_000020
C06906
C17H19ClN2S
CAS-69-09-0
CCRIS 3711
CHEBI:3647
CHEMBL71
CID2726
CPZ
Chlor-PZ
Chlor-Promanyl
Chlordelazine
Chlorderazin
Chloro-3 (dimethylamino-3 propyl)-10 phenothiazine
Chloro-3 (dimethylamino-3 propyl)-10 phenothiazine [French]
Chloropromazine
Chlorpromados
Chlorpromanyl
Chlorpromanyl (discontinued)
Chlorpromanyl-20
Chlorpromanyl-40
Chlorpromazin
Chlorpromazine
Chlorpromazine (USP/INN)
Chlorpromazine Hydrochloride Intensol
Chlorpromazine Tannate
Chlorpromazine [USAN:INN:BAN]
Chlorpromazinum
Chlorpromazinum [INN-Latin]
Clorpromazina
Clorpromazina [INN-Spanish]
Clorpromazina [Italian]
Contomin
Cromedazine
D00270
DB00477
DivK1c_000624
EINECS 200-045-8
Elmarin
Esmind
Fenactil
Fenaktyl
Fraction AB
HL 5746
HMS1920M03
HMS2089C12
HMS2091E06
HMS501P06
HSDB 3033
 
I14-6226
IDI1_000624
JHICC02042
KBio1_000624
KBio2_000622
KBio2_002312
KBio2_003190
KBio2_004880
KBio2_005758
KBio2_007448
KBio3_001231
KBio3_002792
KBioGR_000806
KBioGR_002312
KBioSS_000622
KBioSS_002314
L000182
LS-105361
Largactil
Largactil Liquid
Largactil Oral Drops
Largactilothiazine
Largactyl
Lopac-C-8138
Lopac0_000249
Megaphen
MolPort-001-727-953
N-(3-Dimethylaminopropyl)-3-chlorophenothiazine
NCGC00015273-01
NCGC00015273-02
NCGC00015273-03
NCGC00015273-14
NCGC00024409-04
NCGC00024409-05
NCGC00024409-06
NCGC00024409-07
NCGC00024409-08
NINDS_000624
NSC 167745
NSC167745
NSC17479
Novo-Chlorpromazine
Novomazina
Oprea1_110255
Phenactyl
Phenathyl
Phenothiazine hydrochloride
Plegomasine
Plegomazin
Prazilpromactil
Prestwick0_000064
Prestwick1_000064
Prestwick2_000064
Prestwick3_000064
Proma
Promactil
Promazil
Propaphen
Propaphenin
Prozil
Psychozine
QTL1_000021
SKF 2601-A
SKF 2601A
SKF-2601
SPBio_001111
SPBio_002168
SPECTRUM1500184
SR-01000000012-5
STK182870
STOCK1S-46588
Sanopron
Spectrum2_001156
Spectrum3_000346
Spectrum4_000283
Spectrum5_000717
Spectrum_000142
Thorazine
Thorazine (TN)
Thorazine Spansule
Thorazine Suppositories
Thorazine hydrochloride
Torazina
UNII-U42B7VYA4P
WLN: T C666 BN ISJ B3N1&1 EG
Wintermin
Z80
[3-(2-Chloro-phenothiazin-10-yl)-propyl]-dimethyl-amine
cMAP_000017
chlorpromazine
23
DopamineapprovedPhase 1375951-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
24Gastrointestinal AgentsPhase 18109
25Neurotransmitter AgentsPhase 117734
26Tranquilizing AgentsPhase 14164
27Dopamine AntagonistsPhase 11083
28Psychotropic DrugsPhase 16279
29Peripheral Nervous System AgentsPhase 122776
30AntiemeticsPhase 13888
31Dopamine AgentsPhase 13759
32Antipsychotic AgentsPhase 12359
33Liver ExtractsPhase 13868
34Central Nervous System DepressantsPhase 112806
35Autonomic AgentsPhase 19774
36
Aminolevulinic acidapproved157106-60-5137
Synonyms:
106-60-5
35BEC718-C970-426A-9859-BF58284C60B4
5-ALA
5-Amino-4-oxo-Pentanoate
5-Amino-4-oxo-Pentanoic acid
5-Amino-4-oxopentanoate
5-Amino-4-oxopentanoic acid
5-Amino-4-oxovalerate
5-Amino-4-oxovaleric acid
5-Amino-Levulinate
5-Amino-Levulinic acid
5-Aminolaevulinate
5-Aminolaevulinic acid
5-Aminolevulinate
5-Aminolevulinic acid
5-amino-levulinate
5451-09-2
AC-054
AC1L18K9
AKOS003587520
ALA
ALA-PDT
Aladerm
Amino-levulinic acid
Aminolevulinate
Aminolevulinic
Aminolevulinic acid
BIDD:GT0260
BSPBio_003407
C00430
CCRIS 8958
CHEBI:17549
CHEMBL601
CID137
CPD000857229
 
D07567
DALA
DB00855
DivK1c_006954
EINECS 203-414-1
I14-10101
KBio1_001898
KBio2_002062
KBio2_004630
KBio2_007198
KBio3_002627
KBioGR_001176
KBioSS_002062
Kerastick
LMFA01100055
LS-101793
Levulinic acid, 5-amino- (8CI)
MLS001333097
MLS001333098
MolPort-001-788-423
NCGC00178086-01
Pentanoic acid, 5-amino-4-oxo- (9CI)
SAM002589919
SMR000857229
SPBio_001843
ST50819610
SpecPlus_000858
Spectrum2_001662
Spectrum3_001654
Spectrum4_000618
Spectrum5_001505
Spectrum_001582
UNII-88755TAZ87
delta-ALA
delta-Aminolevulinate
delta-Aminolevulinic acid
delta-aminolevulinic acid
37
Isoniazidapproved15054-85-33767
Synonyms:
37271-10-6
4-pyridinecarbohydrazide
41466-07-3
5015 R.P
5015 R.P.
5015 RP
54-85-3
62229-51-0
7640-37-1
AB00052025
AC1L1GNZ
AC1Q54UP
AC1Q54UQ
AI3-23936
AKOS000119062
AZT + Isoniazid
Abdizide
Andrazide
Anidrasona
Antimicina
Antituberkulosum
Armacide
Armazid
Armazide
Atcotibine
Azuren
BB_SC-6246
BIDD:GT0140
BP 5015
BPBio1_000025
BPBio1_001322
BSPBio_000021
BSPBio_002204
Bacillin
Biomol-NT_000288
C07054
C6H7N3O
CAS-54-85-3
CCRIS 351
CHEBI:6030
CHEMBL64
CID3767
CPD000059082
Cedin
Cedin (Aerosol)
Cemidon
Chemiazid
Chemidon
Continazine
Cortinazine
Cotinazin
Cotinizin
D00346
D007538
DB00951
Defonin
Dibutin
Diforin
Dinacrin
Ditubin
DivK1c_000070
Dow-Isoniazid
EINECS 200-214-6
Ebidene
Eralon
Ertuban
Eutizon
Evalon
FRS-3
FSR 3
FSR-3
Fetefu
Fimalene
GINK
HIA
HMS1568B03
HMS1920H09
HMS2089I16
HMS2091N19
HMS500D12
HSDB 1647
Hid rasonil
Hidranizil
Hidrasonil
Hidrulta
Hidrun
Hycozid
Hydra
Hydrazid
Hydrazide
Hyozid
Hyzyd
I.A.I
I.A.I.
I0138
I14-9731
I3377_FLUKA
I3377_SIGMA
IDI1_000070
INH
INHd20
Ido-tebin
Idrazil
In-73
Inah
Inh-Burgthal
Inizid
Iscotin
Isidrina
Ismazide
Isobicina
Isocid
Isocidene
Isocotin
Isohydrazide
Isokin
Isolyn
Isonerit
Isonex
Isoniacid
Isoniazid
Isoniazid & EEP
Isoniazid & Propolis
Isoniazid SA
Isoniazida
Isoniazide
Isoniazidum
Isonicazide
Isonicid
Isonico
Isonicotan
Isonicotil
Isonicotinhydrazid
Isonicotinic acid hydrazide
Isonicotinic hydrazide
Isonicotinohydrazide
Isonicotinoyl hydrazide
Isonicotinoylhydrazide
Isonicotinsaeurehydrazid
Isonicotinyl hydrazide
Isonicotinyl hydrazine
Isonicotinylhydrazine
Isonide
Isonidrin
Isonikazid
Isonilex
Isonin
Isonindon
Isonirit
Isoniton
Isonizida
Isonizide
Isopyrin
 
Isotamine
Isotebe
Isotebezid
Isotinyl
Isozid
Isozide
Isozyd
KBio1_000070
KBio2_001333
KBio2_003901
KBio2_006469
KBio3_001424
KBioGR_000423
KBioSS_001333
L 1945
LANIZID
LS-205
Laniazid
Laniazid (TN)
Laniozid
MLS000069444
MLS001055327
MolPort-000-141-557
Mybasan
NCGC00016244-01
NCGC00016244-02
NCGC00022648-03
NCGC00022648-04
NCGC00022648-05
NCGC00022648-06
NINDS_000070
NSC 9659
NSC9659
Neo-Tizide
Neoteben
Neoxin
Neumandin
Nevin
Niadrin
Nicazide
Nicetal
Nicizina
Niconyl
Nicotibina
Nicotibine
Nicotisan
Nicozide
Nidaton
Nidrazid
Nikozid
Niplen
Nitadon
Niteban
Nitebannsc 9659
Nydrazid
Nyscozid
Oprea1_396155
Pelazid
Percin
Phthisen
Preparation 6424
Prestwick0_000161
Prestwick1_000161
Prestwick2_000161
Prestwick3_000161
Prestwick_578
Pycazide
Pyreazid
Pyricidin
Pyridicin
Pyridine-4-carboxylic acid hydrazide
Pyrizidin
RP 5015
RP-5015
RU-EF-Tb
RY-EF-Tb
Raumanon
Razide
Retozide
Rifamate
Rimicid
Rimifon
Rimiphone
Rimitsid
Robiselin
Robisellin
Roxifen
S1937_Selleck
SAM002554904
SMR000059082
SPBio_000094
SPBio_001942
SPECTRUM1500355
STK086288
Sanohidrazina
Sauterazid
Sauterzid
Spectrum2_000107
Spectrum3_000472
Spectrum4_000022
Spectrum5_000876
Spectrum_000853
Stanozide
TB-Phlogin
TB-Razide
TB-Vis
Tebecid
Tebenic
Tebexin
Tebilon
Tebos
Teebaconin
Tekazin
Tibazide
Tibemid
Tibiazide
Tibinide
Tibison
Tibivis
Tibizide
Tibusan
Tisin
Tisiodrazida
Tizide
Tubazid
Tubazide
Tubeco
Tubecotubercid
Tuberian
Tubicon
Tubilysin
Tubizid
Tubomel
Tyvid
UNII-V83O1VOZ8L
Unicocyde
Unicozyde
Usaf cb-2
Vazadrine
Vederon
WLN: T6NJ DVMZ
ZINC00001590
Zidafimia
Zinadon
Zonazide
bacillen
bp 5 015
isoco tin
isoniazid
isozid e
nchembio884-comp3
nidra zid
rimif on
tebemid
tubercid
38
Protoporphyrin IXexperimental8553-12-8
Synonyms:
3,3'-(3,7,12,17-Tetramethyl-8,13-divinyl-21H,23H-porphine-2,18-diyl)-bis-propionate
3,3'-(3,7,12,17-Tetramethyl-8,13-divinyl-21H,23H-porphine-2,18-diyl)-bis-propionic acid
3,3'-(3,7,12,17-Tetramethyl-8,13-divinylporphine-2,18-diyl)di
Kammerer'S prophyrin
Ooporphyrin
 
Porphyrinogen IX
PpIX
Protoporphyrin
Protoporphyrin IX
Protoporphyrin-"IX"
Protoporphyrin-IX
39Trace Elements5802
40Micronutrients5802
41Photosensitizing Agents476
42Anti-Bacterial Agents10884
43Dermatologic Agents5674
44Antitubercular Agents1272
45Iron SupplementNutraceutical175

Interventional clinical trials:

(show all 37)
idNameStatusNCT IDPhase
1Phase III Confirmatory Study in Erythropoietic ProtoporphyriaUnknown statusNCT01605136Phase 3
2Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea TardaCompletedNCT00599326Phase 3
3Sorbent Therapy of the Cutaneous PorphyriasCompletedNCT01422915Phase 2, Phase 3
4Phase III Study of L-Cysteine in Patients With Erythropoietic ProtoporphyriaCompletedNCT00004940Phase 3
5Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP)CompletedNCT00979745Phase 3
6Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea TardaUnknown statusNCT01284946Phase 2
7Heme Arginate in Cardiac Surgery PatientsUnknown statusNCT02142699Phase 2
8Porphozym in the Treatment of Acute Attacks in AIPCompletedNCT00418795Phase 2
9Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP)CompletedNCT01097044Phase 2
10Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute PorphyriaCompletedNCT00004789Phase 1, Phase 2
11Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute PorphyriasCompletedNCT00004396Phase 2
12Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea TardaRecruitingNCT01573754Phase 2
13Panhematin for Prevention of Acute Attacks of Porphyria Panhematin for Prevention of Acute Attacks of PorphyriaRecruitingNCT02922413Phase 2
14Controlled Trial of Panhematin in Treatment of Acute Attacks of PorphyriaRecruitingNCT02180412Phase 2
15A Study to Evaluate Long-term Safety and Clinical Activity of ALN-AS1 in Patient With Acute Intermittent Porphyria (AIP)Enrolling by invitationNCT02949830Phase 1, Phase 2
16Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent PorphyriaCompletedNCT02082860Phase 1
17Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine HydrochlorideCompletedNCT02943213Phase 1
18Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of PorphyriaCompletedNCT00004398Phase 1
19Hemin in Healthy SubjectsCompletedNCT00882804Phase 1
20Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of PorphyriaCompletedNCT00004397Phase 1
21A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP)RecruitingNCT02452372Phase 1
22Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic ProtoporphyriaUnknown statusNCT00206869
23Risk Factors of Porphyria Cutanea Tarda (PCT)CompletedNCT00213772
24Study of the Pathogenesis of Porphyria Cutanea TardaCompletedNCT00005103
25Observational Study of Acute Intermittent Porphyria PatientsCompletedNCT02076763
26Study of Cysteine Hydrochloride for Erythropoietic ProtoporphyriaCompletedNCT00004831
27Study of Nutritional Factors in PorphyriaCompletedNCT00004788
28Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic AttacksCompletedNCT00004330
29Longitudinal Study of the PorphyriasRecruitingNCT01561157
30Clinical Diagnosis of Acute PorphyriaRecruitingNCT01568554
31Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial ImpactRecruitingNCT01688895
32Oral Iron for Erythropoietic ProtoporphyriasRecruitingNCT02979249
33EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)Active, not recruitingNCT02240784
34Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))Active, not recruitingNCT01880983
35Acute Porphyria BiomarkersEnrolling by invitationNCT02935400
36Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)Not yet recruitingNCT01617642
37Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic ProtoporphyriaTerminatedNCT01550705

Search NIH Clinical Center for Acute Porphyria

Inferred drug relations via UMLS68/NDF-RT46:


Cochrane evidence based reviews: porphyrias, hepatic

Genetic Tests for Acute Porphyria

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Anatomical Context for Acute Porphyria

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MalaCards organs/tissues related to Acute Porphyria:

36
Liver, Testes, Bone, Bone marrow, Pineal, Globus pallidus, Brain

Publications for Acute Porphyria

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Articles related to Acute Porphyria:

(show top 50)    (show all 264)
idTitleAuthorsYear
1
Radiopharmaceuticals in Acute Porphyria. (27568214)
2016
2
Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center. (28025645)
2016
3
Acute Porphyria Presenting as Major Trauma: Case Report and Literature Review. (27624508)
2016
4
Role of delta-aminolevulinic acid in the symptoms of acute porphyria. (25446301)
2015
5
Acute porphyria precipitated by efavirenz. (25909830)
2015
6
Acute porphyria in a patient with Arnold Chiari malformation. (25697467)
2015
7
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms. (25762493)
2015
8
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias. (25445397)
2015
9
Successful administration of sugammadex in a patient with acute porphyria: A case report. (24992602)
2014
10
Lead poisoning mimicking acute porphyria! (25653942)
2014
11
Acute Porphyrias in the USA: Features of 108 Subjects from Porphyria Consortium. (25016127)
2014
12
Acute porphyria presenting as epilepsia partialis continua. (23898283)
2013
13
Alterations of the redox state, pentose pathway and glutathione metabolism in an acute porphyria model. Their impact on heme pathway. (23390166)
2013
14
Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow-up. (22851509)
2012
15
How porphyrinogenic drugs modeling acute porphyria impair the hormonal status that regulates glucose metabolism. Their relevance in the onset of this disease. (21889565)
2011
16
Schizoaffective disorder with missed diagnosis of acute porphyria: a case report and overview. (22454794)
2011
17
Sustained enzymatic correction by rAAV-mediated liver gene therapy protects against induced motor neuropathy in acute porphyria mice. (20877347)
2011
18
A retrospective analysis of outcome of pregnancy in patients with acute porphyria. (20567908)
2010
19
Acute porphyria precipitated by nevirapine. (20940539)
2010
20
Evaluation of gonadotropin-releasing hormone agonist treatment for prevention of menstrual-related attacks in acute porphyria. (20021268)
2010
21
Thomas Wakley, King George III and acute porphyria. (19966121)
2009
22
Diagnostic strategies for autosomal dominant acute porphyrias: retrospective analysis of 467 unrelated patients referred for mutational analysis of the HMBS, CPOX, or PPOX gene. (19460837)
2009
23
Identifying acute porphyria in patients with acute polyneuropathy or encephalopathy. (19002132)
2008
24
Hepatic alteration of tryptophan metabolism in an acute porphyria model Its relation with gluconeogenic blockage. (17996218)
2008
25
Nitric oxide and the clinical manifestations of acute porphyria. (19143888)
2008
26
Guide to drug porphyrogenicity prediction and drug prescription in the acute porphyrias. (17578481)
2007
27
Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria. (18221605)
2007
28
Immunosuppressive therapy for acute porphyria: safety and efficacy in a patient with bone marrow failure. (17064214)
2006
29
Open-label study of hemin for acute porphyria: clinical practice implications. (16945618)
2006
30
(Far) Outside the box: genomic approach to acute porphyria. (17298222)
2006
31
ED presentation of acute porphyria. (15765337)
2005
32
Response of glucose metabolism enzymes in an acute porphyria model. Role of reactive oxygen species. (16125296)
2005
33
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. (15534187)
2004
34
Clinical features predictive of a poor prognosis in acute porphyria. (15645362)
2004
35
Treatment of acute porphyrias. The importance of follow-up of patients and carriers]. (12809070)
2003
36
Acute porphyrias in the Argentinean population: a review. (12899439)
2003
37
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
38
Treatment of acute porphyria. (11480131)
2001
39
Study of motor and sensory nerve conduction velocities, late responses (F-wave and H-reflex) and somatosensory evoked potential in latent phase of intermittent acute porphyria. (10746181)
2000
40
Lipoprotein abnormalities in patients with asymptomatic acute porphyria. (10727671)
2000
41
Acute porphyria following commencement of indinavir. (10203389)
1999
42
A new approach for the treatment of acute porphyria. (10361901)
1999
43
Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. (10207164)
1999
44
Acute porphyria: the cost of suspicion. (10625031)
1999
45
The effect of therapeutic drugs and other pharmacologic agents on activity of porphobilinogen deaminase, the enzyme that is deficient in intermittent acute porphyria. (10416826)
1999
46
Acute porphyria: treatment with heme. (9516678)
1998
47
Identification of acute porphyria: evaluation of a commercial screening test for urinary porphobilinogen. (9838985)
1998
48
Primary liver cancer in two sisters in Holland with intermittent acute porphyria. (9254746)
1997
49
Drug treatment in acute porphyria. (9384458)
1997
50
King George III and acute porphyria. (9024414)
1997

Variations for Acute Porphyria

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Clinvar genetic disease variations for Acute Porphyria:

5 (show all 41)
id Gene Variation Type Significance SNP ID Assembly Location
1HMBSHMBS, EX12DELdeletionPathogenicChr na, -1: -1
2HMBSNM_000190.3(HMBS): c.77G> A (p.Arg26His)SNVPathogenicrs118204103GRCh37Chr 11, 118959008: 118959008
3HMBSNM_000190.3(HMBS): c.346C> T (p.Arg116Trp)SNVPathogenicrs118204094GRCh37Chr 11, 118960701: 118960701
4HMBSNM_000190.3(HMBS): c.500G> A (p.Arg167Gln)SNVPathogenicrs118204095GRCh37Chr 11, 118962124: 118962124
5HMBSNM_000190.3(HMBS): c.518G> A (p.Arg173Gln)SNVPathogenicrs118204096GRCh37Chr 11, 118962142: 118962142
6HMBSNM_000190.3(HMBS): c.463C> T (p.Gln155Ter)SNVPathogenicrs118204097GRCh37Chr 11, 118960940: 118960940
7HMBSNM_000190.3(HMBS): c.446G> A (p.Arg149Gln)SNVPathogenicrs118204098GRCh37Chr 11, 118960923: 118960923
8HMBSNM_000190.3(HMBS): c.734T> G (p.Leu245Arg)SNVPathogenicrs118204099GRCh37Chr 11, 118963196: 118963196
9HMBSHMBS, 1-BP DEL, 900TdeletionPathogenicChr na, -1: -1
10HMBSHMBS, 9-BP DEL, EX10deletionPathogenicChr na, -1: -1
11HMBSNM_000190.3(HMBS): c.593G> A (p.Trp198Ter)SNVPathogenicrs118204100GRCh37Chr 11, 118962217: 118962217
12HMBSNM_000190.3(HMBS): c.91G> A (p.Ala31Thr)SNVPathogenicrs118204104GRCh37Chr 11, 118959348: 118959348
13HMBSNM_000190.3(HMBS): c.100C> A (p.Gln34Lys)SNVPathogenicrs118204105GRCh37Chr 11, 118959357: 118959357
14HMBSNM_000190.3(HMBS): c.499C> T (p.Arg167Trp)SNVPathogenicrs118204101GRCh37Chr 11, 118962123: 118962123
15HMBSNM_000190.3(HMBS): c.500G> T (p.Arg167Leu)SNVPathogenicrs118204095GRCh37Chr 11, 118962124: 118962124
16HMBSNM_000190.3(HMBS): c.163G> T (p.Ala55Ser)SNVPathogenicrs118204106GRCh37Chr 11, 118959794: 118959794
17HMBSHMBS, 1-BP DEL, 174CdeletionPathogenicChr na, -1: -1
18HMBSHMBS, 1-BP INS, 182GinsertionPathogenicChr na, -1: -1
19HMBSHMBS, IVS5DS, G-A, +1SNVPathogenicChr na, -1: -1
20HMBSNM_000190.3(HMBS): c.601C> T (p.Arg201Trp)SNVPathogenicrs118204109GRCh37Chr 11, 118962225: 118962225
21HMBSHMBS, 2-BP DEL, 218AGdeletionPathogenicChr na, -1: -1
22HMBSNM_000190.3(HMBS): c.331G> A (p.Gly111Arg)SNVPathogenicrs118204107GRCh37Chr 11, 118960457: 118960457
23HMBSHMBS, IVS9AS, G-A, -1SNVPathogenicChr na, -1: -1
24HMBSNM_000190.3(HMBS): c.530T> G (p.Leu177Arg)SNVPathogenicrs118204108GRCh37Chr 11, 118962154: 118962154
25HMBSNM_000190.3(HMBS): c.667G> A (p.Glu223Lys)SNVPathogenicrs118204110GRCh37Chr 11, 118963129: 118963129
26HMBSHMBS, 2-BP DEL, 730CTdeletionPathogenicChr na, -1: -1
27HMBSNM_000190.3(HMBS): c.739T> C (p.Cys247Arg)SNVPathogenicrs118204111GRCh37Chr 11, 118963201: 118963201
28HMBSHMBS, 8-BP INSinsertionPathogenicChr na, -1: -1
29HMBSNM_000190.3(HMBS): c.748G> A (p.Glu250Lys)SNVPathogenicrs118204112GRCh37Chr 11, 118963210: 118963210
30HMBSNM_000190.3(HMBS): c.754G> A (p.Ala252Thr)SNVPathogenicrs118204113GRCh37Chr 11, 118963216: 118963216
31HMBSNM_000190.3(HMBS): c.755C> T (p.Ala252Val)SNVPathogenicrs118204114GRCh37Chr 11, 118963217: 118963217
32HMBSNM_000190.3(HMBS): c.766C> A (p.His256Asn)SNVPathogenicrs118204115GRCh37Chr 11, 118963228: 118963228
33HMBSHMBS, IVS12DS, G-C, +1SNVPathogenicChr na, -1: -1
34HMBSHMBS, IVS14DS, G-A, +1SNVPathogenicChr na, -1: -1
35HMBSHMBS, IVS6DS, G-C, +1SNVPathogenicChr na, -1: -1
36HMBSNM_000190.3(HMBS): c.647G> A (p.Gly216Asp)SNVPathogenicrs118204116GRCh37Chr 11, 118962869: 118962869
37HMBSHMBS, 2-BP DEL, 847TGdeletionPathogenicChr na, -1: -1
38HMBSHMBS, ALU INSinsertionPathogenicChr na, -1: -1
39HMBSNM_000190.3(HMBS): c.849G> A (p.Trp283Ter)SNVPathogenicrs118204117GRCh37Chr 11, 118963668: 118963668
40HMBSNM_000190.3(HMBS): c.242T> C (p.Leu81Pro)SNVPathogenicrs118204119GRCh37Chr 11, 118959958: 118959958
41HMBSNM_000190.3(HMBS): c.445C> T (p.Arg149Ter)SNVPathogenicrs118204120GRCh37Chr 11, 118960922: 118960922

Expression for genes affiliated with Acute Porphyria

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Search GEO for disease gene expression data for Acute Porphyria.

GO Terms for genes affiliated with Acute Porphyria

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Cellular components related to Acute Porphyria according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial matrixGO:00057599.7ALAS1, ALAS2, FECH, PC
2mitochondrionGO:00057397.7ALAS1, ALAS2, CPOX, FECH, PC, PPOX

Biological processes related to Acute Porphyria according to GeneCards Suite gene sharing:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1cellular response to dexamethasone stimulusGO:007154910.6FECH, HMBS
2protoporphyrinogen IX metabolic processGO:004650110.5FECH, PPOX
3response to arsenic-containing substanceGO:004668510.4CPOX, FECH
4cellular response to amine stimulusGO:007141810.4HMBS, UROS
5porphyrin-containing compound biosynthetic processGO:000677910.3PPOX, UROS
6response to insecticideGO:001708510.3CPOX, FECH
7response to lead ionGO:001028810.3CPOX, FECH
8cellular response to arsenic-containing substanceGO:007124310.0HMBS, UROD, UROS
9cellular iron ion homeostasisGO:000687910.0ALAS2, HFE
10lipid homeostasisGO:00550889.8HNF4A, NR1H2
11positive regulation of fatty acid biosynthetic processGO:00457239.8HNF4A, NR1H2
12response to iron ionGO:00100399.7CPOX, HFE, UROD
13response to methylmercuryGO:00515979.6CPOX, FECH, HMBS, UROD
14response to drugGO:00424939.3FECH, HMBS, HNF4A, PPOX
15steroid hormone mediated signaling pathwayGO:00434019.1HNF4A, NR1H2
16protoporphyrinogen IX biosynthetic processGO:00067828.3ALAS1, ALAS2, CPOX, HMBS, PPOX, UROD
17heme biosynthetic processGO:00067838.1ALAS1, ALAS2, CPOX, FECH, HMBS, PPOX

Molecular functions related to Acute Porphyria according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1ferrous iron bindingGO:000819810.4FECH, UROD
2coenzyme bindingGO:005066210.2ALAS2, HMBS
35-aminolevulinate synthase activityGO:000387010.1ALAS1, ALAS2
4pyridoxal phosphate bindingGO:003017010.1ALAS1, ALAS2
5uroporphyrinogen-III synthase activityGO:00048529.8HMBS, UROS
6RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA bindingGO:00048799.6HNF4A, NR1H2
7steroid hormone receptor activityGO:00037078.8HNF4A, NR1H2

Sources for Acute Porphyria

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet