MCID: PRP029
MIFTS: 59

Porphyria malady

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

Aliases & Classifications for Porphyria

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Aliases & Descriptions for Porphyria:

Name: Porphyria 11 71 48 25 27 50 38 13
Hematoporphyria 11 25
Disorder of Porphyrin and Hem Metabolism 11
Disorders of Porphyrin Metabolism 68
 
Disorder of Porphyrin Metabolism 11
Porphyrin Disorder 25
Porphyrinopathy 11
Porphyrias 39

Classifications:



External Ids:

Disease Ontology11 DOID:13268
ICD1030 E80.20
ICD9CM32 277.1
MeSH39 D011164
NCIt45 C97096

Summaries for Porphyria

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MedlinePlus:38 Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. there are two main types of porphyrias. one affects the skin and the other affects the nervous system. people with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. the nervous system type is called acute porphyria. symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. these symptoms come and go. certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress, and sun exposure. attacks develop over hours or days. they can last for days or weeks. porphyria can be hard to diagnose. it requires blood, urine, and stool tests. each type of porphyria is treated differently. treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. people who have severe attacks may need to be hospitalized. nih: national institute of diabetes and digestive and kidney diseases

MalaCards based summary: Porphyria, also known as hematoporphyria, is related to lymphoid leukemia and porphyria cutanea tarda, and has symptoms including abdominal pain, abdominal pain and constipation. An important gene associated with Porphyria is HMBS (Hydroxymethylbilane Synthase), and among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. Affiliated tissues include skin, liver and bone marrow, and related mouse phenotypes are Increased number of mitotic cells and liver/biliary system.

Disease Ontology:11 An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.

Genetics Home Reference:25 Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood).

NIH Rare Diseases:48 Porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body’s organs. major types include alad deficiency porphyria, acute intermittent porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria. the most common type of porphyria is porphyria cutanea tarda. some of the symptoms of porphyria include blistering, swelling, and itching when the skin is exposed to sun. other symptoms may also include pain, numbness or tingling, vomiting, constipation, and intellectual disability. there is no known cure for porphyria, but the various types have different courses of treatment, and may include bone marrow transplant.most porphyrias are inherited conditions with either an autosomal dominant or autosomal recessive pattern of inheritance. however, some forms of porphyria can be caused by environmental factors such as infections or exposures to certain prescription drugs. porphyrias caused by environmental factors are called sporadic or acquired porphyria. last updated: 3/22/2017

Wikipedia:71 Porphyria is a group of diseases in which substances called porphyrins build up, affecting the skin or... more...

Related Diseases for Porphyria

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Diseases in the Porphyria family:

Acute Porphyria Urod-Related Porphyrias

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

(show top 50)    (show all 221)
idRelated DiseaseScoreTop Affiliating Genes
1lymphoid leukemia28.9FECH, HFE, TF
2porphyria cutanea tarda12.6
3porphyria, acute intermittent12.5
4porphyria variegata12.5
5porphyria, congenital erythropoietic12.4
6porphyria, acute hepatic12.3
7chester porphyria12.3
8acute porphyria12.2
9porphyria cutanea tarda, type i12.2
10coproporphyria12.1
11cutaneous porphyria12.1
12familial porphyria cutanea tarda12.0
13aminolevulinate dehydratase deficiency porphyria11.9
14urod-related porphyrias11.8
15protoporphyria, erythropoietic, autosomal recessive11.4
16protoporphyria, erythropoietic, x-linked11.2
17hydrops fetalis, nonimmune10.7
18ala dehydratase deficiency10.7
19hepatitis10.6
20hepatitis c10.4
21hepatitis c virus10.2
22erythropoietic uroporphyria associated with myeloid malignancy10.2
23hemochromatosis10.2
2416q24.3 microdeletion syndrome10.1ALAS2, FECH
25muscular dystrophy, congenital, 1b10.1HFE, UROD
26dermatoleukodystrophy10.1HFE, TF
27lupus erythematosus10.1
28tmem216-related meckel syndrome10.1HFE, TF
29crater-like holes of optic disc10.1FECH, UROD, UROS
30harp syndrome10.1HFE, TF
31tmem231-related joubert syndrome10.1HFE, TF
32kaolin pneumoconiosis10.0HFE, TF, UROD
33post-thrombotic syndrome10.0HFE, TF
34hepatocellular carcinoma10.0
35neuropathy10.0
36episcleritis periodica fugax10.0HFE, TF
37nasu-hakola disease10.0HFE, TF, UROD
38systemic lupus erythematosus10.0
39posterior uveal melanoma10.0FECH, HFE, TF
40facial paresis, hereditary congenital, 19.9ALAS2, HFE, TF
41leukemia9.9
42encephalopathy9.9
43neuronal ceroid-lipofuscinoses9.9ALAS2, HFE, TF
44epilepsy9.9
45thalassemia-beta, dominant inclusion-body9.8GATA1, HFE, TF
46liver disease9.8
47viral hepatitis9.8
48tracheal cancer9.8GATA1, HFE, TF
49adenosine triphosphate, elevated, of erythrocytes9.8GATA1, HFE
50siderosis9.8

Comorbidity relations with Porphyria via Phenotypic Disease Network (PDN):


Hypertension, Essential

Graphical network of the top 20 diseases related to Porphyria:



Diseases related to porphyria

Symptoms & Phenotypes for Porphyria

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Human phenotypes related to Porphyria:

 64 (show all 22)
id Description HPO Frequency HPO Source Accession
1 hallucinations64 HP:0000738
2 hypertension64 HP:0000822
3 pruritus64 HP:0000989
4 cutaneous photosensitivity64 HP:0000992
5 abnormality of skin pigmentation64 HP:0001000
6 seizures64 HP:0001250
7 muscle weakness64 HP:0001324
8 fever64 HP:0001945
9 diarrhea64 HP:0002014
10 nausea and vomiting64 HP:0002017
11 constipation64 HP:0002019
12 abdominal pain64 HP:0002027
13 anorexia64 HP:0002039
14 sleep disturbance64 HP:0002360
15 paresthesia64 HP:0003401
16 dupuytren contracture64 HP:0005679
17 abnormal blistering of the skin64 HP:0008066
18 abnormality of the heme biosynthetic pathway64 HP:0010472
19 abnormal urinary color64 HP:0012086
20 fatigue64 HP:0012378
21 cerebral palsy64 HP:0100021
22 chest pain64 HP:0100749

UMLS symptoms related to Porphyria:


abdominal pain, constipation, diarrhea, dyspepsia, exanthema, heartburn, icterus, nausea and vomiting, pruritus, gastrointestinal gas

GenomeRNAi Phenotypes related to Porphyria according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00098-A-39.5CPOX, GATA1, TF

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5CYP1A2, FECH, GATA1, HFE, UROD, UROS
2MP:00053766.9ALAS2, CYP1A2, FECH, GATA1, HFE, HMBS
3MP:00107685.7ALAS1, ALAS2, CYP1A2, FECH, GATA1, HFE

Drugs & Therapeutics for Porphyria

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

(show all 49)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronapprovedPhase 3, Phase 211657439-89-623925
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
2
Deferasiroxapproved, investigationalPhase 3, Phase 289201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox
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
5Iron Chelating AgentsPhase 3, Phase 2226
6Hormone AntagonistsPhase 3, Phase 213180
7Chelating AgentsPhase 3, Phase 21423
8HormonesPhase 3, Phase 214415
9Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 213168
10AntimetabolitesPhase 2, Phase 312054
11Lipid Regulating AgentsPhase 2, Phase 32766
12Hypolipidemic AgentsPhase 2, Phase 32785
13cysteineNutraceuticalPhase 3200
14
HydroxychloroquineapprovedPhase 2154118-42-33652
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
15
LedipasvirapprovedPhase 21071256388-51-867505836
Synonyms:
 
methyl [(2S)-1-{(6S)-6-[4-(9,9-difluoro-7-{2-[(1R,3S,4S)-2-{(2S)-2-[(methoxycarbonyl)amino]-3-methylbutanoyl}-2-azabicyclo[2.2.1]hept-3-yl]-1H-benzimidazol-5-yl}-9H-fluoren-2-yl)-1H-imidazol-2-yl]-5-azaspiro[2.4]hept-5-yl}-3-methyl-1-oxobutan-2-yl]carbamate
16
SofosbuvirapprovedPhase 22591190307-88-045375808
Synonyms:
 
S)-Isopropyl 2-((S)-(((2R,3R,4R,5R)-5-(2,4-dioxo-3,4- dihydropyrimidin-1(2H)-yl)-4-fluoro-3-hydroxy-4-methyltetrahydrofuran-2-yl)methoxy)- (phenoxy)phosphorylamino)propanoate
SOVALDI
17Tin mesoporphyrinPhase 1, Phase 214
18
TinPhase 1, Phase 2737440-31-5
Synonyms:
CI Pigment metal 5
Haro Mix ZT-514
Innohep
Metallic tin
SN
 
Silver matt powder
Stanum
Tin flake
Tin powder
Tindamax
ZINN
19Antiprotozoal AgentsPhase 22051
20AntimalarialsPhase 21246
21Antiparasitic AgentsPhase 22199
22Antirheumatic AgentsPhase 210956
23Anti-Infective AgentsPhase 222062
24Ledipasvir, sofosbuvir drug combinationPhase 256
25Antiviral AgentsPhase 29967
26
DopamineapprovedPhase 1383651-61-6, 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
27
Chlorpromazineapproved, vet_approvedPhase 11850-53-32726
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
28Gastrointestinal AgentsPhase 18402
29Tranquilizing AgentsPhase 14265
30Dopamine AntagonistsPhase 11093
31Psychotropic DrugsPhase 16430
32Peripheral Nervous System AgentsPhase 123689
33Neurotransmitter AgentsPhase 118340
34Dopamine AgentsPhase 13836
35Central Nervous System DepressantsPhase 113403
36AntiemeticsPhase 14022
37Liver ExtractsPhase 14067
38Autonomic AgentsPhase 110150
39Antipsychotic AgentsPhase 12401
40
Aminolevulinic acidapproved165106-60-5137
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
41
Isoniazidapproved15554-85-33767
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
42
Protoporphyrin IXexperimental9553-12-8
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
43Trace Elements6001
44Micronutrients6001
45Photosensitizing Agents492
46Anti-Bacterial Agents11226
47Dermatologic Agents5806
48Antitubercular Agents1343
49Iron SupplementNutraceutical180

Interventional clinical trials:

(show all 40)
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
8Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute PorphyriaCompletedNCT00004789Phase 1, Phase 2
9Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute PorphyriasCompletedNCT00004396Phase 2
10Porphozym in the Treatment of Acute Attacks in AIPCompletedNCT00418795Phase 2
11Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP)CompletedNCT01097044Phase 2
12Panhematin for Prevention of Acute Attacks of Porphyria Panhematin for Prevention of Acute Attacks of PorphyriaRecruitingNCT02922413Phase 2
13Controlled Trial of Panhematin in Treatment of Acute Attacks of PorphyriaRecruitingNCT02180412Phase 2
14Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea TardaRecruitingNCT01573754Phase 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
16Harvoni Treatment Porphyria Cutanea TardaNot yet recruitingNCT03118674Phase 2
17Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent PorphyriaCompletedNCT02082860Phase 1
18Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of PorphyriaCompletedNCT00004398Phase 1
19Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of PorphyriaCompletedNCT00004397Phase 1
20Hemin in Healthy SubjectsCompletedNCT00882804Phase 1
21Assessment of Intra-subject Variability in the Bioavailability of Chlorpromazine HydrochlorideCompletedNCT02943213Phase 1
22A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP)RecruitingNCT02452372Phase 1
23Studies in Porphyria I: Characterization of Enzyme DefectsUnknown statusNCT00004331
24Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic ProtoporphyriaUnknown statusNCT00206869
25Observational Study of Acute Intermittent Porphyria PatientsCompletedNCT02076763
26Risk Factors of Porphyria Cutanea Tarda (PCT)CompletedNCT00213772
27Study of Nutritional Factors in PorphyriaCompletedNCT00004788
28Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic AttacksCompletedNCT00004330
29Study of the Pathogenesis of Porphyria Cutanea TardaCompletedNCT00005103
30Diagnostic and Screening Study of Genetic DisordersCompletedNCT00006057
31Study of Cysteine Hydrochloride for Erythropoietic ProtoporphyriaCompletedNCT00004831
32EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)RecruitingNCT02240784
33Longitudinal Study of the PorphyriasRecruitingNCT01561157
34Clinical Diagnosis of Acute PorphyriaRecruitingNCT01568554
35Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial ImpactRecruitingNCT01688895
36Oral Iron for Erythropoietic ProtoporphyriasRecruitingNCT02979249
37Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))Active, not recruitingNCT01880983
38Acute Porphyria BiomarkersEnrolling by invitationNCT02935400
39Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)Not yet recruitingNCT01617642
40Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic ProtoporphyriaTerminatedNCT01550705

Search NIH Clinical Center for Porphyria


Cochrane evidence based reviews: porphyrias

Genetic Tests for Porphyria

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Genetic tests related to Porphyria:

id Genetic test Affiliating Genes
1 Porphyria27

Anatomical Context for Porphyria

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MalaCards organs/tissues related to Porphyria:

36
Skin, Liver, Bone marrow, Bone, Testes, Kidney, Brain

Publications for Porphyria

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Articles related to Porphyria:

(show top 50)    (show all 2115)
idTitleAuthorsYear
1
Porphyria Cutanea Tarda in a Patient with End-Stage Renal Disease: A Case of Successful Treatment with Deferoxamine and Ferric Carboxymaltose. (28210512)
2017
2
Direct-acting antivirals for hepatitis C virus induce a rapid clinical and biochemical remission of porphyria cutanea tarda. (28369802)
2017
3
Porphyria cutanea tarda: an intriguing genetic disease and marker. (28321838)
2017
4
A case of porphyria cutanea tarda of the liver exhibiting multifocal macrovesicular steatosis in the background of microvesicular steatosis, probably caused by uneven iron accumulation. (28130583)
2017
5
Porphyria Cutanea Tarda as the Initial Manifestation of Subclinical Hereditary Hemochromatosis. (28479501)
2017
6
Anti-HCV for porphyria cutanea tarda. (28133909)
2017
7
Porphyria cutanea tardaA in a patient with hepatitis C. (28416230)
2017
8
sQuiz your knowledge: Expanding scarring alopecia in a patient with porphyria cutanea tarda. (28400347)
2017
9
Squamous cell carcinoma of the penis successfully treated with imiquimod 5% cream in a porphyria cutanea tarda patient. (27767238)
2016
10
Human immunodeficiency virus and risk of porphyria cutanea tarda: a possible association examined in a large hospital. (26576928)
2016
11
Can curative antivirals benefit porphyria cutanea tarda in hepatitis C patients? (27550066)
2016
12
Radiopharmaceuticals in Acute Porphyria. (27568214)
2016
13
Human Immunodeficiency Virus Associated Sporadic Nonfamilial Porphyria Cutanea Tarda. (27293254)
2016
14
Illness Perception and Psychological Distress in Persons with Porphyria Cutanea Tarda. (26775575)
2016
15
Phase I Open Label Liver-Directed Gene Therapy Clinical Trial for Acute Intermittent Porphyria. (27212246)
2016
16
A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report. (27891417)
2016
17
Hepatic porphyria: A narrative review. (27796941)
2016
18
Porphyria and Vampirism-A Myth, Sensationalized. (27627037)
2016
19
Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study. (27595545)
2016
20
Acute Intermittent Porphyria: A Diagnostic Challenge. (27617074)
2016
21
A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease. (28031405)
2016
22
Advances in understanding the pathogenesis of congenital erythropoietic porphyria. (26969896)
2016
23
A Rare Case of Puberty Onset Congenital Erythropoietic Porphyria with Ophthalmological Manifestations. (26957860)
2016
24
What hematologists need to know about acute hepatic porphyria. (27930636)
2016
25
Acute intermittent porphyria precipitated by atazanavir/ritonavir. (26872826)
2016
26
Porphyria or Catatonia: Diagnostic Dilemma on the Medical Wards. (27027143)
2016
27
Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients. (27788171)
2016
28
Haplotype Study in Argentinean Variegate Porphyria Patients. (27216491)
2016
29
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6. (27507172)
2016
30
Methotrexate and actinomycin D chemotherapy in a patient with porphyria: a case report. (26781485)
2016
31
Acute variegate porphyria presenting with reversible cerebral vasoconstriction. (27186968)
2016
32
Porphyria cutanea tarda associated with HFE C282Y homozygosity, iron overload, and use of a contraceptive vaginal ring. (26908385)
2016
33
Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria. (27627571)
2016
34
Emerging therapies for acute intermittent porphyria. (27804912)
2016
35
Acute intermittent porphyria-related leukoencephalopathy. (27558376)
2016
36
Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome and lateralized periodic discharges plus fast activity on EEG. (27660746)
2016
37
Acute Intermittent Porphyria in children: A case report and review of the literature. (27769855)
2016
38
Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center. (28025645)
2016
39
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. (27539938)
2016
40
Elective cholecystectomy performed on patient with variegate porphyria-Propofol-based total intravenous anesthesia with target-controlled infusion. (27871506)
2016
41
Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence. (27859603)
2016
42
Porphyria Cutanea Tarda. (27669078)
2016
43
Acute intermittent porphyria: A critical diagnosis for favorable outcome. (27555700)
2016
44
Severe porphyric neuropathy--importance of screening for porphyria in Guillain-BarrAc syndrome. (26792303)
2016
45
ANNALS EXPRESS: Best practice guidelines on first line laboratory testing for porphyria. (27555665)
2016
46
Takotsubo syndrome triggered by acute intermittent porphyria attack: An unusual stressor for catecholamine-induced cardiomyopathy. (26788817)
2016
47
A Comprehensive Rehabilitation Program and Follow-up Assessment for Acute Intermittent Porphyria. (27584135)
2016
48
Systemic inflammation in acute intermittent porphyria: a case-control study. (27859020)
2016
49
Safe use of perampanel in a carrier of variegate porphyria. (26837372)
2016
50
Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient. (27746433)
2016

Variations for Porphyria

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Expression for genes affiliated with Porphyria

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Search GEO for disease gene expression data for Porphyria.

Pathways for genes affiliated with Porphyria

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GO Terms for genes affiliated with Porphyria

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

idNameGO IDScoreTop Affiliating Genes
1basal part of cellGO:004517810.1HFE, TF
2HFE-transferrin receptor complexGO:199071210.1HFE, TF
3mitochondrial inner membraneGO:00057439.8ALAS2, CPOX, FECH, PPOX
4mitochondrionGO:00057398.3ALAS1, ALAS2, CPOX, FECH, PPOX, UROS

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1protoporphyrinogen IX metabolic processGO:004650110.5FECH, PPOX
2response to inorganic substanceGO:001003510.3ALAD, CPOX
3response to insecticideGO:001708510.3CPOX, FECH
4biosynthetic processGO:000905810.3ALAS1, ALAS2
5response to metal ionGO:001003810.3ALAD, FECH
6response to platinum ionGO:007054110.2ALAD, FECH
7response to arsenic-containing substanceGO:004668510.1ALAD, CPOX, FECH
8cellular response to iron ionGO:007128110.0HFE, TF
9iron ion homeostasisGO:005507210.0HFE, TF
10positive regulation of receptor-mediated endocytosisGO:004826010.0HFE, TF
11response to lead ionGO:00102889.9ALAD, CPOX, FECH
12erythrocyte differentiationGO:00302189.9ALAS2, GATA1
13response to methylmercuryGO:00515979.9ALAD, CPOX, FECH
14response to iron ionGO:00100399.8ALAD, CPOX, HFE
15porphyrin-containing compound metabolic processGO:00067789.7ALAS1, ALAS2, CYP1A2
16cellular iron ion homeostasisGO:00068799.6ALAS2, HFE, TF
17response to drugGO:00424939.6ALAD, CYP1A2, FECH, PPOX
18transferrin transportGO:00335729.3HFE, TF
19tetrapyrrole biosynthetic processGO:00330149.2ALAD, ALAS1, ALAS2, HMBS, UROS
20porphyrin-containing compound biosynthetic processGO:00067799.0ALAD, CPOX, FECH, HMBS, PPOX, UROD
21protoporphyrinogen IX biosynthetic processGO:00067828.5ALAD, ALAS1, ALAS2, CPOX, HMBS, PPOX
22heme biosynthetic processGO:00067838.1ALAD, ALAS1, ALAS2, CPOX, FECH, HMBS

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

idNameGO IDScoreTop Affiliating Genes
15-aminolevulinate synthase activityGO:000387010.2ALAS1, ALAS2
2ferrous iron bindingGO:000819810.1FECH, TF
3lyase activityGO:00168299.4ALAD, FECH, UROD, UROS
4transferrin receptor bindingGO:19904599.3HFE, TF

Sources for Porphyria

About this section
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