MCID: PRP029
MIFTS: 54

Porphyria malady

Genetic diseases, Rare diseases, Metabolic diseases, Blood diseases, Liver diseases categories

Aliases & Classifications for Porphyria

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Aliases & Descriptions for Porphyria:

Name: Porphyria 10 68 45 23 47 12 35
Hematoporphyria 10 68 23
Porphyrin Disorder 68 23
Disorder of Porphyrin and Hem Metabolism 10
 
Disorders of Porphyrin Metabolism 65
Disorder of Porphyrin Metabolism 10
Porphyrinopathy 10
Porphyrias 36


Classifications:



Summaries for Porphyria

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MedlinePlus:35 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 porphyria variegata and porphyria, acute intermittent, and has symptoms including abnormality of urine homeostasis, abnormality of the heme biosynthetic pathway and hypertension. 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, and related mouse phenotypes are liver/biliary system and hematopoietic system.

Disease Ontology:10 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:23 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:45 The 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 multiple forms have different courses of treatment.most porphyrias are inherited conditions with either an autosomal dominant or autosomal recessive pattern of inheritance. porphyria can also be caused by environmental factors such as infections or exposures to certain prescription drugs. this type of porphyria is called sporadic or acquired porphyria. last updated: 5/26/2015

Wikipedia:68 The porphyrias are a group of rare diseases in which chemical substances called porphyrins accumulate.... more...

Related Diseases for Porphyria

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Diseases in the Porphyria family:

Acute Porphyria Congenital Porphyria
Urod-Related Porphyrias

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

(show top 50)    (show all 251)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria variegata30.4ALAD, CPOX, FECH, HFE, HMBS, PPOX
2porphyria, acute intermittent30.3ALAD, ALAS1, CPOX, FECH, HMBS, PPOX
3porphyria cutanea tarda30.3ALAD, CPOX, CYP1A2, FECH, HFE, HMBS
4porphyria, congenital erythropoietic30.3ALAD, CPOX, FECH, GATA1, HMBS, UROD
5protoporphyria, erythropoietic, x-linked29.5ALAD, ALAS1, ALAS2, FECH, HFE, UROS
6coproporphyria29.3ALAD, ALAS1, ALAS2, CPOX, FECH, GATA1
7acute porphyria11.1
8hepatitis11.0
9congenital porphyria10.8
10hepatitis c10.8
11cutaneous porphyria10.8
12hepatitis c virus10.7
13hemochromatosis10.7
14skin disease10.6
15lupus erythematosus10.6
16skin conditions10.5
17chester porphyria10.5
18liver disease10.5
19porphyria, acute hepatic10.5
20hepatocellular carcinoma10.5
21galactosemia10.5
22neuropathy10.4
23systemic lupus erythematosus10.4
24anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.4
25leukemia10.4
26encephalopathy10.4
27protoporphyria, erythropoietic, autosomal recessive10.3
28aminolevulinate dehydratase deficiency porphyria10.3
29viral hepatitis10.3
30porphyria due to ala dehydratase deficiency10.3
31ala deficiency porphyria10.3
32scleroderma10.3
33ala dehydratase deficiency10.3
34siderosis10.2
35hypertrichosis10.2
36iron metabolism disease10.2
37peripheral neuropathy10.2
38discoid lupus erythematosus10.2
39breast cancer10.2
40status epilepticus10.2
41cutaneous lupus erythematosus10.2
42acquired immunodeficiency syndrome10.2
43pancreatitis10.2
44pericarditis10.2
45respiratory failure10.2
46urod-related porphyrias10.2
47subacute cutaneous lupus erythematosus10.2
48y chromosome infertility10.1ALAS2, FECH
49myelodysplastic syndrome10.1
50alopecia10.1

Graphical network of the top 20 diseases related to Porphyria:



Diseases related to porphyria

Symptoms for Porphyria

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HPO human phenotypes related to Porphyria:

(show all 21)
id Description Frequency HPO Source Accession
1 abnormality of urine homeostasis hallmark (90%) HP:0003110
2 abnormality of the heme biosynthetic pathway hallmark (90%) HP:0010472
3 hypertension typical (50%) HP:0000822
4 pruritus typical (50%) HP:0000989
5 cutaneous photosensitivity typical (50%) HP:0000992
6 abnormality of skin pigmentation typical (50%) HP:0001000
7 diarrhea typical (50%) HP:0002014
8 nausea and vomiting typical (50%) HP:0002017
9 constipation typical (50%) HP:0002019
10 abdominal pain typical (50%) HP:0002027
11 anorexia typical (50%) HP:0002039
12 sleep disturbance typical (50%) HP:0002360
13 abnormal blistering of the skin typical (50%) HP:0008066
14 chest pain typical (50%) HP:0100749
15 hallucinations occasional (7.5%) HP:0000738
16 seizures occasional (7.5%) HP:0001250
17 muscle weakness occasional (7.5%) HP:0001324
18 flexion contracture occasional (7.5%) HP:0001371
19 paresthesia occasional (7.5%) HP:0003401
20 abnormality of temperature regulation occasional (7.5%) HP:0004370
21 cerebral palsy occasional (7.5%) HP:0100021

Drugs & Therapeutics for Porphyria

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

(show all 9)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ColestipolapprovedPhase 2, Phase 3550925-79-662816
Synonyms:
Colestid
Colestipol Hydrochloride
 
Colestipolum
Colestipolum [INN-Latin]
Copolymer of bis(2-aminoethyl)amine and 2-(chloromethyl)oxirane
Epichlorohydrin-tetraethylenepentamine polymer
2
IronapprovedPhase 3, Phase 29577439-89-623925
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
Dexiron
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
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feraheme
Feronate
Ferretts
Ferrlecit
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
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
Infufer
Iron
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Venofer
Vitedyn-Slo
Yieronia
fer
ferrous ascorbate
ferrous fumarate
ferrous gluconate
ferrous glycine sulfate
ferrous iron
ferrous succinate
ferrous sulfate
hierro
3
Deferasiroxapproved, investigationalPhase 3, Phase 283201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox
4alpha-MSHPhase 3, Phase 212581-05-5
5cysteineNutraceuticalPhase 3143
6
HydroxychloroquineapprovedPhase 2128118-42-33652
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
Hydroxychloroquine Sulfate (1:1) Salt
Hydroxychloroquine [INN:BAN]
Hydroxychloroquine sulfate
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
Plaquenil
Polirreumin
Polirreumin (TN)
Quensyl
SPBio_001116
ST072188
Spectrum2_001238
Spectrum5_001697
UNII-4QWG6N8QKH
WIN 1258
hydroxychloroquine
7Tin mesoporphyrinPhase 1, Phase 213
8
TinPhase 1, Phase 2317440-31-5
Synonyms:
CI Pigment metal 5
Haro Mix ZT-514
Innohep
Metallic tin
SN
 
Silver matt powder
Stanum
Tin flake
Tin powder
Tindamax
ZINN
9
Aminolevulinic acidapproved128106-60-5137
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-Aminolevulinate hydrochloride
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
Levulan Kerastick
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

Interventional clinical trials:

(show all 34)
idNameStatusNCT IDPhase
1Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea TardaCompletedNCT00599326Phase 3
2Sorbent Therapy of the Cutaneous PorphyriasCompletedNCT01422915Phase 2, Phase 3
3Phase III Study of L-Cysteine in Patients With Erythropoietic ProtoporphyriaCompletedNCT00004940Phase 3
4Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP)CompletedNCT00979745Phase 3
5Phase III Confirmatory Study in Erythropoietic ProtoporphyriaActive, not recruitingNCT01605136Phase 3
6Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute PorphyriaCompletedNCT00004789Phase 1, Phase 2
7Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute PorphyriasCompletedNCT00004396Phase 2
8Porphozym in the Treatment of Acute Attacks in AIPCompletedNCT00418795Phase 2
9Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP)CompletedNCT01097044Phase 2
10Controlled Trial of Panhematin in Treatment of Acute Attacks of PorphyriaRecruitingNCT02180412Phase 2
11Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea TardaRecruitingNCT01573754Phase 2
12Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea TardaRecruitingNCT01284946Phase 2
13Heme Arginate in Cardiac Surgery PatientsNot yet recruitingNCT02142699Phase 2
14Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent PorphyriaCompletedNCT02082860Phase 1
15Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of PorphyriaCompletedNCT00004398Phase 1
16Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of PorphyriaCompletedNCT00004397Phase 1
17Hemin in Healthy SubjectsCompletedNCT00882804Phase 1
18A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP)RecruitingNCT02452372Phase 1
19Observational Study of Acute Intermittent Porphyria PatientsCompletedNCT02076763
20Risk Factors of Porphyria Cutanea Tarda (PCT)CompletedNCT00213772
21Study of Nutritional Factors in PorphyriaCompletedNCT00004788
22Study of the Pathogenesis of Porphyria Cutanea TardaCompletedNCT00005103
23Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic AttacksCompletedNCT00004330
24Diagnostic and Screening Study of Genetic DisordersCompletedNCT00006057
25Study of Cysteine Hydrochloride for Erythropoietic ProtoporphyriaCompletedNCT00004831
26Clinical Diagnosis of Acute PorphyriaRecruitingNCT01568554
27Longitudinal Study of the PorphyriasRecruitingNCT01561157
28Studies in Porphyria I: Characterization of Enzyme DefectsRecruitingNCT00004331
29Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))RecruitingNCT01880983
30Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial ImpactRecruitingNCT01688895
31Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic ProtoporphyriaRecruitingNCT00206869
32EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)Active, not recruitingNCT02240784
33Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)Not yet recruitingNCT01617642
34Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic ProtoporphyriaWithdrawnNCT01550705

Search NIH Clinical Center for Porphyria


Cochrane evidence based reviews: Porphyrias

Genetic Tests for Porphyria

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Anatomical Context for Porphyria

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MalaCards organs/tissues related to Porphyria:

33
Skin, Liver, Bone, Bone marrow, Testes, Kidney, Breast

Animal Models for Porphyria or affiliated genes

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MGI Mouse Phenotypes related to Porphyria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053707.9CYP1A2, FECH, GATA1, HFE, UROD, UROS
2MP:00053977.0ALAS2, CYP1A2, FECH, GATA1, HFE, TF
3MP:00053766.2ALAS2, CYP1A2, FECH, GATA1, HFE, HMBS
4MP:00107685.9ALAS1, ALAS2, CYP1A2, FECH, GATA1, HFE

Publications for Porphyria

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Articles related to Porphyria:

(show top 50)    (show all 2027)
idTitleAuthorsYear
1
An update of clinical management of acute intermittent porphyria. (26366103)
2015
2
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. (26132003)
2015
3
Acute porphyria precipitated by efavirenz. (25909830)
2015
4
Porphyria cutanea tarda and Sjogren's syndrome. (25054769)
2014
5
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria. (24925316)
2014
6
Urinary metabolic fingerprint of acute intermittent porphyria analyzed by (1)H NMR spectroscopy. (24437734)
2014
7
Non-classical congenital adrenal hyperplasia in association with porphyria cutanea tarda: co-incidence or trigger? (22783026)
2012
8
An atypical case of Guillain-BarrAc syndrome: acute intermittent porphyria. (22273750)
2012
9
Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients. (20517178)
2010
10
Posterior reversible encephalopathy syndrome in a patient with acute intermittent porphyria. (20012311)
2010
11
Variegate porphyria induces plasma and neutrophil oxidative stress: effects of dietary supplementation with vitamins E and C. (19883519)
2010
12
Thomas Wakley, King George III and acute porphyria. (19966121)
2009
13
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. (19233912)
2009
14
Porphyria cutanea tarda as a complication of therapy for chronic hepatitis C. (18855993)
2008
15
Anticancer therapy in patients with porphyrias: evidence today. (18324878)
2008
16
Variations in porphobilinogen and 5-aminolevulinic acid concentrations in plasma and urine from asymptomatic carriers of the acute intermittent porphyria gene with increased porphyrin precursor excretion. (16497943)
2006
17
Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. (17137171)
2006
18
Porphyria cutanea tarda masquerading as chronic hand eczema. (15206707)
2004
19
Refractory status epilepticus due to acute hepatic porphyria in a pregnant woman: induced abortion as the sole therapeutic option? (15469454)
2004
20
International air travel: a risk factor for attacks in acute intermittent porphyria. (12927685)
2003
21
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. (11855561)
2002
22
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile. (11173967)
2001
23
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. (10688809)
2000
24
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation. (10494093)
1999
25
Correction of uroporphyrinogen decarboxylase deficiency (hepatoerythropoietic porphyria) in Epstein-Barr virus-transformed B-cell lines by retrovirus-mediated gene transfer: fluorescence-based selection of transduced cells. (10397714)
1999
26
The cutaneous porphyrias. (10604794)
1999
27
Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells. (9787090)
1998
28
Propofol and electroconvulsive therapy in a patient at risk from acute intermittent porphyria. (9602601)
1998
29
Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. (9620340)
1998
30
Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (GA1nther's disease). (9164637)
1997
31
Type of impaired porphyrin metabolism caused by hepatitis C virus is not porphyria cutanea tarda but chronic hepatic porphyria. (9301601)
1997
32
R325X mutation in exon 15 of the hydroxymethylbilane synthase gene identified in two Danish families with acute intermittent porphyria. (8565205)
1996
33
Hepatitis C and its association with lichen planus and porphyria cutanea tarda. (7868738)
1995
34
Folate deficiency and acute intermittent porphyria in a 12-year-old boy. (8327156)
1993
35
Porphyria cutanea tarda and peptic ulcer. (8095002)
1993
36
Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. (1549056)
1992
37
Porphyria cutanea tarda in a patient with AIDS. (1357562)
1992
38
Acute intermittent porphyria with atypical neuropathy. (2035100)
1991
39
Bile porphyrin analysis in the evaluation of variegate porphyria. (2020296)
1991
40
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. (2243121)
1990
41
Porphyria cutanea tarda and HIV infection. (2252569)
1990
42
A classification of liver tumours occurring in chronic hepatic porphyria. (2839017)
1987
43
Protoporphyrin accumulation by mitogen stimulated lymphocytes and protoporphyrinogen oxidase activity in patients with porphyria variegata and erythropoietic protoporphyria: evidence for deficiency of protoporphyrinogen oxidase and ferrochelatase in both diseases. (3924091)
1985
44
Porphyria variegata treated with cyproterone acetate and ethinyl estradiol. (6873421)
1983
45
Acute hepatic porphyria syndrome with porphobilinogen synthase defect. (7450139)
1980
46
Congenital erythropoietic porphyria--a relatively benign variant (2 cases). (7462130)
1980
47
Acute intermittent porphyria associated with inappropriate antidiuretic hormone secretion, hypokalemic alkalosis, and secondary hyperaldosteronism. (472850)
1979
48
The treatment of cutaneous porphyria. (883916)
1977
49
The neuropathology of acute porphyria. (13398893)
1956
50
SODIUM AND CHLORIDE DEPLETION IN ACUTE PORPHYRIA WITH REFERENCE TO THE STATUS OF ADRENAL CORTICAL FUNCTION. (16695727)
1949

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:004517810.0HFE, TF
2HFE-transferrin receptor complexGO:199071210.0HFE, TF
3mitochondrionGO:00057398.3ALAS1, ALAS2, CPOX, FECH, PPOX, UROS

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

(show all 35)
idNameGO IDScoreTop Affiliating Genes
1cellular response to lead ionGO:007128410.6ALAD, HMBS
2protoporphyrinogen IX metabolic processGO:004650110.6FECH, PPOX
3response to vitaminGO:003327310.5ALAD, HMBS
4cellular response to amine stimulusGO:007141810.5HMBS, UROS
5response to platinum ionGO:007054110.5ALAD, FECH
6response to cobalt ionGO:003202510.5ALAD, HMBS
7response to mercury ionGO:004668910.4ALAD, UROD
8response to zinc ionGO:001004310.4ALAD, HMBS
9response to amino acidGO:004320010.4ALAD, HMBS
10response to inorganic substanceGO:001003510.3ALAD, CPOX
11response to insecticideGO:001708510.3CPOX, FECH
12cellular response to arsenic-containing substanceGO:007124310.2HMBS, UROD, UROS
13biosynthetic processGO:000905810.1ALAS1, ALAS2
14cellular response to iron ionGO:007128110.0HFE, TF
15positive regulation of receptor-mediated endocytosisGO:004826010.0HFE, TF
16response to metal ionGO:001003810.0ALAD, FECH, HMBS
17response to arsenic-containing substanceGO:00466859.9ALAD, CPOX, FECH
18cellular response to dexamethasone stimulusGO:00715499.9FECH, HMBS
19iron ion homeostasisGO:00550729.7FECH, HFE, TF
20response to ethanolGO:00454719.6ALAD, FECH, UROD
21response to organic cyclic compoundGO:00140709.6ALAD, CYP1A2, HMBS, UROD
22response to hypoxiaGO:00016669.5ALAD, ALAS2, HMBS
23erythrocyte differentiationGO:00302189.5ALAS2, FECH, GATA1
24porphyrin-containing compound biosynthetic processGO:00067799.4CPOX, FECH, PPOX, UROD, UROS
25response to iron ionGO:00100399.4ALAD, CPOX, HFE, UROD
26response to methylmercuryGO:00515979.4ALAD, CPOX, FECH, HMBS, UROD
27tetrapyrrole biosynthetic processGO:00330149.4ALAD, ALAS1, ALAS2, HMBS, UROS
28response to lead ionGO:00102889.4ALAD, CPOX, FECH, HMBS
29cellular iron ion homeostasisGO:00068799.4ALAS2, HFE, TF
30response to estradiolGO:00323559.3CYP1A2, HMBS, UROD
31response to drugGO:00424938.5ALAD, CYP1A2, FECH, HMBS, PPOX
32protoporphyrinogen IX biosynthetic processGO:00067828.3ALAD, ALAS1, ALAS2, CPOX, HMBS, PPOX
33heme biosynthetic processGO:00067837.9ALAD, ALAS1, ALAS2, CPOX, FECH, HMBS
34porphyrin-containing compound metabolic processGO:00067787.3ALAD, ALAS1, ALAS2, CPOX, CYP1A2, FECH
35small molecule metabolic processGO:00442816.9ALAD, ALAS1, ALAS2, CPOX, CYP1A2, FECH

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

idNameGO IDScoreTop Affiliating Genes
1uroporphyrinogen-III synthase activityGO:000485210.3HMBS, UROS
25-aminolevulinate synthase activityGO:000387010.0ALAS1, ALAS2
3coenzyme bindingGO:00506629.7ALAS2, HMBS
4transferrin receptor bindingGO:19904599.4HFE, TF
5ferrous iron bindingGO:00081988.9FECH, TF, UROD

Sources for Porphyria

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet