MCID: PRP029
MIFTS: 60

Porphyria malady

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

Aliases & Classifications for Porphyria

About this section

Aliases & Descriptions for Porphyria:

Name: Porphyria 10 68 45 23 47 12 35
Hematoporphyria 10 68 23
Porphyrin Disorder 68 23
Porphyrias 36 24
 
Disorder of Porphyrin and Hem Metabolism 10
Disorders of Porphyrin Metabolism 65
Disorder of Porphyrin Metabolism 10
Porphyrinopathy 10

Classifications:



External Ids:

Disease Ontology10 DOID:13268
ICD1027 E80.20
ICD9CM29 277.1
MeSH36 D011164
NCIt42 C97096
UMLS65 C0032708

Summaries for Porphyria

About this section
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 cutanea tarda, 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 liver, skin and bone, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

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.

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

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).

Wikipedia:68 The porphyrias( poor-FEAR-e-uh) are a group of rare diseases in which chemical substances called... more...

Related Diseases for Porphyria

About this section

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 224)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria variegata31.8ALAD, CPOX, FECH, HFE, HMBS, PPOX
2porphyria cutanea tarda30.5ALAD, CPOX, CYP1A2, FECH, HFE, HMBS
3protoporphyria, erythropoietic, x-linked28.7ALAD, ALAS1, ALAS2, FECH, UROS
4coproporphyria28.7ALAD, ALAS1, ALAS2, CPOX, FECH, GATA1
5cutaneous porphyria27.2ALAD, ALAS1, ALAS2, CPOX, CYP1A2, FECH
6porphyria, acute intermittent12.5
7porphyria, congenital erythropoietic12.3
8acute porphyria12.3
9congenital porphyria12.2
10familial porphyria cutanea tarda12.2
11sporadic porphyria cutanea tarda12.2
12chester porphyria12.2
13porphyria, acute hepatic12.1
14porphyria due to ala dehydratase deficiency12.1
15aminolevulinate dehydratase deficiency porphyria12.0
16urod-related porphyrias11.9
17ala deficiency porphyria11.8
18ala dehydratase deficiency11.2
19protoporphyria, erythropoietic, autosomal recessive10.7
20hepatitis10.7
21ah amyloidosis10.5HFE, UROD
22hepatitis c10.5
23hepatitis c virus10.4
24erythropoietic uroporphyria associated with myeloid malignancy10.3
25hemochromatosis10.3
26baraitser brett piesowicz syndrome10.3HFE, TF
27xq28 duplication syndrome, int22h1/int22h2 mediated10.3ALAS2, FECH
28lupus erythematosus10.2
29insomnia, fatal familial10.2HFE, TF
30pulmonary alveolar proteinosis10.1HFE, TF
31hepatocellular carcinoma10.1
32neuropathy10.1
33myelophthisic anemia10.1HFE, TF
34systemic lupus erythematosus10.1
35tonsillar fossa cancer10.1HFE, TF
36leukemia10.1
37undetermined early-onset epileptic encephalopathy10.0CYP1A2, HFE, UROD
38pneumoconiosis due to talc10.0HFE, TF, UROD
39encephalopathy10.0
40marantic endocarditis10.0ALAS1, ALAS2
41liver disease9.9
42viral hepatitis9.9
43bronchial disease9.9HFE, TF
44gout susceptibility 49.9HFE, TF, UROD
45gastric small cell carcinoma9.9FECH, HFE, TF
46brill-zinsser disease9.9ALAS2, TF
47peripheral neuropathy9.9
48siderosis9.9
49hypertrichosis9.9
50discoid lupus erythematosus9.9

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 for Porphyria

About this section

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

UMLS symptoms related to Porphyria:


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

Drugs & Therapeutics for Porphyria

About this section

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

(show all 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
IronapprovedPhase 3, Phase 210217439-89-623925
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
2
Deferasiroxapproved, investigationalPhase 3, Phase 286201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox
3
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
4Hormone AntagonistsPhase 3, Phase 210002
5Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 29988
6alpha-MSHPhase 3, Phase 212581-05-5
7Chelating AgentsPhase 3, Phase 2667
8HormonesPhase 3, Phase 211748
9Iron Chelating AgentsPhase 3, Phase 2178
10AntimetabolitesPhase 2, Phase 39454
11Hypolipidemic AgentsPhase 2, Phase 32228
12cysteineNutraceuticalPhase 3150
13
HydroxychloroquineapprovedPhase 2136118-42-33652
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
14
TinPhase 1, Phase 2357440-31-5
Synonyms:
CI Pigment metal 5
Haro Mix ZT-514
Innohep
Metallic tin
SN
 
Silver matt powder
Stanum
Tin flake
Tin powder
Tindamax
ZINN
15Tin mesoporphyrinPhase 1, Phase 214
16Antirheumatic AgentsPhase 28496
17Antiprotozoal AgentsPhase 21730
18Anti-Infective AgentsPhase 217220
19Antiparasitic AgentsPhase 21854
20AntimalarialsPhase 21058
21Liver ExtractsPhase 13572
22
Aminolevulinic acidapproved142106-60-5137
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

About this section

Anatomical Context for Porphyria

About this section

MalaCards organs/tissues related to Porphyria:

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

Animal Models for Porphyria or affiliated genes

About this section

MGI Mouse Phenotypes related to Porphyria:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.0CYP1A2, FECH, GATA1, HFE, UROD, UROS
2MP:00053765.9ALAS2, CYP1A2, FECH, GATA1, HFE, HMBS
3MP:00107685.7ALAS1, ALAS2, CYP1A2, FECH, GATA1, HFE

Publications for Porphyria

About this section

Articles related to Porphyria:

(show top 50)    (show all 2076)
idTitleAuthorsYear
1
Anesthetic implication of tricuspid valve replacement in a patient with acute intermittent porphyria. (27052088)
2016
2
An update of clinical management of acute intermittent porphyria. (26366103)
2015
3
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. (26132003)
2015
4
Acute porphyria precipitated by efavirenz. (25909830)
2015
5
Porphyria cutanea tarda and Sjogren's syndrome. (25054769)
2014
6
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria. (24925316)
2014
7
Urinary metabolic fingerprint of acute intermittent porphyria analyzed by (1)H NMR spectroscopy. (24437734)
2014
8
Non-classical congenital adrenal hyperplasia in association with porphyria cutanea tarda: co-incidence or trigger? (22783026)
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
Porphyria cutanea tarda as a complication of therapy for chronic hepatitis C. (18855993)
2008
14
Anticancer therapy in patients with porphyrias: evidence today. (18324878)
2008
15
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
16
Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. (17137171)
2006
17
Porphyria cutanea tarda masquerading as chronic hand eczema. (15206707)
2004
18
Refractory status epilepticus due to acute hepatic porphyria in a pregnant woman: induced abortion as the sole therapeutic option? (15469454)
2004
19
International air travel: a risk factor for attacks in acute intermittent porphyria. (12927685)
2003
20
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. (11855561)
2002
21
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile. (11173967)
2001
22
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. (10688809)
2000
23
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation. (10494093)
1999
24
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
25
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
26
Propofol and electroconvulsive therapy in a patient at risk from acute intermittent porphyria. (9602601)
1998
27
Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. (9620340)
1998
28
Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (GA1nther's disease). (9164637)
1997
29
Type of impaired porphyrin metabolism caused by hepatitis C virus is not porphyria cutanea tarda but chronic hepatic porphyria. (9301601)
1997
30
R325X mutation in exon 15 of the hydroxymethylbilane synthase gene identified in two Danish families with acute intermittent porphyria. (8565205)
1996
31
Hepatitis C and its association with lichen planus and porphyria cutanea tarda. (7868738)
1995
32
Folate deficiency and acute intermittent porphyria in a 12-year-old boy. (8327156)
1993
33
Prognosis of acute porphyria: occurrence of acute attacks, precipitating factors, and associated diseases. (1549056)
1992
34
Porphyria cutanea tarda in a patient with AIDS. (1357562)
1992
35
Acute intermittent porphyria with atypical neuropathy. (2035100)
1991
36
Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. (2243121)
1990
37
Porphyria cutanea tarda and HIV infection. (2252569)
1990
38
A classification of liver tumours occurring in chronic hepatic porphyria. (2839017)
1987
39
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
40
Porphyria variegata treated with cyproterone acetate and ethinyl estradiol. (6873421)
1983
41
Acute hepatic porphyria syndrome with porphobilinogen synthase defect. (7450139)
1980
42
Acute intermittent porphyria associated with inappropriate antidiuretic hormone secretion, hypokalemic alkalosis, and secondary hyperaldosteronism. (472850)
1979
43
The neuropathology of acute porphyria. (13398893)
1956
44
SODIUM AND CHLORIDE DEPLETION IN ACUTE PORPHYRIA WITH REFERENCE TO THE STATUS OF ADRENAL CORTICAL FUNCTION. (16695727)
1949
45
46
47
48
49
50

Variations for Porphyria

About this section

Expression for genes affiliated with Porphyria

About this section
Search GEO for disease gene expression data for Porphyria.

Pathways for genes affiliated with Porphyria

About this section

GO Terms for genes affiliated with Porphyria

About this section

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1cellular response to lead ionGO:007128410.5ALAD, HMBS
2cellular response to amine stimulusGO:007141810.5HMBS, UROS
3response to cobalt ionGO:003202510.4ALAD, HMBS
4cellular response to arsenic-containing substanceGO:007124310.4UROD, UROS
5response to nutrient levelsGO:003166710.4ALAD, HMBS
6response to mercury ionGO:004668910.4ALAD, UROD
7response to metal ionGO:001003810.3ALAD, FECH
8tetrapyrrole biosynthetic processGO:003301410.2ALAD, HMBS, UROS
9response to zinc ionGO:001004310.2ALAD, HMBS
10response to methylmercuryGO:005159710.1ALAD, HMBS, UROD
11response to lead ionGO:001028810.0ALAD, FECH, HMBS
12cellular response to dexamethasone stimulusGO:00715499.9FECH, HMBS
13response to iron ionGO:00100399.8ALAD, CPOX, HFE
14cellular iron ion homeostasisGO:00068799.7ALAS2, TF
15iron ion homeostasisGO:00550729.7HFE, TF
16response to ethanolGO:00454719.7ALAD, FECH, UROD
17protoporphyrinogen IX biosynthetic processGO:00067829.6ALAD, ALAS2, CPOX, HMBS
18response to organic cyclic compoundGO:00140709.6ALAD, HMBS, UROD
19response to estradiolGO:00323559.3CYP1A2, HMBS, UROD
20heme biosynthetic processGO:00067839.2ALAD, CPOX, FECH, PPOX, UROS
21response to drugGO:00424939.2ALAD, CYP1A2, HMBS, PPOX
22porphyrin-containing compound metabolic processGO:00067786.6ALAD, ALAS1, ALAS2, CPOX, CYP1A2, FECH

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

idNameGO IDScoreTop Affiliating Genes
15-aminolevulinate synthase activityGO:00038709.7ALAS1, ALAS2
2pyridoxal phosphate bindingGO:00301709.5ALAS1, ALAS2

Sources for Porphyria

About this section
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