MCID: PRP029
MIFTS: 56

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 11 69 46 24 13 25 48 36
Hematoporphyria 11 24
Disorder of Porphyrin and Hem Metabolism 11
Disorders of Porphyrin Metabolism 66
 
Disorder of Porphyrin Metabolism 11
Porphyrin Disorder 24
Porphyrinopathy 11
Porphyrias 37

Classifications:



External Ids:

Disease Ontology11 DOID:13268
ICD1028 E80.20
ICD9CM30 277.1
MeSH37 D011164
NCIt43 C97096

Summaries for Porphyria

About this section
MedlinePlus:36 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 Iron metabolism in placenta and Porphyrin and chlorophyll metabolism. Affiliated tissues include skin, liver and bone marrow, and related mouse phenotypes are liver/biliary system and homeostasis/metabolism.

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:24 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:46 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:69 The porphyrias (/pɔːrˈfɪriə/, /pɔːrˈfɪəriə/ or /pɔːrˈfaɪriə/) are a group of rare... 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 219)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria variegata31.8ALAD, CPOX, FECH, HFE, HMBS, PPOX
2porphyria cutanea tarda29.8ALAD, CPOX, CYP1A2, HAMP, HFE, HMBS
3coproporphyria29.8ALAD, ALAS1, ALAS2, CPOX, FECH, HMBS
4porphyria, acute intermittent12.5
5porphyria, acute hepatic12.3
6porphyria, congenital erythropoietic12.3
7acute porphyria12.3
8cutaneous porphyria12.2
9congenital porphyria12.2
10porphyria cutanea tarda, type i12.2
11chester porphyria12.2
12familial porphyria cutanea tarda12.1
13aminolevulinate dehydratase deficiency porphyria12.0
14urod-related porphyrias11.9
15ala dehydratase deficiency10.8
16protoporphyria, erythropoietic, autosomal recessive10.7
17hepatitis10.7
18hepatitis c10.5
19hepatitis c virus10.4
20erythropoietic uroporphyria associated with myeloid malignancy10.3
21hemochromatosis10.3
22lupus erythematosus10.2
23dermatoosteolysis, kirghizian type10.2HFE, TF
24y chromosome infertility10.2ALAS2, FECH
25hepatocellular carcinoma10.1
26neuropathy10.1
27systemic lupus erythematosus10.1
28leukemia10.1
29encephalopathy10.1
30protoporphyria, erythropoietic, x-linked10.0
31epilepsy10.0
32slate pneumoconiosis10.0HFE, TF, UROD
33liver disease9.9
34viral hepatitis9.9
35harp syndrome9.9HFE, TF
36siderosis9.9
37hypertrichosis9.9
38discoid lupus erythematosus9.9
39hydrops fetalis, nonimmune9.9
40kcnq2-related disorders9.8HAMP, HFE
41breast cancer9.8
42cutaneous lupus erythematosus9.8
43respiratory failure9.8
44pericarditis9.8
45status epilepticus9.8
46pancreatitis9.8
47acquired immunodeficiency syndrome9.8
48subacute cutaneous lupus erythematosus9.8
49myelodysplastic syndrome9.8
50alopecia9.8

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 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:


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

Drugs & Therapeutics for Porphyria

About this section

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

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DeferasiroxPhase 3, Phase 287201530-41-85493381
Synonyms:
Deferasiroxum
Deferasiroxum [inn-latin]
 
Exjade
ICL 670
ICL 670a
deferasirox
2
ColestipolPhase 2, Phase 3526658-42-4, 50925-79-662816
Synonyms:
Colestipolum
 
Colestipolum [INN-Latin]
Copolymer of bis(2-aminoethyl)amine and 2-(chloromethyl)oxirane
Epichlorohydrin-tetraethylenepentamine polymer
3
IronPhase 3, Phase 210807439-89-623925
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
4alpha-MSHPhase 3, Phase 214
5cysteineNutraceuticalPhase 3166
6
HydroxychloroquinePhase 2141118-42-33652
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
7
Aminolevulinic acid150106-60-5137
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

Interventional clinical trials:

(show all 35)
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
10Panhematin for Prevention of Acute Attacks of Porphyria Panhematin for Prevention of Acute Attacks of PorphyriaRecruitingNCT02922413Phase 2
11Controlled Trial of Panhematin in Treatment of Acute Attacks of PorphyriaRecruitingNCT02180412Phase 2
12Hydroxychloroquine and Phlebotomy for Treating Porphyria Cutanea TardaRecruitingNCT01573754Phase 2
13Safety and Efficacy of Oral Deferasirox in Patients With Porphyria Cutanea TardaRecruitingNCT01284946Phase 2
14Heme Arginate in Cardiac Surgery PatientsNot yet recruitingNCT02142699Phase 2
15Phase I Gene Therapy Clinical Trial Using the Vector rAAV2/5-PBGD for the Treatment of Acute Intermittent PorphyriaCompletedNCT02082860Phase 1
16Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of PorphyriaCompletedNCT00004398Phase 1
17Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of PorphyriaCompletedNCT00004397Phase 1
18Hemin in Healthy SubjectsCompletedNCT00882804Phase 1
19A Phase 1 Study of ALN-AS1 in Patients With Acute Intermittent Porphyria (AIP)RecruitingNCT02452372Phase 1
20Observational Study of Acute Intermittent Porphyria PatientsCompletedNCT02076763
21Risk Factors of Porphyria Cutanea Tarda (PCT)CompletedNCT00213772
22Study of Nutritional Factors in PorphyriaCompletedNCT00004788
23Study of the Pathogenesis of Porphyria Cutanea TardaCompletedNCT00005103
24Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic AttacksCompletedNCT00004330
25Diagnostic and Screening Study of Genetic DisordersCompletedNCT00006057
26Study of Cysteine Hydrochloride for Erythropoietic ProtoporphyriaCompletedNCT00004831
27Clinical Diagnosis of Acute PorphyriaRecruitingNCT01568554
28Longitudinal Study of the PorphyriasRecruitingNCT01561157
29Studies in Porphyria I: Characterization of Enzyme DefectsRecruitingNCT00004331
30Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))RecruitingNCT01880983
31Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial ImpactRecruitingNCT01688895
32Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic ProtoporphyriaRecruitingNCT00206869
33EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)Active, not recruitingNCT02240784
34Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)Not yet recruitingNCT01617642
35Effect 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

Genetic tests related to Porphyria:

id Genetic test Affiliating Genes
1 Porphyria25

Anatomical Context for Porphyria

About this section

MalaCards organs/tissues related to Porphyria:

34
Skin, Liver, Bone marrow, Bone, Testes, Kidney, Brain

Animal Models for Porphyria or affiliated genes

About this section

MGI Mouse Phenotypes related to Porphyria:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9CYP1A2, FECH, HFE, UROD, UROS
2MP:00053766.7ALAS2, CYP1A2, FECH, HFE, HMBS, PPOX
3MP:00107685.9ALAS1, ALAS2, CYP1A2, FECH, HFE, HMBS

Publications for Porphyria

About this section

Articles related to Porphyria:

(show top 50)    (show all 2091)
idTitleAuthorsYear
1
Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria. (27627571)
2016
2
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. (26132003)
2015
3
Anthropometric and Quality-of-Life Parameters in Acute Intermittent Porphyria Patients. (26222840)
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
Porphyria cutanea tarda--when skin meets liver. (20955974)
2010
9
Thomas Wakley, King George III and acute porphyria. (19966121)
2009
10
Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. (19233912)
2009
11
Acute intermittent porphyria, Rasmussen encephalitis, or both? (17608316)
2007
12
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
13
Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. (17137171)
2006
14
Genetic studies in variegate porphyria in Spain. Identification of gene mutations and family study for carrier detection. (16922948)
2006
15
Nutritional assessment of patients affected by porphyria variegata. (16864990)
2006
16
Porphyria cutanea tarda masquerading as chronic hand eczema. (15206707)
2004
17
Refractory status epilepticus due to acute hepatic porphyria in a pregnant woman: induced abortion as the sole therapeutic option? (15469454)
2004
18
Uroporphyrin accumulation in hepatoma cells expressing human or mouse CYP1A2: relation to the role of CYP1A2 in human porphyria cutanea tarda. (12566081)
2003
19
Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. (11855561)
2002
20
A study of 24-hour ambulatory blood pressure monitoring in cases of intermittent acute porphyria with hypertension: special reference to safety and efficacy of angiotensin-converting enzyme inhibitor (enalapril) therapy. (12674196)
2002
21
Treatment of acute porphyria. (11480131)
2001
22
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. (10688809)
2000
23
Uroporphyrinogen decarboxylase gene mutations in Danish patients with porphyria cutanea tarda. (11202053)
2000
24
Three novel mutations in the protoporphyrinogen oxidase gene in Japanese patients with variegate porphyria. (11074242)
2000
25
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation. (10494093)
1999
26
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
27
Propofol and electroconvulsive therapy in a patient at risk from acute intermittent porphyria. (9602601)
1998
28
Type of impaired porphyrin metabolism caused by hepatitis C virus is not porphyria cutanea tarda but chronic hepatic porphyria. (9301601)
1997
29
R325X mutation in exon 15 of the hydroxymethylbilane synthase gene identified in two Danish families with acute intermittent porphyria. (8565205)
1996
30
Gabapentin treatment of seizures in acute intermittent porphyria. (7783893)
1995
31
Conjugal porphyria cutanea tarda. (7826090)
1995
32
Porphyria cutanea tarda and peptic ulcer. (8095002)
1993
33
Acute intermittent porphyria with atypical neuropathy. (2035100)
1991
34
Bile porphyrin analysis in the evaluation of variegate porphyria. (2020296)
1991
35
Fluoxetine treatment of depressive symptoms in acute intermittent porphyria. (2005080)
1991
36
Porphyria cutanea tarda and HIV infection. (2252569)
1990
37
Porphyria cutanea tarda and acquired immunodeficiency syndrome: case reports and literature review. (2256699)
1990
38
A classification of liver tumours occurring in chronic hepatic porphyria. (2839017)
1987
39
Protoporphyrinogen oxidase and porphobilinogen deaminase in variegate porphyria. (3015635)
1986
40
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
41
Porphyria variegata treated with cyproterone acetate and ethinyl estradiol. (6873421)
1983
42
Porphyria variegata. (6962639)
1982
43
Acute hepatic porphyria syndrome with porphobilinogen synthase defect. (7450139)
1980
44
Congenital erythropoietic porphyria--a relatively benign variant (2 cases). (7462130)
1980
45
Acute intermittent porphyria with the syndrome of inappropriate adh secretion (SIADH) (a report of two cases). (7228836)
1980
46
Acute intermittent porphyria associated with inappropriate antidiuretic hormone secretion, hypokalemic alkalosis, and secondary hyperaldosteronism. (472850)
1979
47
Family evaluations in acute intermittent porphyria using red cell uroporphyrinogen I synthetase. (458830)
1979
48
The treatment of cutaneous porphyria. (883916)
1977
49
Catecholamine uptake, accumulation, and release in acute porphyria. (908757)
1977
50
Pathogenesis of neural manifestations in acute porphyria. (870989)
1977

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

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

idNameGO IDScoreTop Affiliating Genes
1HFE-transferrin receptor complexGO:19907129.8HFE, TF
2basal part of cellGO:00451789.4HFE, TF
3mitochondrionGO:00057398.2ALAS1, ALAS2, CPOX, FECH, PPOX, UROS

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

(show all 33)
idNameGO IDScoreTop Affiliating Genes
1protoporphyrinogen IX metabolic processGO:004650110.6FECH, PPOX
2response to vitaminGO:003327310.6ALAD, HMBS
3cellular response to amine stimulusGO:007141810.5HMBS, UROS
4porphyrin-containing compound biosynthetic processGO:000677910.5PPOX, UROS
5response to platinum ionGO:007054110.5ALAD, FECH
6response to mercury ionGO:004668910.4ALAD, UROD
7response to cobalt ionGO:003202510.4ALAD, HMBS
8response to inorganic substanceGO:001003510.3ALAD, CPOX
9response to iron ion starvationGO:199064110.2HAMP, HFE
10cellular response to lead ionGO:007128410.2ALAD, HMBS
11response to metal ionGO:001003810.2ALAD, FECH
12cellular response to dexamethasone stimulusGO:007154910.2FECH, HMBS
13response to insecticideGO:001708510.2CPOX, FECH
14response to amino acidGO:004320010.1ALAD, HMBS
15multicellular organismal iron ion homeostasisGO:006058610.1HAMP, HFE
16liver regenerationGO:009742110.1HAMP, HFE
17cellular response to arsenic-containing substanceGO:007124310.0HMBS, UROD, UROS
18acute-phase responseGO:000695310.0HAMP, HFE
19response to arsenic-containing substanceGO:00466859.9ALAD, CPOX, FECH
20iron ion homeostasisGO:00550729.8HFE, TF
21cellular response to iron ionGO:00712819.8HFE, TF
22response to zinc ionGO:00100439.8ALAD, HAMP, HMBS
23positive regulation of receptor-mediated endocytosisGO:00482609.8HFE, TF
24response to lead ionGO:00102889.8ALAD, CPOX, FECH
25response to estradiolGO:00323559.5CYP1A2, HMBS, UROD
26response to hypoxiaGO:00016669.3ALAD, ALAS2, HMBS
27response to methylmercuryGO:00515979.3ALAD, CPOX, FECH, HMBS, UROD
28response to ethanolGO:00454719.0ALAD, FECH, HAMP, UROD
29cellular iron ion homeostasisGO:00068798.7ALAS2, HAMP, HFE, TF
30response to iron ionGO:00100398.6ALAD, CPOX, HAMP, HFE, UROD
31response to drugGO:00424938.4ALAD, CYP1A2, FECH, HMBS, PPOX
32protoporphyrinogen IX biosynthetic processGO:00067828.2ALAD, ALAS1, ALAS2, CPOX, HMBS, PPOX
33heme biosynthetic processGO:00067837.9ALAD, ALAS1, ALAS2, CPOX, FECH, HMBS

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

idNameGO IDScoreTop Affiliating Genes
1uroporphyrinogen-III synthase activityGO:000485210.1HMBS, UROS
25-aminolevulinate synthase activityGO:00038709.9ALAS1, ALAS2
3coenzyme bindingGO:00506629.8ALAS2, HMBS
4transferrin receptor bindingGO:19904599.1HFE, TF
5ferrous iron bindingGO:00081989.0FECH, TF, UROD

Sources for Porphyria

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet