Porphyria disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MedlinePlus Genetics: ⁴² 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).Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda.Other types of porphyria, called acute porphyrias, primarily affect the nervous system. These disorders are described as "acute" because their signs and symptoms appear quickly and usually last a short time. Episodes of acute porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. During an episode, a person may also experience muscle weakness, seizures, fever, and mental changes such as anxiety and hallucinations. These signs and symptoms can be life-threatening, especially if the muscles that control breathing become paralyzed. Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, can have both acute and cutaneous symptoms.The porphyrias can also be split into erythropoietic and hepatic types, depending on where damaging compounds called porphyrins and porphyrin precursors first build up in the body. In erythropoietic porphyrias, these compounds originate in the bone marrow. Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria. Health problems associated with erythropoietic porphyrias include a low number of red blood cells (anemia) and enlargement of the spleen (splenomegaly). The other types of porphyrias are considered hepatic porphyrias. In these disorders, porphyrins and porphyrin precursors originate primarily in the liver, leading to abnormal liver function and an increased risk of developing liver cancer.Environmental factors can strongly influence the occurrence and severity of signs and symptoms of porphyria. Alcohol, smoking, certain drugs, hormones, other illnesses, stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of some forms of the disorder. Additionally, exposure to sunlight worsens the skin damage in people with cutaneous porphyrias.

MalaCards based summary: Porphyria, also known as hematoporphyria, is related to porphyria cutanea tarda, type i and familial porphyria cutanea tarda, and has symptoms including abdominal pain, constipation and diarrhea. An important gene associated with Porphyria is HMBS (Hydroxymethylbilane Synthase), and among its related pathways/superpathways are Metabolism and Insulin receptor recycling. The drugs Deferasirox and Colestipol have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and liver, and related phenotypes are abnormal urinary color and abnormal circulating porphyrin concentration

MedlinePlus: ⁴¹ 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

GARD: ¹⁹ 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. 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.

Orphanet: ⁵⁸ Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both.

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.

Wikipedia: ⁷⁵ Porphyria is a group of liver disorders in which substances called porphyrins build up in the body,... more...

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Related Diseases for Porphyria

Diseases in the Porphyria family:

Acute Porphyria

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

(show top 50) (show all 743)

#	Related Disease	Score	Top Affiliating Genes
1	porphyria cutanea tarda, type i	33.0	UROD HFE
2	familial porphyria cutanea tarda	33.0	UROD HFE
3	porphyria, congenital erythropoietic	32.7	UROS UROD HMBS GATA1 FECH CPOX
4	porphyria, acute intermittent	32.2	UROS UROD PPOX HPX HMOX1 HMBS
5	variegate porphyria	32.2	UROS UROD PPOX HMBS HFE FECH
6	coproporphyria, hereditary	32.0	UROS UROD PPOX HMBS HFE FECH
7	photoparoxysmal response 1	31.5	UROD PPOX FECH
8	porphyria cutanea tarda	31.3	UROS UROD TFRC TFR2 SLC40A1 PPOX
9	cutaneous porphyria	31.3	UROS UROD PPOX HMBS HFE HAMP
10	acute porphyria	31.3	UROS UROD PPOX HPX HMOX1 HMBS
11	rare hereditary hemochromatosis	31.2	TFR2 SLC40A1 HFE HAMP
12	protoporphyria, erythropoietic, 1	31.2	UROS UROD PPOX HMOX1 HMBS FECH
13	hypertrichosis	31.2	UROS UROD PPOX HFE
14	anemia, sideroblastic, 1	30.8	UROS TFRC TFR2 SLC40A1 HFE HAMP
15	hemochromatosis, type 1	30.5	UROD TFRC TFR2 SLC40A1 HMOX1 HFE
16	siderosis	30.5	UROD TFRC SLC40A1 HMOX1 HFE HAMP
17	x-linked protoporphyria	30.5	FECH ALAS2
18	iron metabolism disease	30.4	TFRC TFR2 SLC40A1 HFE HAMP
19	polycythemia	30.3	TFRC HAMP GATA1
20	cicatricial ectropion	30.3	UROS UROD
21	beta-thalassemia	30.3	TFRC TFR2 HFE HAMP GATA1
22	hemosiderosis	30.2	TFRC TFR2 SLC40A1 HFE HAMP
23	thalassemia	30.2	TFRC TFR2 SLC40A1 HFE HAMP GATA1
24	hemolytic anemia	30.2	UROS TFRC HPX HMOX1 HFE HAMP
25	scleromalacia perforans	30.2	UROD CPOX
26	deficiency anemia	30.0	TFRC TFR2 SLC40A1 HMOX1 HFE HAMP
27	thalassemia minor	29.9	HAMP GATA1
28	gilbert syndrome	29.9	HMOX1 HFE CYP1A2
29	aplastic anemia	29.9	TFRC GATA1 FECH ALAS2
30	hypochromic microcytic anemia	29.8	TFRC SLC40A1 HAMP ALAS2
31	acute erythroid leukemia	29.6	TFRC GATA1 FECH ALAS2
32	iron deficiency anemia	29.6	TFRC TFR2 SLC40A1 HFE HAMP FECH
33	plasmodium vivax malaria	29.6	TFRC GATA1
34	erythroleukemia	29.5	TFRC GATA1 FECH CPOX ALAS2
35	sickle cell anemia	29.5	TFRC HPX HMOX1 HAMP GATA1
36	hemochromatosis, type 3	29.5	TFRC TFR2 SLC40A1 HFE HAMP
37	microcytic anemia	29.5	TFRC TFR2 SLC40A1 HFE HAMP FECH
38	sideroblastic anemia	29.4	UROD TFRC TFR2 SLC40A1 HFE HAMP
39	restless legs syndrome	29.2	TFRC HMOX1 HAMP
40	aceruloplasminemia	29.1	TFRC TFR2 SLC40A1 HPX HFE HAMP
41	beta-thalassemia major	29.1	TFRC TFR2 SLC40A1 HPX HFE HAMP
42	porphyria, acute hepatic	11.8
43	chester porphyria	11.5
44	chronic hepatic porphyria	11.4
45	aminolevulinic acid dehydratase deficiency porphyria	11.3
46	dyserythropoietic anemia and thrombocytopenia	11.1
47	aminolevulinate dehydratase deficiency porphyria	11.1
48	erythropoietic uroporphyria associated with myeloid malignancy	11.1
49	protoporphyria, erythropoietic, 2	11.0
50	protoporphyria, erythropoietic, x-linked	11.0

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

Hypertension, Essential

Graphical network of the top 20 diseases related to Porphyria:

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Symptoms & Phenotypes for Porphyria

Human phenotypes related to Porphyria:

⁵⁸ ³⁰ (show all 24)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	abnormal urinary color ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0012086
2	abnormal circulating porphyrin concentration ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0010472
3	nausea and vomiting ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002017
4	sleep disturbance ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002360
5	constipation ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002019
6	hypertension ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000822
7	fatigue ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0012378
8	abdominal pain ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002027
9	anorexia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002039
10	chest pain ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0100749
11	cutaneous photosensitivity ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000992
12	abnormality of skin pigmentation ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001000
13	pruritus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000989
14	abnormal blistering of the skin ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0008066
15	diarrhea ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002014
16	muscle weakness ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001324
17	hallucinations ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000738
18	fever ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001945
19	paresthesia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003401
20	cerebral palsy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0100021
21	dupuytren contracture ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0005679
22	seizure ³⁰	Occasional (7.5%)		HP:0001250
23	seizures ⁵⁸		Occasional (29-5%)
24	behavioral abnormality ⁵⁸		Occasional (29-5%)

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:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.17	ABCB6 ALAD ALAS1 ALAS2 CLPX CPOX
2	no effect	GR00402-S-2	10.17	ABCB6 ALAS1 ALAS2 CPOX FECH GATA1
3	Reduced mammosphere formation	GR00396-S	9.5	ALAD GATA1 HFE PPOX TFR2 TFRC

MGI Mouse Phenotypes related to Porphyria:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.32	ABCB6 ALAD ALAS2 CPOX CYP1A2 FECH
2	liver/biliary system	MP:0005370	10.22	CYP1A2 FECH GATA1 HAMP HFE HMBS
3	growth/size/body region	MP:0005378	10.2	ALAD ALAS1 CLPX CPOX FECH GATA1
4	embryo	MP:0005380	9.96	ALAS1 ALAS2 CLPX CPOX FECH GATA1
5	immune system	MP:0005387	9.93	ALAD CPOX FECH GATA1 HAMP HFE
6	hematopoietic system	MP:0005397	9.83	ABCB6 ALAD ALAS2 CPOX FECH GATA1
7	mortality/aging	MP:0010768	9.6	ABCB6 ALAD ALAS1 ALAS2 CLPX CPOX

Sources

Drugs & Therapeutics for Porphyria

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

(show all 40)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Deferasirox

Approved, Investigational

Phase 3

201530-41-8

214348 5493381

2

Colestipol

Approved

Phase 2, Phase 3

26658-42-4

62816

3

Chelating Agents

Phase 3

4

Iron Chelating Agents

Phase 3

5

Lipid Regulating Agents

Phase 2, Phase 3

6

Antimetabolites

Phase 2, Phase 3

7

Hypolipidemic Agents

Phase 2, Phase 3

8

Sofosbuvir

Approved

Phase 2

1190307-88-0

45375808

9

Ledipasvir

Approved

Phase 2

1256388-51-8

67505836

10

Hydroxychloroquine

Approved

Phase 2

118-42-3

3652

11

Ledipasvir, sofosbuvir drug combination

Phase 2

12

Antiviral Agents

Phase 2

13

Tin mesoporphyrin

Phase 1, Phase 2

14

Antirheumatic Agents

Phase 2

15

Anti-Infective Agents

Phase 2

16

Antimalarials

Phase 2

17

Antiprotozoal Agents

Phase 2

18

Antiparasitic Agents

Phase 2

19

Caffeine

Approved

Phase 1

58-08-2

2519

20

Losartan

Approved

Phase 1

114798-26-4

3961

21

Midazolam

Approved, Illicit

Phase 1

59467-70-8

4192

22

Dextromethorphan

Approved

Phase 1

125-71-3

5362449 5360696

23

Esomeprazole

Approved, Investigational, Vet_approved

Phase 1

73590-58-6, 119141-88-7

9568614 4594

24

Chlorpromazine

Approved, Investigational, Vet_approved

Phase 1

69-09-0, 50-53-3

2726

25

Dopamine

Approved

Phase 1

62-31-7, 51-61-6

681

26

Liver Extracts

Phase 1

27

Gastrointestinal Agents

Phase 1

28

Antiemetics

Phase 1

29

Psychotropic Drugs

Phase 1

30

Antipsychotic Agents

Phase 1

31

Dopamine Antagonists

Phase 1

32

Dopamine Agents

Phase 1

33

Neurotransmitter Agents

Phase 1

34

Iron

Approved

7439-89-6

29936

35

Aminolevulinic acid

Approved

106-60-5

137

36

Hormones

37

Hormone Antagonists

38

Adrenergic Agents

39

Dermatologic Agents

40

Photosensitizing Agents

Interventional clinical trials:

(show all 39)

#	Name	Status	NCT ID	Phase	Drugs
1	ENVISION: A Phase 3 Randomized, Double-blind, Placebo-Controlled Multicenter Study With an Open-label Extension to Evaluate the Efficacy and Safety of Givosiran in Patients With Acute Hepatic Porphyrias	Completed	NCT03338816	Phase 3	Givosiran;Placebo
2	Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda	Completed	NCT00599326	Phase 3	Deferasirox
3	A Multi-centre, Double-blind, Randomized, Placebo-controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Porphozym (Recombinant Human Porphobilinogen Deaminase) in the Treatment of Acute Attacks in AIP	Completed	NCT00418795	Phase 2, Phase 3	recombinant human porphobilinogen deaminase (Porphozym)
4	Sorbent Therapy of the Cutaneous Porphyrias	Completed	NCT01422915	Phase 2, Phase 3	Colestipol
5	A Phase II, Open Label Clinical Trial Exploring the Safety and the Efficacy of Oral Deferasirox in Patients Newly Diagnosed With Porphyria Cutanea Tarda (PCT) and Non-transfusion Iron Overload	Unknown status	NCT01284946	Phase 2	Exjade
6	A Multicenter, Open-label Extension Study to Evaluate the Long-term Safety and Clinical Activity of Subcutaneously Administered ALN-AS1 in Patients With Acute Intermittent Porphyria Who Have Completed a Previous Clinical Study With ALN-AS1	Completed	NCT02949830	Phase 1, Phase 2	givosiran (ALN-AS1)
7	Newer Direct-Acting Anti-Viral Agents as Sole Therapy of Porphyria Cutanea Tarda in Subjects With Chronic Hepatitis C	Completed	NCT03118674	Phase 2	Harvoni
8	Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria	Completed	NCT00004789	Phase 1, Phase 2	heme arginate;tin mesoporphyrin
9	Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias	Completed	NCT00004396	Phase 2	heme arginate;tin mesoporphyrin
10	Safety and Efficacy of Panhematin™ for Prevention of Acute Attacks of Porphyria	Recruiting	NCT02922413	Phase 2
11	A Prospective Comparison of Low Dose Hydroxychloroquine and Phlebotomy in the Treatment of Porphyria Cutanea Tarda. IRB 02-435	Active, not recruiting	NCT01573754	Phase 2	Hydroxychloroquine
12	A Double-blind, Randomized, Placebo-controlled, Parallel Group Trial on the Efficacy and Safety of PanhematinTM in the Treatment of Acute Attacks of Porphyria	Active, not recruiting	NCT02180412	Phase 2
13	A Drug-Drug Interaction Study to Investigate the Effect of Givosiran on the Pharmacokinetics (PK) of Midazolam, Caffeine, Losartan, Omeprazole, and Dextromethorphan in Patients With Acute Intermittent Porphyria (AIP) Who Are Asymptomatic High Excreters (ASHE)	Completed	NCT03505853	Phase 1	Givosiran;5-probe cocktail
14	Phase I, Multicentre, Open Label, Single Dose, Dose-ranging Clinical Trial to Investigate the Safety and Tolerability of a Gene Therapy rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria	Completed	NCT02082860	Phase 1
15	A Phase 1, Single-ascending Dose, Multiple-ascending Dose, and Multi-dose Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of Subcutaneously Administered ALN AS1 in Patients With Acute Intermittent Porphyria (AIP)	Completed	NCT02452372	Phase 1	givosiran (ALN-AS1);Sterile Normal Saline (0.9% NaCl)
16	Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of Porphyria	Completed	NCT00004398	Phase 1	heme arginate;tin mesoporphyrin
17	Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of Porphyria	Completed	NCT00004397	Phase 1	heme arginate;tin mesoporphyrin
18	A Single Center, Single Dose, Open-Label, Two-Period Replicate Pilot Study to Investigate Intra-subject Variability in the Bioavailability of a Formulation Containing Chlorpromazine Hydrochloride (25 mg Sugar Coated Tablets) in at Least 16 Healthy Males and Females Under Fasting Conditions	Completed	NCT02943213	Phase 1	Chlorpromazine Hydrochloride
19	Studies in Porphyria I: Characterization of Enzyme Defects	Unknown status	NCT00004331
20	Clinical Diagnosis of Acute Porphyria	Completed	NCT01568554
21	"Factors Associated With Porphyria Cutanea Tarda in Patients Infected With Hepatitis C Virus"	Completed	NCT00213772
22	Observational Study of Acute Intermittent Porphyria Patients	Completed	NCT02076763
23	Study of the Pathogenesis of Porphyria Cutanea Tarda	Completed	NCT00005103
24	Study of Nutritional Factors in Porphyria	Completed	NCT00004788
25	Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks	Completed	NCT00004330		luteinizing hormone-releasing factor
26	A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks	Completed	NCT02240784
27	Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria	Completed	NCT03906214
28	7202 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)	Completed	NCT01880983
29	Diagnostic and Screening Study of Genetic Disorders	Completed	NCT00006057
30	Longitudinal Study of the Porphyrias	Recruiting	NCT01561157
31	ELEVATE, a Global Observational Longitudinal Prospective Registry of Patients With Acute Hepatic Porphyria (AHP)	Recruiting	NCT04883905
32	Estimating the Frequency and Neuro-Hormonal Characteristics of Acute Hepatic Porphyria in Postural Tachycardia Syndrome	Recruiting	NCT05344599
33	Acute Porphyrias: Biomarkers for Disease Activity and Response to Treatment	Active, not recruiting	NCT02935400		Hemin
34	Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)	Active, not recruiting	NCT01617642
35	Colombia National Porphyria Registry	Active, not recruiting	NCT05496933
36	Identification of Acute Intermittent Porphyria Modifying Genes	Not yet recruiting	NCT05502133
37	Prevalence of Acute Hepatic Porphyria in Population With Suggestive Clinical Picture	Not yet recruiting	NCT04923516
38	Expanded Access Protocol of Givosiran for Patients With Acute Hepatic Porphyria (AHP)	No longer available	NCT04056481		Givosiran
39	INSIGHT-AHP: A Study to Characterize the Prevalence of Acute Hepatic Porphyria (AHP) in Patients With Clinical Presentation and History Consistent With AHP	Terminated	NCT03547297

Search NIH Clinical Center for Porphyria

Cochrane evidence based reviews: porphyrias

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Genetic Tests for Porphyria

Genetic tests related to Porphyria:

#	Genetic test	Affiliating Genes
1	Porphyria ²⁸

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Anatomical Context for Porphyria

Organs/tissues related to Porphyria:

MalaCards : Skin, Bone Marrow, Liver, Bone, Spleen, Kidney, Heart

Sources

Publications for Porphyria

Articles related to Porphyria:

(show top 50) (show all 8082)

#	Title	Authors	PMID	Year
1	Patient Perspective on Acute Hepatic Porphyria with Sporadic Attacks: A Chronic Disease with Substantial Health-Related Quality of Life Impacts. ⁶² ⁴¹	Wheeden K...Lombardelli S	35907153	2022
2	New Avenues of Heme Synthesis Regulation. ⁶² ⁴¹	Medlock AE...Dailey HA	35806474	2022
3	Challenges in diagnosis and management of acute hepatic porphyrias: from an uncommon pediatric onset to innovative treatments and perspectives. ⁶² ⁴¹	Marcacci M...Ventura P	35392955	2022
4	Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. ⁵³ ⁶²	Cantatore-Francis JL...Schaffer JV	20479301	2010
5	Associations among behavior-related susceptibility factors in porphyria cutanea tarda. ⁵³ ⁶²	Jalil S...Anderson KE	19948245	2010
6	Molecular epidemiology of erythropoietic protoporphyria in the U.K. ⁵³ ⁶²	Whatley SD...Badminton MN	20105171	2010
7	Allosteric inhibition of human porphobilinogen synthase. ⁵³ ⁶²	Lawrence SH...Jaffe EK	19812033	2009
8	Understanding the mechanism of drug resistance due to a codon deletion in protoporphyrinogen oxidase through computational modeling. ⁵³ ⁶²	Hao GF...Zhan CG	19284797	2009
9	Co-synthesis of Human delta-Aminolevulinate Dehydratase (ALAD) Mutants with the Wild-type Enzyme in Cell-free System-Critical Importance of Conformation on Enzyme Activity-. ⁵³ ⁶²	Inoue R...Akagi R	19015748	2008
10	Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria. ⁵³ ⁶²	Schneider-Yin X...Schoenfeld N	18406650	2008
11	[Successful gene therapy of mice with congenital erythropoietic porphyria]. ⁵³ ⁶²	de Verneuil H...Moreau-Gaudry F	18601879	2008
12	Essential role of the AH receptor in the dysfunction of heme metabolism induced by 2,3,7,8-tetrachlorodibenzo-p-dioxin. ⁵³ ⁶²	Davies R...Smith AG	18163543	2008
13	Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. ⁵³ ⁶²	Whatley SD...Badminton MN	17597821	2007
14	Heme regulates exocrine peptidase precursor genes in zebrafish. ⁵³ ⁶²	Wang H...Valdez C	17895525	2007
15	Paraneoplastic porphyria cutanea tarda associated with cholangiocarcinoma: case report. ⁵³ ⁶²	Sokmen M...Yilmaz B	17891697	2007
16	A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. ⁵³ ⁶²	Phillips JD...Kushner JP	17360334	2007
17	Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. ⁵³ ⁶²	Phillips JD...Kushner JP	17148589	2007
18	ALAD porphyria is a conformational disease. ⁵³ ⁶²	Jaffe EK...Stith L	17236137	2007
19	Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18. ⁵³ ⁶²	Sarkany RP...Willis F	16882191	2006
20	Swiss patients with variegate porphyria have unique mutations. ⁵³ ⁶²	Schneider-Yin X...Minder EI	16947091	2006
21	Biosynthesis of heme in mammals. ⁵³ ⁶²	Ajioka RS...Kushner JP	16839620	2006
22	Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. ⁵³ ⁶²	Akagi R...Sassa S	16398658	2006
23	Dual porphyria with mutations in both the UROD and HMBS genes. ⁵³ ⁶²	Harraway JR...George PM	16390615	2006
24	Porphyria syndrome associated with diabetic nephrosclerosis and erythropoietin. ⁵³ ⁶²	Hedger RW...French AV	17435269	2006
25	Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria. ⁵³ ⁶²	de Villiers JN...Warnich L	15660919	2005
26	Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. ⁵³ ⁶²	Armstrong DK...Elder GH	15491440	2004
27	Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. ⁵³ ⁶²	Gouya L...Deybach JC	14669009	2004
28	The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. ⁵³ ⁶²	Doss MO...Sassa S	15303011	2004
29	[Treatment of acute porphyrias. The importance of follow-up of patients and carriers]. ⁵³ ⁶²	Tasnadi G...Pusztai A	12809070	2003
30	Molecular characterization of porphyrias in Italy: a diagnostic flow-chart. ⁵³ ⁶²	Martinez di Montemuros F...Cappellini MD	12699245	2002
31	Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic dialysis. ⁵³ ⁶²	Canavese C...Priolo G	12508966	2002
32	Non-ahr gene susceptibility Loci for porphyria and liver injury induced by the interaction of 'dioxin' with iron overload in mice. ⁵³ ⁶²	Robinson SW...Smith AG	11854449	2002
33	Late-onset porphyrias: what are they? ⁵³ ⁶²	Sassa S...Furuyama K	11929054	2002
34	Highly heterogeneous nature of delta-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria. ⁵³ ⁶²	Maruno M...Sassa S	11342419	2001
35	A mouse model of familial porphyria cutanea tarda. ⁵³ ⁶²	Phillips JD...Kushner JP	11134514	2001
36	Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria. ⁵³ ⁶²	Akagi R...Sassa S	11071662	2000
37	Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria. ⁵³ ⁶²	Mendez M...Parera V	10980536	2000
38	Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria. ⁵³ ⁶²	Akagi R...Sassa S	10706561	2000
39	Molecular aspects of the inherited porphyrias. ⁵³ ⁶²	Sassa S...Kappas A	10692079	2000
40	The cutaneous porphyrias. ⁵³ ⁶²	Lim HW...Cohen JL	10604794	1999
41	Formation of N-alkylprotoporphyrin IX after interaction of porphyrinogenic xenobiotics with rat liver microsomes. ⁵³ ⁶²	Wong SG...Marks GS	10964007	1999
42	Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. ⁵³ ⁶²	de Villiers JN...Kotze MJ	10401000	1999
43	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. ⁵³ ⁶²	Fontanellas A...de Verneuil H	10397714	1999
44	Investigations on the formation of urinary coproporphyrin isomers I-IV in 5-aminolevulinic acid dehydratase deficiency porphyria, acute lead intoxication and after oral 5-aminolevulinic acid loading. ⁵³ ⁶²	Jacob K...Doss MO	10211628	1999
45	Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT. ⁵³ ⁶²	Christiansen L...Petersen NE	10477430	1999
46	Chromosomal linkage analysis of porphyria in mice induced by hexachlorobenzene-iron synergism: a model of sporadic porphyria cutanea tarda. ⁵³ ⁶²	Akhtar RA...Smith AG	9918132	1998
47	5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up. ⁵³ ⁶²	Gross U...Doss MO	9732973	1998
48	Crystal structure of human uroporphyrinogen decarboxylase. ⁵³ ⁶²	Whitby FG...Hill CP	9564029	1998
49	Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda. ⁵³ ⁶²	Camagna A...de Martinis C	9427577	1998
50	ALAD porphyria. ⁵³ ⁶²	Sassa S	9516683	1998

Sources

Genes for Porphyria

Genes/enhancers related to Porphyria (0 elite genes):

(show all 31)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HMBS	Hydroxymethylbilane Synthase	Protein Coding	61.43	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	16390615 18406650 14669009 (more) 8340112 1588264 12699245
1	HMBS::GH11J119084	TSS distance: +0.4kb Elite enhancer with elite association with HMBS			Curated enhancer-disease association ²³ ¹³	25910213
2	PPOX	Protoporphyrinogen Oxidase	Protein Coding	59.15	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	16947091 14669009 19284797 (more) 8340112 15660919 12699245
3	UROD	Uroporphyrinogen Decarboxylase	Protein Coding	50.81	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	1634232 8644733 10397714 (more) 20479301 15491440 8176248 1905636 7902313 8661721 17895525 9777036 1363904 8896428 17891697 12699245 10980536 7706766 19948245 18601879 17360334 2063868 9564029 16390615 16839620 9427577 10477430 11134514 2322500 8745689
4	UROS	Uroporphyrinogen III Synthase	Protein Coding	48.42	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
4	UROS::GH10J125816	TSS distance: +6.0kb Elite enhancer with elite association with UROS			Curated enhancer-disease association ²³ ¹³	25910213
5	ALAD	Aminolevulinate Dehydratase	Protein Coding	46.73	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	17236137 9516683 10211628 (more) 15303011 11071662 1569184 2063868 7490911 11342419 8292661 8845420 19015748 12809070 10706561 9645025 17435269 1309003 7616655 19812033 10604794 9732973 11929054 16398658
6	FECH	Ferrochelatase	Protein Coding	37.68	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	16882191 20105171 17597821 (more) 12699245
7	CPOX	Coproporphyrinogen Oxidase	Protein Coding	35.37	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	16398658 7592568 14669009
8	ALAS2	5'-Aminolevulinate Synthase 2	Protein Coding	34.06	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	20105171
9	HFE	Homeostatic Iron Regulator	Protein Coding	33.65	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	10401000 12508966
10	ALAS1	5'-Aminolevulinate Synthase 1	Protein Coding	26.54	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10692079 2095458
11	ABCB6	ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)	Protein Coding	21.61	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
12	GATA1	GATA Binding Protein 1	Protein Coding	17.75	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17148589
13	HAMP	Hepcidin Antimicrobial Peptide	Protein Coding	14.26	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
14	CYP1A2	Cytochrome P450 Family 1 Subfamily A Member 2	Protein Coding	14.26	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
15	CLPX	Caseinolytic Mitochondrial Matrix Peptidase Chaperone Subunit X	Protein Coding	14.15	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
16	HMOX1	Heme Oxygenase 1	Protein Coding	13.88	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
17	TFR2	Transferrin Receptor 2	Protein Coding	13.73	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
18	TFRC	Transferrin Receptor	Protein Coding	13.7	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
19	HPX	Hemopexin	Protein Coding	13.59	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
20	SLC40A1	Solute Carrier Family 40 Member 1	Protein Coding	13.51	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
21	HJV	Hemojuvelin BMP Co-Receptor	Protein Coding	13.18	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
22	EPO	Erythropoietin	Protein Coding	13.06	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
23	ALB	Albumin	Protein Coding	13	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
24	CYBRD1	Cytochrome B Reductase 1	Protein Coding	12.6	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
25	PC	Pyruvate Carboxylase	Protein Coding	12.5	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
26	PPARGC1A	PPARG Coactivator 1 Alpha	Protein Coding	12.18	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
27	CP	Ceruloplasmin	Protein Coding	12.16	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
28	CYP2E1	Cytochrome P450 Family 2 Subfamily E Member 1	Protein Coding	11.91	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
29	CYP1A1	Cytochrome P450 Family 1 Subfamily A Member 1	Protein Coding	11.88	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
30	NR1I2	Nuclear Receptor Subfamily 1 Group I Member 2	Protein Coding	11.7	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
31	HLA-A	Major Histocompatibility Complex, Class I, A	Protein Coding	11.24	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)

Sources

Variations for Porphyria

Sources

Expression for Porphyria

Search GEO for disease gene expression data for Porphyria.

Sources

Pathways for Porphyria

Pathways related to Porphyria according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.45	UROS UROD PPOX HMOX1 HMBS FECH
2	Insulin receptor recycling ⁶⁶ Show member pathways ATP biosynthesis ⁶¹ Events associated with phagocytolytic activity of PMN cells ⁶⁶ Iron uptake and transport ⁶⁶ melatonin degradation III ⁶¹ ROS and RNS production in phagocytes ⁶⁶ Transferrin endocytosis and recycling ⁶⁶	11.58	TFRC TFR2 SLC40A1 HMOX1 HFE
3	HIF-1-alpha transcription factor network ⁶¹	11.39	TFRC HMOX1 FECH
4	superpathway of b heme biosynthesis from glycine ⁶¹ Show member pathways Defective UGT1A4 causes hyperbilirubinemia ⁶⁶ heme a biosynthesis ⁶¹ heme b biosynthesis I (aerobic) ⁶¹ heme biosynthesis ⁶¹ Heme biosynthesis ⁶⁶ Heme biosynthesis ⁷⁴ heme biosynthesis from uroporphyrinogen-III I ⁶¹ Heme degradation ⁶⁶ heme degradation I ⁶¹ Hemesynthesis defects and porphyrias ⁷⁴ Metabolism of porphyrins ⁶⁶ tetrapyrrole biosynthesis ⁶¹ tetrapyrrole biosynthesis II (from glycine) ⁶¹	11.38	UROS UROD PPOX HMOX1 HMBS FECH
5	Ferroptosis ⁷⁴	11.35	TFRC SLC40A1 HMOX1
6	3q29 copy number variation syndrome ⁷⁴	11.25	TFRC SLC40A1 HFE HAMP
7	Iron metabolism in placenta ⁷⁴	10.34	TFR2 SLC40A1
8	Hfe effect on hepcidin production ⁷⁴	10.17	HFE HAMP

Sources

GO Terms for Porphyria

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

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrion	GO:0005739	10.09	UROS TFRC PPOX FECH CPOX CLPX
2	mitochondrial inner membrane	GO:0005743	9.73	PPOX FECH CPOX CLPX ALAS2 ALAS1
3	HFE-transferrin receptor complex	GO:1990712	9.1	TFRC TFR2 HFE

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

(show all 28)

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular iron ion homeostasis	GO:0006879	10.21	SLC40A1 HPX HMOX1 HFE HAMP ALAS2
2	iron ion homeostasis	GO:0055072	10.17	FECH HAMP HFE HMOX1 SLC40A1 TFR2
3	response to hypoxia	GO:0001666	10.16	ALAD ALAS2 HMOX1 TFRC
4	response to iron ion	GO:0010039	10.15	ALAD CPOX HAMP HFE TFR2 TFRC
5	heme biosynthetic process	GO:0006783	10.11	UROS UROD PPOX HMBS FECH CPOX
6	erythrocyte differentiation	GO:0030218	10.08	GATA1 FECH ALAS2
7	acute-phase response	GO:0006953	10.04	HAMP TFR2 TFRC
8	erythrocyte development	GO:0048821	10.02	GATA1 ALAS2 ALAS1
9	porphyrin-containing compound metabolic process	GO:0006778	10.01	UROD CYP1A2 ALAS2 ALAS1 ABCB6
10	multicellular organismal iron ion homeostasis	GO:0060586	9.95	SLC40A1 HFE HAMP
11	response to arsenic-containing substance	GO:0046685	9.94	CPOX ALAD
12	positive regulation of peptide hormone secretion	GO:0090277	9.93	TFR2 HFE
13	iron ion transmembrane transport	GO:0034755	9.93	SLC40A1 HAMP
14	heme metabolic process	GO:0042168	9.93	UROD HPX HMOX1 ABCB6
15	transferrin transport	GO:0033572	9.92	TFRC TFR2
16	cellular response to arsenic-containing substance	GO:0071243	9.92	UROS HMOX1
17	heme transport	GO:0015886	9.91	HPX ABCB6
18	iron ion transport	GO:0006826	9.91	SLC40A1 TFR2 TFRC
19	cellular response to iron ion	GO:0071281	9.89	TFR2 HFE
20	hemoglobin biosynthetic process	GO:0042541	9.88	ALAS2 ALAS1
21	response to methylmercury	GO:0051597	9.88	CPOX ALAD
22	response to iron ion starvation	GO:1990641	9.86	HFE HAMP
23	response to platinum ion	GO:0070541	9.84	UROS ALAD
24	regulation of transcription from RNA polymerase II promoter in response to iron	GO:0034395	9.83	SLC40A1 HMOX1
25	tetrapyrrole biosynthetic process	GO:0033014	9.72	UROS HMBS ALAS2 ALAS1 ALAD
26	response to inorganic substance	GO:0010035	9.67	TFRC CPOX ALAD
27	porphyrin-containing compound biosynthetic process	GO:0006779	9.65	ABCB6 ALAD CPOX FECH HMBS PPOX
28	protoporphyrinogen IX biosynthetic process	GO:0006782	9.53	ALAD ALAS1 ALAS2 CPOX HMBS PPOX

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

#	Name	GO ID	Score	Top Affiliating Genes
1	heme binding	GO:0020037	9.92	HMOX1 FECH CYP1A2 ABCB6
2	co-receptor binding	GO:0039706	9.67	TFR2 HFE
3	transferrin receptor activity	GO:0004998	9.56	TFRC TFR2
4	5-aminolevulinate synthase activity	GO:0003870	9.46	ALAS2 ALAS1
5	tetrapyrrole binding	GO:0046906	9.13	FECH ABCB6
6	lyase activity	GO:0016829	9.02	UROS UROD FECH CYP1A2 ALAD

Sources

Sources for Porphyria

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: PRP029 MIFTS: 60	Porphyria Categories: Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Porphyria

Aliases & Classifications for Porphyria

MalaCards integrated aliases for Porphyria:

Characteristics:

Inheritance:

Prevelance:

Age Of Onset:

Classifications:

External Ids:

Summaries for Porphyria

Related Diseases for Porphyria

Diseases in the Porphyria family:

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

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

Graphical network of the top 20 diseases related to Porphyria:

Symptoms & Phenotypes for Porphyria

Human phenotypes related to Porphyria:

UMLS symptoms related to Porphyria:

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

MGI Mouse Phenotypes related to Porphyria:

Drugs & Therapeutics for Porphyria

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

Interventional clinical trials:

Cochrane evidence based reviews: porphyrias

Genetic Tests for Porphyria

Genetic tests related to Porphyria:

Anatomical Context for Porphyria

Organs/tissues related to Porphyria:

Publications for Porphyria

Articles related to Porphyria:

Genes for Porphyria

Genes/enhancers related to Porphyria (0 elite genes):

Variations for Porphyria

Expression for Porphyria

Pathways for Porphyria

Pathways related to Porphyria according to GeneCards Suite gene sharing:

GO Terms for Porphyria

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

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

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

Sources for Porphyria