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EPP1
MCID: PRT132
MIFTS: 62

Protoporphyria, Erythropoietic, 1 (EPP1)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Protoporphyria, Erythropoietic, 1

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MalaCards integrated aliases for Protoporphyria, Erythropoietic, 1:

Name: Protoporphyria, Erythropoietic, 1 57 73 28 5
Erythropoietic Protoporphyria 11 75 73 28 14 38 71
Epp 57 11 19 58 75 73
Ferrochelatase Deficiency 57 19 73 71
Autosomal Erythropoietic Protoporphyria 19 58 5
Protoporphyria, Erythropoietic 57 75 43
Erythrohepatic Protoporphyria 57 19 73
Heme Synthetase Deficiency 57 19 73
Protoporphyria 11 19
Epp1 57 73
Protoporphyria Erythropoietic 53

Characteristics:


Inheritance:

Protoporphyria, Erythropoietic, 1: Autosomal recessive 57
Autosomal Erythropoietic Protoporphyria: Autosomal dominant,Autosomal recessive 58

Prevelance:

Autosomal Erythropoietic Protoporphyria: <1/1000000 (Europe, France, Italy, Netherlands, Norway, Poland, Spain, Sweden, Switzerland, United Kingdom) 1-9/1000000 (Europe, France, Ireland, Italy, Poland, Spain) 1-9/100000 (Netherlands, Norway, Sweden, Switzerland, United Kingdom, Slovenia) 58

Age Of Onset:

Autosomal Erythropoietic Protoporphyria: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset usually before age 10 years
compound heterozygosity common
can resemble autosomal dominant inheritance with incomplete penetrance because the disorder often results from inheritance of a null fech allele in trans with a low-expression fech mutation that is prevalent in some populations


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Liver diseases Nephrological diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
Orphanet: 58  
Rare hepatic diseases
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:13270
OMIM® 57 177000
OMIM Phenotypic Series 57 PS177000
MeSH 43 D046351
NCIt 49 C84698
SNOMED-CT 68 51022005
ICD10 31 E80.0
MESH via Orphanet 44 D046351
ICD10 via Orphanet 32 E80.0
UMLS via Orphanet 72 C0162568
Orphanet 58 ORPHA79278
UMLS 71 C0162568 C0349426
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Summaries for Protoporphyria, Erythropoietic, 1

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GARD: 19 Erythropoietic protoporphyria (EPP) is a type of porphyria. Porphyrias are caused by an abnormality in the heme production process. Heme is essential in enabling our blood cells to carry oxygen and in breaking down chemical compounds in the liver. Erythropoietic protoporphyria is caused by pathogenic variants in the FECH gene which lead to an impaired activity of ferrocheletase (FECH), an important enzyme in heme production. This results in the build-up of protoporphyrin in the bone marrow, red blood cells, blood plasma, skin, and eventually liver. Build up of protoporphyrin can cause extreme sensitivity to sunlight, liver damage, abdominal pain, gallstones, and enlargement of the spleen. Inheritance is autosomal recessive.

MalaCards based summary: Protoporphyria, Erythropoietic, 1, also known as erythropoietic protoporphyria, is related to x-linked protoporphyria and porphyria, congenital erythropoietic, and has symptoms including pruritus, edema and burning sensation. An important gene associated with Protoporphyria, Erythropoietic, 1 is FECH (Ferrochelatase), and among its related pathways/superpathways are Metabolism and Insulin receptor recycling. The drugs Afamelanotide and Colestipol have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and bone marrow, and related phenotypes are erythema and cutaneous photosensitivity

UniProtKB/Swiss-Prot: 73 An autosomal recessive form of porphyria with onset usually before age 10 years. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals.

OMIM®: 57 Erythropoietic protoporphyria-1 is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels (Todd, 1994). (177000) (Updated 08-Dec-2022)

Orphanet: 58 Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity.

Disease Ontology: 11 An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.

Wikipedia: 75 Erythropoietic protoporphyria (or commonly called EPP) is a form of porphyria, which varies in severity... more...
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Related Diseases for Protoporphyria, Erythropoietic, 1

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Diseases in the Erythropoietic Protoporphyria, Autosomal Recessive family:

Protoporphyria, Erythropoietic, 1 Protoporphyria, Erythropoietic, 2

Diseases related to Protoporphyria, Erythropoietic, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 206)
# Related Disease Score Top Affiliating Genes
1 x-linked protoporphyria 31.5 FECH ALAS2
2 porphyria, congenital erythropoietic 30.3 UROS UROD HMBS FECH CPOX ALAD
3 erythroleukemia 30.1 FECH CPOX ALAS2
4 hypertrichosis 30.0 UROS UROD PPOX
5 photoparoxysmal response 1 30.0 UROD PPOX FECH
6 iron deficiency anemia 30.0 IREB2 FECH ACO1
7 cutaneous porphyria 29.7 UROS UROD SLC25A37 PPOX HMBS FECH
8 aplastic anemia 29.5 SLC25A38 GLRX5 FECH ALAS2 ABCB7
9 hypochromic microcytic anemia 29.5 SLC25A38 ALAS2 ACO1 ABCB7
10 variegate porphyria 29.5 UROS UROD PPOX HMBS FECH CPOX
11 porphyria cutanea tarda 29.5 UROS UROD PPOX HMBS FECH CPOX
12 microcytic anemia 29.3 IREB2 GLRX5 FECH ALAS2 ACO1
13 coproporphyria, hereditary 29.2 UROS UROD PPOX HMBS FECH CPOX
14 hemochromatosis, type 1 29.1 UROD SLC25A37 SLC25A28 IREB2 HMOX1 FECH
15 porphyria, acute intermittent 28.8 UROS UROD PPOX HMOX1 HMBS FECH
16 deficiency anemia 28.7 SLC25A38 SLC25A37 SLC25A28 IREB2 HMOX1 FECH
17 porphyria 28.6 UROS UROD PPOX HMOX1 HMBS FECH
18 sideroblastic anemia 28.2 UROD SLC25A38 SLC25A37 SLC25A28 GLRX5 FECH
19 anemia, sideroblastic, 1 27.4 UROS SLC25A38 SLC25A37 SLC25A28 IREB2 GLRX5
20 acute porphyria 27.1 UROS UROD SLC25A38 SLC25A37 SLC25A28 PPOX
21 pituitary stalk interruption syndrome 11.1
22 protoporphyria, erythropoietic, x-linked 11.0
23 protoporphyria, erythropoietic, 2 11.0
24 myelodysplastic syndrome 10.5
25 urticaria 10.5
26 lipoid proteinosis of urbach and wiethe 10.4
27 acute liver failure 10.4
28 solar urticaria 10.4
29 liver cirrhosis 10.4
30 cholelithiasis 10.4
31 rickets 10.4
32 obstructive jaundice 10.4
33 polyneuropathy 10.4
34 purpura 10.4
35 actinic prurigo 10.3
36 exanthem 10.3
37 primary biliary cholangitis 10.3
38 varicose veins 10.3
39 non-alcoholic fatty liver disease 10.3
40 esophageal varix 10.3
41 turner syndrome 10.3
42 inherited metabolic disorder 10.3
43 pigmentation anomaly of the skin 10.3
44 scleromalacia perforans 10.2 UROD CPOX
45 hypoascorbemia 10.2
46 ceroid lipofuscinosis, neuronal, 5 10.2
47 graves disease 1 10.2
48 wilson disease 10.2
49 basal cell carcinoma 1 10.2
50 cholangitis, primary sclerosing 10.2

Graphical network of the top 20 diseases related to Protoporphyria, Erythropoietic, 1:



Diseases related to Protoporphyria, Erythropoietic, 1
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Symptoms & Phenotypes for Protoporphyria, Erythropoietic, 1

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Human phenotypes related to Protoporphyria, Erythropoietic, 1:

58 30 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 erythema 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0010783
2 cutaneous photosensitivity 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000992
3 pruritus 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0000989
4 abnormal circulating porphyrin concentration 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0010472
5 cirrhosis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001394
6 microcytic anemia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001935
7 cholelithiasis 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001081
8 eczema 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000964
9 edema 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000969
10 decreased liver function 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001410
11 hypertriglyceridemia 30 HP:0002155
12 hemolytic anemia 30 HP:0001878
13 hepatic failure 30 HP:0001399

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Hematology:
hemolytic anemia

Abdomen Liver:
liver failure

Laboratory Abnormalities:
mild hypertriglyceridemia
fluorescence of red blood cells by uv microscopy
excess protoporphyrin in bile and feces but not in urine
reduced ferrochelatase activity

Skin Nails Hair Skin:
erythema
edema
itching
burning
light-sensitive dermatitis
more
Abdomen Biliary Tract:
gallstones

Clinical features from OMIM®:

177000 (Updated 08-Dec-2022)

UMLS symptoms related to Protoporphyria, Erythropoietic, 1:


pruritus; edema; burning sensation

GenomeRNAi Phenotypes related to Protoporphyria, Erythropoietic, 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.15 ABCB10 ABCB7 ACO1 ALAD ALAS1 ALAS2
2 no effect GR00402-S-2 10.15 ABCB10 ACO1 ALAS1 ALAS2 CPOX FECH

MGI Mouse Phenotypes related to Protoporphyria, Erythropoietic, 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.2 ABCB10 ABCB7 ACO1 ALAD ALAS2 CPOX
2 liver/biliary system MP:0005370 10.07 ABCB10 ABCB7 FECH HMBS HMOX1 IREB2
3 growth/size/body region MP:0005378 10.03 ABCB7 ALAD ALAS1 CLPX CPOX FECH
4 embryo MP:0005380 9.9 ABCB10 ABCB7 ALAS1 ALAS2 CLPX CPOX
5 hematopoietic system MP:0005397 9.73 ABCB10 ACO1 ALAD ALAS2 CPOX FECH
6 mortality/aging MP:0010768 9.53 ABCB10 ABCB7 ACO1 ALAD ALAS1 ALAS2
Sources

Drugs & Therapeutics for Protoporphyria, Erythropoietic, 1

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Drugs for Protoporphyria, Erythropoietic, 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Afamelanotide Approved, Investigational Phase 3 75921-69-6 16132954 16197727
2
Colestipol Approved Phase 2, Phase 3 26658-42-4 62816
3
Cysteine Approved, Nutraceutical Phase 3 52-90-4 594 5862
4 Antimetabolites Phase 2, Phase 3
5 Hypolipidemic Agents Phase 2, Phase 3
6 Lipid Regulating Agents Phase 2, Phase 3
7 Dermatologic Agents Phase 3
8
Histamine Approved, Investigational Phase 2 51-45-6 774
9
Cimetidine Approved, Investigational Phase 2 51481-61-9 2756
10
Protoporphyrin Experimental Phase 2 553-12-8
11 Anti-Ulcer Agents Phase 2
12 Neurotransmitter Agents Phase 2
13 Antacids Phase 2
14
Histamine phosphate Phase 2 51-74-1 134614
15 Histamine H2 Antagonists Phase 2
16 Histamine Antagonists Phase 2
17 Cytochrome P-450 Enzyme Inhibitors Phase 2
18 Gastrointestinal Agents Phase 2
19
Iron Approved 7439-89-6 29936
20
Aminolevulinic acid Approved 106-60-5 137
21
Isoniazid Approved, Investigational 54-85-3 3767
22 Iron Supplement
23 Anti-Bacterial Agents
24 Anti-Infective Agents
25 Antitubercular Agents

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 A Phase III, Safety Extension Study in Patients With Erythropoietic Protoporphyria (EPP) Completed NCT04578496 Phase 3 Afamelanotide
2 A Phase III, Multicentre, Double-Blind, Randomized, Placebo-Controlled Study to Confirm the Safety and Efficacy of Subcutaneous Bioresorbable Afamelanotide Implants in Patients With Erythropoietic Protoporphyria (EPP) Completed NCT01605136 Phase 3 Afamelanotide;Placebo
3 A Phase III, Multicentre, Randomised, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Subcutanenous Bioresorbable CUV1647 Implants in Patients With Erythropoietic Protoporphyria (EPP) Completed NCT04053270 Phase 3 Afamelanotide;Placebo
4 A Phase III, Multicentre, Double-Blind, Randomised, Placebo-Controlled Study to Confirm the Safety and Efficacy of Subcutaneous Bioresorbable Afamelanotide Implants in Patients With Erythropoietic Protoporphyria (EPP) Completed NCT00979745 Phase 3 Afamelanotide;Placebo
5 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
6 Sorbent Therapy of the Cutaneous Porphyrias Completed NCT01422915 Phase 2, Phase 3 Colestipol
7 A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Adults and Adolescents With Erythropoietic Protoporphyria or X-Linked Protoporphyria Completed NCT04402489 Phase 3 Placebo;MT-7117 Low Dose;MT-7117 High Dose
8 A Phase 3, Multicenter, Open-label, Long-term, Extension Study to Evaluate Safety and Tolerability of Oral Dersimelagon (MT-7117) in Subjects With Erythropoietic Protoporphyria (EPP) or X-Linked Protoporphyria (XLP) Active, not recruiting NCT05005975 Phase 3 MT-7117
9 A Phase II, Multicentre, Double-Blind, Randomised, Placebo-Controlled Study to Confirm the Safety and Efficacy of Subcutaneous Bioresorbable Afamelanotide Implants in Patients With Erythropoietic Protoporphyria (EPP) Completed NCT01097044 Phase 2 Afamelanotide;Placebo
10 A Phase II, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate Efficacy, Safety, and Tolerability of MT-7117 in Subjects With Erythropoietic Protoporphyria Completed NCT03520036 Phase 2 MT-7117 low dose;MT-7117 high dose;Placebo
11 (AURORA) A Randomized, Double-blind, Placebo-Controlled Study of Bitopertin to Evaluate the Safety, Tolerability, Efficacy, and Protoporphyrin IX (PPIX) Concentrations in Participants With Erythropoietic Protoporphyria (EPP) Recruiting NCT05308472 Phase 2 DISC-1459;Placebo
12 Effect of Oral Cimetidine in the Protoporphyrias Recruiting NCT05020184 Phase 2 Cimetidine;Placebo
13 Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria Unknown status NCT00206869
14 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Completed NCT01688895
15 7202 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC) Completed NCT01880983
16 Effect of Oral Iron Therapy on Erythrocyte Protoporphyrin Levels in the Erythropoietic Protoporphyrias Completed NCT02979249 Oral Iron
17 Light Exposure Patterns and Symptoms Among Patients With Erythropoietic Protoporphyria Completed NCT03682731
18 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 cysteine hydrochloride
19 Oral Iron Therapy in Erythropoietic Protoporphyria Not yet recruiting NCT05572125
20 Quantification of the Effects of Isoniazid Treatment on Erythrocyte and Plasma Protoporphyrin IX Concentration and Plasma Aminolevulinic Acid in Patients With Erythropoietic Protoporphyria Terminated NCT01550705 Isoniazid

Search NIH Clinical Center for Protoporphyria, Erythropoietic, 1

Cochrane evidence based reviews: protoporphyria, erythropoietic

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Genetic Tests for Protoporphyria, Erythropoietic, 1

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Genetic tests related to Protoporphyria, Erythropoietic, 1:

# Genetic test Affiliating Genes
1 Protoporphyria, Erythropoietic, 1 28 FECH
2 Erythropoietic Protoporphyria 28
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Anatomical Context for Protoporphyria, Erythropoietic, 1

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Organs/tissues related to Protoporphyria, Erythropoietic, 1:

MalaCards : Liver, Skin, Bone Marrow, Spleen, Bone, Breast, Colon
ODiseA: Blood And Bone Marrow
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Publications for Protoporphyria, Erythropoietic, 1

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Articles related to Protoporphyria, Erythropoietic, 1:

(show top 50) (show all 1216)
# Title Authors PMID Year
1
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. 53 62 57 5
18787536 2009
2
Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease. 53 62 57 5
17875872 2007
3
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. 53 62 57 5
16385445 2006
4
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria. 53 62 57 5
12601550 2003
5
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. 53 62 57 5
11753383 2002
6
Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation. 53 62 57 5
9649563 1998
7
Recessive inheritance of erythropoietic protoporphyria with liver failure. 53 62 57 5
7910885 1994
8
Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. 53 62 57 5
1755842 1991
9
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 62 57 5
14669009 2004
10
Fatal liver failure in protoporphyria. Synergism between ethanol excess and the genetic defect. 62 57 5
3940245 1986
11
Molecular epidemiology of erythropoietic protoporphyria in the U.K. 53 62 5
20105171 2010
12
Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer. 53 62 57
15574461 2005
13
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. 53 62 57
11039124 2000
14
Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. 53 62 5
10942404 2000
15
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. 53 62 57
9585598 1998
16
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele. 53 62 57
8571955 1996
17
Molecular defect in human erythropoietic protoporphyria with fatal liver failure. 53 62 5
8500787 1993
18
A molecular defect in human protoporphyria. 53 62 5
1376018 1992
19
The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria. 53 62 5
1729699 1992
20
Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria. 62 5
28054335 2017
21
Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice. 62 5
28093505 2017
22
Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene. 62 5
26280465 2016
23
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria. 62 57
24680888 2014
24
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. 62 5
23364466 2013
25
Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene. 62 57
21659066 2011
26
A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma. 62 5
19298273 2009
27
An alpha-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria. 62 57
19144952 2009
28
Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. 62 57
16911284 2006
29
Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients. 62 57
8601739 1996
30
Erythropoietic protoporphyria presenting in an adult. 62 57
7562835 1995
31
Erythropoietic protoporphyria. 62 57
7857832 1994
32
A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing. 62 5
8481408 1993
33
Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease. 62 57
1939658 1991
34
Erythropoietic protoporphyria: unusual skin and neurological problems after liver transplantation. 62 57
2019380 1991
35
Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families. 62 57
2384686 1990
36
Erythropoietic protoporphyria presenting in adulthood. 62 57
2774610 1989
37
The effect of liver transplantation in a 13-year-old boy with erythropoietic protoporphyria. 62 5
3047929 1988
38
The enzyme defect in bovine protoporphyria. Studies with purified ferrochelatase. 62 57
3805002 1987
39
Late-onset erythropoietic protoporphyria with unusual cutaneous features. 62 57
4037826 1985
40
Genetic aspects of erythropoietic protoporphyria. 62 57
6742776 1984
41
Erythropoietic protoporphyria terminating in liver failure. 62 57
7114870 1982
42
Characterization of deficient heme synthase activity in protoporphyria with cultured skin fibroblasts. 62 57
7356682 1980
43
Pathogenesis and therapy of liver disease in protoporphyria. 62 57
452621 1979
44
Erythropoietic protoporphyria. 62 57
350784 1978
45
Enzymatic defects of hereditary porphyrias: an explanation of dominance at the molecular level. 62 57
340378 1977
46
The long term treatment with beta-carotene in erythropoietic protoporphyria: a controlled trial. 62 57
341955 1977
47
Erythropoietic protoporphyria: juvenile protoporphyrin hepatopathy cirrhosis and death. 62 57
911406 1977
48
Erythropoietic protoporphyria. 10 years experience. 62 57
1251847 1976
49
Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts. 62 57
1184741 1975
50
Hepatic disease in erythropoietic protoporphyria. 62 57
1138541 1975
Sources

Variations for Protoporphyria, Erythropoietic, 1

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ClinVar genetic disease variations for Protoporphyria, Erythropoietic, 1:

5 (show top 50) (show all 165)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FECH NM_000140.5(FECH):c.1250T>C (p.Phe417Ser) SNV Pathogenic
 551 rs118204039 GRCh37: 18:55217966-55217966
GRCh38: 18:57550734-57550734
2 FECH NM_000140.5(FECH):c.1077+1G>A SNV Pathogenic
 552 rs786205245 GRCh37: 18:55221491-55221491
GRCh38: 18:57554259-57554259
3 FECH NM_000140.5(FECH):c.1137+3A>G SNV Pathogenic
 553 rs202147607 GRCh37: 18:55218544-55218544
GRCh38: 18:57551312-57551312
4 FECH NM_000140.5(FECH):c.1085T>G (p.Val362Gly) SNV Pathogenic
 554 rs118204040 GRCh37: 18:55218599-55218599
GRCh38: 18:57551367-57551367
5 FECH NM_000140.5(FECH):c.314+2T>G SNV Pathogenic
 555 rs149067146 GRCh37: 18:55240476-55240476
GRCh38: 18:57573244-57573244
6 FECH NM_000140.5(FECH):c.314+6A>C SNV Pathogenic
 556 rs786205246 GRCh37: 18:55240472-55240472
GRCh38: 18:57573240-57573240
7 FECH NM_000140.3(FECH):c.1078_1137del SNV Pathogenic
 557 rs879255507 GRCh37: 18:55218549-55218549
GRCh38: 18:57551317-57551317
8 FECH NM_000140.5(FECH):c.1136del (p.Lys379fs) DEL Pathogenic
 558 rs764466739 GRCh37: 18:55218548-55218548
GRCh38: 18:57551316-57551316
9 FECH NM_000140.5(FECH):c.194+11A>G SNV Pathogenic
 559 rs786205247 GRCh37: 18:55247294-55247294
GRCh38: 18:57580062-57580062
10 FECH NM_000140.5(FECH):c.580_584del (p.Tyr194fs) DEL Pathogenic
 560 rs786205248 GRCh37: 18:55233693-55233697
GRCh38: 18:57566461-57566465
11 FECH NM_000140.5(FECH):c.1224T>A (p.Asn408Lys) SNV Pathogenic
 561 rs267606803 GRCh37: 18:55217992-55217992
GRCh38: 18:57550760-57550760
12 FECH NM_000140.5(FECH):c.553G>A (p.Ala185Thr) SNV Pathogenic
 30951 rs397514476 GRCh37: 18:55233724-55233724
GRCh38: 18:57566492-57566492
13 FECH NM_000140.5(FECH):c.598+1G>T SNV Pathogenic
 803500 rs1598996309 GRCh37: 18:55233678-55233678
GRCh38: 18:57566446-57566446
14 FECH NM_000140.5(FECH):c.286C>T (p.Arg96Ter) SNV Pathogenic
 1322894 GRCh37: 18:55240506-55240506
GRCh38: 18:57573274-57573274
15 FECH NM_000140.5(FECH):c.1217G>A (p.Cys406Tyr) SNV Pathogenic
 1409435 GRCh37: 18:55217999-55217999
GRCh38: 18:57550767-57550767
16 FECH NM_000140.5(FECH):c.820G>A (p.Asp274Asn) SNV Pathogenic
 631802 rs146269992 GRCh37: 18:55222169-55222169
GRCh38: 18:57554937-57554937
17 FECH NM_000140.5(FECH):c.315-48T>C SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
 562 rs2272783 GRCh37: 18:55238820-55238820
GRCh38: 18:57571588-57571588
18 FECH NM_000140.5(FECH):c.854A>G (p.Gln285Arg) SNV Pathogenic/Likely Pathogenic
 327428 rs370708663 GRCh37: 18:55222135-55222135
GRCh38: 18:57554903-57554903
19 FECH NM_000140.5(FECH):c.47del (p.Gly16fs) DEL Likely Pathogenic
 930105 rs2051380165 GRCh37: 18:55253806-55253806
GRCh38: 18:57586574-57586574
20 FECH NM_000140.5(FECH):c.1001C>T (p.Pro334Leu) SNV Likely Pathogenic
 375409 rs150146721 GRCh37: 18:55221568-55221568
GRCh38: 18:57554336-57554336
21 FECH NM_000140.5(FECH):c.365del (p.Gln122fs) DEL Likely Pathogenic
 803501 rs1599003455 GRCh37: 18:55238722-55238722
GRCh38: 18:57571490-57571490
22 FECH NM_000140.5(FECH):c.913G>T (p.Val305Phe) SNV Likely Pathogenic
 623168 rs765518889 GRCh37: 18:55221656-55221656
GRCh38: 18:57554424-57554424
23 FECH NM_000140.5(FECH):c.181C>T (p.Gln61Ter) SNV Likely Pathogenic
 1184619 GRCh37: 18:55247318-55247318
GRCh38: 18:57580086-57580086
24 FECH NM_000140.5(FECH):c.599-3C>T SNV Likely Pathogenic
 803499 rs765069812 GRCh37: 18:55230215-55230215
GRCh38: 18:57562983-57562983
25 FECH NM_000140.5(FECH):c.68-23C>T SNV Conflicting Interpretations Of Pathogenicity
 550 rs2269219 GRCh37: 18:55247454-55247454
GRCh38: 18:57580222-57580222
26 FECH NM_000140.5(FECH):c.229G>A (p.Gly77Arg) SNV Uncertain Significance
 992439 rs2051141708 GRCh37: 18:55240563-55240563
GRCh38: 18:57573331-57573331
27 FECH NM_000140.5(FECH):c.959A>G (p.Lys320Arg) SNV Uncertain Significance
 1029666 rs371224528 GRCh37: 18:55221610-55221610
GRCh38: 18:57554378-57554378
28 FECH NM_000140.5(FECH):c.185C>G (p.Pro62Arg) SNV Uncertain Significance
 631803 rs150830931 GRCh37: 18:55247314-55247314
GRCh38: 18:57580082-57580082
29 FECH NM_000140.5(FECH):c.*2459_*2461dup DUP Uncertain Significance
 327376 rs529946604 GRCh37: 18:55215482-55215483
GRCh38: 18:57548250-57548251
30 FECH NM_000140.5(FECH):c.*1170_*1176delinsAAATCTTCTATGTTTGTATTACTCTCTGGTAA INDEL Uncertain Significance
 327399 rs886053988 GRCh37: 18:55216768-55216774
GRCh38: 18:57549536-57549542
31 FECH NM_000140.5(FECH):c.464-4A>G SNV Uncertain Significance
 890412 rs1265864647 GRCh37: 18:55233817-55233817
GRCh38: 18:57566585-57566585
32 FECH NM_000140.5(FECH):c.1078-6A>G SNV Uncertain Significance
 892152 rs2050796264 GRCh37: 18:55218612-55218612
GRCh38: 18:57551380-57551380
33 FECH NM_000140.5(FECH):c.*4528C>T SNV Uncertain Significance
 327336 rs564734119 GRCh37: 18:55213416-55213416
GRCh38: 18:57546184-57546184
34 FECH NM_000140.5(FECH):c.*4449A>G SNV Uncertain Significance
 327339 rs886053968 GRCh37: 18:55213495-55213495
GRCh38: 18:57546263-57546263
35 FECH NM_000140.5(FECH):c.*4598T>G SNV Uncertain Significance
 327333 rs886053967 GRCh37: 18:55213346-55213346
GRCh38: 18:57546114-57546114
36 FECH NM_000140.5(FECH):c.*3788A>G SNV Uncertain Significance
 327353 rs886053971 GRCh37: 18:55214156-55214156
GRCh38: 18:57546924-57546924
37 FECH NM_000140.5(FECH):c.*1287T>A SNV Uncertain Significance
 327398 rs113654252 GRCh37: 18:55216657-55216657
GRCh38: 18:57549425-57549425
38 FECH NM_000140.5(FECH):c.*1175G>A SNV Uncertain Significance
 327401 rs886053990 GRCh37: 18:55216769-55216769
GRCh38: 18:57549537-57549537
39 FECH NM_000140.5(FECH):c.*4720T>C SNV Uncertain Significance
 327332 rs760022638 GRCh37: 18:55213224-55213224
GRCh38: 18:57545992-57545992
40 FECH NM_000140.5(FECH):c.*3656C>T SNV Uncertain Significance
 327358 rs886053974 GRCh37: 18:55214288-55214288
GRCh38: 18:57547056-57547056
41 FECH NM_000140.5(FECH):c.*1071C>G SNV Uncertain Significance
 327404 rs886053992 GRCh37: 18:55216873-55216873
GRCh38: 18:57549641-57549641
42 FECH NM_000140.5(FECH):c.*4337G>A SNV Uncertain Significance
 327344 rs747976113 GRCh37: 18:55213607-55213607
GRCh38: 18:57546375-57546375
43 FECH NM_000140.5(FECH):c.935G>T (p.Gly312Val) SNV Uncertain Significance
 327424 rs886053998 GRCh37: 18:55221634-55221634
GRCh38: 18:57554402-57554402
44 FECH NM_000140.5(FECH):c.*5170T>C SNV Uncertain Significance
 327321 rs886053966 GRCh37: 18:55212774-55212774
GRCh38: 18:57545542-57545542
45 FECH NM_000140.5(FECH):c.*2446G>T SNV Uncertain Significance
 327381 rs4940895 GRCh37: 18:55215498-55215498
GRCh38: 18:57548266-57548266
46 FECH NM_000140.5(FECH):c.*1966G>T SNV Uncertain Significance
 327387 rs779669357 GRCh37: 18:55215978-55215978
GRCh38: 18:57548746-57548746
47 FECH NM_000140.5(FECH):c.*825T>C SNV Uncertain Significance
 327410 rs886053993 GRCh37: 18:55217119-55217119
GRCh38: 18:57549887-57549887
48 FECH NM_000140.5(FECH):c.*3976C>T SNV Uncertain Significance
 327350 rs886053970 GRCh37: 18:55213968-55213968
GRCh38: 18:57546736-57546736
49 FECH NM_000140.5(FECH):c.819C>T (p.Gly273=) SNV Uncertain Significance
 327429 rs138840143 GRCh37: 18:55222170-55222170
GRCh38: 18:57554938-57554938
50 FECH NM_000140.5(FECH):c.*60T>C SNV Uncertain Significance
 327422 rs886053996 GRCh37: 18:55217884-55217884
GRCh38: 18:57550652-57550652

UniProtKB/Swiss-Prot genetic disease variations for Protoporphyria, Erythropoietic, 1:

73 (show all 23)
# Symbol AA change Variation ID SNP ID
1 FECH p.Gly55Cys VAR_002383 rs3848519
2 FECH p.Ile186Thr VAR_002384 rs1598996367
3 FECH p.Met267Ile VAR_002385 rs118204037
4 FECH p.His386Pro VAR_002386
5 FECH p.Phe417Ser VAR_002387 rs118204039
6 FECH p.Pro62Arg VAR_030553 rs150830931
7 FECH p.Ile71Lys VAR_030554
8 FECH p.Gln139Leu VAR_030555 rs1356965294
9 FECH p.Ser151Pro VAR_030556
10 FECH p.Glu178Lys VAR_030557 rs1160565035
11 FECH p.Leu182Arg VAR_030558
12 FECH p.Tyr191His VAR_030559 rs1055019947
13 FECH p.Pro192Thr VAR_030560
14 FECH p.Cys236Tyr VAR_030561 rs761962617
15 FECH p.Phe260Leu VAR_030562
16 FECH p.Thr283Ile VAR_030563
17 FECH p.Met288Lys VAR_030564
18 FECH p.Pro334Leu VAR_030565 rs150146721
19 FECH p.Val362Gly VAR_030566 rs118204040
20 FECH p.Lys379Asn VAR_030567
21 FECH p.Cys406Ser VAR_030568
22 FECH p.Cys406Tyr VAR_030569 rs1324421474
23 FECH p.Ser264Leu VAR_054629

Sources

Expression for Protoporphyria, Erythropoietic, 1

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Search GEO for disease gene expression data for Protoporphyria, Erythropoietic, 1.
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Pathways for Protoporphyria, Erythropoietic, 1

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Pathways related to Protoporphyria, Erythropoietic, 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.26 UROS UROD SLC25A37 SLC25A28 PPOX HMOX1
2
Insulin receptor recycling 66
Show member pathways
 11.73 IREB2 HMOX1 ACO1
3
heme biosynthesis 66 74 61
Show member pathways
 11.38 UROS UROD PPOX HMOX1 HMBS FECH
4
Mitochondrial iron-sulfur cluster biogenesis 66
Show member pathways
 10.48 SLC25A37 SLC25A28 GLRX5
5
Iron metabolism in placenta 74
10.16 IREB2 ACO1
Sources

GO Terms for Protoporphyria, Erythropoietic, 1

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Cellular components related to Protoporphyria, Erythropoietic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 10.1 ABCB10 ABCB7 ACO1 ALAS1 ALAS2 CLPX
2 mitochondrial matrix GO:0005759 9.96 GLRX5 FECH CLPX ALAS2 ALAS1
3 mitochondrial membrane GO:0031966 9.7 SLC25A37 SLC25A28 PPOX ABCB10
4 mitochondrial inner membrane GO:0005743 9.66 SLC25A38 SLC25A37 SLC25A28 PPOX FECH CPOX

Biological processes related to Protoporphyria, Erythropoietic, 1 according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 iron ion homeostasis GO:0055072 10.17 SLC25A37 SLC25A28 IREB2 HMOX1 GLRX5 FECH
2 protoporphyrinogen IX biosynthetic process GO:0006782 10.11 ALAD ALAS1 ALAS2 CPOX HMBS IREB2
3 cellular iron ion homeostasis GO:0006879 10.07 ABCB7 ACO1 ALAS2 HMOX1 IREB2
4 erythrocyte differentiation GO:0030218 10.04 SLC25A38 FECH ALAS2
5 heme biosynthetic process GO:0006783 10 UROS UROD SLC25A38 PPOX HMBS FECH
6 erythrocyte development GO:0048821 9.95 ALAS2 ALAS1 ABCB10
7 response to iron ion GO:0010039 9.91 CPOX ALAD
8 intestinal absorption GO:0050892 9.9 IREB2 ACO1
9 response to arsenic-containing substance GO:0046685 9.89 CPOX ALAD
10 erythrocyte homeostasis GO:0034101 9.88 IREB2 HMOX1
11 cellular response to arsenic-containing substance GO:0071243 9.88 UROS HMOX1
12 positive regulation of hemoglobin biosynthetic process GO:0046985 9.86 SLC25A37 ABCB10
13 hemoglobin biosynthetic process GO:0042541 9.85 ALAS2 ALAS1
14 response to methylmercury GO:0051597 9.84 ALAD CPOX
15 citrate metabolic process GO:0006101 9.81 IREB2 ACO1
16 positive regulation of heme biosynthetic process GO:0070455 9.8 ABCB7 ABCB10
17 response to lead ion GO:0010288 9.79 CPOX ALAD
18 response to platinum ion GO:0070541 9.76 UROS ALAD
19 iron import into the mitochondrion GO:0048250 9.73 SLC25A37 SLC25A28
20 porphyrin-containing compound metabolic process GO:0006778 9.71 UROD ALAS2 ALAS1
21 tetrapyrrole biosynthetic process GO:0033014 9.65 UROS HMBS ALAS2 ALAS1 ALAD
22 heme metabolic process GO:0042168 9.52 UROD HMOX1
23 porphyrin-containing compound biosynthetic process GO:0006779 9.23 ALAD CPOX FECH HMBS PPOX UROD

Molecular functions related to Protoporphyria, Erythropoietic, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ferrous iron transmembrane transporter activity GO:0015093 9.67 SLC25A37 SLC25A28
2 aconitate hydratase activity GO:0003994 9.62 IREB2 ACO1
3 5-aminolevulinate synthase activity GO:0003870 9.56 ALAS2 ALAS1
4 iron-sulfur cluster binding GO:0051536 9.46 IREB2 GLRX5 FECH ACO1
5 lyase activity GO:0016829 9.35 UROS UROD FECH ALAD ACO1
6 iron-responsive element binding GO:0030350 9.1 IREB2 FECH ACO1
Sources

Sources for Protoporphyria, Erythropoietic, 1

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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