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EPP1
MCID: PRT132
MIFTS: 61

Protoporphyria, Erythropoietic, 1 (EPP1)

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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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 72 29 6
Erythropoietic Protoporphyria 12 73 72 29 15 39 70
Epp 57 12 73 58 72
Protoporphyria, Erythropoietic 57 73 44
Ferrochelatase Deficiency 57 72 70
Erythrohepatic Protoporphyria 57 72
Heme Synthetase Deficiency 57 72
Protoporphyria 12 20
Epp1 57 72
Autosomal Erythropoietic Protoporphyria 58
Protoporphyria, Erythropoietic; Epp 57
Protoporphyria Erythropoietic 54

Characteristics:

Orphanet epidemiological data:

58
autosomal erythropoietic protoporphyria
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
protoporphyria, erythropoietic, 1:
Inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Liver diseases Nephrological diseases Skin diseases Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare hepatic diseases
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:13270
OMIM® 57 177000
OMIM Phenotypic Series 57 PS177000
MeSH 44 D046351
NCIt 50 C84698
SNOMED-CT 67 51022005
ICD10 32 E80.0
MESH via Orphanet 45 D046351
ICD10 via Orphanet 33 E80.0
UMLS via Orphanet 71 C0162568
Orphanet 58 ORPHA79278
UMLS 70 C0162568 C0349426
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Summaries for Protoporphyria, Erythropoietic, 1

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UniProtKB/Swiss-Prot : 72 Protoporphyria, erythropoietic, 1: 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.

MalaCards based summary : Protoporphyria, Erythropoietic, 1, also known as erythropoietic protoporphyria, is related to x-linked protoporphyria and photoparoxysmal response 1, 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 Biosynthesis of cofactors. The drugs Afamelanotide and Colestipol have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and bone, and related phenotypes are cholelithiasis and erythema

Disease Ontology : 12 An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.

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 20-May-2021)

Wikipedia : 73 Erythropoietic protoporphyria is a form of porphyria, which varies in severity and can be very painful.... more...

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Related Diseases for Protoporphyria, Erythropoietic, 1

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Diseases in the Autosomal Erythropoietic Protoporphyria family:

Protoporphyria, Erythropoietic, 1 Protoporphyria, Erythropoietic, 2
Erythropoietic Protoporphyria, Autosomal Recessive

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

(show top 50) (show all 155)
# Related Disease Score Top Affiliating Genes
1 x-linked protoporphyria 31.6 FECH ALAS2
2 photoparoxysmal response 1 31.0 UROD PPOX FECH
3 cutaneous porphyria 30.2 UROS UROD SLC25A37 PPOX HMBS FECH
4 hypertrichosis 30.1 UROS UROD PPOX
5 porphyria, congenital erythropoietic 29.9 UROS UROD HMBS FECH CPOX ALAD
6 porphyria cutanea tarda 29.9 UROS UROD PPOX HMBS FECH CPOX
7 coproporphyria, hereditary 29.5 UROS UROD PPOX HMBS FECH CPOX
8 variegate porphyria 29.4 UROS UROD PPOX HMBS FECH CPOX
9 microcytic anemia 29.4 IREB2 GLRX5 ALAS2 ACO1
10 porphyria 29.2 UROS UROD PPOX HMOX1 HMBS FECH
11 hypochromic microcytic anemia 29.2 SLC25A38 IREB2 GLRX5 ALAS2 ACO1
12 hemochromatosis, type 1 28.8 UROD SLC25A37 SLC25A28 IREB2 HMOX1 FECH
13 porphyria, acute intermittent 28.7 UROS UROD PPOX HMOX1 HMBS FECH
14 acute porphyria 28.5 UROS UROD SLC25A37 PPOX IREB2 HMOX1
15 sideroblastic anemia 28.3 UROD SLC25A38 IREB2 GLRX5 FECH ALAS2
16 deficiency anemia 27.9 UROS SLC25A38 SLC25A37 SLC25A28 PPOX IREB2
17 anemia, sideroblastic, 1 27.2 UROS SLC25A38 SLC25A37 SLC25A28 IREB2 GLRX5
18 autosomal erythropoietic protoporphyria 11.4
19 protoporphyria, erythropoietic, x-linked 10.9
20 protoporphyria, erythropoietic, 2 10.9
21 urticaria 10.5
22 lipoid proteinosis of urbach and wiethe 10.4
23 myelodysplastic syndrome 10.4
24 solar urticaria 10.4
25 cholelithiasis 10.4
26 polyneuropathy 10.4
27 purpura 10.4
28 exanthem 10.3
29 rickets 10.3
30 acute liver failure 10.3
31 liver cirrhosis 10.3
32 erythrasma 10.3 PPOX CPOX
33 varicose veins 10.3
34 esophageal varix 10.3
35 scleromalacia perforans 10.2 UROD CPOX
36 neuropathy, hereditary sensory and autonomic, type viii 10.2 HMOX1 ALAS1
37 autosomal recessive disease 10.2
38 non-alcoholic fatty liver disease 10.2
39 sclerosing cholangitis 10.2
40 hypogonadism 10.2
41 basal cell carcinoma 10.2
42 contact dermatitis 10.2
43 skin disease 10.2
44 inherited metabolic disorder 10.2
45 axonal neuropathy 10.2
46 hyperthyroidism 10.2
47 lupus erythematosus 10.2
48 cholangitis 10.2
49 hydroa vacciniforme 10.2
50 chronic actinic dermatitis 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 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cholelithiasis 58 31 Occasional (29-5%) HP:0001081
2 erythema 58 31 Very frequent (99-80%) HP:0010783
3 eczema 58 31 Occasional (29-5%) HP:0000964
4 pruritus 58 31 Very frequent (99-80%) HP:0000989
5 edema 58 31 Occasional (29-5%) HP:0000969
6 hypertriglyceridemia 31 HP:0002155
7 cirrhosis 58 Occasional (29-5%)
8 microcytic anemia 58 Occasional (29-5%)
9 hemolytic anemia 31 HP:0001878
10 hepatic failure 31 HP:0001399
11 cutaneous photosensitivity 58 Very frequent (99-80%)
12 abnormal circulating porphyrin concentration 58 Very frequent (99-80%)
13 decreased liver function 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

UMLS symptoms related to Protoporphyria, Erythropoietic, 1:


pruritus; edema; burning sensation

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10 ABCB7
2 Decreased viability GR00249-S 10 ABCB7 ALAS1 ALAS2 HMBS PPOX SLC25A37
3 Decreased viability GR00381-A-1 10 HMBS PPOX SLC25A37 UROD UROS
4 Decreased viability GR00386-A-1 10 ACO1 ALAD FECH HMBS IREB2 PPOX
5 Decreased viability GR00402-S-2 10 ABCB7 ALAD CLPX SLC25A37
6 Increased the percentage of infected cells GR00402-S-1 8.32 IREB2

MGI Mouse Phenotypes related to Protoporphyria, Erythropoietic, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.03 ABCB10 ABCB6 ALAD ALAS2 CPOX FECH
2 homeostasis/metabolism MP:0005376 10.03 ABCB10 ABCB6 ABCB7 ACO1 ALAD ALAS2
3 embryo MP:0005380 10.02 ABCB10 ABCB7 ALAS1 ALAS2 CLPX CPOX
4 liver/biliary system MP:0005370 9.61 ABCB10 ABCB7 FECH HMBS HMOX1 IREB2
5 mortality/aging MP:0010768 9.55 ABCB10 ABCB6 ABCB7 ACO1 ALAD ALAS1
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 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Afamelanotide Approved, Investigational Phase 3 75921-69-6
2
Colestipol Approved Phase 2, Phase 3 26658-42-4
3
Cysteine Approved, Nutraceutical Phase 3 52-90-4 5862
4 Dermatologic Agents Phase 3
5 Antimetabolites Phase 2, Phase 3
6 Hypolipidemic Agents Phase 2, Phase 3
7 Lipid Regulating Agents Phase 2, Phase 3
8
Iron Approved 7439-89-6 23925 29936
9
Aminolevulinic acid Approved 106-60-5 137
10
Isoniazid Approved, Investigational 54-85-3 3767
11
Protoporphyrin IX Experimental 553-12-8
12 Iron Supplement
13 Anti-Bacterial Agents
14 Anti-Infective Agents
15 Antitubercular Agents

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
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, 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
4 A Phase III, Safety Extension Study in Patients With Erythropoietic Protoporphyria (EPP) Completed NCT04578496 Phase 3 Afamelanotide
5 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
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 Recruiting NCT04402489 Phase 3 Placebo;MT-7117 Low Dose;MT-7117 High Dose
8 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
9 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
10 Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria Unknown status NCT00206869
11 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Completed NCT01688895
12 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 cysteine hydrochloride
13 Light Exposure Patterns and Symptoms Among Patients With Erythropoietic Protoporphyria Completed NCT03682731
14 Effect of Oral Iron Therapy on Erythrocyte Protoporphyrin Levels in the Erythropoietic Protoporphyrias Completed NCT02979249 Oral Iron
15 Longitudinal Study of the Porphyrias Recruiting NCT01561157
16 7202 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC) Active, not recruiting NCT01880983
17 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 29 FECH
2 Erythropoietic Protoporphyria 29
Sources

Anatomical Context for Protoporphyria, Erythropoietic, 1

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MalaCards organs/tissues related to Protoporphyria, Erythropoietic, 1:

40
Liver, Skin, Bone, Bone Marrow, Brain, Kidney, Breast
Sources

Publications for Protoporphyria, Erythropoietic, 1

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Articles related to Protoporphyria, Erythropoietic, 1:

(show top 50) (show all 936)
# Title Authors PMID Year
1
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. 6 57 61 54
18787536 2009
2
Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease. 54 57 61 6
17875872 2007
3
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. 61 6 57 54
16385445 2006
4
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. 6 57 54 61
11753383 2002
5
Recessive inheritance of erythropoietic protoporphyria with liver failure. 6 57 54 61
7910885 1994
6
Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. 6 57 54 61
1755842 1991
7
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 61 57 6
14669009 2004
8
Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation. 54 6 57
9649563 1998
9
Fatal liver failure in protoporphyria. Synergism between ethanol excess and the genetic defect. 6 57
3940245 1986
10
Molecular epidemiology of erythropoietic protoporphyria in the U.K. 6 54 61
20105171 2010
11
Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer. 57 54 61
15574461 2005
12
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria. 61 57 54
12601550 2003
13
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. 57 54 61
11039124 2000
14
Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. 6 54 61
10942404 2000
15
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. 61 54 57
9585598 1998
16
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele. 57 54 61
8571955 1996
17
Molecular defect in human erythropoietic protoporphyria with fatal liver failure. 54 6 61
8500787 1993
18
The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria. 54 61 6
1729699 1992
19
Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice. 6 61
28093505 2017
20
Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria. 61 6
28054335 2017
21
Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene. 6 61
26280465 2016
22
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria. 57 61
24680888 2014
23
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. 6 61
23364466 2013
24
Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene. 61 57
21659066 2011
25
A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma. 61 6
19298273 2009
26
An alpha-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria. 61 57
19144952 2009
27
Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. 61 57
16911284 2006
28
Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients. 57 61
8601739 1996
29
Erythropoietic protoporphyria presenting in an adult. 57 61
7562835 1995
30
Erythropoietic protoporphyria. 57 61
7857832 1994
31
A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing. 6 61
8481408 1993
32
A molecular defect in human protoporphyria. 54 6
1376018 1992
33
Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease. 61 57
1939658 1991
34
Erythropoietic protoporphyria: unusual skin and neurological problems after liver transplantation. 61 57
2019380 1991
35
Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families. 61 57
2384686 1990
36
Erythropoietic protoporphyria presenting in adulthood. 61 57
2774610 1989
37
The effect of liver transplantation in a 13-year-old boy with erythropoietic protoporphyria. 61 6
3047929 1988
38
Late-onset erythropoietic protoporphyria with unusual cutaneous features. 61 57
4037826 1985
39
Genetic aspects of erythropoietic protoporphyria. 57 61
6742776 1984
40
Erythropoietic protoporphyria terminating in liver failure. 61 57
7114870 1982
41
Erythropoietic protoporphyria. 57 61
350784 1978
42
The long term treatment with beta-carotene in erythropoietic protoporphyria: a controlled trial. 61 57
341955 1977
43
Erythropoietic protoporphyria: juvenile protoporphyrin hepatopathy cirrhosis and death. 61 57
911406 1977
44
Erythropoietic protoporphyria. 10 years experience. 61 57
1251847 1976
45
Hepatic disease in erythropoietic protoporphyria. 61 57
1138541 1975
46
Erythropoietic protoporphyria: evidence for multiple sites of excess protoporphyrin formation. 57 61
5101296 1971
47
Erythropoietic protoporphyria. 61 57
4109278 1971
48
Erythropoietic protoporphyria. A clinical and genetic study. 61 57
5536249 1970
49
Beta-carotene as a photoprotective agent in erythropoietic protoporphyria. 61 57
5442632 1970
50
Erythropoietic protoporphyria: a family study. 61 57
6019665 1967
Sources

Variations for Protoporphyria, Erythropoietic, 1

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ClinVar genetic disease variations for Protoporphyria, Erythropoietic, 1:

6 (show top 50) (show all 154)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FECH NM_000140.4(FECH):c.1250T>C (p.Phe417Ser) SNV Pathogenic 551 rs118204039 GRCh37: 18:55217966-55217966
GRCh38: 18:57550734-57550734
2 FECH NM_000140.4(FECH):c.1077+1G>A SNV Pathogenic 552 rs786205245 GRCh37: 18:55221491-55221491
GRCh38: 18:57554259-57554259
3 FECH NM_000140.4(FECH):c.1137+3A>G SNV Pathogenic 553 rs202147607 GRCh37: 18:55218544-55218544
GRCh38: 18:57551312-57551312
4 FECH NM_000140.4(FECH):c.1085T>G (p.Val362Gly) SNV Pathogenic 554 rs118204040 GRCh37: 18:55218599-55218599
GRCh38: 18:57551367-57551367
5 FECH NM_000140.4(FECH):c.314+2T>G SNV Pathogenic 555 rs149067146 GRCh37: 18:55240476-55240476
GRCh38: 18:57573244-57573244
6 FECH NM_000140.4(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_000140.4(FECH):c.1136del (p.Lys379fs) Deletion Pathogenic 558 rs764466739 GRCh37: 18:55218548-55218548
GRCh38: 18:57551316-57551316
9 FECH NM_000140.4(FECH):c.194+11A>G SNV Pathogenic 559 rs786205247 GRCh37: 18:55247294-55247294
GRCh38: 18:57580062-57580062
10 FECH NM_000140.4(FECH):c.580_584del (p.Tyr194fs) Deletion Pathogenic 560 rs786205248 GRCh37: 18:55233693-55233697
GRCh38: 18:57566461-57566465
11 FECH NM_000140.4(FECH):c.1224T>A (p.Asn408Lys) SNV Pathogenic 561 rs267606803 GRCh37: 18:55217992-55217992
GRCh38: 18:57550760-57550760
12 FECH NM_000140.4(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_000140.4(FECH):c.315-48T>C SNV Pathogenic 562 rs2272783 GRCh37: 18:55238820-55238820
GRCh38: 18:57571588-57571588
15 FECH NM_000140.4(FECH):c.820G>A (p.Asp274Asn) SNV Pathogenic 631802 rs146269992 GRCh37: 18:55222169-55222169
GRCh38: 18:57554937-57554937
16 FECH NM_000140.5(FECH):c.599-3C>T SNV Likely pathogenic 803499 rs765069812 GRCh37: 18:55230215-55230215
GRCh38: 18:57562983-57562983
17 FECH NM_000140.5(FECH):c.47del (p.Gly16fs) Deletion Likely pathogenic 930105 GRCh37: 18:55253806-55253806
GRCh38: 18:57586574-57586574
18 FECH NM_000140.5(FECH):c.365del (p.Gln122fs) Deletion Likely pathogenic 803501 rs1599003455 GRCh37: 18:55238722-55238722
GRCh38: 18:57571490-57571490
19 FECH NM_000140.4(FECH):c.1001C>T (p.Pro334Leu) SNV Likely pathogenic 375409 rs150146721 GRCh37: 18:55221568-55221568
GRCh38: 18:57554336-57554336
20 FECH NM_000140.4(FECH):c.913G>T (p.Val305Phe) SNV Likely pathogenic 623168 rs765518889 GRCh37: 18:55221656-55221656
GRCh38: 18:57554424-57554424
21 FECH NM_000140.4(FECH):c.854A>G (p.Gln285Arg) SNV Likely pathogenic 327428 rs370708663 GRCh37: 18:55222135-55222135
GRCh38: 18:57554903-57554903
22 FECH NM_000140.4(FECH):c.315-48T>C SNV Conflicting interpretations of pathogenicity 562 rs2272783 GRCh37: 18:55238820-55238820
GRCh38: 18:57571588-57571588
23 FECH NM_000140.4(FECH):c.*2079C>T SNV Uncertain significance 327385 rs886053983 GRCh37: 18:55215865-55215865
GRCh38: 18:57548633-57548633
24 FECH NM_000140.4(FECH):c.*5090G>A SNV Uncertain significance 327325 rs776370345 GRCh37: 18:55212854-55212854
GRCh38: 18:57545622-57545622
25 FECH NM_000140.4(FECH):c.*1173A>T SNV Uncertain significance 327402 rs868017208 GRCh37: 18:55216771-55216771
GRCh38: 18:57549539-57549539
26 FECH NM_000140.4(FECH):c.*1950A>G SNV Uncertain significance 327388 rs886053985 GRCh37: 18:55215994-55215994
GRCh38: 18:57548762-57548762
27 FECH NM_000140.4(FECH):c.*4336A>G SNV Uncertain significance 327345 rs769571284 GRCh37: 18:55213608-55213608
GRCh38: 18:57546376-57546376
28 FECH NM_000140.4(FECH):c.*5349C>T SNV Uncertain significance 327319 rs189146107 GRCh37: 18:55212595-55212595
GRCh38: 18:57545363-57545363
29 FECH NM_000140.4(FECH):c.*3753_*3754insT Insertion Uncertain significance 327354 rs886053972 GRCh37: 18:55214190-55214191
GRCh38: 18:57546958-57546959
30 FECH NM_000140.4(FECH):c.*394C>G SNV Uncertain significance 327417 rs781751487 GRCh37: 18:55217550-55217550
GRCh38: 18:57550318-57550318
31 FECH NM_000140.4(FECH):c.*2600G>A SNV Uncertain significance 327371 rs886053976 GRCh37: 18:55215344-55215344
GRCh38: 18:57548112-57548112
32 FECH NM_000140.4(FECH):c.*2513G>A SNV Uncertain significance 327374 rs886053978 GRCh37: 18:55215431-55215431
GRCh38: 18:57548199-57548199
33 FECH NM_000140.4(FECH):c.912+14A>G SNV Uncertain significance 327427 rs886053999 GRCh37: 18:55222063-55222063
GRCh38: 18:57554831-57554831
34 FECH NM_000140.4(FECH):c.*443A>C SNV Uncertain significance 327415 rs886053994 GRCh37: 18:55217501-55217501
GRCh38: 18:57550269-57550269
35 FECH NM_000140.4(FECH):c.*2599C>T SNV Uncertain significance 327372 rs886053977 GRCh37: 18:55215345-55215345
GRCh38: 18:57548113-57548113
36 FECH NM_000140.4(FECH):c.*3719C>T SNV Uncertain significance 327355 rs886053973 GRCh37: 18:55214225-55214225
GRCh38: 18:57546993-57546993
37 FECH NM_000140.4(FECH):c.*4237A>G SNV Uncertain significance 327346 rs886053969 GRCh37: 18:55213707-55213707
GRCh38: 18:57546475-57546475
38 FECH NM_000140.4(FECH):c.*2441G>T SNV Uncertain significance 327383 rs886053982 GRCh37: 18:55215503-55215503
GRCh38: 18:57548271-57548271
39 FECH NM_000140.4(FECH):c.*2060C>T SNV Uncertain significance 327386 rs886053984 GRCh37: 18:55215884-55215884
GRCh38: 18:57548652-57548652
40 FECH NM_000140.4(FECH):c.*4363G>A SNV Uncertain significance 327343 rs375097125 GRCh37: 18:55213581-55213581
GRCh38: 18:57546349-57546349
41 FECH NM_000140.4(FECH):c.*4077C>T SNV Uncertain significance 327348 rs548648988 GRCh37: 18:55213867-55213867
GRCh38: 18:57546635-57546635
42 FECH NM_000140.4(FECH):c.*1453T>C SNV Uncertain significance 327394 rs886053986 GRCh37: 18:55216491-55216491
GRCh38: 18:57549259-57549259
43 FECH NM_000140.4(FECH):c.*2782G>T SNV Uncertain significance 327368 rs886053975 GRCh37: 18:55215162-55215162
GRCh38: 18:57547930-57547930
44 FECH NM_000140.4(FECH):c.*1176G>A SNV Uncertain significance 327400 rs886053989 GRCh37: 18:55216768-55216768
GRCh38: 18:57549536-57549536
45 FECH NM_000140.4(FECH):c.*1170T>A SNV Uncertain significance 327403 rs886053991 GRCh37: 18:55216774-55216774
GRCh38: 18:57549542-57549542
46 FECH NM_000140.4(FECH):c.*136G>C SNV Uncertain significance 327420 rs886053995 GRCh37: 18:55217808-55217808
GRCh38: 18:57550576-57550576
47 FECH NM_000140.4(FECH):c.*55C>T SNV Uncertain significance 327423 rs886053997 GRCh37: 18:55217889-55217889
GRCh38: 18:57550657-57550657
48 FECH NM_000140.4(FECH):c.139A>G (p.Thr47Ala) SNV Uncertain significance 327436 rs144831860 GRCh37: 18:55247360-55247360
GRCh38: 18:57580128-57580128
49 FECH NM_000140.4(FECH):c.*2451_*2452insG Insertion Uncertain significance 327377 rs1555678907 GRCh37: 18:55215492-55215493
GRCh38: 18:57548260-57548261
50 FECH NM_000140.4(FECH):c.*2436_*2440GTTTT[2] Microsatellite Uncertain significance 327380 rs886053981 GRCh37: 18:55215494-55215498
GRCh38: 18:57548262-57548266

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

72 (show all 23)
# Symbol AA change Variation ID SNP ID
1 FECH p.Gly55Cys VAR_002383 rs3848519
2 FECH p.Ile186Thr VAR_002384
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 rs135696529
9 FECH p.Ser151Pro VAR_030556
10 FECH p.Glu178Lys VAR_030557 rs116056503
11 FECH p.Leu182Arg VAR_030558
12 FECH p.Tyr191His VAR_030559 rs105501994
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 rs132442147
23 FECH p.Ser264Leu VAR_054629

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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 65
Show member pathways
 13.65 UROS UROD SLC25A37 SLC25A28 PPOX HMOX1
2
Biosynthesis of cofactors 36
Show member pathways
 11.83 UROS UROD PPOX HMBS FECH CPOX
3
Porphyrin and chlorophyll metabolism 36
Show member pathways
 11.52 UROS UROD PPOX HMOX1 HMBS FECH
4
Iron metabolism in placenta 1
10.4 IREB2 ACO1
5
Mitochondrial iron-sulfur cluster biogenesis 65
10.21 SLC25A37 SLC25A28
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 mitochondrial inner membrane GO:0005743 9.61 SLC25A38 SLC25A37 SLC25A28 PPOX FECH CLPX
2 mitochondrial matrix GO:0005759 9.55 GLRX5 FECH CLPX ALAS2 ALAS1
3 mitochondrion GO:0005739 9.53 UROS SLC25A38 SLC25A37 SLC25A28 PPOX IREB2

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.9 PPOX HMOX1 FECH ALAD
2 response to hypoxia GO:0001666 9.83 HMOX1 ALAS2 ALAS1 ALAD
3 cellular iron ion homeostasis GO:0006879 9.8 IREB2 HMOX1 ALAS2 ACO1 ABCB7 ABCB6
4 porphyrin-containing compound biosynthetic process GO:0006779 9.76 UROS UROD PPOX HMBS FECH CPOX
5 iron ion homeostasis GO:0055072 9.71 SLC25A37 SLC25A28 IREB2 HMOX1
6 tetrapyrrole biosynthetic process GO:0033014 9.65 UROS HMBS ALAS2 ALAS1 ALAD
7 response to lead ion GO:0010288 9.62 FECH ALAD
8 erythrocyte development GO:0048821 9.61 ALAS2 ALAS1
9 response to metal ion GO:0010038 9.61 FECH ALAD
10 protoporphyrinogen IX biosynthetic process GO:0006782 9.61 UROS UROD PPOX IREB2 HMBS CPOX
11 intestinal absorption GO:0050892 9.59 IREB2 ACO1
12 response to arsenic-containing substance GO:0046685 9.58 FECH ALAD
13 erythrocyte homeostasis GO:0034101 9.58 IREB2 HMOX1
14 cellular response to arsenic-containing substance GO:0071243 9.57 UROS HMOX1
15 heme transport GO:0015886 9.56 ABCB7 ABCB6
16 response to methylmercury GO:0051597 9.55 FECH ALAD
17 hemoglobin biosynthetic process GO:0042541 9.54 ALAS2 ALAS1
18 response to platinum ion GO:0070541 9.54 UROS FECH ALAD
19 porphyrin-containing compound metabolic process GO:0006778 9.51 ALAS2 ALAS1
20 citrate metabolic process GO:0006101 9.49 IREB2 ACO1
21 heme metabolic process GO:0042168 9.48 UROD HMOX1
22 protoporphyrinogen IX metabolic process GO:0046501 9.46 PPOX FECH
23 iron import into the mitochondrion GO:0048250 9.43 SLC25A37 SLC25A28
24 heme biosynthetic process GO:0006783 9.32 UROS UROD SLC25A38 PPOX HMBS FECH

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

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.73 CLPX ABCB7 ABCB6 ABCB10
2 ATPase activity, coupled to transmembrane movement of substances GO:0042626 9.54 ABCB7 ABCB6 ABCB10
3 2 iron, 2 sulfur cluster binding GO:0051537 9.46 GLRX5 FECH
4 iron ion transmembrane transporter activity GO:0005381 9.4 SLC25A37 SLC25A28
5 aconitate hydratase activity GO:0003994 9.32 IREB2 ACO1
6 iron-responsive element binding GO:0030350 9.26 IREB2 ACO1
7 iron-sulfur cluster binding GO:0051536 9.26 IREB2 GLRX5 FECH ACO1
8 5-aminolevulinate synthase activity GO:0003870 9.16 ALAS2 ALAS1
9 lyase activity GO:0016829 9.02 UROS UROD FECH ALAD ACO1
Sources

Sources for Protoporphyria, Erythropoietic, 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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