EPP1
MCID: PRT132
MIFTS: 58

Protoporphyria, Erythropoietic, 1 (EPP1)

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Protoporphyria, Erythropoietic, 1

MalaCards integrated aliases for Protoporphyria, Erythropoietic, 1:

Name: Protoporphyria, Erythropoietic, 1 58 76
Erythropoietic Protoporphyria 12 77 54 76 30 6 15 41
Epp 58 12 77 54 60 76
Protoporphyria, Erythropoietic 58 77 45
Erythrohepatic Protoporphyria 58 54 76
Heme Synthetase Deficiency 58 54 76
Ferrochelatase Deficiency 58 54 76
Protoporphyria 12 54
Epp1 58 76
Autosomal Erythropoietic Protoporphyria 60
Protoporphyria, Erythropoietic; Epp 58
Protoporphyria Erythropoietic 56
Ferrochelatase 13

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
protoporphyria, erythropoietic, 1:
Onset and clinical course childhood onset
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:13270
OMIM 58 177000
MeSH 45 D046351
NCIt 51 C84698
SNOMED-CT 69 51022005
ICD10 34 E80.0
MESH via Orphanet 46 D046351
ICD10 via Orphanet 35 E80.0
UMLS via Orphanet 75 C0162568
Orphanet 60 ORPHA79278
UMLS 74 C0162568

Summaries for Protoporphyria, Erythropoietic, 1

NIH Rare Diseases : 54 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 (mutations) 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.  Treatment includes avoiding sun and UV light exposure, vitamin D supplements, creams for tanning, and using protective clothing. A medication known as Afamelanotide (Scenesse®), a synthetic α-melanocyte stimulating hormone (a melanocyte is a  skin cell that produces melanin, a  skin-darkening pigment) analog was approved for treatment of EPP by the European Medicines Agency in 2014 and is awaiting approval in United States by the FDA. This medication increases pain-free sun exposure and has improved quality of life in those with EPP. Liver complications may be treated with cholestyramine and other porphyrin absorbents , plasmapheresis,  a procedure where the liquid part of the blood, or plasma, is separated from the blood cells, and intravenous heme are sometimes beneficial. Liver transplantation may be required. Another type of porphyria, known as X-linked protoporphyria, is caused by a variation in  the ALAS2 gene and have similar symptoms to erythropoietic protoporphyria when males are affected by EPP.

MalaCards based summary : Protoporphyria, Erythropoietic, 1, also known as erythropoietic protoporphyria, is related to x-linked protoporphyria and porphyria, congenital erythropoietic. An important gene associated with Protoporphyria, Erythropoietic, 1 is FECH (Ferrochelatase), and among its related pathways/superpathways are Metabolism and Porphyrin and chlorophyll metabolism. The drugs Colestipol and Afamelanotide have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and liver, and related phenotypes are pruritus 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 : 58 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)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Erythropoietic protoporphyria is a form of porphyria, which varies in severity and can be very painful. ... more...

Related Diseases for Protoporphyria, Erythropoietic, 1

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 104)
# Related Disease Score Top Affiliating Genes
1 x-linked protoporphyria 30.6 ALAS2 FECH
2 porphyria, congenital erythropoietic 29.7 ALAD CPOX FECH UROS
3 microcytic anemia 29.6 ALAS2 IREB2
4 porphyria variegata 29.6 ALAD CPOX FECH PPOX UROS
5 porphyria cutanea tarda 29.4 ALAD ALAS1 CPOX FECH PPOX UROS
6 sideroblastic anemia 29.0 ALAS1 ALAS2 SLC25A38
7 porphyria 29.0 ALAD ALAS1 ALAS2 CPOX FECH PPOX
8 acute porphyria 28.6 ALAD ALAS1 ALAS2 CPOX FECH PPOX
9 erythropoietic protoporphyria, autosomal recessive 11.4
10 epilepsy, partial, with pericentral spikes 11.1
11 protoporphyria, erythropoietic, x-linked 11.1
12 protoporphyria, erythropoietic, 2 11.1
13 cholestasis 10.4
14 lipoid proteinosis of urbach and wiethe 10.4
15 myelodysplastic syndrome 10.4
16 polyneuropathy 10.3
17 urticaria 10.3
18 solar urticaria 10.3
19 basal cell carcinoma 1 10.2
20 infantile liver failure syndrome 1 10.2
21 hematopoietic stem cell transplantation 10.2
22 liver cirrhosis 10.2
23 basal cell carcinoma 10.2
24 lupus erythematosus 10.2
25 hemosiderosis 10.1
26 colorectal cancer 10.1
27 alagille syndrome 1 10.1
28 systemic lupus erythematosus 10.1
29 osteoporosis 10.1
30 schizophrenia 10.1
31 cystinuria 10.1
32 langerhans cell histiocytosis 10.1
33 body mass index quantitative trait locus 1 10.1
34 aplastic anemia 10.1
35 bone mineral density quantitative trait locus 8 10.1
36 bone mineral density quantitative trait locus 15 10.1
37 beta-thalassemia 10.1
38 meconium ileus 10.1
39 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
40 cholangiocarcinoma 10.1
41 alport syndrome 10.1
42 dilated cardiomyopathy 10.1
43 hepatitis 10.1
44 leukemia 10.1
45 thalassemia 10.1
46 choledocholithiasis 10.1
47 sclerosing cholangitis 10.1
48 ventricular septal defect 10.1
49 dermatitis 10.1
50 contact dermatitis 10.1

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



Diseases related to Protoporphyria, Erythropoietic, 1

Symptoms & Phenotypes for Protoporphyria, Erythropoietic, 1

Human phenotypes related to Protoporphyria, Erythropoietic, 1:

60 33 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000989
2 erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0010783
3 cutaneous photosensitivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000992
4 abnormal circulating porphyrin concentration 33 hallmark (90%) HP:0010472
5 decreased liver function 60 33 occasional (7.5%) Occasional (29-5%) HP:0001410
6 edema 60 33 occasional (7.5%) Occasional (29-5%) HP:0000969
7 cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001394
8 cholelithiasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001081
9 microcytic anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001935
10 eczema 60 33 occasional (7.5%) Occasional (29-5%) HP:0000964
11 hypertriglyceridemia 33 HP:0002155
12 hemolytic anemia 33 HP:0001878
13 hepatic failure 33 HP:0001399
14 abnormality of the heme biosynthetic pathway 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
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:
edema
erythema
itching
light-sensitive dermatitis
burning
more
Abdomen Biliary Tract:
gallstones

Clinical features from OMIM:

177000

MGI Mouse Phenotypes related to Protoporphyria, Erythropoietic, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.23 ALAS1 ALAS2 CPOX FECH HMOX1 IREB2

Drugs & Therapeutics for Protoporphyria, Erythropoietic, 1

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

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Colestipol Approved Phase 2, Phase 3 26658-42-4
2
Afamelanotide Experimental, Investigational Phase 3,Phase 2 75921-69-6
3 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
4 Hormone Antagonists Phase 3,Phase 2
5 Hormones Phase 3,Phase 2
6 Dermatologic Agents Phase 3,Phase 2,Not Applicable
7 alpha-MSH Phase 3,Phase 2 581-05-5
8 cysteine Phase 3,Not Applicable
9 Lipid Regulating Agents Phase 2, Phase 3,Not Applicable
10 Antimetabolites Phase 2, Phase 3,Not Applicable
11 Hypolipidemic Agents Phase 2, Phase 3,Not Applicable
12
Iron Approved, Experimental Not Applicable 7439-89-6, 15438-31-0 27284 23925
13
Aminolevulinic acid Approved ,Not Applicable 106-60-5 137
14
Isoniazid Approved, Investigational Not Applicable 54-85-3 3767
15
Protoporphyrin IX Experimental Not Applicable 553-12-8
16 Protective Agents
17
Canthaxanthin 514-78-3 5281227
18 Antioxidants
19 Nutrients Not Applicable
20 Iron Supplement Not Applicable
21 Trace Elements Not Applicable
22 Micronutrients Not Applicable
23 Anti-Infective Agents Not Applicable
24 Anti-Bacterial Agents Not Applicable
25 Photosensitizing Agents Not Applicable
26 Antitubercular Agents Not Applicable

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Phase III Confirmatory Study in Erythropoietic Protoporphyria Unknown status NCT01605136 Phase 3 Afamelanotide;Placebo
2 Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT00979745 Phase 3 Afamelanotide;Placebo
3 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
4 Sorbent Therapy of the Cutaneous Porphyrias Completed NCT01422915 Phase 2, Phase 3 Colestipol
5 Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP) Completed NCT01097044 Phase 2 Afamelanotide;Placebo
6 Study to Evaluate Efficacy, Safety, and Tolerability of MT‑7117 in Subjects With Erythropoietic Protoporphyria Active, not recruiting NCT03520036 Phase 2 MT-7117 low dose;MT-7117 high dose;Placebo
7 Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria Unknown status NCT00206869 Not Applicable
8 Light Exposure Patterns and Symptoms Among Patients With Erythropoietic Protoporphyria Completed NCT03682731
9 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 Not Applicable cysteine hydrochloride
10 Canthaxanthin Retinopathy: A Long-term Observation Completed NCT01128062
11 Oral Iron for Erythropoietic Protoporphyrias Recruiting NCT02979249 Not Applicable Oral Iron
12 Longitudinal Study of the Porphyrias Recruiting NCT01561157
13 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Active, not recruiting NCT01688895
14 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)) Active, not recruiting NCT01880983
15 Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria Terminated NCT01550705 Not Applicable Isoniazid

Search NIH Clinical Center for Protoporphyria, Erythropoietic, 1

Cochrane evidence based reviews: protoporphyria, erythropoietic

Genetic Tests for Protoporphyria, Erythropoietic, 1

Genetic tests related to Protoporphyria, Erythropoietic, 1:

# Genetic test Affiliating Genes
1 Erythropoietic Protoporphyria 30 FECH

Anatomical Context for Protoporphyria, Erythropoietic, 1

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

42
Skin, Bone, Liver, Bone Marrow, Spleen, Brain, Kidney

Publications for Protoporphyria, Erythropoietic, 1

Articles related to Protoporphyria, Erythropoietic, 1:

(show top 50) (show all 564)
# Title Authors Year
1
Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management. ( 30704898 )
2019
2
Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria. ( 31076252 )
2019
3
Erythropoietic protoporphyria: pitfalls and proposed solutions for patient communication about the disease, a survey of parents and adult patients. ( 30978424 )
2019
4
Erythropoietic Protoporphyria in a Japanese Population. ( 30938825 )
2019
5
Warfarin ineffective as symptomatic therapy for erythropoietic protoporphyria. ( 30916386 )
2019
6
Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report. ( 30809087 )
2019
7
An Unusual Case of Erythropoietic Protoporphyria Mimicking Lipoid Proteinosis. ( 30745642 )
2019
8
Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria. ( 30712775 )
2019
9
Psychosocial issues in erythropoietic protoporphyria - the perspective of parents, children, and young adults: A qualitative study. ( 30711301 )
2019
10
Erythropoietic protoporphyria: A rare cause of painful hands and feet. ( 30288822 )
2019
11
Erythropoietic protoporphyria in an adult with sequential liver and hematopoietic stem cell transplantation: A case report. ( 29116687 )
2018
12
Erythropoietic Protoporphyria: Initial Diagnosis With Cholestatic Liver Disease. ( 29610169 )
2018
13
Late-onset Erythropoietic Protoporphyria Associated with Myelodysplastic Syndrome Treated with Azacitidine. ( 29057424 )
2018
14
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations. ( 30454868 )
2018
15
Erythropoietic protoporphyria and solar urticaria. ( 29683481 )
2018
16
Erythropoietic Protoporphyria-related Hepatopathy Successfully Treated with Phlebotomy. ( 30175727 )
2018
17
The role of ClpX in erythropoietic protoporphyria. ( 30057992 )
2018
18
Diagnostic Delay in Erythropoietic Protoporphyria. ( 30041937 )
2018
19
Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP). ( 29941360 )
2018
20
Liver metabolomics in a mouse model of erythropoietic protoporphyria. ( 29906468 )
2018
21
Delayed photosensitivity in a child with erythropoietic protoporphyria : a case report. ( 29854403 )
2018
22
Hair cortisol is elevated in patients with erythropoietic protoporphyria and correlates with body mass index and quality of life. ( 29341104 )
2018
23
Prevention of photosensitivity with action spectrum adjusted protection for erythropoietic protoporphyria. ( 29266358 )
2018
24
Solar urticaria developing in patients with erythropoietic protoporphyria: a clue to the pathogenesis of solar urticaria? ( 28796891 )
2018
25
Basal Cell Carcinoma in Erythropoietic Protoporphyria: All About Ultraviolet Light? ( 28903600 )
2017
26
Case Report of Patient With Erythropoietic Protoporphyria and Basal Cell Carcinoma Diagnoses. ( 27837157 )
2017
27
Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene. ( 28026050 )
2017
28
Osteoporosis in patients with erythropoietic protoporphyria. ( 28815553 )
2017
29
Blastic plasmacytoid dendritic cell neoplasm following acquired erythropoietic protoporphyria. ( 28966462 )
2017
30
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. ( 28614581 )
2017
31
Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer. ( 28075030 )
2017
32
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. ( 28874591 )
2017
33
Cimetidine/lactulose therapy ameliorates erythropoietic protoporphyria-related liver injury. ( 28676994 )
2017
34
The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria. ( 28443300 )
2017
35
Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity. ( 28185024 )
2017
36
Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice. ( 28093505 )
2017
37
Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria. ( 28054335 )
2017
38
Patients with erythropoietic protoporphyria have reduced erythrocyte protoporphyrin IX from early in pregnancy. ( 27943252 )
2017
39
[Clinicopathologic features of three cases of erythropoietic protoporphyria with liver involvement]. ( 29050073 )
2017
40
Advances in the management of erythropoietic protoporphyria - role of afamelanotide. ( 28003770 )
2016
41
A promising new strategy for monitoring erythropoietic protoporphyria therapy. ( 27996121 )
2016
42
Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review. ( 27704751 )
2016
43
Protoporphyrin IX in the skin measured noninvasively predicts photosensitivity in patients with erythropoietic protoporphyria. ( 27603594 )
2016
44
Novel Treatment Using Cimetidine for Erythropoietic Protoporphyria in Children. ( 27410690 )
2016
45
A case of erythropoietic protoporphyria. ( 27365882 )
2016
46
Influence of meteorological data on sun tolerance in patients with erythropoietic protoporphyria in France. ( 27030101 )
2016
47
Afamelanotide: A Review in Erythropoietic Protoporphyria. ( 26979527 )
2016
48
Role of ABCG2 in liver injury associated with erythropoietic protoporphyria. ( 26403458 )
2016
49
Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene. ( 26280465 )
2016
50
Reply to: "Impaired expression of multidrug resistance-associated protein 2 and liver damage in erythropoietic protoporphyria". ( 26173575 )
2016

Variations for Protoporphyria, Erythropoietic, 1

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

76 (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

ClinVar genetic disease variations for Protoporphyria, Erythropoietic, 1:

6 (show top 50) (show all 290)
# Gene Variation Type Significance SNP ID Assembly Location
1 FECH NM_000140.4(FECH): c.163G> T (p.Gly55Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs3848519 GRCh37 Chromosome 18, 55247336: 55247336
2 FECH NM_000140.4(FECH): c.163G> T (p.Gly55Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs3848519 GRCh38 Chromosome 18, 57580104: 57580104
3 FECH NM_000140.4(FECH): c.801G> A (p.Met267Ile) single nucleotide variant Likely benign rs118204037 GRCh37 Chromosome 18, 55226380: 55226380
4 FECH NM_000140.4(FECH): c.801G> A (p.Met267Ile) single nucleotide variant Likely benign rs118204037 GRCh38 Chromosome 18, 57559148: 57559148
5 FECH NM_001012515.3(FECH): c.68-23C> T single nucleotide variant Conflicting interpretations of pathogenicity rs2269219 GRCh37 Chromosome 18, 55247454: 55247454
6 FECH NM_001012515.3(FECH): c.68-23C> T single nucleotide variant Conflicting interpretations of pathogenicity rs2269219 GRCh38 Chromosome 18, 57580222: 57580222
7 FECH NM_000140.4(FECH): c.1250T> C (p.Phe417Ser) single nucleotide variant Pathogenic rs118204039 GRCh37 Chromosome 18, 55217966: 55217966
8 FECH NM_000140.4(FECH): c.1250T> C (p.Phe417Ser) single nucleotide variant Pathogenic rs118204039 GRCh38 Chromosome 18, 57550734: 57550734
9 FECH NM_000140.4(FECH): c.1077+1G> A single nucleotide variant Pathogenic rs786205245 GRCh38 Chromosome 18, 57554259: 57554259
10 FECH NM_000140.4(FECH): c.1077+1G> A single nucleotide variant Pathogenic rs786205245 GRCh37 Chromosome 18, 55221491: 55221491
11 FECH NM_000140.4(FECH): c.1137+3A> G single nucleotide variant Pathogenic rs202147607 GRCh37 Chromosome 18, 55218544: 55218544
12 FECH NM_000140.4(FECH): c.1137+3A> G single nucleotide variant Pathogenic rs202147607 GRCh38 Chromosome 18, 57551312: 57551312
13 FECH NM_000140.4(FECH): c.1085T> G (p.Val362Gly) single nucleotide variant Pathogenic rs118204040 GRCh37 Chromosome 18, 55218599: 55218599
14 FECH NM_000140.4(FECH): c.1085T> G (p.Val362Gly) single nucleotide variant Pathogenic rs118204040 GRCh38 Chromosome 18, 57551367: 57551367
15 FECH NM_000140.4(FECH): c.314+2T> G single nucleotide variant Pathogenic rs149067146 GRCh37 Chromosome 18, 55240476: 55240476
16 FECH NM_000140.4(FECH): c.314+2T> G single nucleotide variant Pathogenic rs149067146 GRCh38 Chromosome 18, 57573244: 57573244
17 FECH NM_000140.3(FECH): c.195_314del single nucleotide variant Pathogenic rs786205246 GRCh38 Chromosome 18, 57573240: 57573240
18 FECH NM_000140.3(FECH): c.195_314del single nucleotide variant Pathogenic rs786205246 GRCh37 Chromosome 18, 55240472: 55240472
19 FECH NM_000140.3(FECH): c.1078_1137del single nucleotide variant Pathogenic rs879255507 GRCh38 Chromosome 18, 57551317: 57551317
20 FECH NM_000140.3(FECH): c.1078_1137del single nucleotide variant Pathogenic rs879255507 GRCh37 Chromosome 18, 55218549: 55218549
21 FECH NM_001012515.2(FECH): c.1154delA (p.Lys385Argfs) deletion Pathogenic rs764466739 GRCh37 Chromosome 18, 55218548: 55218548
22 FECH NM_001012515.2(FECH): c.1154delA (p.Lys385Argfs) deletion Pathogenic rs764466739 GRCh38 Chromosome 18, 57551316: 57551316
23 FECH NM_000140.3(FECH): c.68_194del single nucleotide variant Pathogenic rs786205247 GRCh38 Chromosome 18, 57580062: 57580062
24 FECH NM_000140.3(FECH): c.68_194del single nucleotide variant Pathogenic rs786205247 GRCh37 Chromosome 18, 55247294: 55247294
25 FECH NM_000140.3(FECH): c.580_584delTACAG (p.Tyr194Leufs) deletion Pathogenic rs786205248 GRCh37 Chromosome 18, 55233693: 55233697
26 FECH NM_000140.3(FECH): c.580_584delTACAG (p.Tyr194Leufs) deletion Pathogenic rs786205248 GRCh38 Chromosome 18, 57566461: 57566465
27 FECH NM_000140.3(FECH): c.1224T> A (p.Asn408Lys) single nucleotide variant no interpretation for the single variant rs267606803 GRCh37 Chromosome 18, 55217992: 55217992
28 FECH NM_000140.3(FECH): c.1224T> A (p.Asn408Lys) single nucleotide variant no interpretation for the single variant rs267606803 GRCh38 Chromosome 18, 57550760: 57550760
29 FECH NM_000140.3(FECH): c.315-48T> C single nucleotide variant Pathogenic rs2272783 GRCh37 Chromosome 18, 55238820: 55238820
30 FECH NM_000140.3(FECH): c.315-48T> C single nucleotide variant Pathogenic rs2272783 GRCh38 Chromosome 18, 57571588: 57571588
31 FECH NM_000140.3(FECH): c.1231T> G (p.Cys411Gly) single nucleotide variant no interpretation for the single variant rs146899669 GRCh37 Chromosome 18, 55217985: 55217985
32 FECH NM_000140.3(FECH): c.1231T> G (p.Cys411Gly) single nucleotide variant no interpretation for the single variant rs146899669 GRCh38 Chromosome 18, 57550753: 57550753
33 FECH NM_000140.4(FECH): c.1225C> T (p.Pro409Ser) single nucleotide variant no interpretation for the single variant rs267606804 GRCh37 Chromosome 18, 55217991: 55217991
34 FECH NM_000140.4(FECH): c.1225C> T (p.Pro409Ser) single nucleotide variant no interpretation for the single variant rs267606804 GRCh38 Chromosome 18, 57550759: 57550759
35 FECH NM_000140.4(FECH): c.553G> A (p.Ala185Thr) single nucleotide variant Pathogenic rs397514476 GRCh37 Chromosome 18, 55233724: 55233724
36 FECH NM_000140.4(FECH): c.553G> A (p.Ala185Thr) single nucleotide variant Pathogenic rs397514476 GRCh38 Chromosome 18, 57566492: 57566492
37 FECH NM_000140.3(FECH): c.921A> G (p.Pro307=) single nucleotide variant Benign rs536560 GRCh37 Chromosome 18, 55221648: 55221648
38 FECH NM_000140.3(FECH): c.921A> G (p.Pro307=) single nucleotide variant Benign rs536560 GRCh38 Chromosome 18, 57554416: 57554416
39 FECH NM_000140.3(FECH): c.798C> G (p.Pro266=) single nucleotide variant Benign rs536765 GRCh38 Chromosome 18, 57559151: 57559151
40 FECH NM_000140.3(FECH): c.798C> G (p.Pro266=) single nucleotide variant Benign rs536765 GRCh37 Chromosome 18, 55226383: 55226383
41 FECH NM_000140.4(FECH): c.*5143C> T single nucleotide variant Likely benign rs139987131 GRCh38 Chromosome 18, 57545569: 57545569
42 FECH NM_000140.4(FECH): c.*5143C> T single nucleotide variant Likely benign rs139987131 GRCh37 Chromosome 18, 55212801: 55212801
43 FECH NM_000140.4(FECH): c.*5140G> A single nucleotide variant Likely benign rs55987829 GRCh38 Chromosome 18, 57545572: 57545572
44 FECH NM_000140.4(FECH): c.*5140G> A single nucleotide variant Likely benign rs55987829 GRCh37 Chromosome 18, 55212804: 55212804
45 FECH NM_000140.4(FECH): c.*4891dup duplication Benign rs146687823 GRCh38 Chromosome 18, 57545821: 57545821
46 FECH NM_000140.4(FECH): c.*4891dup duplication Benign rs146687823 GRCh37 Chromosome 18, 55213053: 55213053
47 FECH NM_000140.4(FECH): c.*4829C> T single nucleotide variant Likely benign rs565989254 GRCh38 Chromosome 18, 57545883: 57545883
48 FECH NM_000140.4(FECH): c.*4829C> T single nucleotide variant Likely benign rs565989254 GRCh37 Chromosome 18, 55213115: 55213115
49 FECH NM_000140.4(FECH): c.*4597T> C single nucleotide variant Likely benign rs147684323 GRCh37 Chromosome 18, 55213347: 55213347
50 FECH NM_000140.4(FECH): c.*4597T> C single nucleotide variant Likely benign rs147684323 GRCh38 Chromosome 18, 57546115: 57546115

Expression for Protoporphyria, Erythropoietic, 1

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

Pathways for Protoporphyria, Erythropoietic, 1

GO Terms for Protoporphyria, Erythropoietic, 1

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.46 ALAS1 ALAS2 CLPX FECH
2 mitochondrial inner membrane GO:0005743 9.35 ALAS2 CLPX FECH PPOX SLC25A38
3 mitochondrion GO:0005739 9.23 ALAS1 ALAS2 CLPX CPOX FECH IREB2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.77 ALAD FECH PPOX
2 response to hypoxia GO:0001666 9.72 ALAD ALAS2 HMOX1
3 cellular iron ion homeostasis GO:0006879 9.61 ALAS2 HMOX1 IREB2
4 erythrocyte differentiation GO:0030218 9.58 ALAS2 SLC25A38
5 response to activity GO:0014823 9.58 ALAD IREB2
6 biosynthetic process GO:0009058 9.57 ALAS1 ALAS2
7 response to zinc ion GO:0010043 9.56 ALAD IREB2
8 tetrapyrrole biosynthetic process GO:0033014 9.56 ALAD ALAS1 ALAS2 UROS
9 heme biosynthetic process GO:0006783 9.56 ALAD ALAS1 ALAS2 CPOX FECH PPOX
10 porphyrin-containing compound biosynthetic process GO:0006779 9.55 ALAD CPOX FECH PPOX UROS
11 response to lead ion GO:0010288 9.54 ALAD FECH
12 response to metal ion GO:0010038 9.52 ALAD FECH
13 response to arsenic-containing substance GO:0046685 9.51 ALAD FECH
14 response to platinum ion GO:0070541 9.5 ALAD FECH UROS
15 erythrocyte homeostasis GO:0034101 9.49 HMOX1 IREB2
16 cellular response to arsenic-containing substance GO:0071243 9.48 HMOX1 UROS
17 response to methylmercury GO:0051597 9.46 ALAD FECH
18 porphyrin-containing compound metabolic process GO:0006778 9.4 ALAS1 ALAS2
19 protoporphyrinogen IX metabolic process GO:0046501 9.37 FECH PPOX
20 protoporphyrinogen IX biosynthetic process GO:0006782 9.17 ALAD ALAS1 ALAS2 CPOX IREB2 PPOX

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

# Name GO ID Score Top Affiliating Genes
1 iron-sulfur cluster binding GO:0051536 9.26 FECH IREB2
2 pyridoxal phosphate binding GO:0030170 9.16 ALAS1 ALAS2
3 lyase activity GO:0016829 9.13 ALAD FECH UROS
4 5-aminolevulinate synthase activity GO:0003870 8.62 ALAS1 ALAS2

Sources for Protoporphyria, Erythropoietic, 1

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18 ExPASy
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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