EPP1
MCID: PRT132
MIFTS: 60

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 57 75
Erythropoietic Protoporphyria 12 76 53 75 29 6 15 40
Epp 57 12 76 53 59 75
Protoporphyria, Erythropoietic 57 76 44
Erythrohepatic Protoporphyria 57 53 75
Heme Synthetase Deficiency 57 53 75
Ferrochelatase Deficiency 57 53 75
Protoporphyria 12 53
Epp1 57 75
Autosomal Erythropoietic Protoporphyria 59
Protoporphyria, Erythropoietic; Epp 57
Protoporphyria Erythropoietic 55
Ferrochelatase 13

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
protoporphyria, erythropoietic, 1:
Onset and clinical course childhood onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 177000
Disease Ontology 12 DOID:13270
ICD10 33 E80.0
MeSH 44 D046351
NCIt 50 C84698
SNOMED-CT 68 51022005
Orphanet 59 ORPHA79278
ICD10 via Orphanet 34 E80.0
MESH via Orphanet 45 D046351
UMLS via Orphanet 74 C0162568
UMLS 73 C0162568

Summaries for Protoporphyria, Erythropoietic, 1

NIH Rare Diseases : 53 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 porphyria and x-linked protoporphyria, and has symptoms including edema, pruritus and burning sensation. An important gene associated with Protoporphyria, Erythropoietic, 1 is FECH (Ferrochelatase), and among its related pathways/superpathways are Metabolism and Porphyrin and chlorophyll metabolism. Affiliated tissues include liver, skin and bone, and related phenotypes are decreased liver function and edema

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)

UniProtKB/Swiss-Prot : 75 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 : 76 Erythropoietic protoporphyria (EPP) is a form of porphyria, which varies in severity and can be very... 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 80)
# Related Disease Score Top Affiliating Genes
1 porphyria 31.8 UROS PPOX HMBS FECH CPOX ALAS2
2 x-linked protoporphyria 30.4 FECH ALAS2
3 porphyria cutanea tarda 29.9 UROS PPOX HMBS FECH CPOX ALAD
4 porphyria, congenital erythropoietic 29.5 UROS HMBS FECH CPOX ALAD
5 porphyria variegata 29.4 UROS PPOX HMBS FECH CPOX ALAD
6 acute porphyria 28.8 UROS PPOX PCBD1 HMBS FECH CPOX
7 epilepsy, partial, with pericentral spikes 11.6
8 erythropoietic protoporphyria, autosomal recessive 11.4
9 protoporphyria, erythropoietic, x-linked 11.1
10 protoporphyria, erythropoietic, 2 11.1
11 infantile liver failure syndrome 1 10.7
12 cholestasis 10.4
13 myelodysplastic syndrome 10.4
14 lipoid proteinosis of urbach and wiethe 10.3
15 polyneuropathy 10.3
16 urticaria 10.3
17 solar urticaria 10.3
18 neuroblastoma 10.3
19 basal cell carcinoma 1 10.2
20 hematopoietic stem cell transplantation 10.2
21 liver cirrhosis 10.2
22 basal cell carcinoma 10.2
23 lupus erythematosus 10.2
24 hemosiderosis 10.1
25 alagille syndrome 1 10.1
26 systemic lupus erythematosus 10.1
27 osteoporosis 10.1
28 schizophrenia 10.1
29 cystinuria 10.1
30 alport syndrome, x-linked 10.1
31 body mass index quantitative trait locus 1 10.1
32 aplastic anemia 10.1
33 beta-thalassemia 10.1
34 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
35 cholangiocarcinoma 10.1
36 dilated cardiomyopathy 10.1
37 hepatitis 10.1
38 leukemia 10.1
39 thalassemia 10.1
40 choledocholithiasis 10.1
41 sclerosing cholangitis 10.1
42 angioedema 10.1
43 ventricular septal defect 10.1
44 dermatitis 10.1
45 contact dermatitis 10.1
46 acute pancreatitis 10.1
47 purpura 10.1
48 histiocytosis 10.1
49 porokeratosis 10.1
50 pancreatitis 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Protoporphyria, Erythropoietic, 1:

59 32 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 decreased liver function 59 32 occasional (7.5%) Occasional (29-5%) HP:0001410
2 edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000969
3 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
4 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
5 cholelithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001081
6 microcytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001935
7 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
8 eczema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000964
9 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
10 abnormality of the heme biosynthetic pathway 59 32 hallmark (90%) Very frequent (99-80%) HP:0010472
11 hypertriglyceridemia 32 HP:0002155
12 hemolytic anemia 32 HP:0001878
13 hepatic failure 32 HP:0001399

UMLS symptoms related to Protoporphyria, Erythropoietic, 1:


edema, pruritus, burning sensation

MGI Mouse Phenotypes related to Protoporphyria, Erythropoietic, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.61 ALAS2 CPOX FECH HMBS HMOX1 PCBD1
2 renal/urinary system MP:0005367 9.1 HMBS HMOX1 PCBD1 PPOX TRPV1 UROS

Drugs & Therapeutics for Protoporphyria, Erythropoietic, 1

Search Clinical Trials , 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 29 FECH

Anatomical Context for Protoporphyria, Erythropoietic, 1

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

41
Liver, Skin, Bone, Bone Marrow, Spleen, Kidney, Prostate

Publications for Protoporphyria, Erythropoietic, 1

Articles related to Protoporphyria, Erythropoietic, 1:

(show top 50) (show all 553)
# Title Authors Year
1
Erythropoietic protoporphyria in an adult with sequential liver and hematopoietic stem cell transplantation: A case report. ( 29116687 )
2018
2
Late-onset Erythropoietic Protoporphyria Associated with Myelodysplastic Syndrome Treated with Azacitidine. ( 29057424 )
2018
3
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations. ( 30454868 )
2018
4
Erythropoietic protoporphyria and solar urticaria. ( 29683481 )
2018
5
Prevention of photosensitivity with action spectrum adjusted protection for erythropoietic protoporphyria. ( 29266358 )
2018
6
Hair cortisol is elevated in patients with erythropoietic protoporphyria and correlates with body mass index and quality of life. ( 29341104 )
2018
7
Erythropoietic Protoporphyria: Initial Diagnosis With Cholestatic Liver Disease. ( 29610169 )
2018
8
Delayed photosensitivity in a child with erythropoietic protoporphyria : a case report. ( 29854403 )
2018
9
Liver metabolomics in a mouse model of erythropoietic protoporphyria. ( 29906468 )
2018
10
Digital PCR (dPCR) analysis reveals that the homozygous c.315-48T>C variant in the FECH gene might cause erythropoietic protoporphyria (EPP). ( 29941360 )
2018
11
Diagnostic Delay in Erythropoietic Protoporphyria. ( 30041937 )
2018
12
The role of ClpX in erythropoietic protoporphyria. ( 30057992 )
2018
13
Erythropoietic Protoporphyria-related Hepatopathy Successfully Treated with Phlebotomy. ( 30175727 )
2018
14
Erythropoietic protoporphyria: A rare cause of painful hands and feet. ( 30288822 )
2018
15
[Clinicopathologic features of three cases of erythropoietic protoporphyria with liver involvement]. ( 29050073 )
2017
16
Solar urticaria developing in patients with Erythropoietic Protoporphyria: a clue to the pathogenesis of Solar Urticaria? ( 28796891 )
2017
17
Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity. ( 28185024 )
2017
18
Basal Cell Carcinoma in Erythropoietic Protoporphyria: All About Ultraviolet Light? ( 28903600 )
2017
19
Osteoporosis in patients with erythropoietic protoporphyria. ( 28815553 )
2017
20
Blastic plasmacytoid dendritic cell neoplasm following acquired erythropoietic protoporphyria. ( 28966462 )
2017
21
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. ( 28614581 )
2017
22
Case Report of Patient With Erythropoietic Protoporphyria and Basal Cell Carcinoma Diagnoses. ( 27837157 )
2017
23
Patients with erythropoietic protoporphyria have reduced erythrocyte protoporphyrin IX from early in pregnancy. ( 27943252 )
2017
24
Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria. ( 28054335 )
2017
25
Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer. ( 28075030 )
2017
26
Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice. ( 28093505 )
2017
27
The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria. ( 28443300 )
2017
28
Cimetidine/lactulose therapy ameliorates erythropoietic protoporphyria-related liver injury. ( 28676994 )
2017
29
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria. ( 28874591 )
2017
30
[Erythropoietic protoporphyria : Clinical manifestations, diagnosis and new therapeutic possibilities]. ( 26669872 )
2016
31
Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene. ( 26280465 )
2016
32
Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene. ( 28026050 )
2016
33
Reply to: "Impaired expression of multidrug resistance-associated protein 2 and liver damage in erythropoietic protoporphyria". ( 26173575 )
2016
34
Role of ABCG2 in liver injury associated with erythropoietic protoporphyria. ( 26403458 )
2016
35
Afamelanotide: A Review in Erythropoietic Protoporphyria. ( 26979527 )
2016
36
Influence of meteorological data on sun tolerance in patients with erythropoietic protoporphyria in France. ( 27030101 )
2016
37
A case of erythropoietic protoporphyria. ( 27365882 )
2016
38
Novel Treatment Using Cimetidine for Erythropoietic Protoporphyria in Children. ( 27410690 )
2016
39
Protoporphyrin IX in the skin measured noninvasively predicts photosensitivity in patients with erythropoietic protoporphyria. ( 27603594 )
2016
40
Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review. ( 27704751 )
2016
41
A promising new strategy for monitoring erythropoietic protoporphyria therapy. ( 27996121 )
2016
42
Advances in the management of erythropoietic protoporphyria - role of afamelanotide. ( 28003770 )
2016
43
An I+-MSH Analog in Erythropoietic Protoporphyria. ( 25785940 )
2015
44
A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease. ( 26789144 )
2015
45
Allogeneic haematopoietic stem cell transplantation for erythropoietic protoporphyria: a cautionary note. ( 25488614 )
2015
46
Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites. ( 25414439 )
2015
47
Extreme photosensitivity in a patient with erythropoietic protoporphyria. ( 25585186 )
2015
48
Afamelanotide (CUV1647) in dermal phototoxicity of erythropoietic protoporphyria. ( 25470471 )
2015
49
Erythropoietic protoporphyria in a boy. ( 25392202 )
2015
50
Impaired expression of ATP-binding cassette transporter G2 and liver damage in erythropoietic protoporphyria. ( 25921023 )
2015

Variations for Protoporphyria, Erythropoietic, 1

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

75 (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
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 288)
# Gene Variation Type Significance SNP ID Assembly Location
1 FECH NM_000140.3(FECH): c.163G> T (p.Gly55Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs3848519 GRCh37 Chromosome 18, 55247336: 55247336
2 FECH NM_000140.3(FECH): c.163G> T (p.Gly55Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs3848519 GRCh38 Chromosome 18, 57580104: 57580104
3 FECH NM_000140.3(FECH): c.801G> A (p.Met267Ile) single nucleotide variant Likely benign rs118204037 GRCh37 Chromosome 18, 55226380: 55226380
4 FECH NM_000140.3(FECH): c.801G> A (p.Met267Ile) single nucleotide variant Likely benign rs118204037 GRCh38 Chromosome 18, 57559148: 57559148
5 FECH NM_001012515.2(FECH): c.68-23C> T single nucleotide variant Conflicting interpretations of pathogenicity rs2269219 GRCh37 Chromosome 18, 55247454: 55247454
6 FECH NM_001012515.2(FECH): c.68-23C> T single nucleotide variant Conflicting interpretations of pathogenicity rs2269219 GRCh38 Chromosome 18, 57580222: 57580222
7 FECH NM_001012515.2(FECH): c.1268T> C (p.Phe423Ser) single nucleotide variant Pathogenic rs118204039 GRCh37 Chromosome 18, 55217966: 55217966
8 FECH NM_001012515.2(FECH): c.1268T> C (p.Phe423Ser) single nucleotide variant Pathogenic rs118204039 GRCh38 Chromosome 18, 57550734: 57550734
9 FECH NM_000140.3(FECH): c.1077+1G> A single nucleotide variant Pathogenic rs786205245 GRCh38 Chromosome 18, 57554259: 57554259
10 FECH NM_000140.3(FECH): c.1077+1G> A single nucleotide variant Pathogenic rs786205245 GRCh37 Chromosome 18, 55221491: 55221491
11 FECH NM_000140.3(FECH): c.1137+3A> G single nucleotide variant Pathogenic rs202147607 GRCh37 Chromosome 18, 55218544: 55218544
12 FECH NM_000140.3(FECH): c.1137+3A> G single nucleotide variant Pathogenic rs202147607 GRCh38 Chromosome 18, 57551312: 57551312
13 FECH NM_001012515.2(FECH): c.1103T> G (p.Val368Gly) single nucleotide variant Pathogenic rs118204040 GRCh37 Chromosome 18, 55218599: 55218599
14 FECH NM_001012515.2(FECH): c.1103T> G (p.Val368Gly) single nucleotide variant Pathogenic rs118204040 GRCh38 Chromosome 18, 57551367: 57551367
15 FECH NM_000140.3(FECH): c.314+2T> G single nucleotide variant Pathogenic rs149067146 GRCh37 Chromosome 18, 55240476: 55240476
16 FECH NM_000140.3(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_001012515.2(FECH): c.1242T> A (p.Asn414Lys) single nucleotide variant no interpretation for the single variant rs267606803 GRCh37 Chromosome 18, 55217992: 55217992
28 FECH NM_001012515.2(FECH): c.1242T> A (p.Asn414Lys) 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 Conflicting interpretations of pathogenicity rs2272783 GRCh37 Chromosome 18, 55238820: 55238820
30 FECH NM_000140.3(FECH): c.315-48T> C single nucleotide variant Conflicting interpretations of pathogenicity rs2272783 GRCh38 Chromosome 18, 57571588: 57571588
31 FECH NM_001012515.2(FECH): c.1249T> G (p.Cys417Gly) single nucleotide variant no interpretation for the single variant rs146899669 GRCh37 Chromosome 18, 55217985: 55217985
32 FECH NM_001012515.2(FECH): c.1249T> G (p.Cys417Gly) single nucleotide variant no interpretation for the single variant rs146899669 GRCh38 Chromosome 18, 57550753: 57550753
33 FECH NM_001012515.2(FECH): c.1243C> T (p.Pro415Ser) single nucleotide variant no interpretation for the single variant rs267606804 GRCh37 Chromosome 18, 55217991: 55217991
34 FECH NM_001012515.2(FECH): c.1243C> T (p.Pro415Ser) single nucleotide variant no interpretation for the single variant rs267606804 GRCh38 Chromosome 18, 57550759: 57550759
35 FECH NM_001012515.2(FECH): c.571G> A (p.Ala191Thr) single nucleotide variant Pathogenic rs397514476 GRCh37 Chromosome 18, 55233724: 55233724
36 FECH NM_001012515.2(FECH): c.571G> A (p.Ala191Thr) 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_000140.3(FECH): c.*5143C> T single nucleotide variant Likely benign rs139987131 GRCh38 Chromosome 18, 57545569: 57545569
42 FECH NM_000140.3(FECH): c.*5143C> T single nucleotide variant Likely benign rs139987131 GRCh37 Chromosome 18, 55212801: 55212801
43 FECH NM_000140.3(FECH): c.*5140G> A single nucleotide variant Likely benign rs55987829 GRCh38 Chromosome 18, 57545572: 57545572
44 FECH NM_000140.3(FECH): c.*5140G> A single nucleotide variant Likely benign rs55987829 GRCh37 Chromosome 18, 55212804: 55212804
45 FECH NM_000140.3(FECH): c.*4891dupT duplication Benign rs146687823 GRCh38 Chromosome 18, 57545821: 57545821
46 FECH NM_000140.3(FECH): c.*4891dupT duplication Benign rs146687823 GRCh37 Chromosome 18, 55213053: 55213053
47 FECH NM_000140.3(FECH): c.*4829C> T single nucleotide variant Likely benign rs565989254 GRCh38 Chromosome 18, 57545883: 57545883
48 FECH NM_000140.3(FECH): c.*4829C> T single nucleotide variant Likely benign rs565989254 GRCh37 Chromosome 18, 55213115: 55213115
49 FECH NM_000140.3(FECH): c.*4597T> C single nucleotide variant Likely benign rs147684323 GRCh37 Chromosome 18, 55213347: 55213347
50 FECH NM_000140.3(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 cytosol GO:0005829 9.76 ALAD CLPX CPOX HMBS HMOX1 PCBD1
2 mitochondrial inner membrane GO:0005743 9.26 ALAS2 CLPX FECH PPOX
3 mitochondrion GO:0005739 9.1 ALAS2 CLPX CPOX FECH PPOX UROS

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.83 CPOX HMOX1 PCBD1 PPOX
2 response to drug GO:0042493 9.72 ALAD FECH PPOX
3 heme biosynthetic process GO:0006783 9.7 ALAD ALAS2 CPOX FECH HMBS PPOX
4 response to hypoxia GO:0001666 9.69 ALAD ALAS2 HMOX1
5 cellular response to heat GO:0034605 9.56 HMOX1 TRPV1
6 tetrapyrrole biosynthetic process GO:0033014 9.56 ALAD ALAS2 HMBS UROS
7 cellular iron ion homeostasis GO:0006879 9.54 ALAS2 HMOX1
8 response to platinum ion GO:0070541 9.5 ALAD FECH UROS
9 response to lead ion GO:0010288 9.49 ALAD FECH
10 response to metal ion GO:0010038 9.48 ALAD FECH
11 response to arsenic-containing substance GO:0046685 9.46 ALAD FECH
12 cellular response to arsenic-containing substance GO:0071243 9.43 HMOX1 UROS
13 porphyrin-containing compound biosynthetic process GO:0006779 9.43 ALAD CPOX FECH HMBS PPOX UROS
14 response to methylmercury GO:0051597 9.4 ALAD FECH
15 protoporphyrinogen IX metabolic process GO:0046501 9.37 FECH PPOX
16 protoporphyrinogen IX biosynthetic process GO:0006782 9.1 ALAD ALAS2 CPOX HMBS PPOX UROS

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

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 8.92 ALAD FECH PCBD1 UROS

Sources for Protoporphyria, Erythropoietic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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