MCID: PRT118
MIFTS: 58

Protoporphyria, Erythropoietic

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

Aliases & Classifications for Protoporphyria, Erythropoietic

MalaCards integrated aliases for Protoporphyria, Erythropoietic:

Name: Protoporphyria, Erythropoietic 57 76 44
Erythropoietic Protoporphyria 12 76 53 75 29 6 15 40 73
Epp 57 12 76 53 59 75
Ferrochelatase Deficiency 57 53 75 73
Heme Synthetase Deficiency 57 53 75
Protoporphyria, Erythropoietic, Autosomal Recessive 57 13
Erythrohepatic Protoporphyria 57 53
Protoporphyria 12 53
Erythropoietic Protoporphyria, Autosomal Recessive 24
Autosomal Erythropoietic Protoporphyria 59
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:
Onset and clinical course childhood onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Epp appears to be 100% penetrant when there are biallelic fech loss-of-function variants or compound heterozygosity for a fech loss-of-function variant and a variant that causes low expression of the other fech allele...

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

Summaries for Protoporphyria, Erythropoietic

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, also known as erythropoietic protoporphyria, is related to porphyria variegata and porphyria, and has symptoms including edema, pruritus and burning sensation. An important gene associated with Protoporphyria, Erythropoietic is FECH (Ferrochelatase), and among its related pathways/superpathways are Metabolism and Porphyrin and chlorophyll metabolism. The drugs Colestipol and alpha-MSH have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and bone, and related phenotypes are eczema and edema

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 Erythropoietic protoporphyria: A form of porphyria. 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.

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

Wikipedia : 76 Erythropoietic protoporphyria (EPP) is a form of porphyria, which varies in severity and can be very... more...

GeneReviews: NBK100826

Related Diseases for Protoporphyria, Erythropoietic

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



Diseases related to Protoporphyria, Erythropoietic

Symptoms & Phenotypes for Protoporphyria, Erythropoietic

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:

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

UMLS symptoms related to Protoporphyria, Erythropoietic:


edema, pruritus, burning sensation

MGI Mouse Phenotypes related to Protoporphyria, Erythropoietic:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 ALAS2 FECH HMBS HMOX1 PCBD1 PPOX
2 renal/urinary system MP:0005367 9.02 HMBS HMOX1 PCBD1 PPOX UROS

Drugs & Therapeutics for Protoporphyria, Erythropoietic

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

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

Interventional clinical trials:

(show all 14)
# 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 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 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 Not Applicable cysteine hydrochloride
9 Canthaxanthin Retinopathy: A Long-term Observation Completed NCT01128062
10 Oral Iron for Erythropoietic Protoporphyrias Recruiting NCT02979249 Not Applicable Oral Iron
11 Longitudinal Study of the Porphyrias Recruiting NCT01561157
12 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Active, not recruiting NCT01688895
13 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC)) Active, not recruiting NCT01880983
14 Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic Protoporphyria Terminated NCT01550705 Not Applicable Isoniazid

Search NIH Clinical Center for Protoporphyria, Erythropoietic

Cochrane evidence based reviews: protoporphyria, erythropoietic

Genetic Tests for Protoporphyria, Erythropoietic

Genetic tests related to Protoporphyria, Erythropoietic:

# Genetic test Affiliating Genes
1 Erythropoietic Protoporphyria 29 FECH

Anatomical Context for Protoporphyria, Erythropoietic

MalaCards organs/tissues related to Protoporphyria, Erythropoietic:

41
Liver, Skin, Bone, Bone Marrow, Spleen, Testes, Eye

Publications for Protoporphyria, Erythropoietic

Articles related to Protoporphyria, Erythropoietic:

(show top 50) (show all 511)
# Title Authors Year
1
[Clinicopathologic features of three cases of erythropoietic protoporphyria with liver involvement]. ( 29050073 )
2017
2
Solar urticaria developing in patients with Erythropoietic Protoporphyria: a clue to the pathogenesis of Solar Urticaria? ( 28796891 )
2017
3
Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity. ( 28185024 )
2017
4
Basal Cell Carcinoma in Erythropoietic Protoporphyria: All About Ultraviolet Light? ( 28903600 )
2017
5
Osteoporosis in patients with erythropoietic protoporphyria. ( 28815553 )
2017
6
Blastic plasmacytoid dendritic cell neoplasm following acquired erythropoietic protoporphyria. ( 28966462 )
2017
7
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. ( 28614581 )
2017
8
[Erythropoietic protoporphyria : Clinical manifestations, diagnosis and new therapeutic possibilities]. ( 26669872 )
2016
9
Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene. ( 26280465 )
2016
10
Case of late-onset erythropoietic protoporphyria with myelodysplastic syndrome who has homozygous IVS3-48C polymorphism in the ferrochelatase gene. ( 28026050 )
2016
11
An I+-MSH Analog in Erythropoietic Protoporphyria. ( 25785940 )
2015
12
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
13
Allogeneic haematopoietic stem cell transplantation for erythropoietic protoporphyria: a cautionary note. ( 25488614 )
2015
14
Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites. ( 25414439 )
2015
15
Extreme photosensitivity in a patient with erythropoietic protoporphyria. ( 25585186 )
2015
16
Afamelanotide (CUV1647) in dermal phototoxicity of erythropoietic protoporphyria. ( 25470471 )
2015
17
Narrowband ultraviolet B phototherapy in erythropoietic protoporphyria: case series. ( 24641168 )
2014
18
Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria. ( 25494545 )
2014
19
Therapeutic plasma exchange in a patient with erythropoietic protoporphyria status post orthothopic liver transplantation as a bridge to hematopoietic stem cell transplantation. ( 24890923 )
2014
20
Erythropoietic protoporphyria-like scars and xanthomas in a child with Alagille syndrome. ( 23488621 )
2014
21
Hepatology: Portal vein cavernoma imitating cholangiocarcinoma in a patient with erythropoietic protoporphyria. ( 25318384 )
2014
22
Treatment of erythropoietic protoporphyria with the oral sorbent colestipol: a proof-of-concept clinical trial. ( 24438965 )
2014
23
Evaluation of the Immunogenicity of the Synthetic I+-Melanocyte-Stimulating Hormone (I+-MSH) Analogue Afamelanotide ([Nle-D-Phe(7)]-I+-MSH, ScenesseAr) in Erythropoietic Protoporphyria Patients by ELISA Detecting Both Anti-Afamelanotide and Anti-I+-MSH Antibodies. ( 25402764 )
2014
24
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria. ( 24680888 )
2014
25
A case of extensive hyaline deposition in facial skin caused by erythropoietic protoporphyria. ( 24701996 )
2014
26
Erythropoietic protoporphyria in a boy. ( 25392202 )
2014
27
Maternal and fetal outcome in Swedish women with erythropoietic protoporphyria. ( 23738640 )
2013
28
Orthodontic treatment considerations for a patient with erythropoietic protoporphyria. ( 24286913 )
2013
29
New mutation identified in two sisters with adult-onset erythropoietic protoporphyria. ( 23600449 )
2013
30
Development of acute phototoxic reaction during surgery in a patient with erythropoietic protoporphyria. ( 23777502 )
2013
31
A case of late onset erythropoietic protoporphyria associated with myelodysplastic syndrome treated by the combination of beta carotene and azacitidine. ( 23475052 )
2013
32
Clinical and biochemical improvement following low-dose intravenous iron therapy in a patient with erythropoietic protoporphyria. ( 23895304 )
2013
33
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. ( 23364466 )
2013
34
Bone mineral density and vitamin D levels in erythropoietic protoporphyria. ( 23536284 )
2013
35
Functional associations of genetic variants involved in the clinical manifestation of erythropoietic protoporphyria in the Argentinean population. ( 22591014 )
2013
36
Leukocytoclastic vasculitis masking chronic vascular changes in previously undiagnosed erythropoietic protoporphyria. ( 24102632 )
2013
37
A bioassay for the detection of neutralizing antibodies against the I+-melanocyte stimulating hormone analog afamelanotide in patients with erythropoietic protoporphyria. ( 23277150 )
2013
38
Genetic study in a Singaporean patient with erythropoietic protoporphyria. ( 22971195 )
2012
39
Oxidative stress, Nrf2 and keratin up-regulation associate with Mallory-Denk body formation in mouse erythropoietic protoporphyria. ( 22334478 )
2012
40
Zinc sulphate: a new concept of treatment of erythropoietic protoporphyria. ( 22049991 )
2012
41
Erythropoietic protoporphyria: spectrum of three cases. ( 22971305 )
2012
42
Photosensitivity and acute liver insufficiency in late-onset erythropoietic protoporphyria with a chromosome 18q abnormality. ( 22807898 )
2012
43
Oral cholestyramine is not an effective treatment for uncomplicated erythropoietic protoporphyria. ( 23158617 )
2012
44
Erythropoietic protoporphyria and early onset of cholestasis. ( 23692792 )
2012
45
Phototolerance induced by narrow-band UVB phototherapy in severe erythropoietic protoporphyria. ( 22971192 )
2012
46
Liver transplantation for acute-on-chronic liver failure from erythropoietic protoporphyria. ( 23323258 )
2012
47
An explorative study of non-invasive ultra-weak photon emission and the anti-oxidative influence of oral zinc sulphate in light-sensitive patients with erythropoietic protoporphyria. ( 22092997 )
2012
48
Plasma and red cell exchange transfusions for erythropoietic protoporphyria: a case report and review of the literature. ( 22997063 )
2012
49
Protoporphyrin retention in hepatocytes and Kupffer cells prevents sclerosing cholangitis in erythropoietic protoporphyria mouse model. ( 21762662 )
2011
50
Neonatal bone marrow transplantation prevents liver disease in a murine model of erythropoietic protoporphyria. ( 21145811 )
2011

Variations for Protoporphyria, Erythropoietic

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

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
9 FECH p.Ser151Pro VAR_030556
10 FECH p.Glu178Lys VAR_030557
11 FECH p.Leu182Arg VAR_030558
12 FECH p.Tyr191His VAR_030559 rs1055019947Erythropoietic
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
23 FECH p.Ser264Leu VAR_054629

ClinVar genetic disease variations for Protoporphyria, Erythropoietic:

6
(show top 50) (show all 274)
# Gene Variation Type Significance SNP ID Assembly Location
1 FECH NM_001012515.2(FECH): c.1268T> C (p.Phe423Ser) single nucleotide variant Pathogenic rs118204039 GRCh37 Chromosome 18, 55217966: 55217966
2 FECH NM_001012515.2(FECH): c.1268T> C (p.Phe423Ser) single nucleotide variant Pathogenic rs118204039 GRCh38 Chromosome 18, 57550734: 57550734
3 FECH NM_000140.3(FECH): c.1077+1G> A single nucleotide variant Pathogenic rs786205245 GRCh38 Chromosome 18, 57554259: 57554259
4 FECH NM_000140.3(FECH): c.1077+1G> A single nucleotide variant Pathogenic rs786205245 GRCh37 Chromosome 18, 55221491: 55221491
5 FECH NM_000140.3(FECH): c.1137+3A> G single nucleotide variant Pathogenic rs202147607 GRCh37 Chromosome 18, 55218544: 55218544
6 FECH NM_000140.3(FECH): c.1137+3A> G single nucleotide variant Pathogenic rs202147607 GRCh38 Chromosome 18, 57551312: 57551312
7 FECH NM_001012515.2(FECH): c.1103T> G (p.Val368Gly) single nucleotide variant Pathogenic rs118204040 GRCh37 Chromosome 18, 55218599: 55218599
8 FECH NM_001012515.2(FECH): c.1103T> G (p.Val368Gly) single nucleotide variant Pathogenic rs118204040 GRCh38 Chromosome 18, 57551367: 57551367
9 FECH NM_000140.3(FECH): c.314+2T> G single nucleotide variant Pathogenic rs149067146 GRCh37 Chromosome 18, 55240476: 55240476
10 FECH NM_000140.3(FECH): c.314+2T> G single nucleotide variant Pathogenic rs149067146 GRCh38 Chromosome 18, 57573244: 57573244
11 FECH NM_000140.3(FECH): c.195_314del single nucleotide variant Pathogenic rs786205246 GRCh37 Chromosome 18, 55240472: 55240472
12 FECH NM_000140.3(FECH): c.195_314del single nucleotide variant Pathogenic rs786205246 GRCh38 Chromosome 18, 57573240: 57573240
13 FECH NM_000140.3(FECH): c.1078_1137del single nucleotide variant Pathogenic rs879255507 GRCh38 Chromosome 18, 57551317: 57551317
14 FECH NM_000140.3(FECH): c.1078_1137del single nucleotide variant Pathogenic rs879255507 GRCh37 Chromosome 18, 55218549: 55218549
15 FECH NM_001012515.2(FECH): c.1154delA (p.Lys385Argfs) deletion Pathogenic rs764466739 GRCh37 Chromosome 18, 55218548: 55218548
16 FECH NM_001012515.2(FECH): c.1154delA (p.Lys385Argfs) deletion Pathogenic rs764466739 GRCh38 Chromosome 18, 57551316: 57551316
17 FECH NM_000140.3(FECH): c.68_194del single nucleotide variant Pathogenic rs786205247 GRCh37 Chromosome 18, 55247294: 55247294
18 FECH NM_000140.3(FECH): c.68_194del single nucleotide variant Pathogenic rs786205247 GRCh38 Chromosome 18, 57580062: 57580062
19 FECH NM_000140.3(FECH): c.580_584delTACAG (p.Tyr194Leufs) deletion Pathogenic rs786205248 GRCh37 Chromosome 18, 55233693: 55233697
20 FECH NM_000140.3(FECH): c.580_584delTACAG (p.Tyr194Leufs) deletion Pathogenic rs786205248 GRCh38 Chromosome 18, 57566461: 57566465
21 FECH NM_001012515.2(FECH): c.571G> A (p.Ala191Thr) single nucleotide variant Pathogenic rs397514476 GRCh37 Chromosome 18, 55233724: 55233724
22 FECH NM_001012515.2(FECH): c.571G> A (p.Ala191Thr) single nucleotide variant Pathogenic rs397514476 GRCh38 Chromosome 18, 57566492: 57566492
23 FECH NM_000140.3(FECH): c.921A> G (p.Pro307=) single nucleotide variant Benign rs536560 GRCh37 Chromosome 18, 55221648: 55221648
24 FECH NM_000140.3(FECH): c.921A> G (p.Pro307=) single nucleotide variant Benign rs536560 GRCh38 Chromosome 18, 57554416: 57554416
25 FECH NM_000140.3(FECH): c.798C> G (p.Pro266=) single nucleotide variant Benign rs536765 GRCh38 Chromosome 18, 57559151: 57559151
26 FECH NM_000140.3(FECH): c.798C> G (p.Pro266=) single nucleotide variant Benign rs536765 GRCh37 Chromosome 18, 55226383: 55226383
27 FECH NM_000140.3(FECH): c.*5143C> T single nucleotide variant Likely benign rs139987131 GRCh38 Chromosome 18, 57545569: 57545569
28 FECH NM_000140.3(FECH): c.*5143C> T single nucleotide variant Likely benign rs139987131 GRCh37 Chromosome 18, 55212801: 55212801
29 FECH NM_000140.3(FECH): c.*5140G> A single nucleotide variant Likely benign rs55987829 GRCh38 Chromosome 18, 57545572: 57545572
30 FECH NM_000140.3(FECH): c.*5140G> A single nucleotide variant Likely benign rs55987829 GRCh37 Chromosome 18, 55212804: 55212804
31 FECH NM_000140.3(FECH): c.*4891dupT duplication Benign rs146687823 GRCh38 Chromosome 18, 57545821: 57545821
32 FECH NM_000140.3(FECH): c.*4891dupT duplication Benign rs146687823 GRCh37 Chromosome 18, 55213053: 55213053
33 FECH NM_000140.3(FECH): c.*4829C> T single nucleotide variant Likely benign rs565989254 GRCh38 Chromosome 18, 57545883: 57545883
34 FECH NM_000140.3(FECH): c.*4829C> T single nucleotide variant Likely benign rs565989254 GRCh37 Chromosome 18, 55213115: 55213115
35 FECH NM_000140.3(FECH): c.*4597T> C single nucleotide variant Likely benign rs147684323 GRCh37 Chromosome 18, 55213347: 55213347
36 FECH NM_000140.3(FECH): c.*4597T> C single nucleotide variant Likely benign rs147684323 GRCh38 Chromosome 18, 57546115: 57546115
37 FECH NM_000140.3(FECH): c.*4528C> T single nucleotide variant Uncertain significance rs564734119 GRCh37 Chromosome 18, 55213416: 55213416
38 FECH NM_000140.3(FECH): c.*4528C> T single nucleotide variant Uncertain significance rs564734119 GRCh38 Chromosome 18, 57546184: 57546184
39 FECH NM_000140.3(FECH): c.*4458C> T single nucleotide variant Likely benign rs113000324 GRCh37 Chromosome 18, 55213486: 55213486
40 FECH NM_000140.3(FECH): c.*4458C> T single nucleotide variant Likely benign rs113000324 GRCh38 Chromosome 18, 57546254: 57546254
41 FECH NM_000140.3(FECH): c.*4056C> T single nucleotide variant Likely benign rs181920623 GRCh38 Chromosome 18, 57546656: 57546656
42 FECH NM_000140.3(FECH): c.*4056C> T single nucleotide variant Likely benign rs181920623 GRCh37 Chromosome 18, 55213888: 55213888
43 FECH NM_000140.3(FECH): c.*3804G> A single nucleotide variant Likely benign rs190604320 GRCh38 Chromosome 18, 57546908: 57546908
44 FECH NM_000140.3(FECH): c.*3804G> A single nucleotide variant Likely benign rs190604320 GRCh37 Chromosome 18, 55214140: 55214140
45 FECH NM_000140.3(FECH): c.*3788A> G single nucleotide variant Uncertain significance rs886053971 GRCh38 Chromosome 18, 57546924: 57546924
46 FECH NM_000140.3(FECH): c.*3788A> G single nucleotide variant Uncertain significance rs886053971 GRCh37 Chromosome 18, 55214156: 55214156
47 FECH NM_000140.3(FECH): c.*3567G> A single nucleotide variant Likely benign rs556538397 GRCh38 Chromosome 18, 57547145: 57547145
48 FECH NM_000140.3(FECH): c.*3567G> A single nucleotide variant Likely benign rs556538397 GRCh37 Chromosome 18, 55214377: 55214377
49 FECH NM_000140.3(FECH): c.*2825A> G single nucleotide variant Benign rs8090261 GRCh38 Chromosome 18, 57547887: 57547887
50 FECH NM_000140.3(FECH): c.*2825A> G single nucleotide variant Benign rs8090261 GRCh37 Chromosome 18, 55215119: 55215119

Expression for Protoporphyria, Erythropoietic

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

Pathways for Protoporphyria, Erythropoietic

GO Terms for Protoporphyria, Erythropoietic

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.35 ALAS2 CPOX FECH PPOX UROS
2 mitochondrial intermembrane space GO:0005758 9.16 CPOX PPOX
3 mitochondrial inner membrane GO:0005743 8.92 ALAS2 CPOX FECH PPOX

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.86 CPOX HMOX1 PCBD1 PPOX
2 response to drug GO:0042493 9.74 ALAD FECH PPOX
3 response to hypoxia GO:0001666 9.72 ALAD ALAS2 HMOX1
4 heme biosynthetic process GO:0006783 9.7 ALAD ALAS2 CPOX FECH HMBS PPOX
5 response to lead ion GO:0010288 9.61 ALAD CPOX FECH
6 cellular iron ion homeostasis GO:0006879 9.58 ALAS2 HMOX1
7 response to arsenic-containing substance GO:0046685 9.58 ALAD CPOX FECH
8 tetrapyrrole biosynthetic process GO:0033014 9.56 ALAD ALAS2 HMBS UROS
9 response to metal ion GO:0010038 9.54 ALAD FECH
10 response to methylmercury GO:0051597 9.54 ALAD CPOX FECH
11 response to iron ion GO:0010039 9.52 ALAD CPOX
12 response to inorganic substance GO:0010035 9.51 ALAD CPOX
13 response to platinum ion GO:0070541 9.5 ALAD FECH UROS
14 cellular response to arsenic-containing substance GO:0071243 9.49 HMOX1 UROS
15 response to insecticide GO:0017085 9.48 CPOX FECH
16 protoporphyrinogen IX metabolic process GO:0046501 9.46 FECH PPOX
17 protoporphyrinogen IX biosynthetic process GO:0006782 9.43 ALAD ALAS2 CPOX HMBS PPOX UROS
18 porphyrin-containing compound biosynthetic process GO:0006779 9.1 ALAD CPOX FECH HMBS PPOX UROS

Molecular functions related to Protoporphyria, Erythropoietic 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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