EPP1
MCID: PRT132
MIFTS: 59

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 74
Erythropoietic Protoporphyria 12 75 53 74 29 6 15 40
Epp 57 12 75 53 59 74
Protoporphyria, Erythropoietic 57 75 44
Erythrohepatic Protoporphyria 57 53 74
Heme Synthetase Deficiency 57 53 74
Ferrochelatase Deficiency 57 53 74
Protoporphyria 12 53
Epp1 57 74
Autosomal Erythropoietic Protoporphyria 59
Protoporphyria, Erythropoietic; Epp 57
Protoporphyria Erythropoietic 55

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:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course childhood onset


Classifications:



External Ids:

Disease Ontology 12 DOID:13270
MeSH 44 D046351
NCIt 50 C84698
SNOMED-CT 68 51022005
ICD10 33 E80.0
MESH via Orphanet 45 D046351
ICD10 via Orphanet 34 E80.0
UMLS via Orphanet 73 C0162568
Orphanet 59 ORPHA79278
UMLS 72 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 (ScenesseR), a synthetic ?-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 cutaneous porphyria and x-linked protoporphyria. 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 liver, skin and bone, and related phenotypes are pruritus and cutaneous photosensitivity

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 : 74 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 : 75 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 153)
# Related Disease Score Top Affiliating Genes
1 cutaneous porphyria 31.4 UROS FECH CPOX ALAS2
2 x-linked protoporphyria 30.2 FECH ALAS2
3 microcytic anemia 29.5 IREB2 ALAS2
4 porphyria, congenital erythropoietic 29.2 UROS HMBS FECH CPOX ALAD
5 porphyria, acute intermittent 28.6 UROS PPOX HMBS FECH CPOX ALAS1
6 porphyria cutanea tarda 28.6 UROS PPOX HMBS FECH CPOX ALAS1
7 sideroblastic anemia 28.4 SLC25A38 ALAS2 ALAS1
8 anemia, sideroblastic, 1 28.4 UROS FECH ALAS2 ALAS1 ALAD
9 porphyria 27.9 UROS PPOX HMBS FECH CPOX ALAS2
10 coproporphyria, hereditary 27.8 UROS PPOX HMBS FECH CPOX ALAS2
11 acute porphyria 27.4 UROS PPOX HMBS FECH CPOX ALAS2
12 epilepsy, partial, with pericentral spikes 11.3
13 protoporphyria, erythropoietic, x-linked 11.3
14 protoporphyria, erythropoietic, 2 11.3
15 lipoid proteinosis of urbach and wiethe 10.5
16 myelodysplastic syndrome 10.5
17 cholelithiasis 10.5
18 gallbladder disease 1 10.5
19 polyneuropathy 10.5
20 infantile liver failure syndrome 1 10.4
21 acute liver failure 10.4
22 variegate porphyria 10.4
23 varicose veins 10.4
24 exanthem 10.4
25 esophageal varix 10.4
26 liver disease 10.4
27 neuropathy 10.4
28 hematopoietic stem cell transplantation 10.4
29 portal hypertension 10.3
30 primary biliary cirrhosis 10.3
31 bilirubin metabolic disorder 10.3
32 lupus erythematosus 10.3
33 splenomegaly 10.3
34 autosomal recessive disease 10.3
35 cholestasis 10.3
36 sclerosing cholangitis 10.3
37 urticaria 10.3
38 thrombocytopenia 10.3
39 hypogonadism 10.3
40 basal cell carcinoma 10.3
41 contact dermatitis 10.3
42 skin disease 10.3
43 liver cirrhosis 10.3
44 axonal neuropathy 10.3
45 hypogonadotropism 10.3
46 hyperthyroidism 10.3
47 cholangitis 10.3
48 hydroa vacciniforme 10.3
49 chronic actinic dermatitis 10.3
50 rare photodermatosis 10.3

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:

59 32 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pruritus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000989
2 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
3 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
4 abnormal circulating porphyrin concentration 32 hallmark (90%) HP:0010472
5 decreased liver function 59 32 occasional (7.5%) Occasional (29-5%) HP:0001410
6 edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000969
7 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
8 cholelithiasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001081
9 microcytic anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001935
10 eczema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000964
11 hypertriglyceridemia 32 HP:0002155
12 hemolytic anemia 32 HP:0001878
13 hepatic failure 32 HP:0001399
14 abnormality of the heme biosynthetic pathway 59 Very frequent (99-80%)

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
burning
light-sensitive dermatitis
more
Abdomen Biliary Tract:
gallstones

Clinical features from OMIM:

177000

MGI Mouse Phenotypes related to Protoporphyria, Erythropoietic, 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.61 ALAS1 ALAS2 CPOX FECH HMBS HMOX1
2 renal/urinary system MP:0005367 9.02 HMBS HMOX1 IREB2 PPOX UROS

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 75921-69-6
3 cysteine Phase 3
4 alpha-MSH Phase 3 581-05-5
5 Hormones Phase 3
6 Hormone Antagonists Phase 3
7 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3
8
Iron Approved, Experimental 15438-31-0, 7439-89-6 23925 27284
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 Nutrients
14 Micronutrients
15 Trace Elements
16 Antioxidants
17 Protective Agents
18
Canthaxanthin 514-78-3 5281227
19 Dermatologic Agents
20 Lipid Regulating Agents
21 Hypolipidemic Agents
22 Antimetabolites
23 Anti-Infective Agents
24 Anti-Bacterial Agents
25 Photosensitizing Agents
26 Antitubercular Agents

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 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) Unknown status NCT01605136 Phase 3 Afamelanotide;Placebo
2 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
3 A Phase III, Multicentre, Randomised, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Subcutanenous Bioresorbable CUV1647 Implants in Patients With Erythropoietic Protoporphyria (EPP) Completed NCT04053270 Phase 3 Afamelanotide;Placebo
4 Sorbent Therapy of the Cutaneous Porphyrias Completed NCT01422915 Phase 2, Phase 3 Colestipol
5 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
6 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
7 A Phase II, Multicenter, Randomized, Double-Blind, Placebo-Controlled 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
8 Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic Protoporphyria Unknown status NCT00206869
9 Light Exposure Patterns and Symptoms Among Patients With Erythropoietic Protoporphyria Completed NCT03682731
10 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 cysteine hydrochloride
11 Effect of Oral Iron Therapy on Erythrocyte Protoporphyrin Levels in the Erythropoietic Protoporphyrias Completed NCT02979249 Oral Iron
12 Canthaxanthin Retinopathy: A Long-term Observation Completed NCT01128062
13 Longitudinal Study of the Porphyrias Recruiting NCT01561157
14 7202 Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC) Active, not recruiting NCT01880983
15 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Active, not recruiting NCT01688895
16 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

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, Testes, Eye

Publications for Protoporphyria, Erythropoietic, 1

Articles related to Protoporphyria, Erythropoietic, 1:

(show top 50) (show all 899)
# Title Authors PMID Year
1
Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease. 9 38 8 71
17875872 2007
2
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. 9 38 8 71
16385445 2006
3
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. 9 38 8 71
11753383 2002
4
Recessive inheritance of erythropoietic protoporphyria with liver failure. 9 38 8 71
7910885 1994
5
Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. 9 38 8 71
1755842 1991
6
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 38 8 71
14669009 2004
7
Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation. 9 8 71
9649563 1998
8
Fatal liver failure in protoporphyria. Synergism between ethanol excess and the genetic defect. 8 71
3940245 1986
9
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. 9 38 8
18787536 2009
10
Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer. 9 38 8
15574461 2005
11
Novel mutations and phenotypic effect of the splice site modulator IVS3-48C in nine Swedish families with erythropoietic protoporphyria. 9 38 8
12601550 2003
12
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. 9 38 8
11039124 2000
13
Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. 9 38 71
10942404 2000
14
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria. 9 38 8
9585598 1998
15
Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele. 9 38 8
8571955 1996
16
Molecular defect in human erythropoietic protoporphyria with fatal liver failure. 9 38 71
8500787 1993
17
The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria. 9 38 71
1729699 1992
18
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyria. 38 8
24680888 2014
19
Erythropoietic Protoporphyria, Autosomal Recessive 38 71
23016163 2012
20
Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene. 38 8
21659066 2011
21
An alpha-melanocyte-stimulating hormone analogue in erythropoietic protoporphyria. 38 8
19144952 2009
22
Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. 38 8
16911284 2006
23
Four novel mutations in the ferrochelatase gene among erythropoietic protoporphyria patients. 38 8
8601739 1996
24
Erythropoietic protoporphyria presenting in an adult. 38 8
7562835 1995
25
Erythropoietic protoporphyria. 38 8
7857832 1994
26
A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing. 38 71
8481408 1993
27
A molecular defect in human protoporphyria. 9 71
1376018 1992
28
Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease. 38 8
1939658 1991
29
Erythropoietic protoporphyria: unusual skin and neurological problems after liver transplantation. 38 8
2019380 1991
30
Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families. 38 8
2384686 1990
31
Erythropoietic protoporphyria presenting in adulthood. 38 8
2774610 1989
32
The effect of liver transplantation in a 13-year-old boy with erythropoietic protoporphyria. 38 71
3047929 1988
33
Late-onset erythropoietic protoporphyria with unusual cutaneous features. 38 8
4037826 1985
34
Genetic aspects of erythropoietic protoporphyria. 38 8
6742776 1984
35
Erythropoietic protoporphyria terminating in liver failure. 38 8
7114870 1982
36
Erythropoietic protoporphyria. 38 8
350784 1978
37
The long term treatment with beta-carotene in erythropoietic protoporphyria: a controlled trial. 38 8
341955 1977
38
Erythropoietic protoporphyria: juvenile protoporphyrin hepatopathy cirrhosis and death. 38 8
911406 1977
39
Erythropoietic protoporphyria. 10 years experience. 38 8
1251847 1976
40
Hepatic disease in erythropoietic protoporphyria. 38 8
1138541 1975
41
Erythropoietic protoporphyria: evidence for multiple sites of excess protoporphyrin formation. 38 8
5101296 1971
42
Erythropoietic protoporphyria. 38 8
4109278 1971
43
Erythropoietic protoporphyria. A clinical and genetic study. 38 8
5536249 1970
44
Beta-carotene as a photoprotective agent in erythropoietic protoporphyria. 38 8
5442632 1970
45
Erythropoietic protoporphyria: a family study. 38 8
6019665 1967
46
Erythropoietic protoporphyria. Report of a family and a clinical review. 38 8
5835322 1965
47
ERYTHROPOIETIC PROTOPORPHYRIA. I. CLINICAL AND LABORABORY FEATURES IN SEVEN NEW CASES. 38 8
14338805 1965
48
ERYTHROPOIETIC PROTOPORPHYRIA. A NEW TYPE OF INBORN ERROR OF METABOLISM. 38 8
14072370 1963
49
Erythropoietic protoporphyria. A new porphyria syndrome with solar urticaria due to protoporphyrinaemia. 38 8
13765301 1961
50
Ferrochelatase structural mutant (Fechm1Pas) in the house mouse. 8
8325637 1993

Variations for Protoporphyria, Erythropoietic, 1

ClinVar genetic disease variations for Protoporphyria, Erythropoietic, 1:

6 (show top 50) (show all 147)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FECH NM_000140.4(FECH): c.1250T> C (p.Phe417Ser) single nucleotide variant Pathogenic rs118204039 18:55217966-55217966 18:57550734-57550734
2 FECH NM_000140.4(FECH): c.1077+1G> A single nucleotide variant Pathogenic rs786205245 18:55221491-55221491 18:57554259-57554259
3 FECH NM_000140.4(FECH): c.1137+3A> G single nucleotide variant Pathogenic rs202147607 18:55218544-55218544 18:57551312-57551312
4 FECH NM_000140.4(FECH): c.1085T> G (p.Val362Gly) single nucleotide variant Pathogenic rs118204040 18:55218599-55218599 18:57551367-57551367
5 FECH NM_000140.4(FECH): c.314+2T> G single nucleotide variant Pathogenic rs149067146 18:55240476-55240476 18:57573244-57573244
6 FECH NM_000140.3(FECH): c.195_314del single nucleotide variant Pathogenic rs786205246 18:55240472-55240472 18:57573240-57573240
7 FECH NM_000140.3(FECH): c.1078_1137del single nucleotide variant Pathogenic rs879255507 18:55218549-55218549 18:57551317-57551317
8 FECH NM_000140.4(FECH): c.1136del (p.Lys379fs) deletion Pathogenic rs764466739 18:55218548-55218548 18:57551316-57551316
9 FECH NM_000140.3(FECH): c.68_194del single nucleotide variant Pathogenic rs786205247 18:55247294-55247294 18:57580062-57580062
10 FECH NM_000140.4(FECH): c.580_584del (p.Tyr194fs) deletion Pathogenic rs786205248 18:55233693-55233697 18:57566461-57566465
11 FECH NM_000140.4(FECH): c.315-48T> C single nucleotide variant Pathogenic rs2272783 18:55238820-55238820 18:57571588-57571588
12 FECH NM_000140.4(FECH): c.553G> A (p.Ala185Thr) single nucleotide variant Pathogenic rs397514476 18:55233724-55233724 18:57566492-57566492
13 FECH NM_000140.4(FECH): c.820G> A (p.Asp274Asn) single nucleotide variant Pathogenic 18:55222169-55222169 18:57554937-57554937
14 FECH NM_000140.4(FECH): c.913G> T (p.Val305Phe) single nucleotide variant Likely pathogenic 18:55221656-55221656 18:57554424-57554424
15 FECH NM_000140.4(FECH): c.1001C> T (p.Pro334Leu) single nucleotide variant Likely pathogenic rs150146721 18:55221568-55221568 18:57554336-57554336
16 FECH NM_000140.4(FECH): c.854A> G (p.Gln285Arg) single nucleotide variant Likely pathogenic rs370708663 18:55222135-55222135 18:57554903-57554903
17 FECH NM_000140.4(FECH): c.68-23C> T single nucleotide variant Conflicting interpretations of pathogenicity rs2269219 18:55247454-55247454 18:57580222-57580222
18 FECH NM_000140.4(FECH): c.362A> G (p.Glu121Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs141813907 18:55238725-55238725 18:57571493-57571493
19 FECH NM_000140.4(FECH): c.139A> G (p.Thr47Ala) single nucleotide variant Uncertain significance rs144831860 18:55247360-55247360 18:57580128-57580128
20 FECH NM_000140.4(FECH): c.912+14A> G single nucleotide variant Uncertain significance rs886053999 18:55222063-55222063 18:57554831-57554831
21 FECH NM_000140.4(FECH): c.819C> T (p.Gly273=) single nucleotide variant Uncertain significance rs138840143 18:55222170-55222170 18:57554938-57554938
22 FECH NM_000140.4(FECH): c.*1176G> A single nucleotide variant Uncertain significance rs886053989 18:55216768-55216768 18:57549536-57549536
23 FECH NM_000140.4(FECH): c.185C> G (p.Pro62Arg) single nucleotide variant Uncertain significance 18:55247314-55247314 18:57580082-57580082
24 FECH NM_000140.4(FECH): c.202A> G (p.Lys68Glu) single nucleotide variant Uncertain significance rs756377185 18:55240590-55240590 18:57573358-57573358
25 FECH NM_000140.4(FECH): c.*5090G> A single nucleotide variant Uncertain significance rs776370345 18:55212854-55212854 18:57545622-57545622
26 FECH NM_000140.4(FECH): c.*4337G> A single nucleotide variant Uncertain significance rs747976113 18:55213607-55213607 18:57546375-57546375
27 FECH NM_000140.4(FECH): c.*4336A> G single nucleotide variant Uncertain significance rs769571284 18:55213608-55213608 18:57546376-57546376
28 FECH NM_000140.4(FECH): c.*4720T> C single nucleotide variant Uncertain significance rs760022638 18:55213224-55213224 18:57545992-57545992
29 FECH NM_000140.4(FECH): c.*4449A> G single nucleotide variant Uncertain significance rs886053968 18:55213495-55213495 18:57546263-57546263
30 FECH NM_000140.4(FECH): c.*2600G> A single nucleotide variant Uncertain significance rs886053976 18:55215344-55215344 18:57548112-57548112
31 FECH NM_000140.4(FECH): c.*2436_*2440GTTTT[2] short repeat Uncertain significance rs886053981 18:55215494-55215498 18:57548262-57548266
32 FECH NM_000140.4(FECH): c.*4528C> T single nucleotide variant Uncertain significance rs564734119 18:55213416-55213416 18:57546184-57546184
33 FECH NM_000140.4(FECH): c.*3788A> G single nucleotide variant Uncertain significance rs886053971 18:55214156-55214156 18:57546924-57546924
34 FECH NM_000140.4(FECH): c.*2451_*2452insG insertion Uncertain significance rs1555678907 18:55215492-55215493 18:57548260-57548261
35 FECH NM_000140.4(FECH): c.*2450_*2451insG insertion Uncertain significance rs886053980 18:55215493-55215494 18:57548261-57548262
36 FECH NM_000140.4(FECH): c.*2446G> T single nucleotide variant Uncertain significance rs4940895 18:55215498-55215498 18:57548266-57548266
37 FECH NM_000140.4(FECH): c.*2079C> T single nucleotide variant Uncertain significance rs886053983 18:55215865-55215865 18:57548633-57548633
38 FECH NM_000140.4(FECH): c.*1950A> G single nucleotide variant Uncertain significance rs886053985 18:55215994-55215994 18:57548762-57548762
39 FECH NM_000140.4(FECH): c.*825T> C single nucleotide variant Uncertain significance rs886053993 18:55217119-55217119 18:57549887-57549887
40 FECH NM_000140.4(FECH): c.*136G> C single nucleotide variant Uncertain significance rs886053995 18:55217808-55217808 18:57550576-57550576
41 FECH NM_000140.4(FECH): c.598+12T> A single nucleotide variant Uncertain significance rs370521491 18:55233667-55233667 18:57566435-57566435
42 FECH NM_000140.4(FECH): c.*60T> C single nucleotide variant Uncertain significance rs886053996 18:55217884-55217884 18:57550652-57550652
43 FECH NM_000140.4(FECH): c.*55C> T single nucleotide variant Uncertain significance rs886053997 18:55217889-55217889 18:57550657-57550657
44 FECH NM_000140.4(FECH): c.*443A> C single nucleotide variant Uncertain significance rs886053994 18:55217501-55217501 18:57550269-57550269
45 FECH NM_000140.4(FECH): c.*394C> G single nucleotide variant Uncertain significance rs781751487 18:55217550-55217550 18:57550318-57550318
46 FECH NM_000140.4(FECH): c.*2782G> T single nucleotide variant Uncertain significance rs886053975 18:55215162-55215162 18:57547930-57547930
47 FECH NM_000140.4(FECH): c.*2599C> T single nucleotide variant Uncertain significance rs886053977 18:55215345-55215345 18:57548113-57548113
48 FECH NM_000140.4(FECH): c.*2441G> T single nucleotide variant Uncertain significance rs886053982 18:55215503-55215503 18:57548271-57548271
49 FECH NM_000140.4(FECH): c.*2060C> T single nucleotide variant Uncertain significance rs886053984 18:55215884-55215884 18:57548652-57548652
50 FECH NM_000140.4(FECH): c.*1453T> C single nucleotide variant Uncertain significance rs886053986 18:55216491-55216491 18:57549259-57549259

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

74 (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

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 FECH CLPX ALAS2 ALAS1
2 mitochondrial inner membrane GO:0005743 9.35 SLC25A38 PPOX FECH CLPX ALAS2
3 mitochondrion GO:0005739 9.23 UROS PPOX IREB2 FECH CPOX CLPX

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.72 HMOX1 ALAS2 ALAD
2 tetrapyrrole biosynthetic process GO:0033014 9.65 UROS HMBS ALAS2 ALAS1 ALAD
3 porphyrin-containing compound biosynthetic process GO:0006779 9.63 UROS PPOX HMBS FECH CPOX ALAD
4 cellular iron ion homeostasis GO:0006879 9.61 IREB2 HMOX1 ALAS2
5 erythrocyte differentiation GO:0030218 9.58 SLC25A38 ALAS2
6 biosynthetic process GO:0009058 9.57 ALAS2 ALAS1
7 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 UROS PPOX IREB2 HMBS CPOX ALAS2
8 response to lead ion GO:0010288 9.54 FECH ALAD
9 response to metal ion GO:0010038 9.52 FECH ALAD
10 response to arsenic-containing substance GO:0046685 9.51 FECH ALAD
11 response to platinum ion GO:0070541 9.5 UROS FECH ALAD
12 erythrocyte homeostasis GO:0034101 9.49 IREB2 HMOX1
13 cellular response to arsenic-containing substance GO:0071243 9.48 UROS HMOX1
14 response to methylmercury GO:0051597 9.46 FECH ALAD
15 porphyrin-containing compound metabolic process GO:0006778 9.4 ALAS2 ALAS1
16 protoporphyrinogen IX metabolic process GO:0046501 9.37 PPOX FECH
17 heme biosynthetic process GO:0006783 9.28 UROS SLC25A38 PPOX HMBS FECH CPOX
18 response to activity GO:0014823 9.27 ALAD
19 response to zinc ion GO:0010043 9.26 ALAD

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

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

Sources for Protoporphyria, Erythropoietic, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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51 NDF-RT
54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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