MCID: PRT103
MIFTS: 44

Protoporphyria, Erythropoietic, Autosomal Recessive malady

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

Aliases & Classifications for Protoporphyria, Erythropoietic, Autosomal Recessive

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Aliases & Descriptions for Protoporphyria, Erythropoietic, Autosomal Recessive:

Name: Protoporphyria, Erythropoietic, Autosomal Recessive 49 11
Erythropoietic Protoporphyria 10 68 45 12 67 65
Ferrochelatase Deficiency 68 45 67 65
Epp 10 68 45 67
Heme Synthetase Deficiency 68 45 67
 
Protoporphyria 10 68 45
Erythropoietic Protoporphyria, Autosomal Recessive 21 22
Protoporphyria, Erythropoietic 36 24
Erythrohepatic Protoporphyria 68 45
Protoporphyria Erythropoietic 47

Characteristics:

HPO:

61
protoporphyria, erythropoietic, autosomal recessive:
Onset and clinical course: childhood onset
Inheritance: autosomal recessive inheritance, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 177000
Disease Ontology10 DOID:13270
ICD1027 E80.0
SNOMED-CT59 51022005
MeSH36 D046351
NCIt42 C84698
UMLS65 C0162568, C0349426

Summaries for Protoporphyria, Erythropoietic, Autosomal Recessive

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NIH Rare Diseases:45 Erythropoietic protoporphyria 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 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. last updated: 6/23/2015

MalaCards based summary: Protoporphyria, Erythropoietic, Autosomal Recessive, also known as erythropoietic protoporphyria, is related to protoporphyria, erythropoietic, x-linked and autosomal erythropoietic protoporphyria, and has symptoms including erythema, hypertriglyceridemia and hemolytic anemia. An important gene associated with Protoporphyria, Erythropoietic, Autosomal Recessive is FECH (Ferrochelatase), and among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. Affiliated tissues include skin, liver and bone, and related mouse phenotype integument.

Disease Ontology:10 An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.

UniProtKB/Swiss-Prot:67 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.

OMIM:49 Erythropoietic protoporphyria is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme... (177000) more...

GeneReviews summary for NBK100826

Related Diseases for Protoporphyria, Erythropoietic, Autosomal Recessive

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



Diseases related to protoporphyria, erythropoietic, autosomal recessive

Symptoms for Protoporphyria, Erythropoietic, Autosomal Recessive

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Symptoms by clinical synopsis from OMIM:

177000

Clinical features from OMIM:

177000

HPO human phenotypes related to Protoporphyria, Erythropoietic, Autosomal Recessive:

(show all 8)
id Description Frequency HPO Source Accession
1 erythema HP:0010783
2 hypertriglyceridemia HP:0002155
3 hemolytic anemia HP:0001878
4 hepatic failure HP:0001399
5 cholelithiasis HP:0001081
6 pruritus HP:0000989
7 edema HP:0000969
8 eczema HP:0000964

Drugs & Therapeutics for Protoporphyria, Erythropoietic, Autosomal Recessive

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

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
ColestipolapprovedPhase 2, Phase 3550925-79-662816
Synonyms:
Colestid
Colestipol Hydrochloride
 
Colestipolum
Colestipolum [INN-Latin]
Copolymer of bis(2-aminoethyl)amine and 2-(chloromethyl)oxirane
Epichlorohydrin-tetraethylenepentamine polymer
2Hypolipidemic AgentsPhase 2, Phase 32228
3alpha-MSHPhase 3, Phase 212581-05-5
4AntimetabolitesPhase 2, Phase 39454
5HormonesPhase 3, Phase 211748
6Hormone AntagonistsPhase 3, Phase 210002
7Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 3, Phase 29988
8cysteineNutraceuticalPhase 3150
9
Aminolevulinic acidapproved142106-60-5137
Synonyms:
106-60-5
35BEC718-C970-426A-9859-BF58284C60B4
5-ALA
5-Amino-4-oxo-Pentanoate
5-Amino-4-oxo-Pentanoic acid
5-Amino-4-oxopentanoate
5-Amino-4-oxopentanoic acid
5-Amino-4-oxovalerate
5-Amino-4-oxovaleric acid
5-Amino-Levulinate
5-Amino-Levulinic acid
5-Aminolaevulinate
5-Aminolaevulinic acid
5-Aminolevulinate
5-Aminolevulinate hydrochloride
5-Aminolevulinic acid
5-amino-levulinate
5451-09-2
AC-054
AC1L18K9
AKOS003587520
ALA
ALA-PDT
Aladerm
Amino-levulinic acid
Aminolevulinate
Aminolevulinic
Aminolevulinic acid
BIDD:GT0260
BSPBio_003407
C00430
CCRIS 8958
CHEBI:17549
CHEMBL601
CID137
CPD000857229
 
D07567
DALA
DB00855
DivK1c_006954
EINECS 203-414-1
I14-10101
KBio1_001898
KBio2_002062
KBio2_004630
KBio2_007198
KBio3_002627
KBioGR_001176
KBioSS_002062
Kerastick
LMFA01100055
LS-101793
Levulan Kerastick
Levulinic acid, 5-amino- (8CI)
MLS001333097
MLS001333098
MolPort-001-788-423
NCGC00178086-01
Pentanoic acid, 5-amino-4-oxo- (9CI)
SAM002589919
SMR000857229
SPBio_001843
ST50819610
SpecPlus_000858
Spectrum2_001662
Spectrum3_001654
Spectrum4_000618
Spectrum5_001505
Spectrum_001582
UNII-88755TAZ87
delta-ALA
delta-Aminolevulinate
delta-Aminolevulinic acid
delta-aminolevulinic acid
10Protective Agents5651
11Antioxidants2442
12
Canthaxanthin1514-78-35281227
Synonyms:
4,4'-Diketo-b-carotene
4,4'-Diketo-beta-carotene
4,4'-Dioxo-beta-carotene
All-trans,beta-Carotene-4,4'-dione
Cantaxanthin
Cantaxanthine
 
Canthaxanthin
Canthaxanthine
Carophyll Red
Food orange 8
L-Orange 7
Orobronze
Roxanthin Red 10
beta,beta-Carotene-4,4'-dione

Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Phase III Confirmatory Study in Erythropoietic Protoporphyria (EPP)CompletedNCT00979745Phase 3
2Phase III Study of L-Cysteine in Patients With Erythropoietic ProtoporphyriaCompletedNCT00004940Phase 3
3Sorbent Therapy of the Cutaneous PorphyriasCompletedNCT01422915Phase 2, Phase 3
4Phase III Confirmatory Study in Erythropoietic ProtoporphyriaActive, not recruitingNCT01605136Phase 3
5Phase II Confirmatory Study in Erythropoietic Protoporphyria (EPP)CompletedNCT01097044Phase 2
6Study of Cysteine Hydrochloride for Erythropoietic ProtoporphyriaCompletedNCT00004831
7Canthaxanthin Retinopathy: A Long-term ObservationCompletedNCT01128062
8Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial ImpactRecruitingNCT01688895
9Mitoferrin-1 Expression in Erythropoietic Protoporphyria (Porphyria Rare Disease Clinical Research Consortium (RDCRC))RecruitingNCT01880983
10Does Exercise and Heat Increase the Lightsensibility in Patients With Erythropoietic ProtoporphyriaRecruitingNCT00206869
11Longitudinal Study of the PorphyriasRecruitingNCT01561157
12Effect of Isoniazid on Protoporphyrin Levels in Erythropoietic ProtoporphyriaWithdrawnNCT01550705

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Cochrane evidence based reviews: protoporphyria, erythropoietic

Genetic Tests for Protoporphyria, Erythropoietic, Autosomal Recessive

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Genetic tests related to Protoporphyria, Erythropoietic, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Erythropoietic Protoporphyria, Autosomal Recessive22 FECH

Anatomical Context for Protoporphyria, Erythropoietic, Autosomal Recessive

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MalaCards organs/tissues related to Protoporphyria, Erythropoietic, Autosomal Recessive:

33
Skin, Liver, Bone, Bone marrow, Spleen

Animal Models for Protoporphyria, Erythropoietic, Autosomal Recessive or affiliated genes

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MGI Mouse Phenotypes related to Protoporphyria, Erythropoietic, Autosomal Recessive:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.8ALAS2, FECH, MC1R, PCBD1, UROS

Publications for Protoporphyria, Erythropoietic, Autosomal Recessive

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Variations for Protoporphyria, Erythropoietic, Autosomal Recessive

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

67 (show all 23)
id Symbol AA change Variation ID SNP ID
1FECHp.Gly55CysVAR_002383rs3848519
2FECHp.Ile186ThrVAR_002384
3FECHp.Met267IleVAR_002385rs118204037
4FECHp.His386ProVAR_002386
5FECHp.Phe417SerVAR_002387
6FECHp.Pro62ArgVAR_030553
7FECHp.Ile71LysVAR_030554
8FECHp.Gln139LeuVAR_030555
9FECHp.Ser151ProVAR_030556
10FECHp.Glu178LysVAR_030557
11FECHp.Leu182ArgVAR_030558
12FECHp.Tyr191HisVAR_030559
13FECHp.Pro192ThrVAR_030560
14FECHp.Cys236TyrVAR_030561
15FECHp.Phe260LeuVAR_030562
16FECHp.Thr283IleVAR_030563
17FECHp.Met288LysVAR_030564
18FECHp.Pro334LeuVAR_030565rs150146721
19FECHp.Val362GlyVAR_030566
20FECHp.Lys379AsnVAR_030567
21FECHp.Cys406SerVAR_030568
22FECHp.Cys406TyrVAR_030569
23FECHp.Ser264LeuVAR_054629

Clinvar genetic disease variations for Protoporphyria, Erythropoietic, Autosomal Recessive:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1FECHNM_001012515.2(FECH): c.571G> A (p.Ala191Thr)single nucleotide variantPathogenicrs397514476GRCh37Chr 18, 55233724: 55233724
2FECHNM_001012515.2(FECH): c.163G> T (p.Gly55Cys)single nucleotide variantPathogenicrs3848519GRCh37Chr 18, 55247336: 55247336
3FECHNM_001012515.2(FECH): c.819G> A (p.Met273Ile)single nucleotide variantPathogenicrs118204037GRCh37Chr 18, 55226380: 55226380
4FECHNM_000140.3(FECH): c.68-23C> Tsingle nucleotide variantPathogenicrs2269219GRCh37Chr 18, 55247454: 55247454
5FECHNM_001012515.2(FECH): c.1268T> C (p.Phe423Ser)single nucleotide variantPathogenicrs118204039GRCh37Chr 18, 55217966: 55217966
6FECHNM_000140.3(FECH): c.1077+1G> Asingle nucleotide variantPathogenicrs786205245GRCh38Chr 18, 57554259: 57554259
7FECHNM_000140.3(FECH): c.1137+3A> Gsingle nucleotide variantPathogenicrs202147607GRCh37Chr 18, 55218544: 55218544
8FECHNM_001012515.2(FECH): c.1103T> G (p.Val368Gly)single nucleotide variantPathogenicrs118204040GRCh37Chr 18, 55218599: 55218599
9FECHNM_000140.3(FECH): c.314+2T> Gsingle nucleotide variantPathogenicrs149067146GRCh37Chr 18, 55240476: 55240476
10FECHNM_000140.3(FECH): c.195_314delsingle nucleotide variantPathogenicrs786205246GRCh38Chr 18, 57573240: 57573240
11FECHNM_000140.3(FECH): c.1078_1137deldeletionPathogenicGRCh38Chr 18, 57551317: 57551317
12FECHNM_001012515.2(FECH): c.1154delA (p.Lys385Argfs)deletionPathogenicrs764466739GRCh38Chr 18, 57551316: 57551316
13FECHNM_000140.3(FECH): c.68_194delsingle nucleotide variantPathogenicrs786205247GRCh38Chr 18, 57580062: 57580062
14FECHNM_000140.3(FECH): c.580_584delTACAG (p.Tyr194Leufs)deletionPathogenicrs786205248GRCh37Chr 18, 55233693: 55233697
15FECHNM_001012515.2(FECH): c.1242T> A (p.Asn414Lys)single nucleotide variantPathogenicrs267606803GRCh37Chr 18, 55217992: 55217992
16FECHNM_000140.3(FECH): c.315-48T> Csingle nucleotide variantPathogenicrs2272783GRCh37Chr 18, 55238820: 55238820

Expression for genes affiliated with Protoporphyria, Erythropoietic, Autosomal Recessive

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

Pathways for genes affiliated with Protoporphyria, Erythropoietic, Autosomal Recessive

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GO Terms for genes affiliated with Protoporphyria, Erythropoietic, Autosomal Recessive

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrionGO:00057399.2BFSP1, CPOX, PPOX

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1tetrapyrrole biosynthetic processGO:003301410.0ALAD, UROS
2response to metal ionGO:00100389.9ALAD, FECH
3response to lead ionGO:00102889.8ALAD, FECH
4response to iron ionGO:00100399.8ALAD, CPOX
5protoporphyrinogen IX biosynthetic processGO:00067829.5ALAD, ALAS2, CPOX
6response to ethanolGO:00454719.3ALAD, FECH
7heme biosynthetic processGO:00067838.4ALAD, CPOX, FECH, PPOX, UROS
8porphyrin-containing compound metabolic processGO:00067788.0ALAD, ALAS2, CPOX, FECH, PPOX, UROS

Sources for Protoporphyria, Erythropoietic, Autosomal Recessive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet