MCID: PRT103
MIFTS: 47

Protoporphyria, Erythropoietic, Autosomal Recessive malady

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

Aliases & Classifications for Protoporphyria, Erythropoietic, Autosomal Recessive

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Sources:
50OMIM, 12diseasecard, 37MeSH, 11Disease Ontology, 69Wikipedia, 46NIH Rare Diseases, 13DISEASES, 68UniProtKB/Swiss-Prot, 25GTR, 66UMLS, 52Orphanet, 22GeneReviews, 23GeneTests, 48Novoseek, 28ICD10, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Protoporphyria, Erythropoietic, Autosomal Recessive:

Name: Protoporphyria, Erythropoietic, Autosomal Recessive 50 12
Erythropoietic Protoporphyria 11 69 46 13 68 25 66
Epp 11 46 52 68
Ferrochelatase Deficiency 46 68 66
Protoporphyria 11 69 46
Erythropoietic Protoporphyria, Autosomal Recessive 22 23
 
Protoporphyria, Erythropoietic 50 37
Heme Synthetase Deficiency 46 68
Autosomal Erythropoietic Protoporphyria 52
Protoporphyria Erythropoietic 48
Erythrohepatic Protoporphyria 46
Ferrochelatase 12

Characteristics:

Orphanet epidemiological data:

52
epp:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

62
protoporphyria, erythropoietic, autosomal recessive:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: childhood onset


Classifications:



External Ids:

OMIM50 177000
Disease Ontology11 DOID:13270
ICD1028 E80.0
MeSH37 D046351
NCIt43 C84698
SNOMED-CT60 51022005
Orphanet52 ORPHA79278
UMLS via Orphanet67 C0162568
ICD10 via Orphanet29 E80.0
MESH via Orphanet38 D046351

Summaries for Protoporphyria, Erythropoietic, Autosomal Recessive

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NIH Rare Diseases:46 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 x-linked protoporphyria, and has symptoms including cutaneous photosensitivity, urticaria and eczema. 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 spleen, and related mouse phenotype integument.

Disease Ontology:11 An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.

OMIM:50 Erythropoietic protoporphyria is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme... (177000) more...

UniProtKB/Swiss-Prot:68 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.

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

Symptoms:

 52 (show all 10)
  • eczema
  • edema
  • pruritus
  • cutaneous photosensitivity
  • cholelithiasis
  • cirrhosis
  • decreased liver function
  • microcytic anemia
  • abnormality of the heme biosynthetic pathway
  • erythema

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

(show all 15)
id Description Frequency HPO Source Accession
1 cutaneous photosensitivity hallmark (90%) HP:0000992
2 urticaria hallmark (90%) HP:0001025
3 eczema occasional (7.5%) HP:0000964
4 edema occasional (7.5%) HP:0000969
5 biliary tract abnormality occasional (7.5%) HP:0001080
6 cirrhosis occasional (7.5%) HP:0001394
7 microcytic anemia occasional (7.5%) HP:0001935
8 eczema HP:0000964
9 edema HP:0000969
10 pruritus HP:0000989
11 cholelithiasis HP:0001081
12 hepatic failure HP:0001399
13 hemolytic anemia HP:0001878
14 hypertriglyceridemia HP:0002155
15 erythema HP:0010783

UMLS symptoms related to Protoporphyria, Erythropoietic, Autosomal Recessive:


pruritus, burning sensation

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):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1alpha-MSHPhase 3, Phase 214
2
ColestipolPhase 2, Phase 3526658-42-4, 50925-79-662816
Synonyms:
Colestipolum
 
Colestipolum [INN-Latin]
Copolymer of bis(2-aminoethyl)amine and 2-(chloromethyl)oxirane
Epichlorohydrin-tetraethylenepentamine polymer
3cysteineNutraceuticalPhase 3166
4
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
5
Aminolevulinic acid150106-60-5137
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-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
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

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

Search NIH Clinical Center for Protoporphyria, Erythropoietic, Autosomal Recessive


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 Protoporphyria25
2 Erythropoietic Protoporphyria, Autosomal Recessive23 FECH

Anatomical Context for Protoporphyria, Erythropoietic, Autosomal Recessive

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

34
Skin, Liver, Spleen, Bone, Bone marrow

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

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.9ALAS2, 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:

68 (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_002387rs118204039
6FECHp.Pro62ArgVAR_030553rs150830931
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_030566rs118204040
20FECHp.Lys379AsnVAR_030567
21FECHp.Cys406SerVAR_030568
22FECHp.Cys406TyrVAR_030569
23FECHp.Ser264LeuVAR_054629

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

5 (show all 15)
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_1137delsingle nucleotide variantPathogenicrs879255507GRCh38Chr 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_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
1mitochondrial intermembrane spaceGO:000575810.1CPOX, PPOX
2mitochondrial inner membraneGO:00057439.2ALAS2, CPOX, FECH
3mitochondrionGO:00057398.6ALAS2, CPOX, FECH, PPOX, UROS

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1protoporphyrinogen IX metabolic processGO:004650110.5FECH, PPOX
2porphyrin-containing compound biosynthetic processGO:000677910.3PPOX, UROS
3response to platinum ionGO:007054110.3ALAD, FECH
4response to insecticideGO:001708510.1CPOX, FECH
5response to inorganic substanceGO:001003510.0ALAD, CPOX
6cellular response to amine stimulusGO:007141810.0HMBS, UROS
7response to metal ionGO:001003810.0ALAD, FECH
8response to vitaminGO:003327310.0ALAD, HMBS
9cellular response to arsenic-containing substanceGO:00712439.8HMBS, UROS
10cellular response to dexamethasone stimulusGO:00715499.8FECH, HMBS
11response to zinc ionGO:00100439.7ALAD, HMBS
12response to cobalt ionGO:00320259.7ALAD, HMBS
13response to arsenic-containing substanceGO:00466859.6ALAD, CPOX, FECH
14cellular response to lead ionGO:00712849.6ALAD, HMBS
15response to lead ionGO:00102889.5ALAD, CPOX, FECH
16response to amino acidGO:00432009.5ALAD, HMBS
17response to iron ionGO:00100399.5ALAD, CPOX
18response to methylmercuryGO:00515979.0ALAD, CPOX, FECH, HMBS
19response to drugGO:00424938.7ALAD, FECH, HMBS, PPOX
20response to hypoxiaGO:00016668.6ALAD, ALAS2, HMBS
21protoporphyrinogen IX biosynthetic processGO:00067828.2ALAD, ALAS2, CPOX, HMBS, PPOX, UROS
22heme biosynthetic processGO:00067837.9ALAD, ALAS2, CPOX, FECH, HMBS, PPOX

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

idNameGO IDScoreTop Affiliating Genes
1coenzyme bindingGO:00506629.4ALAS2, HMBS
2uroporphyrinogen-III synthase activityGO:00048529.3HMBS, UROS

Sources for Protoporphyria, Erythropoietic, Autosomal Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet