MCID: PRT103
MIFTS: 45

Protoporphyria, Erythropoietic, Autosomal Recessive malady

Genetic diseases, Rare diseases, Nephrological diseases, Skin diseases, Metabolic diseases categories

Aliases & Classifications for Protoporphyria, Erythropoietic, Autosomal Recessive

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Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 64Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 10DISEASES, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 33MeSH, 27ICD9CM, 39NCIt, 56SNOMED-CT, 62UMLS via Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Aliases & Descriptions for Protoporphyria, Erythropoietic, Autosomal Recessive:

Name: Protoporphyria, Erythropoietic, Autosomal Recessive 46 9
Erythropoietic Protoporphyria 8 64 42 10 48 61
Epp 8 64 42 48
Ferrochelatase Deficiency 64 42 61
Protoporphyria 8 64 42
Erythropoietic Protoporphyria, Autosomal Recessive 19 20
 
Erythrohepatic Protoporphyria 64 42
Protoporphyria Erythropoietic 44 22
Heme Synthetase Deficiency 64 42
Xldpp 42 48
Protoporphyria, Erythropoietic, X-Linked Dominant 61
Protoporphyria, Erythropoietic 46


Classifications:



Characteristics (Orphanet epidemiological data):

48
erythropoietic protoporphyria:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked dominant; Prevalence: <1/1000000 (Europe),1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM46 177000
Disease Ontology8 DOID:13270
MeSH33 D046351
ICD9CM27 277.1
NCIt39 C84698
SNOMED-CT56 51022005
Orphanet48 79278
UMLS via Orphanet62 C0162568
MESH via Orphanet34 D046351
ICD10 via Orphanet26 E80.0

Summaries for Protoporphyria, Erythropoietic, Autosomal Recessive

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NIH Rare Diseases:42 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, 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: 11/11/2008

MalaCards based summary: Protoporphyria, Erythropoietic, Autosomal Recessive, also known as erythropoietic protoporphyria, is related to porphyria and hepatitis, 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 is Metabolism of porphyrins. The compounds formyl-coa and protoporphyrin ix have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and bone, and related mouse phenotype integument.

Disease Ontology:8 An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue.

OMIM:46 Erythropoietic protoporphyria is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme... (177000) more...

GeneReviews summary for epp-ar

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:

 48 (show all 9)
  • skin photosensitivity
  • urticaria
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • autosomal dominant inheritance
  • eczema
  • cutaneous edema
  • biliary/gallbladder stones/lithiasis/cholecystitis
  • cirrhosis
  • microcytic anemia

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

(show all 18)
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 autosomal dominant inheritance HP:0000006
9 autosomal recessive inheritance HP:0000007
10 eczema HP:0000964
11 edema HP:0000969
12 pruritus HP:0000989
13 cholelithiasis HP:0001081
14 hepatic failure HP:0001399
15 hemolytic anemia HP:0001878
16 hypertriglyceridemia HP:0002155
17 erythema HP:0010783
18 childhood onset HP:0011463

Drugs & Therapeutics for Protoporphyria, Erythropoietic, Autosomal Recessive

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Drug clinical trials:

Search ClinicalTrials for Protoporphyria, Erythropoietic, Autosomal Recessive

Search NIH Clinical Center for Protoporphyria, Erythropoietic, Autosomal Recessive

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 Recessive20 FECH
2 Erythropoietic Protoporphyria22

Anatomical Context for Protoporphyria, Erythropoietic, Autosomal Recessive

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

31
Skin, Bone marrow, Bone, Spleen, Liver

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

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

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.1ALAS2, FECH

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:

63 (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 21)
id Gene Variation Type Significance SNP ID Assembly Location
1ALAS2NM_000032.4(ALAS2): c.1706_1709delAGTG (p.Glu569Glyfs)deletionPathogenicrs387906472GRCh37Chr X, 55035668: 55035671
2ALAS2NM_000032.4(ALAS2): c.1699_1700delAT (p.Met567Glufs)deletionPathogenicrs387906473GRCh37Chr X, 55035677: 55035678
3FECHNM_001012515.2(FECH): c.571G> A (p.Ala191Thr)single nucleotide variantPathogenicrs397514476GRCh37Chr 18, 55233724: 55233724
4ALAS2NM_000032.4(ALAS2): c.1757A> T (p.Tyr586Phe)single nucleotide variantPathogenicrs139596860GRCh37Chr X, 55035620: 55035620
5FECHNM_001012515.2(FECH): c.163G> T (p.Gly55Cys)single nucleotide variantPathogenicrs3848519GRCh37Chr 18, 55247336: 55247336
6FECHNM_001012515.2(FECH): c.819G> A (p.Met273Ile)single nucleotide variantPathogenicrs118204037GRCh37Chr 18, 55226380: 55226380
7FECHFECH, IVS1, C-T, -23single nucleotide variantPathogenic
8FECHNM_001012515.2(FECH): c.1268T> C (p.Phe423Ser)single nucleotide variantPathogenicrs118204039GRCh37Chr 18, 55217966: 55217966
9FECHFECH, IVS9, G-A, +1single nucleotide variantPathogenic
10FECHFECH, IVS10, A-G, +3single nucleotide variantPathogenic
11FECHNM_001012515.2(FECH): c.1103T> G (p.Val368Gly)single nucleotide variantPathogenicrs118204040GRCh37Chr 18, 55218599: 55218599
12FECHFECH, IVS3, T-G, +2single nucleotide variantPathogenic
13FECHFECH, IVS3, A-C, +6single nucleotide variantPathogenic
14FECHFECH, IVS10DS, A-T, -3single nucleotide variantPathogenic
15FECHFECH, 1-BP DEL, 1135AdeletionPathogenic
16FECHFECH, IVS2, A-G, +11single nucleotide variantPathogenic
17FECHFECH, 5-BP DEL, NT580deletionPathogenic
18FECHNM_001012515.2(FECH): c.1242T> A (p.Asn414Lys)single nucleotide variantPathogenicrs267606803GRCh37Chr 18, 55217992: 55217992
19FECHNM_001012515.2(FECH): c.333-48T> Csingle nucleotide variantPathogenicrs2272783GRCh37Chr 18, 55238820: 55238820
20ALAS2NM_000032.4(ALAS2): c.1642C> T (p.Gln548Ter)single nucleotide variantPathogenicrs397514730GRCh37Chr X, 55035735: 55035735
21ALAS2ALAS2, 26-BP DEL, NT1651deletionPathogenic

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tetrapyrrole biosynthesis36
heme degradation36
Heme Biosynthesis36
heme biosynthesis36
heme biosynthesis from uroporphyrinogen-III I36
9.1ALAS2, FECH

Compounds for genes affiliated with Protoporphyria, Erythropoietic, Autosomal Recessive

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR
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Compounds related to Protoporphyria, Erythropoietic, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 11)
idCompoundScoreTop Affiliating Genes
1formyl-coa44 2410.4ALAS2, FECH
2protoporphyrin ix44 24 1111.4ALAS2, FECH
3haem449.3FECH, ALAS2
4iron-sulfur449.3ALAS2, FECH
55-aminolevulinic acid44 2410.3ALAS2, FECH
6vitamin b6449.2FECH, ALAS2
7heme28 24 1111.2ALAS2, FECH
8iron44 2410.1ALAS2, FECH
9oxygen44 2410.1ALAS2, FECH
10zinc44 2410.0FECH, ALAS2
11alanine448.8ALAS2, FECH

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 inner membraneGO:00057439.1ALAS2, FECH
2mitochondrial matrixGO:00057598.8ALAS2, FECH

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

idNameGO IDScoreTop Affiliating Genes
1porphyrin-containing compound metabolic processGO:00067789.1ALAS2, FECH
2small molecule metabolic processGO:00442819.1ALAS2, FECH
3heme biosynthetic processGO:00067839.0ALAS2, FECH
4erythrocyte differentiationGO:00302188.8ALAS2, FECH

Sources for Protoporphyria, Erythropoietic, Autosomal Recessive

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet