EPP
MCID: ATS324
MIFTS: 25

Autosomal Erythropoietic Protoporphyria (EPP)

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Autosomal Erythropoietic Protoporphyria

MalaCards integrated aliases for Autosomal Erythropoietic Protoporphyria:

Name: Autosomal Erythropoietic Protoporphyria 20 6
Erythrohepatic Protoporphyria 20
Heme Synthetase Deficiency 20
Ferrochelatase Deficiency 20
Epp 20

Classifications:



Summaries for Autosomal Erythropoietic Protoporphyria

GARD : 20 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 : Autosomal Erythropoietic Protoporphyria, also known as erythrohepatic protoporphyria, is related to protoporphyria, erythropoietic, 1 and protoporphyria, erythropoietic, x-linked. An important gene associated with Autosomal Erythropoietic Protoporphyria is FECH (Ferrochelatase). Affiliated tissues include liver, bone marrow and spleen, and related phenotypes are erythema and cutaneous photosensitivity

Related Diseases for Autosomal Erythropoietic Protoporphyria

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



Diseases related to Autosomal Erythropoietic Protoporphyria

Symptoms & Phenotypes for Autosomal Erythropoietic Protoporphyria

Human phenotypes related to Autosomal Erythropoietic Protoporphyria:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 erythema 31 hallmark (90%) HP:0010783
2 cutaneous photosensitivity 31 hallmark (90%) HP:0000992
3 pruritus 31 hallmark (90%) HP:0000989
4 abnormal circulating porphyrin concentration 31 hallmark (90%) HP:0010472
5 cirrhosis 31 occasional (7.5%) HP:0001394
6 microcytic anemia 31 occasional (7.5%) HP:0001935
7 cholelithiasis 31 occasional (7.5%) HP:0001081
8 eczema 31 occasional (7.5%) HP:0000964
9 edema 31 occasional (7.5%) HP:0000969
10 decreased liver function 31 occasional (7.5%) HP:0001410

Drugs & Therapeutics for Autosomal Erythropoietic Protoporphyria

Search Clinical Trials , NIH Clinical Center for Autosomal Erythropoietic Protoporphyria

Genetic Tests for Autosomal Erythropoietic Protoporphyria

Anatomical Context for Autosomal Erythropoietic Protoporphyria

MalaCards organs/tissues related to Autosomal Erythropoietic Protoporphyria:

40
Liver, Bone Marrow, Spleen

Publications for Autosomal Erythropoietic Protoporphyria

Articles related to Autosomal Erythropoietic Protoporphyria:

# Title Authors PMID Year
1
Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice. 6
28093505 2017
2
Ferrochelatase gene mutation in Singapore and a novel frame-shift mutation in an Asian boy with erythropoietic protoporphyria. 6
28054335 2017
3
Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene. 6
26280465 2016
4
Molecular epidemiology of erythropoietic protoporphyria in the U.K. 6
20105171 2010
5
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. 6
16385445 2006
6
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. 6
11753383 2002
7
[Contribution of Japanese researchers to progress in the field of hematology in the last 100 years: Porphyria/congenital heme synthetase deficiency]. 61
12187670 2002
8
Ferrochelatase deficiency in an infant with anemia and growth delay. 61
440897 1979
9
Porphyrin synthesis in blood cells of patients with erythropoietic protoporphyria. 61
832411 1977
10
Heme synthetase deficiency in human protoporphyria. Demonstration of the defect in liver and cultured skin fibroblasts. 61
1184741 1975

Variations for Autosomal Erythropoietic Protoporphyria

ClinVar genetic disease variations for Autosomal Erythropoietic Protoporphyria:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FECH NM_000140.4(FECH):c.315-48T>C SNV Pathogenic 562 rs2272783 GRCh37: 18:55238820-55238820
GRCh38: 18:57571588-57571588
2 FECH NM_000140.5(FECH):c.47del (p.Gly16fs) Deletion Likely pathogenic 930105 GRCh37: 18:55253806-55253806
GRCh38: 18:57586574-57586574

Expression for Autosomal Erythropoietic Protoporphyria

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

Pathways for Autosomal Erythropoietic Protoporphyria

GO Terms for Autosomal Erythropoietic Protoporphyria

Sources for Autosomal Erythropoietic Protoporphyria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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