Erythropoietic Protoporphyria, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ERY016 MIFTS: 13	Erythropoietic Protoporphyria, Autosomal Recessive Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases
Genes Tissues Related diseases Publications Expand all tables

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Aliases & Classifications for Erythropoietic Protoporphyria, Autosomal Recessive

MalaCards integrated aliases for Erythropoietic Protoporphyria, Autosomal Recessive:

Name: Erythropoietic Protoporphyria, Autosomal Recessive ²⁴

Characteristics:

GeneReviews:

²⁴

Penetrance Epp appears to be 100% penetrant when there are biallelic fech loss-of-function variants or compound heterozygosity for a fech loss-of-function variant and a variant that causes low expression of the other fech allele.

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Nephrological diseases Skin diseases

See all MalaCards categories (disease lists)

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Summaries for Erythropoietic Protoporphyria, Autosomal Recessive

MalaCards based summary : Erythropoietic Protoporphyria, Autosomal Recessive is related to protoporphyria, erythropoietic, 1 and cholelithiasis. An important gene associated with Erythropoietic Protoporphyria, Autosomal Recessive is FECH (Ferrochelatase). Affiliated tissues include liver, bone and bone marrow.

GeneReviews: NBK100826

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Related Diseases for Erythropoietic Protoporphyria, Autosomal Recessive

Diseases in the Erythropoietic Protoporphyria, Autosomal Recessive family:

Protoporphyria, Erythropoietic, 1

Protoporphyria, Erythropoietic, 2

Diseases related to Erythropoietic Protoporphyria, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	protoporphyria, erythropoietic, 1	10.4
2	cholelithiasis	10.2
3	hepatitis a	10.2
4	cholestasis	10.2

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Symptoms & Phenotypes for Erythropoietic Protoporphyria, Autosomal Recessive

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Drugs & Therapeutics for Erythropoietic Protoporphyria, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Erythropoietic Protoporphyria, Autosomal Recessive

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Genetic Tests for Erythropoietic Protoporphyria, Autosomal Recessive

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Anatomical Context for Erythropoietic Protoporphyria, Autosomal Recessive

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

⁴¹

Liver, Bone, Bone Marrow

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Publications for Erythropoietic Protoporphyria, Autosomal Recessive

Articles related to Erythropoietic Protoporphyria, Autosomal Recessive:

(show all 38)

#	Title	Authors	PMID	Year
1	Patients with erythropoietic protoporphyria have reduced erythrocyte protoporphyrin IX from early in pregnancy. ⁴	Heerfordt IM...Wulf HC	27943252	2017
2	Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. ⁴	Balwani M...Desnick RJ	28614581	2017
3	The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. ⁴	Stenson PD...Cooper DN	28349240	2017
4	X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria. ⁴	Brancaleoni V...Di Pierro E	25615817	2016
5	Afamelanotide for Erythropoietic Protoporphyria. ⁴	Langendonk JG...Desnick RJ	26132941	2015
6	Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria. ⁴	Biolcati G...Minder EI	25494545	2015
7	Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria. ⁴	Balwani M...Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network	23364466	2013
8	Liver transplantation for erythropoietic protoporphyria in Europe. ⁴	Wahlin S...European Liver and Intestine Transplant Association	21604355	2011
9	Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics. ⁴	Wahlin S...Harper P	20412370	2011
10	Afamelanotide, an agonistic analog of α-melanocyte-stimulating hormone, in dermal phototoxicity of erythropoietic protoporphyria. ⁴	Minder EI	21073357	2010
11	Vitamin D deficiency in patients with erythropoietic protoporphyria. ⁴	Spelt JM...Zandbergen AA	24137761	2010
12	A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma. ⁴	Minder EI...Schoenfeld N	20337824	2010
13	Acquired erythropoietic protoporphyria. ⁴	Blagojevic D...Trautinger F	19902211	2010
14	Molecular epidemiology of erythropoietic protoporphyria in the U.K. ⁴	Whatley SD...Badminton MN	20105171	2010
15	Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone. ⁴	Harms JH...Minder EI	19656325	2009
16	A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma. ⁴	Mendez M...de Salamanca RE	19298273	2009
17	Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. ⁴	Holme SA...Badminton MN	18787536	2009
18	A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria. ⁴	Minder EI...Bachmann LM	19268006	2009
19	C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. ⁴	Whatley SD...Puy H	18760763	2008
20	Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria. ⁴	Wahlin S...Brun A	18756472	2008
21	Serum 25-hydroxyvitamin D in erythropoietic protoporphyria. ⁴	Holme SA...Elder GH	18476956	2008
22	Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. ⁴	Whatley SD...Badminton MN	17597821	2007
23	Symptomatic response of erythropoietic protoporphyria to iron supplementation. ⁴	Holme SA...Badminton MN	17504727	2007
24	Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice. ⁴	Lyoumi S...Puy H	17003376	2007
25	Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria. ⁴	Rand EB...Bloomer JR	17074841	2006
26	Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. ⁴	Holme SA...Badminton MN	16911284	2006
27	Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18. ⁴	Sarkany RP...Willis F	16882191	2006
28	Liver transplantation for erythropoietic protoporphyria liver disease. ⁴	McGuire BM...Bloomer JR	16315313	2005
29	A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria. ⁴	Minder EI...Deybach JC	11929053	2002
30	Benefits of chronic plasmapheresis and intravenous heme-albumin in erythropoietic protoporphyria after orthotopic liver transplantation. ⁴	Do KD...Bonkovsky HL	11884947	2002
31	The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. ⁴	Gouya L...Deybach JC	11753383	2002
32	Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. ⁴	Aplin C...Elder GH	11886534	2001
33	New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. ⁴	Schneider-Yin X...Minder EI	11039124	2000
34	Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. ⁴	Gouya L...Deybach JC	10068685	1999
35	Human protoporphyria: reduced cutaneous photosensitivity and lower erythrocyte porphyrin levels during pregnancy. ⁴	Poh-Fitzpatrick MB	8996259	1997
36	The liver in protoporphyria. ⁴	Bloomer JR	3281889	1988
37	Fecal protoporphyrin excretion in erythropoietic protoporphyria: effect of cholestyramine and bile acid feeding. ⁴	McCullough AJ...Bickers DR	3335288	1988
38	Erythropoietic Protoporphyria, Autosomal Recessive ³⁸	Balwani M...Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network	23016163	2012

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Genes for Erythropoietic Protoporphyria, Autosomal Recessive

Genes related to Erythropoietic Protoporphyria, Autosomal Recessive (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FECH	Ferrochelatase	Protein Coding	17.49	GeneCards inferred via : Publications (show sections)

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Variations for Erythropoietic Protoporphyria, Autosomal Recessive

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Expression for Erythropoietic Protoporphyria, Autosomal Recessive

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

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Pathways for Erythropoietic Protoporphyria, Autosomal Recessive

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GO Terms for Erythropoietic Protoporphyria, Autosomal Recessive

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