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

MCID: ERY016 MIFTS: 19	Erythropoietic Protoporphyria, Autosomal Recessive Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases
Genes Variations 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 ²⁵ ⁶

Characteristics:

GeneReviews:

²⁵

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: Liver diseases Nephrological diseases Skin diseases Immune diseases Blood 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 and bone marrow.

GeneReviews: NBK100826

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Related Diseases for Erythropoietic Protoporphyria, Autosomal Recessive

Diseases in the Autosomal Erythropoietic Protoporphyria family:

Protoporphyria, Erythropoietic, 1	Protoporphyria, Erythropoietic, 2
Erythropoietic Protoporphyria, Autosomal Recessive

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

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

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

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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:

⁴⁰

Liver, Bone Marrow

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Publications for Erythropoietic Protoporphyria, Autosomal Recessive

Articles related to Erythropoietic Protoporphyria, Autosomal Recessive:

(show top 50) (show all 51)

#	Title	Authors	PMID	Year
1	The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. ⁶ ²⁵	Gouya L...Deybach JC	11753383	2002
2	Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease. ⁶	Herrero C...Lecha M	17875872	2007
3	Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. ⁶	Gouya L...Deybach JC	16385445	2006
4	Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. ⁶	Gouya L...Deybach JC	14669009	2004
5	Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. ⁶	Schneider-Yin X...Ferreira GC	10942404	2000
6	Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation. ⁶	Bloomer J...Brenner D	9649563	1998
7	Recessive inheritance of erythropoietic protoporphyria with liver failure. ⁶	Sarkany RP...Cox TM	7910885	1994
8	Molecular defect in human erythropoietic protoporphyria with fatal liver failure. ⁶	Nakahashi Y...Taketani S	8500787	1993
9	A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing. ⁶	Wang X...Piomelli S	8481408	1993
10	A molecular defect in human protoporphyria. ⁶	Brenner DA...Dailey HA	1376018	1992
11	The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria. ⁶	Nakahashi Y...Sassa S	1729699	1992
12	Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. ⁶	Lamoril J...Deybach JC	1755842	1991
13	The effect of liver transplantation in a 13-year-old boy with erythropoietic protoporphyria. ⁶	Polson RJ...Williams R	3047929	1988
14	Fatal liver failure in protoporphyria. Synergism between ethanol excess and the genetic defect. ⁶	Bonkovsky HL...Schned AR	3940245	1986
15	Patients with erythropoietic protoporphyria have reduced erythrocyte protoporphyrin IX from early in pregnancy. ²⁵	Heerfordt IM...Wulf HC	27943252	2017
16	Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. ²⁵	Balwani M...Desnick RJ	28614581	2017
17	The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. ²⁵	Stenson PD...Cooper DN	28349240	2017
18	X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria. ²⁵	Brancaleoni V...Di Pierro E	25615817	2016
19	Afamelanotide for Erythropoietic Protoporphyria. ²⁵	Langendonk JG...Desnick RJ	26132941	2015
20	Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria. ²⁵	Biolcati G...Minder EI	25494545	2015
21	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. ²⁵	Balwani M...Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network	23364466	2013
22	Liver transplantation for erythropoietic protoporphyria in Europe. ²⁵	Wahlin S...European Liver and Intestine Transplant Association	21604355	2011
23	Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics. ²⁵	Wahlin S...Harper P	20412370	2011
24	Afamelanotide, an agonistic analog of α-melanocyte-stimulating hormone, in dermal phototoxicity of erythropoietic protoporphyria. ²⁵	Minder EI	21073357	2010
25	Vitamin D deficiency in patients with erythropoietic protoporphyria. ²⁵	Spelt JM...Zandbergen AA	24137761	2010
26	A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma. ²⁵	Minder EI...Schoenfeld N	20337824	2010
27	Acquired erythropoietic protoporphyria. ²⁵	Blagojevic D...Trautinger F	19902211	2010
28	Molecular epidemiology of erythropoietic protoporphyria in the U.K. ²⁵	Whatley SD...Badminton MN	20105171	2010
29	Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone. ²⁵	Harms JH...Minder EI	19656325	2009
30	A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma. ²⁵	Mendez M...de Salamanca RE	19298273	2009
31	Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. ²⁵	Holme SA...Badminton MN	18787536	2009
32	A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria. ²⁵	Minder EI...Bachmann LM	19268006	2009
33	C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. ²⁵	Whatley SD...Puy H	18760763	2008
34	Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria. ²⁵	Wahlin S...Brun A	18756472	2008
35	Serum 25-hydroxyvitamin D in erythropoietic protoporphyria. ²⁵	Holme SA...Elder GH	18476956	2008
36	Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. ²⁵	Whatley SD...Badminton MN	17597821	2007
37	Symptomatic response of erythropoietic protoporphyria to iron supplementation. ²⁵	Holme SA...Badminton MN	17504727	2007
38	Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice. ²⁵	Lyoumi S...Puy H	17003376	2007
39	Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria. ²⁵	Rand EB...Bloomer JR	17074841	2006
40	Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. ²⁵	Holme SA...Badminton MN	16911284	2006
41	Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18. ²⁵	Sarkany RP...Willis F	16882191	2006
42	Liver transplantation for erythropoietic protoporphyria liver disease. ²⁵	McGuire BM...Bloomer JR	16315313	2005
43	Benefits of chronic plasmapheresis and intravenous heme-albumin in erythropoietic protoporphyria after orthotopic liver transplantation. ²⁵	Do KD...Bonkovsky HL	11884947	2002
44	A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria. ²⁵	Minder EI...Deybach JC	11929053	2002
45	Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. ²⁵	Aplin C...Elder GH	11886534	2001
46	New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. ²⁵	Schneider-Yin X...Minder EI	11039124	2000
47	Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. ²⁵	Gouya L...Deybach JC	10068685	1999
48	Human protoporphyria: reduced cutaneous photosensitivity and lower erythrocyte porphyrin levels during pregnancy. ²⁵	Poh-Fitzpatrick MB	8996259	1997
49	The liver in protoporphyria. ²⁵	Bloomer JR	3281889	1988
50	Fecal protoporphyrin excretion in erythropoietic protoporphyria: effect of cholestyramine and bile acid feeding. ²⁵	McCullough AJ...Bickers DR	3335288	1988

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Genes for Erythropoietic Protoporphyria, Autosomal Recessive

Genes related to Erythropoietic Protoporphyria, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FECH	Ferrochelatase	Protein Coding	432.24	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Publications (show sections)	1376018

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Variations for Erythropoietic Protoporphyria, Autosomal Recessive

ClinVar genetic disease variations for Erythropoietic Protoporphyria, Autosomal Recessive:

⁶ (show top 50) (show all 151)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	FECH	NM_000140.4(FECH):c.1250T>C (p.Phe417Ser)	SNV	Pathogenic	551	rs118204039	18:55217966-55217966	18:57550734-57550734
2	FECH	NM_000140.4(FECH):c.1077+1G>A	SNV	Pathogenic	552	rs786205245	18:55221491-55221491	18:57554259-57554259
3	FECH	NM_000140.4(FECH):c.1137+3A>G	SNV	Pathogenic	553	rs202147607	18:55218544-55218544	18:57551312-57551312
4	FECH	NM_000140.4(FECH):c.1085T>G (p.Val362Gly)	SNV	Pathogenic	554	rs118204040	18:55218599-55218599	18:57551367-57551367
5	FECH	NM_000140.4(FECH):c.314+2T>G	SNV	Pathogenic	555	rs149067146	18:55240476-55240476	18:57573244-57573244
6	FECH	NM_000140.4(FECH):c.314+6A>C	SNV	Pathogenic	556	rs786205246	18:55240472-55240472	18:57573240-57573240
7	FECH	NM_000140.3(FECH):c.1078_1137del	SNV	Pathogenic	557	rs879255507	18:55218549-55218549	18:57551317-57551317
8	FECH	NM_000140.4(FECH):c.1136del (p.Lys379fs)	Deletion	Pathogenic	558	rs764466739	18:55218548-55218548	18:57551316-57551316
9	FECH	NM_000140.4(FECH):c.194+11A>G	SNV	Pathogenic	559	rs786205247	18:55247294-55247294	18:57580062-57580062
10	FECH	NM_000140.4(FECH):c.580_584del (p.Tyr194fs)	Deletion	Pathogenic	560	rs786205248	18:55233693-55233697	18:57566461-57566465
11	FECH	NM_000140.4(FECH):c.1224T>A (p.Asn408Lys)	SNV	Pathogenic	561	rs267606803	18:55217992-55217992	18:57550760-57550760
12	FECH	NM_000140.4(FECH):c.553G>A (p.Ala185Thr)	SNV	Pathogenic	30951	rs397514476	18:55233724-55233724	18:57566492-57566492
13	FECH	NM_000140.5(FECH):c.598+1G>T	SNV	Pathogenic	803500	rs1598996309	18:55233678-55233678	18:57566446-57566446
14	FECH	NM_000140.4(FECH):c.820G>A (p.Asp274Asn)	SNV	Pathogenic	631802	rs146269992	18:55222169-55222169	18:57554937-57554937
15	FECH	NM_000140.5(FECH):c.599-3C>T	SNV	Likely pathogenic	803499	rs765069812	18:55230215-55230215	18:57562983-57562983
16	FECH	NM_000140.5(FECH):c.365del (p.Gln122fs)	Deletion	Likely pathogenic	803501	rs1599003455	18:55238722-55238722	18:57571490-57571490
17	FECH	NM_000140.4(FECH):c.1001C>T (p.Pro334Leu)	SNV	Likely pathogenic	375409	rs150146721	18:55221568-55221568	18:57554336-57554336
18	FECH	NM_000140.4(FECH):c.913G>T (p.Val305Phe)	SNV	Likely pathogenic	623168	rs765518889	18:55221656-55221656	18:57554424-57554424
19	FECH	NM_000140.4(FECH):c.854A>G (p.Gln285Arg)	SNV	Likely pathogenic	327428	rs370708663	18:55222135-55222135	18:57554903-57554903
20	FECH	NM_000140.4(FECH):c.315-48T>C	SNV	Conflicting interpretations of pathogenicity	562	rs2272783	18:55238820-55238820	18:57571588-57571588
21	FECH	NM_000140.4(FECH):c.*2079C>T	SNV	Uncertain significance	327385	rs886053983	18:55215865-55215865	18:57548633-57548633
22	FECH	NM_000140.4(FECH):c.*5090G>A	SNV	Uncertain significance	327325	rs776370345	18:55212854-55212854	18:57545622-57545622
23	FECH	NM_000140.4(FECH):c.*1173A>T	SNV	Uncertain significance	327402	rs868017208	18:55216771-55216771	18:57549539-57549539
24	FECH	NM_000140.4(FECH):c.*1950A>G	SNV	Uncertain significance	327388	rs886053985	18:55215994-55215994	18:57548762-57548762
25	FECH	NM_000140.4(FECH):c.*4336A>G	SNV	Uncertain significance	327345	rs769571284	18:55213608-55213608	18:57546376-57546376
26	FECH	NM_000140.4(FECH):c.*5349C>T	SNV	Uncertain significance	327319	rs189146107	18:55212595-55212595	18:57545363-57545363
27	FECH	NM_000140.4(FECH):c.3753_3754insT	Insertion	Uncertain significance	327354	rs886053972	18:55214190-55214191	18:57546958-57546959
28	FECH	NM_000140.4(FECH):c.*394C>G	SNV	Uncertain significance	327417	rs781751487	18:55217550-55217550	18:57550318-57550318
29	FECH	NM_000140.4(FECH):c.*2600G>A	SNV	Uncertain significance	327371	rs886053976	18:55215344-55215344	18:57548112-57548112
30	FECH	NM_000140.4(FECH):c.*2513G>A	SNV	Uncertain significance	327374	rs886053978	18:55215431-55215431	18:57548199-57548199
31	FECH	NM_000140.4(FECH):c.912+14A>G	SNV	Uncertain significance	327427	rs886053999	18:55222063-55222063	18:57554831-57554831
32	FECH	NM_000140.4(FECH):c.*443A>C	SNV	Uncertain significance	327415	rs886053994	18:55217501-55217501	18:57550269-57550269
33	FECH	NM_000140.4(FECH):c.*2599C>T	SNV	Uncertain significance	327372	rs886053977	18:55215345-55215345	18:57548113-57548113
34	FECH	NM_000140.4(FECH):c.*3719C>T	SNV	Uncertain significance	327355	rs886053973	18:55214225-55214225	18:57546993-57546993
35	FECH	NM_000140.4(FECH):c.*4237A>G	SNV	Uncertain significance	327346	rs886053969	18:55213707-55213707	18:57546475-57546475
36	FECH	NM_000140.4(FECH):c.*2441G>T	SNV	Uncertain significance	327383	rs886053982	18:55215503-55215503	18:57548271-57548271
37	FECH	NM_000140.4(FECH):c.*2060C>T	SNV	Uncertain significance	327386	rs886053984	18:55215884-55215884	18:57548652-57548652
38	FECH	NM_000140.4(FECH):c.*4363G>A	SNV	Uncertain significance	327343	rs375097125	18:55213581-55213581	18:57546349-57546349
39	FECH	NM_000140.4(FECH):c.*4077C>T	SNV	Uncertain significance	327348	rs548648988	18:55213867-55213867	18:57546635-57546635
40	FECH	NM_000140.4(FECH):c.*1453T>C	SNV	Uncertain significance	327394	rs886053986	18:55216491-55216491	18:57549259-57549259
41	FECH	NM_000140.4(FECH):c.*2782G>T	SNV	Uncertain significance	327368	rs886053975	18:55215162-55215162	18:57547930-57547930
42	FECH	NM_000140.4(FECH):c.*1176G>A	SNV	Uncertain significance	327400	rs886053989	18:55216768-55216768	18:57549536-57549536
43	FECH	NM_000140.4(FECH):c.*1170T>A	SNV	Uncertain significance	327403	rs886053991	18:55216774-55216774	18:57549542-57549542
44	FECH	NM_000140.4(FECH):c.*136G>C	SNV	Uncertain significance	327420	rs886053995	18:55217808-55217808	18:57550576-57550576
45	FECH	NM_000140.4(FECH):c.*55C>T	SNV	Uncertain significance	327423	rs886053997	18:55217889-55217889	18:57550657-57550657
46	FECH	NM_000140.4(FECH):c.139A>G (p.Thr47Ala)	SNV	Uncertain significance	327436	rs144831860	18:55247360-55247360	18:57580128-57580128
47	FECH	NM_000140.4(FECH):c.2451_2452insG	Insertion	Uncertain significance	327377	rs1555678907	18:55215492-55215493	18:57548260-57548261
48	FECH	NM_000140.4(FECH):c.2436_2440GTTTT[2]	Microsatellite	Uncertain significance	327380	rs886053981	18:55215494-55215498	18:57548262-57548266
49	FECH	NM_000140.4(FECH):c.*5247T>C	SNV	Uncertain significance	327320	rs375220859	18:55212697-55212697	18:57545465-57545465
50	FECH	NM_000140.4(FECH):c.1287_1288insTTTA	Insertion	Uncertain significance	327397	rs59569925	18:55216656-55216657	18:57549424-57549425

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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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