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

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:



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

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 Top Affiliating Genes
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:



Diseases related to Erythropoietic Protoporphyria, Autosomal Recessive

Symptoms & Phenotypes for Erythropoietic Protoporphyria, Autosomal Recessive

Drugs & Therapeutics for Erythropoietic Protoporphyria, Autosomal Recessive

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

Genetic Tests for Erythropoietic Protoporphyria, Autosomal Recessive

Anatomical Context for Erythropoietic Protoporphyria, Autosomal Recessive

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

40
Liver, Bone Marrow

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
11753383 2002
2
Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease. 6
17875872 2007
3
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. 6
16385445 2006
4
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 6
14669009 2004
5
Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria. 6
10942404 2000
6
Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation. 6
9649563 1998
7
Recessive inheritance of erythropoietic protoporphyria with liver failure. 6
7910885 1994
8
Molecular defect in human erythropoietic protoporphyria with fatal liver failure. 6
8500787 1993
9
A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing. 6
8481408 1993
10
A molecular defect in human protoporphyria. 6
1376018 1992
11
The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria. 6
1729699 1992
12
Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene. 6
1755842 1991
13
The effect of liver transplantation in a 13-year-old boy with erythropoietic protoporphyria. 6
3047929 1988
14
Fatal liver failure in protoporphyria. Synergism between ethanol excess and the genetic defect. 6
3940245 1986
15
Patients with erythropoietic protoporphyria have reduced erythrocyte protoporphyrin IX from early in pregnancy. 25
27943252 2017
16
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. 25
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
28349240 2017
18
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria. 25
25615817 2016
19
Afamelanotide for Erythropoietic Protoporphyria. 25
26132941 2015
20
Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria. 25
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
23364466 2013
22
Liver transplantation for erythropoietic protoporphyria in Europe. 25
21604355 2011
23
Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics. 25
20412370 2011
24
Afamelanotide, an agonistic analog of α-melanocyte-stimulating hormone, in dermal phototoxicity of erythropoietic protoporphyria. 25
21073357 2010
25
Vitamin D deficiency in patients with erythropoietic protoporphyria. 25
24137761 2010
26
A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma. 25
20337824 2010
27
Acquired erythropoietic protoporphyria. 25
19902211 2010
28
Molecular epidemiology of erythropoietic protoporphyria in the U.K. 25
20105171 2010
29
Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone. 25
19656325 2009
30
A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma. 25
19298273 2009
31
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. 25
18787536 2009
32
A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria. 25
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
18760763 2008
34
Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria. 25
18756472 2008
35
Serum 25-hydroxyvitamin D in erythropoietic protoporphyria. 25
18476956 2008
36
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. 25
17597821 2007
37
Symptomatic response of erythropoietic protoporphyria to iron supplementation. 25
17504727 2007
38
Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice. 25
17003376 2007
39
Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria. 25
17074841 2006
40
Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. 25
16911284 2006
41
Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18. 25
16882191 2006
42
Liver transplantation for erythropoietic protoporphyria liver disease. 25
16315313 2005
43
Benefits of chronic plasmapheresis and intravenous heme-albumin in erythropoietic protoporphyria after orthotopic liver transplantation. 25
11884947 2002
44
A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria. 25
11929053 2002
45
Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. 25
11886534 2001
46
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. 25
11039124 2000
47
Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. 25
10068685 1999
48
Human protoporphyria: reduced cutaneous photosensitivity and lower erythrocyte porphyrin levels during pregnancy. 25
8996259 1997
49
The liver in protoporphyria. 25
3281889 1988
50
Fecal protoporphyrin excretion in erythropoietic protoporphyria: effect of cholestyramine and bile acid feeding. 25
3335288 1988

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

Expression for Erythropoietic Protoporphyria, Autosomal Recessive

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

Pathways for Erythropoietic Protoporphyria, Autosomal Recessive

GO Terms for Erythropoietic Protoporphyria, Autosomal Recessive

Sources for Erythropoietic Protoporphyria, Autosomal Recessive

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