MCID: ERY016
MIFTS: 13

Erythropoietic Protoporphyria, Autosomal Recessive

Categories: Genetic 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 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:



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

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 Top Affiliating Genes
1 protoporphyria, erythropoietic, 1 10.4
2 cholelithiasis 10.2
3 hepatitis a 10.2
4 cholestasis 10.2

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:

41
Liver, Bone, Bone Marrow

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
27943252 2017
2
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria. 4
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
28349240 2017
4
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria. 4
25615817 2016
5
Afamelanotide for Erythropoietic Protoporphyria. 4
26132941 2015
6
Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria. 4
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
23364466 2013
8
Liver transplantation for erythropoietic protoporphyria in Europe. 4
21604355 2011
9
Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics. 4
20412370 2011
10
Afamelanotide, an agonistic analog of α-melanocyte-stimulating hormone, in dermal phototoxicity of erythropoietic protoporphyria. 4
21073357 2010
11
Vitamin D deficiency in patients with erythropoietic protoporphyria. 4
24137761 2010
12
A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma. 4
20337824 2010
13
Acquired erythropoietic protoporphyria. 4
19902211 2010
14
Molecular epidemiology of erythropoietic protoporphyria in the U.K. 4
20105171 2010
15
Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone. 4
19656325 2009
16
A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma. 4
19298273 2009
17
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance. 4
18787536 2009
18
A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria. 4
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
18760763 2008
20
Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria. 4
18756472 2008
21
Serum 25-hydroxyvitamin D in erythropoietic protoporphyria. 4
18476956 2008
22
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. 4
17597821 2007
23
Symptomatic response of erythropoietic protoporphyria to iron supplementation. 4
17504727 2007
24
Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice. 4
17003376 2007
25
Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria. 4
17074841 2006
26
Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. 4
16911284 2006
27
Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18. 4
16882191 2006
28
Liver transplantation for erythropoietic protoporphyria liver disease. 4
16315313 2005
29
A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria. 4
11929053 2002
30
Benefits of chronic plasmapheresis and intravenous heme-albumin in erythropoietic protoporphyria after orthotopic liver transplantation. 4
11884947 2002
31
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH. 4
11753383 2002
32
Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. 4
11886534 2001
33
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. 4
11039124 2000
34
Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. 4
10068685 1999
35
Human protoporphyria: reduced cutaneous photosensitivity and lower erythrocyte porphyrin levels during pregnancy. 4
8996259 1997
36
The liver in protoporphyria. 4
3281889 1988
37
Fecal protoporphyrin excretion in erythropoietic protoporphyria: effect of cholestyramine and bile acid feeding. 4
3335288 1988
38
Erythropoietic Protoporphyria, Autosomal Recessive 38
23016163 2012

Variations for Erythropoietic Protoporphyria, Autosomal Recessive

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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73 UMLS via Orphanet
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