Hepatoerythropoietic Porphyria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hepatoerythropoietic Porphyria (HEP) is a rare autosomal recessive disease that results from homozygosity or compound heterozygosity for UROD mutations and often causes infantile or childhood onset of both erythropoietic and cutaneous manifestations.
|
30514647 |
2019 |
Hepatoerythropoietic Porphyria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we report a new mutation in the UROD gene in Egyptian patients with HEP.
|
26789143 |
2015 |
Hepatoerythropoietic Porphyria
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Excretion of porphyrins and residual UROD activity in erythrocytes were measured and compared with those of other patients with HEP.
|
21668429 |
2011 |
Hepatoerythropoietic Porphyria
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Excretion of porphyrins and residual UROD activity in erythrocytes were measured and compared with those of other patients with HEP.
|
21668429 |
2011 |
Hepatoerythropoietic Porphyria
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Hepatoerythropoietic porphyria (HEP) is a rare autosomal recessive disorder resulting from the markedly deficient, but not absent, activity of the heme biosynthetic enzyme uroporphyrinogen decarboxylase (UROD).
|
20479301 |
2010 |
Hepatoerythropoietic Porphyria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This is the first Argentinean HEP case ever described which appeared in a compound heterozygous form and less residual URO-D activity but associated to a mild phenotype.
|
19268003 |
2009 |
Hepatoerythropoietic Porphyria
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Subnormal URO-D activity results in accumulation of uroporphyrin in the liver, which ultimately mediates the photosensitivity that clinically characterizes HEP.
|
17240319 |
2007 |
Hepatoerythropoietic Porphyria
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP).
|
17240319 |
2007 |
Hepatoerythropoietic Porphyria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data confirm that homozygosity for the F46L mutation in the UROD gene causes a mild form of HEP and show that this genotype may be associated with a unique urinary porphyrin excretion pattern in which pentacarboxylic porphyrin predominates.
|
15491440 |
2004 |
Hepatoerythropoietic Porphyria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
At least 30 different mutations of the UROD gene have been identified in patients with HEP and familial porphyria cutanea tarda, with 1 predominant missense mutation (glycine-to-glutamic acid substitution at codon 281) in Spanish patients with HEP.
|
12071824 |
2002 |
Hepatoerythropoietic Porphyria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These results increase to 39 the number of mutations identified in the URO-D gene; 4 of them causing both HEP and f-PCT.
|
10980536 |
2000 |
Hepatoerythropoietic Porphyria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Morpholinos targeted to the uroporphyrinogen decarboxylase gene result in embryos with hepatoerythropoietic porphyria.
|
11017081 |
2000 |
Hepatoerythropoietic Porphyria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The two porphyrias, familial porphyria cutanea tarda (fPCT) and hepatoerythropoietic porphyria (HEP), are associated with mutations in the gene encoding the enzyme uroporphyrinogen decarboxylase (UROD).
|
10477430 |
1999 |
Hepatoerythropoietic Porphyria
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Thus, retrovirus-mediated expression of UROD was used to restore enzymatic activity in B-cell lines from 3 HEP patients.
|
10397714 |
1999 |
Hepatoerythropoietic Porphyria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here we show that the porphyric phenotype is due to an inherited homozygous mutation in the gene encoding uroporphyrinogen decarboxylase (UROD); a homozygous deficiency of this enzyme causes hepatoerythropoietic porphyria (HEP) in humans.
|
9806541 |
1998 |
Hepatoerythropoietic Porphyria
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
These observations indicate that: 1) Ery-UROD activity may not always be useful to discriminate between F-PCT and HEP; 2) Ery-UROD activity does not always correlate with clinical symptoms; 3) in inherited UROD deficiency, the genetic defect may be heterogeneous.
|
9427577 |
1998 |
Hepatoerythropoietic Porphyria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Subnormal UROD activity is due to mutations of the UROD gene in both f-PCT and HEP, but no mutations have been found in s-PCT.
|
8644733 |
1996 |
Hepatoerythropoietic Porphyria
|
0.500 |
Biomarker
|
disease |
BEFREE |
All mutations were observed in conjunction with decreased erythrocyte UROD and clinical familial porphyria cutanea tarda (fPCT), (four families) or hepatoerythropoietic porphyria (HEP), (one family).
|
8896428 |
1996 |
Hepatoerythropoietic Porphyria
|
0.500 |
Biomarker
|
disease |
BEFREE |
Immunoreactive and catalytic uroporphyrinogen decarboxylase was decreased by greater than 95% in the five patients with hepatoerythropoietic porphyria.
|
7706766 |
1995 |
Hepatoerythropoietic Porphyria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hepatoerythropoietic porphyria (HEP) is a rare, autosomal recessive disorder due to deficient uroporphyrinogen decarboxylase enzyme activity.
|
7971555 |
1994 |
Hepatoerythropoietic Porphyria
|
0.500 |
Biomarker
|
disease |
BEFREE |
Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.
|
8176248 |
1994 |
Hepatoerythropoietic Porphyria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.
|
1634232 |
1992 |
Hepatoerythropoietic Porphyria
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
A deficiency in the activity of uroporphyrinogen decarboxylase (URO-D), the fifth enzyme of the haem biosynthetic pathway, is found in two hereditary diseases, familial porphyria cutanea tarda (PCT) and hepatoerythropoietic porphyria (HEP).
|
1905636 |
1991 |
Hepatoerythropoietic Porphyria
|
0.500 |
Biomarker
|
disease |
BEFREE |
Catalytic and immunoreactive erythrocyte uroporphyrinogen decarboxylase was measured in a woman with hepatoerythropoietic porphyria (HEP).
|
2322500 |
1990 |
Hepatoerythropoietic Porphyria
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two types of human porphyria, porphyria cutanea tarda (PCT) and hepatoerythropoietic porphyria (HEP), result from partial deficiency of uroporphyrinogen decarboxylase (UROD).
|
2786774 |
1989 |