UROS, uroporphyrinogen III synthase, 7390

N. diseases: 58; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease BEFREE CEP is inherited as autosomal recessive or X-linked trait due to mutations in UROS or GATA1 genes; however an involvement of other causative or modifier genes cannot be ruled out. 26969896 2016
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease UNIPROT We have previously described two missense mutations in the UROIIIS gene, confirming that the primary defect responsible for CEP is a structural alteration of this gene. 1733834 1992
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease BEFREE These are the first mutations to be recognized in the uroporphyrinogen III synthase gene from congenital erythropoietic porphyria patients. 2331520 1990
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease BEFREE A KI model of CEP due to a missense mutation of UROS gene present in human has been developed on 3 congenic mouse strains (BALB/c, C57BL/6, and 129/Sv) in order to study the impact of genetic background on disease severity. 31601421 2019
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease BEFREE In 3 families with autosomal recessive congenital erythropoietic porphyria (CEP) resulting from uroporphyrinogen III synthase (URO-synthase) deficiency, sequencing the promoter, all 10 exons and the intron/exon boundaries did not detect a mutation. 19965637 2010
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease UNIPROT Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family. 9188670 1997
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease UNIPROT Molecular analysis of the URO-synthase gene in seven unrelated CEP patients revealed eight novel mutations. 12060141 2002
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease BEFREE They include autosomal recessive Congenital Erythropoietic Porphyria (CEP) due to loss-of-function (LOF) mutations in the Uroporphyrinogen III Synthase (UROS) gene, Erythropoietic Protoporphyria (EPP) due to LOF mutations in the ferrochelatase (FECH) gene, and X-Linked Protoporphyria (XLP) due to gain-of-function mutations in the terminal exon of the Aminolevulinic Acid Synthase 2 (ALAS2) gene. 30454868 2019
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease BEFREE The intracellularly recovered C73R-UROIIIS protein shows enzymatic activity, paving the way for a new line of therapeutic intervention in CEP patients. 21343304 2011
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease BEFREE Identification of uroporphyrinogen III synthase (UROIIIS) gene mutations in patients with congenital erythropoietic porphyria (CEP) allows fast and reliable carrier detection and prenatal diagnosis. 8821859 1996
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease UNIPROT Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. 7860775 1995
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease BEFREE Mutations in the uroporphyrinogen III synthase (UROS) gene cause congenital erythropoietic porphyria (CEP), an autosomal-recessive inborn error of erythroid heme biosynthesis. 21653323 2011
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease UNIPROT Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling. 15304101 2004
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease UNIPROT Congenital erythropoietic porphyria (CEP) is the rarest autosomal recessive porphyria resulting from a deficiency of uroporphyrinogen III cosynthase (UROS), the fourth enzyme in heme biosynthesis. 22350154 2012
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease UNIPROT CEP is a rare, recessively inherited disorder, and mutations in the UROIIIS gene detected in CEP patients are heterogeneous. 9803266 1998
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease BEFREE Here we use Cas9 nuclease-induced double-strand break DNA (DSB) at the UROS locus to model and correct congenital erythropoietic porphyria. 30850590 2019
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease UNIPROT To investigate this phenotypic heterogeneity, exonic point mutations in the URO-synthase gene were identified in unrelated CEP patients. 1737856 1992
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease BEFREE Our study supports the hypothesis that CEP in cattle is caused by a mutation affecting UROS; however, additional functional studies are needed to identify the causative mutation. 22404357 2012
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease BEFREE CEP is caused by mutations in the uroporphyrinogen synthase (UROS) gene. 30685241 2019
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease UNIPROT The long-term biochemical and clinical effectiveness of allogenic bone marrow transplantation (BMT) was shown in a severely affected, transfusion-dependent 18-month-old female with congenital erythropoietic porphyria (CEP), an autosomal recessive inborn error of heme biosynthesis resulting from mutations in the uroporphyrinogen III synthase (URO-synthase) gene. 9834209 1998
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease LHGDN The integrated analysis of the enzymatic activity and kinetic stability data is used to gain insight in the relationship between defects in UROIIIS sequence and CEP. 19099412 2009
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease UNIPROT These are the first mutations to be recognized in the uroporphyrinogen III synthase gene from congenital erythropoietic porphyria patients. 2331520 1990
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease BEFREE This work describes the analysis of UROIIIS gene mutations in 10 new families with CEP and summarizes the data from 20 unrelated families studied in our laboratory. 8946173 1996
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease UNIPROT A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family. 8655129 1996
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease BEFREE CEP is a rare, recessively inherited disorder, and mutations in the UROIIIS gene detected in CEP patients are heterogeneous. 9803266 1998