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 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 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 Biomarker disease BEFREE Congenital erythropoietic porphyria (CEP) is a rare disease characterized by erosive photosensitivity and chronic hemolysis due to a defect of the enzyme uroporphyrinogen-III-synthase (UROS). 31843562 2019
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 BEFREE CEP is caused by mutations in the uroporphyrinogen synthase (UROS) gene. 30685241 2019
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 AlteredExpression disease BEFREE Congenital erythropoietic porphyria is a rare autosomal recessive disease produced by deficient activity of uroporphyrinogen III synthase, the fourth enzyme in the heme biosynthetic pathway. 30232228 2018
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 Biomarker disease BEFREE Finally, we show evidence that abnormal protein homeostasis is a prevalent mechanism responsible for UROS deficiency and that modulators of UROS proteolysis such as proteasome inhibitors or chemical chaperones may represent an attractive therapeutic option to reduce porphyrin accumulation and prevent skin photosensitivity in CEP patients when the genotype includes a missense variant. 28334762 2017
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 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease BEFREE In a few patients, a late-onset CEP-like phenotype without UROS mutations appears to be associated with a myelodysplastic syndrome. 27086902 2016
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 AlteredExpression disease BEFREE Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder of heme synthesis characterized by reduced activity of uroporphyrinogen III synthase and the accumulation of nonphysiologic isomer I porphyrin metabolites, resulting in ineffective erythropoiesis and devastating skin photosensitivity. 25972160 2015
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 Biomarker disease BEFREE Congenital erythropoietic porphyria (CEP), or Günther's disease, is an inborn error of metabolism produced by a deficiency of uroporphyrinogen III synthase (UROS), the fourth enzyme of the heme biosynthesis pathway. 23557135 2014
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 AlteredExpression disease BEFREE Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria. 24925316 2014
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 Biomarker disease BEFREE These results of medical importance pave the way for pharmacologic treatment of CEP disease by preventing certain enzymatically active UROS mutants from early degradation by using proteasome inhibitors or chemical chaperones. 24145442 2013
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 Biomarker disease BEFREE Gene correction of CEP-derived iPSCs was obtained by lentiviral transduction of a therapeutic vector containing UROS cDNA under the control of an erythroid-specific promoter shielded by insulators. 22795135 2012
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 Biomarker disease BEFREE 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 BEFREE The lack of consistent genotype-phenotype correlation in CEP suggests a contribution to phenotype from other factors, such as environment, patients' photoprotective behaviour and genes other than UROS. 22816431 2012
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 CausalMutation disease CLINVAR Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R. 21343304 2011
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 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 AlteredExpression disease BEFREE Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder due to the deficient activity of uroporphyrinogen III synthase (UROS). 21365124 2011
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 CausalMutation disease CLINVAR Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes. 21365124 2011
CUI: C0162530
Disease: Porphyria, Erythropoietic
Porphyria, Erythropoietic 		1.000 GeneticVariation disease BEFREE Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: molecular basis of congenital erythropoietic porphyria. 21570665 2011