UROD, uroporphyrinogen decarboxylase, 7389

N. diseases: 166; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162569
Disease: Hepatoerythropoietic Porphyria
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
CUI: C0162569
Disease: Hepatoerythropoietic Porphyria
Hepatoerythropoietic Porphyria 		0.500 GermlineCausalMutation disease ORPHANET Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP). 17240319 2007
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 CausalMutation disease CLINVAR
CUI: C0162569
Disease: Hepatoerythropoietic Porphyria
Hepatoerythropoietic Porphyria 		0.500 CausalMutation disease CLINVAR
CUI: C0268323
Disease: Familial porphyria cutanea tarda
Familial porphyria cutanea tarda 		0.200 CausalMutation disease CLINVAR Familial and sporadic porphyria cutanea tarda: characterization and diagnostic strategies. 19233912 2009
CUI: C0268323
Disease: Familial porphyria cutanea tarda
Familial porphyria cutanea tarda 		0.200 CausalMutation disease CLINVAR Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation. 23545314 2013
CUI: C1867968
Disease: Porphyria Cutanea Tarda, Type I
Porphyria Cutanea Tarda, Type I 		0.110 CausalMutation disease CLINVAR
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE Erythrocyte uroporphyrinogen decarboxylase activity in 80 unrelated patients with porphyria cutanea tarda. 1610684 1992
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE UROD activity has a high diagnostic accuracy for differentiating the 2 PCT types, and a model that takes into account both clinical information and laboratory test results can be used to predict fPCT. 19233912 2009
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE Porphyria cutanea tarda (PCT) is a skin disease that results from decreased activity of uroporphyrinogen decarboxylase (UROD). 9516680 1998
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE Porphyria cutanea tarda in human beings is believed to be due to reduced hepatic uroporphyrinogen decarboxylase activity. 1359994 1992
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE Uroporphyrinogen decarboxylase activity was measured in hemoglobin-free lysates from two patients with hepatoerythropoietic porphyria (HEP) and from 12 unrelated patients with familial porphyria cutanea tarda (PCT). 6375356 1984
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE Forty-four patients (37%) had decreased UROD activity and were classified as familial-PCT. 12699242 2002
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE Patients with porphyria cutanea tarda (PCT) have a susceptibility to reversible inactivation of hepatocyte uroporphyrinogen decarboxylase, which can be triggered by alcohol, hepatitis C virus, and other agents. 11499833 2001
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE Mild to moderate iron overload is common in PCT, as iron is one of the factors which trigger the clinical manifestations of the disease through the inactivation of URO-D. A role for genetic hemochromatosis in the development of iron overload in sporadic PCT has been hypothesized in the past. 9425935 1998
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE Porphyria cutanea tarda (PCT) results from a decreased activity of uroporphyrinogen decarboxylase, the fifth enzyme in heme biosynthesis. 15186324 2004
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE With the erythrocyte assay, multiple examples of decreased uroporphyrinogen decarboxylase activity were detected in members of three families of patients with porphyria cutanea tarda. 993332 1976
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE Porphyria cutanea tarda (PCT) results from decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. 23545314 2013
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE Besides the epidemiological relevance of the association between PCT and hemochromatosis, however, it remains to be fully understood how iron overload, and in particular the cellular modifications of the iron status secondary to hemochromatosis mutations, affect the activity of URO-D, and how the altered iron metabolism interacts with the other two common triggers for PCT and etiological agents for the associated liver disease: alcohol and hepatitis viruses. 10189391 1999
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE The aim of the present work was to establish the relative frequencies of the symptomatic and hereditary forms by the determination of the URO-D enzyme in the PCT patients who were regularly treated at the Centre for Porphyrins in our Institute. 1358034 1992
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE Porphyria cutanea tarda (PCT) is associated in most cases with iron overload, which may participate in decreased activity of uroporphyrinogen decarboxylase in the liver. 11260010 2001
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE Porphyria cutanea tarda (PCT) results from decreased activity of hepatic uroporphyrinogen decarboxylase (UROD). 20163457 2010
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE Porphyria cutanea tarda (PCT) is the only porphyria that has both genetic and/or environmental factors that lead to reduced activity of uroporphyrinogen decarboxylase in the liver. 31326287 2019
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE After identifying the porphyria cutanea tarda by urine analysis we found that the serum activity of uroporphyrinogen decarboxylase (UROD) was normal, meaning a partial inactivation of UROD in liver tissue due to external factors. 16990695 2006
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 AlteredExpression disease BEFREE Two patients with excessive excretion of uroporphyrins or characteristic chromatograms, or both, and decreased uroporphyrinogen decarboxylase activity were classified as having subclinical porphyria cutanea tarda, and two with decreased uroporphyrinogen decarboxylase activity only were classified as having latent porphyria cutanea tarda. 622106 1978