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: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease BEFREE In addition, we compared the frequency of the -163A highly inducible allele both in patients with symptomatic fPCT (n = 48) and in asymptomatic UROD gene mutations carrier relatives (n=54). 21929532 2012
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease UNIPROT Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. 8176248 1994
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease UNIPROT Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. 12071824 2002
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease BEFREE Porphyria cutanea tarda (PCT) is the most common human porphyria, due to hepatic deficiency of uroporphyrinogen decarboxylase (UROD), which is acquired in the presence of iron overload and various susceptibility factors, such as alcohol abuse, smoking, hepatitis C virus (HCV) infection, HIV infection, iron overload with HFE gene mutations, use of estrogens, and UROD mutation. 30683557 2019
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease BEFREE We have so far identified 50 different mutations among 4 genes associated with the most common porphyrias showing a high molecular heterogeneity: 22 in the hydroxymethylbilane synthase (HMBS) gene (AIP), 7 in the protoporphyrinogen oxidase (PPOX) gene (VP), 16 in the uroporphyrinogen decarboxylase (UROD) gene (PCT) and 5 in the ferrochelatase (FECH) gene (EPP). 12699245 2002
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease UNIPROT Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. 9792863 1998
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease BEFREE Hemochromatosis gene (HFE) mutations and the hepatitis C virus (HCV) are known risk factors for porphyria cutanea tarda (PCT), but interactions with erythrocytic uroporphyrinogen decarboxylase (UROD) have seldom been addressed. 19001803 2009
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease UNIPROT Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. 8896428 1996
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease UNIPROT Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. 2243121 1990
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease LHGDN 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 GeneticVariation disease BEFREE Porphyria cutanea tarda (PCT), the condition resulting from a deficiency of hepatic uroporphyrinogen decarboxylase activity, is the commonest form of porphyria. 7902313 1993
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease BEFREE Uroporphyrinogen decarboxylase: a splice site mutation causes the deletion of exon 6 in multiple families with porphyria cutanea tarda. 2243121 1990
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease BEFREE Recent advances in genetics and genomics have allowed DNA testing for porphyria cutanea tarda and are likely to be instrumental in developing improved, gene-based treatments and in finding genetic loci (in addition to uroporphyrinogen decarboxylase) involved in the clinical expression of this disease. 17295179 2007
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease LHGDN Human gene mutations. Gene symbol: UROD. Disease: Porphyria, cutanea tarda. 15046048 2004
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease BEFREE This is the first URO-D mutation to be characterized in a pedigree with familial PCT. 2920211 1989
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease UNIPROT Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. 1634232 1992
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease BEFREE Even though mutations in other genes also affect UROD activity and predispose to sporadic PCT, the regulation of UROD is unknown. 26317124 2015
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease UNIPROT Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. 8644733 1996
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease UNIPROT Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. 15491440 2004
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease BEFREE PCT associated with URO-D mutations is designated familial PCT. 11134514 2001
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease BEFREE Porphyria cutanea tarda (PCT), the most common of the human porphyrias, arises from a deficiency of uroporphyrinogen decarboxylase. 29856826 2018
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease UNIPROT Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase. 11719352 2001
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease BEFREE Erythrocyte UROD activity measurement and mutation analysis of the UROD gene were carried out in a cohort of 61 unrelated Spanish patients with PCT and 50 control individuals. 17627795 2007
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease UNIPROT Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP). 17240319 2007
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.900 GeneticVariation disease BEFREE Mutations of the UROD and hemochromatosis (HFE) genes are genetic factors in some PCT patients which can be mimicked in mice heterozygous for the Hfe and Urod null genes. 20099833 2010