UROD, uroporphyrinogen decarboxylase, 7389

N. diseases: 166; N. variants: 31
Disease: Russell-Silver syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. 30242100 2019
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE Patients 1 to 3 and 4 were identified through UPD(20)mat screening for 55 patients with etiology-unknown SRS and 96 patients with SGA-SS, respectively. 29878129 2018
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 GeneticVariation disease BEFREE Although almost half of the patients showed DNA hypomethylation at the H19/IGF2 imprinted domain, and approximately 7%-10% of SRS patients have maternal uniparental disomy of chromosome 7 (UPD (7) mat); the rest of the SRS patients shows unknown etiology. 28624953 2017
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE Silver-Russell syndrome (SRS) is a growth retardation syndrome in which loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 [UPD(7)mat] explain 20-60% and 10% of the syndrome, respectively. 29146936 2017
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 GeneticVariation disease BEFREE The results indicate the occurrence of epimutation affecting the IG-DMR and the MEG3-DMR in the two cases, and imply that UPD(14)mat and related (epi)genetic aberrations constitute a rare but important underlying factor for SRS. 25351781 2015
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE Our observation strengthens the hypothesis that the phenotype observed in patients with SRS with UPD(7)m might also result from an undetected low level of trisomy 7 mosaicism that could best be revealed by performing cytogenetic investigations. 25015868 2014
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE A possible explanation is that the autism is not a part of SRS but is due to the UPD. 21752678 2012
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 GeneticVariation disease BEFREE However, an unambiguous (epi)genotype-phenotype correlation can not be delineated.We therefore suggest a diagnostic algorithm focused on the 11p15 hypomethylation, UPD(7)mat and cryptic chromosomal imbalances for patients with typical SRS phenotype, but also with milder clinical signs only reminiscent for the disease. 20573229 2010
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE Maternal UPD of chromosome 7 is associated with pre- and postnatal growth retardation (IUGR, PNGR) and Silver-Russell syndrome (SRS [MIM 180860]). 11718568 2001
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE Although partial UPD has previously been reported for chromosomes 6, 11, 14, and 15, this is the first report of a patient with SRS who has segmental matUPD7. 11112662 2001
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 Biomarker disease BEFREE 47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region. 10227403 1999
CUI: C0175693
Disease: Russell-Silver syndrome
Russell-Silver syndrome 		0.100 GeneticVariation disease BEFREE It is suggested to search for UPD 7 in families with an offspring with sporadic Silver-Russell syndrome or primordial growth retardation. 7633407 1995