Disease: Contiguous gene syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.100 Biomarker disease BEFREE Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy. 27595512 2018
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.100 GeneticVariation disease BEFREE We present the first case of TSC2/PKD1 contiguous gene syndrome in a patient with MMD along with detailed histopathologic, radiologic, and cytogenetic analyses. 28237043 2017
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.100 GeneticVariation disease BEFREE TSC2/PKD1 Contiguous Gene Syndrome deletion was suspected, being later confirmed by genetic testing. 28978585 2017
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.100 GeneticVariation disease BEFREE This case reveals that although PKD1 and TSC2 are adjacent genes and there is likely cross-talk between the PKD1 and TSC2 signalling pathways regulating mTOR, having independent TSC2 and PKD1 mutations can give rise to a milder kidney phenotype than is typical in PKD1/TSC2-CGS cases. 26077033 2015
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.100 GeneticVariation disease BEFREE Phenytoin-associated severe hypocalcemia with seizures in a patient with a TSC2-PKD1 contiguous gene syndrome. 23738537 2013
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.100 Biomarker disease BEFREE Clinical awareness and appropriate molecular investigation of TSC2/PKD1 contiguous gene syndrome is necessary in all patients with a typical phenotype of TSC in infancy, adolescence, or adult age, because of severity of the renal alterations. 19590422 2009
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.100 Biomarker disease BEFREE TSC2/PKD1 contiguous gene syndrome in an adult. 17268401 2006
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.100 GeneticVariation disease BEFREE Using fluorescence in situ hybridization and plasmid probe CW23, which spans the adjacent 3' regions of TSC2 and PKD1 genes, we identified a submicroscopic deletion on only one of the chromosomes 16p13.3, thus permitting the diagnosis of the TSC2-PKD1 contiguous gene syndrome. 15007723 2004
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.100 Biomarker disease BEFREE This disease has been termed the TSC2/PKD1 contiguous gene syndrome. 11812941 2002
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.100 Biomarker disease BEFREE A contiguous gene syndrome involving PKD1 and TSC2 should be suspected in children with TSC and enlarged polycystic kidneys at birth. 9631851 1998
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		0.100 GeneticVariation disease BEFREE Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. 7894481 1994