RIEG2, Rieger syndrome 2, 6012

N. diseases: 38; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025221
Disease: Meleda Disease
Meleda Disease
0.050 GeneticVariation disease BEFREE We report here a Tunisian family with three siblings presenting with recessive transgressive PPK closely resembling the MDM phenotype that excludes linkage to the ARS gene. 16865292 2006
CUI: C0025221
Disease: Meleda Disease
Meleda Disease
0.050 GeneticVariation disease BEFREE Mal de Meleda (MDM) is a rare form of recessive transgressive palmoplantar erythrokeratoderma for which mutations in the ARS gene have been identified recently. 15909066 2005
CUI: C0025221
Disease: Meleda Disease
Meleda Disease
0.050 GeneticVariation disease BEFREE These findings support the notion that mutations in the ARS gene are pathogenic in mal de Meleda. 12535203 2003
CUI: C0025221
Disease: Meleda Disease
Meleda Disease
0.050 Biomarker disease BEFREE The results suggest that the ARS gene is likely to be responsible for MDM in the eight Tunisian families. 14674887 2003
CUI: C0025221
Disease: Meleda Disease
Meleda Disease
0.050 GeneticVariation disease BEFREE Here we report a patient suffering from Mal de Meleda not associated with ARS mutations. 11872406 2002