PYCR1, pyrroline-5-carboxylate reductase 1, 5831

N. diseases: 126; N. variants: 12
Disease: Geroderma osteodysplastica ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.320 Biomarker disease BEFREE Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar clinical features, complicating accurate diagnosis. 28294978 2017
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.320 GermlineCausalMutation disease ORPHANET Here we describe 33 patients with PYCR1-related ARCL from 27 families with initial diagnoses varying between wrinkly skin syndrome, gerodermia osteodysplastica, De Barsy syndrome or more severe progeria syndromes. 24035636 2013
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.320 GermlineCausalMutation disease ORPHANET In conclusion, the phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than ARCL2B. 21204221 2011
CUI: C0432255
Disease: Geroderma osteodysplastica
Geroderma osteodysplastica 		0.320 GeneticVariation disease BEFREE In conclusion, the phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than ARCL2B. 21204221 2011