PYCR1, pyrroline-5-carboxylate reductase 1, 5831

N. diseases: 126; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.750 GeneticVariation disease BEFREE Mutations in the PYCR1 gene cause cutis laxa with progeroid features and mental retardation. 27796797 2017
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.750 Biomarker disease GENOMICS_ENGLAND Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. 28294978 2017
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.750 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.750 Biomarker disease GENOMICS_ENGLAND Congenital Cutis Laxa Type 2 Associated With Recurrent Aspiration Pneumonia and Growth Delay: Case Report. 26516448 2015
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.750 GeneticVariation disease BEFREE Recently, PYCR1 mutations were identified in cutis laxa with progeroid features. 22052856 2011
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.750 GeneticVariation disease BEFREE Recently, mutations in PYCR1 have been linked to cutis laxa with progeroid features. 21567914 2011
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.750 GeneticVariation disease BEFREE In conclusion, the phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than ARCL2B. 21204221 2011
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.750 GeneticVariation disease UNIPROT Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.750 GeneticVariation disease BEFREE Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.750 GeneticVariation disease UNIPROT Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. 19576563 2009
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.750 GermlineCausalMutation disease ORPHANET Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2. 19576563 2009
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.750 Biomarker disease GENOMICS_ENGLAND Gerodermia osteodysplastica and wrinkly skin syndrome: are they the same? 11424136 2001
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.750 CausalMutation disease CLINVAR
CUI: C2751987
Disease: Cutis Laxa, Autosomal Recessive, Type IIB
Cutis Laxa, Autosomal Recessive, Type IIB 		0.750 Biomarker disease CTD_human
CUI: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.700 Biomarker disease GENOMICS_ENGLAND Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. 28294978 2017
CUI: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.700 GeneticVariation disease UNIPROT Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. 22052856 2011
CUI: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.700 GermlineCausalMutation disease ORPHANET Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome. 22052856 2011
CUI: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.700 GeneticVariation disease UNIPROT Mutations in PYCR1 cause cutis laxa with progeroid features. 19648921 2009
CUI: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.700 Biomarker disease CTD_human
CUI: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.700 CausalMutation disease CLINVAR
CUI: C3280799
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.660 GeneticVariation disease BEFREE Clinical data pointed out that homozygotic or heterozygotic mutation in the pyrroline-5-carboxylate reductase 1 (<i>PYCR1</i>) gene in humans caused cutis laxa (ARCL) disease, with progeroid appearance, lax and wrinkled skin, joint laxity, osteopenia, and mental retardation phenotypes. 31091804 2019
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.660 GeneticVariation disease BEFREE Our study provides novel insight into the deleterious effects of the R119G and G206W mutations on P5CR, and sheds light on the mechanisms by which these mutations mediate Cutis Laxa. 27677826 2017
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		0.660 GeneticVariation 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