C1QTNF5, C1q and TNF related 5, 114902

N. diseases: 45; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 Biomarker disease BEFREE These results implicate HTRA1 and its interaction with CTRP5 in L-ORD pathology. 31385385 2019
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 GeneticVariation disease BEFREE The pathogenic mutation S163R in C1QTNF5 causes a disorder known as autosomal dominant late-onset retinal degeneration (L-ORD), characterized by the presence of thick extracellular sub-RPE deposits, similar histopathologically to those found in AMD patients. 29721928 2018
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 Biomarker disease BEFREE The function of C1QTNF5 remains unclear but this new insight into the pathogenetic basis of L-ORD has implications for future therapeutic strategies such as gene augmentation therapy. 28939808 2017
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 GeneticVariation disease BEFREE The gene that encodes C1q/TNF-related protein 5 (CTRP5), a secreted protein of the C1q family, is mutated in individuals with late-onset retinal degeneration. 27143553 2016
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 GeneticVariation disease BEFREE Given the phenotypic overlap between diffuse-trickling and late-onset retinal degeneration (LORD), all C1QTNF5 exons and their exon/intron boundaries were sequenced. 27149696 2016
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 GeneticVariation disease BEFREE Two additional mutations linked to different forms of retinal dystrophies were identified in two families: a known frameshift deletion in RPGR, a gene responsible for X-linked retinitis pigmentosa and p.Ser163Arg in C1QTNF5 associated with Late-Onset Retinal Degeneration. 26197217 2015
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 GeneticVariation disease BEFREE Mouse lines carrying the Ctrp5 S163R and rd8 mutations (Ctrp5+/-;rd8/rd8), corresponding controls without the rd8 mutation (Ctrp5+/-;wt/wt), and wild-type mice with and without the rd8 mutation (Wtrd8/rd8 and Wtwt/wt, respectively) were generated by systematic breeding of mice in our L-ORD mouse colony. 25814825 2015
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 GeneticVariation disease BEFREE Patients with Best macular dystrophy (BMD), Doyne honeycomb retinal dystrophy (DHRD), Sorsby fundus dystrophy (SFD), or late-onset retinal degeneration (LORD) were screened for mutations in BEST1, EFEMP1, TIMP3, and CTRP5, respectively. 25082885 2014
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 GeneticVariation disease BEFREE C1QTNF5 retinopathy is an autosomal dominant LORD resulting in a complex ocular phenotype involving the RPE and ciliary epithelium. 23289492 2013
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 Biomarker disease BEFREE The characterization of retinal phenotype in a family with C1QTNF5-related late-onset retinal degeneration. 22277927 2012
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 GeneticVariation disease UNIPROT Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration. 22892318 2012
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 Biomarker disease MGD The Ctrp5(+/-) mice, which have most of the pathological features of age-related macular degeneration, are unique and may serve as a valuable model both to understand the molecular pathology of late-onset retinal degeneration and to evaluate therapies. 21349921 2011
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 Biomarker disease BEFREE Understanding the regulation of CTRP5 gene transcription may provide insights into the possible role of CTRP5 in the retina and the pathology underlying late-onset retinal degeneration caused by mutations in this gene. 20554618 2010
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 GeneticVariation disease BEFREE Here we show that L-ORD is genetically heterogeneous and that a proposed founder mutation in the CTRP5 (C1QTNF5) gene, which encodes a novel short-chain collagen, changes a highly conserved serine to arginine (Ser163Arg) in 7/14 L-ORD families and 0/1000 control individuals. 12944416 2003
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 GeneticVariation disease UNIPROT Here we show that L-ORD is genetically heterogeneous and that a proposed founder mutation in the CTRP5 (C1QTNF5) gene, which encodes a novel short-chain collagen, changes a highly conserved serine to arginine (Ser163Arg) in 7/14 L-ORD families and 0/1000 control individuals. 12944416 2003
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 GermlineCausalMutation disease ORPHANET Here we show that L-ORD is genetically heterogeneous and that a proposed founder mutation in the CTRP5 (C1QTNF5) gene, which encodes a novel short-chain collagen, changes a highly conserved serine to arginine (Ser163Arg) in 7/14 L-ORD families and 0/1000 control individuals. 12944416 2003
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 GeneticVariation disease CLINVAR
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 CausalMutation disease CLINVAR
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C1854065
Disease: LATE-ONSET RETINAL DEGENERATION (disorder)
LATE-ONSET RETINAL DEGENERATION (disorder) 		1.000 Biomarker disease CTD_human
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		0.420 Biomarker phenotype LHGDN Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration. 17249553 2006
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		0.420 Biomarker phenotype LHGDN Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. 12944416 2003
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		0.420 Biomarker phenotype HPO
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		0.420 Biomarker phenotype GENOMICS_ENGLAND