ADAMTSL4, ADAMTS like 4, 54507

N. diseases: 39; N. variants: 9
Disease: Ectopia Lentis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 GeneticVariation disease BEFREE The authors describe a 4-year-old girl with isolated ectopia lentis et pupillae caused by pathogenic variants in the ADAMTSL4 gene and discuss the molecular genetic work-up of individuals with ectopia lentis.[J Pediatr Ophthalmol Strabismus.2019;56:e45-e48.]. 31282960 2019
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 GeneticVariation disease BEFREE A recurrent pathogenic ADAMTSL4 variant is a major cause of early onset autosomal recessive EL in a Cook Island Māori population and associated with a common haplotype, suggesting a founder effect. 28394649 2017
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 GeneticVariation disease BEFREE Furthermore, we provide an overview of currently described mutations in ADAMTSL4, the main gene involved in isolated EL. 28642162 2017
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 CausalMutation disease CLINVAR NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. 28642162 2017
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 GeneticVariation disease BEFREE A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin. 26653794 2016
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 Biomarker disease BEFREE In summary, the Adamtsl4(tvrm267) model provides a valuable tool to further elucidate the molecular basis of zonule formation, the pathophysiology of EL and ADAMTSL4 function in the maintenance of the RPE. 26405179 2015
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 CausalMutation disease CLINVAR A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. 21051722 2011
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 CausalMutation disease CLINVAR A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 20702823 2010
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 GeneticVariation disease BEFREE The identification of a causative mutation in ADAMTSL4 may allow the exclusion of Marfan syndrome in these families and guide the clinical management, of particular relevance in young children affected by EL. 20564469 2010
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 GeneticVariation disease BEFREE Herein we show a consanguineous family that carries a novel homozygous splice mutation IVS4-1G>A/IVS4-1G>A in ADAMTSL4 responsible for isolated autosomal recessive EL, thus confirming the involvement of this gene in this condition and underlining the major role of ADAMTS proteases in zonular fibers homeostasis. 20141359 2010
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 CausalMutation disease CLINVAR Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 20564469 2010
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 GeneticVariation disease LHGDN We conclude that mutations in ADAMTSL4 are responsible for autosomal-recessive simple ectopia lentis and that ADAMTS-like4 plays a role in the development and/or integrity of the zonular fibers. 19200529 2009
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 Biomarker disease HPO
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis 		0.480 GermlineCausalMutation disease ORPHANET