ADAMTSL4, ADAMTS like 4, 54507

N. diseases: 39; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.800 Biomarker disease MGD Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation. 26405179 2015
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.800 CausalMutation disease CLINVAR ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description. 25975359 2015
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.800 CausalMutation disease CLINVAR Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4. 22871183 2013
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.800 CausalMutation disease CLINVAR A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. 22736615 2012
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.800 CausalMutation disease CLINVAR A homozygous microdeletion within ADAMTSL4 in patients with isolated ectopia lentis: evidence of a founder mutation. 21051722 2011
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.800 CausalMutation disease CLINVAR A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 20702823 2010
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.800 Biomarker disease GENOMICS_ENGLAND A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 20702823 2010
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.800 CausalMutation disease CLINVAR Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients. 20564469 2010
CUI: C3541474
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE 		0.800 Biomarker disease CTD_human
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		0.620 GeneticVariation disease BEFREE ADAMTSL4 mutations cause autosomal recessive isolated ectopia lentis (IEL) and ectopia lentis et pupillae. 21989719 2012
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		0.620 GeneticVariation disease BEFREE A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 20702823 2010
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		0.620 Biomarker disease GENOMICS_ENGLAND A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 20702823 2010
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		0.620 Biomarker disease GENOMICS_ENGLAND A novel ADAMTSL4 mutation in autosomal recessive ectopia lentis et pupillae. 20702823 2010
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		0.620 Biomarker disease CTD_human
CUI: C1644196
Disease: Ectopia Lentis with Ectopia of Pupil
Ectopia Lentis with Ectopia of Pupil 		0.620 CausalMutation disease CLINVAR
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