FRRS1L, ferric chelate reductase 1 like, 23732

N. diseases: 60; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.120 GeneticVariation disease BEFREE Loss-of-function mutations in a human AMPA receptor-associated protein, ferric chelate reductase 1-like (FRRS1L), are associated with a devastating neurological condition incorporating choreoathetosis, cognitive deficits and epileptic encephalopathies. 30692144 2019
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.120 GeneticVariation disease BEFREE We describe a neurological disorder with epilepsy and prominent choreoathetosis caused by biallelic pathogenic variants in FRRS1L, which encodes an AMPA receptor outer-core protein. 27236917 2016
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 GeneticVariation disease BEFREE Bi-allelic mutations in the human FRRS1L gene are shown to cause severe intellectual disability with cognitive impairment, speech delay and epileptic activity. 28675162 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.020 GeneticVariation disease BEFREE We describe a neurological disorder with epilepsy and prominent choreoathetosis caused by biallelic pathogenic variants in FRRS1L, which encodes an AMPA receptor outer-core protein. 27236917 2016
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.020 GeneticVariation disease BEFREE Recent proteomic studies have identified that Ferric Chelate Reductase 1 Like protein (FRRS1L), whose mutations in human lead to epilepsy, choreoathetosis, and cognitive deficits, is present in native AMPAR complexes in the brain. 29276473 2017
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.020 GeneticVariation group BEFREE Loss-of-function mutations in a human AMPA receptor-associated protein, ferric chelate reductase 1-like (FRRS1L), are associated with a devastating neurological condition incorporating choreoathetosis, cognitive deficits and epileptic encephalopathies. 30692144 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.020 GeneticVariation group BEFREE Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 GeneticVariation disease BEFREE Bi-allelic mutations in the human FRRS1L gene are shown to cause severe intellectual disability with cognitive impairment, speech delay and epileptic activity. 28675162 2017
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.020 GeneticVariation disease BEFREE Loss-of-function mutations in a human AMPA receptor-associated protein, ferric chelate reductase 1-like (FRRS1L), are associated with a devastating neurological condition incorporating choreoathetosis, cognitive deficits and epileptic encephalopathies. 30692144 2019
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 GeneticVariation group BEFREE Loss-of-function mutations in a human AMPA receptor-associated protein, ferric chelate reductase 1-like (FRRS1L), are associated with a devastating neurological condition incorporating choreoathetosis, cognitive deficits and epileptic encephalopathies. 30692144 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 Biomarker group BEFREE Loss of FRRS1L function attenuates AMPA-mediated currents, implicating chronic abnormalities of glutamatergic neurotransmission in this monogenic neurological disease of childhood. 27236917 2016
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.010 GeneticVariation disease BEFREE Bi-allelic mutations in the human FRRS1L gene are shown to cause severe intellectual disability with cognitive impairment, speech delay and epileptic activity. 28675162 2017
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.010 Biomarker disease BEFREE Overall, this study determines, for the first time <i>in vivo</i>, how loss of FRRS1L function can affect glutamatergic signalling, and provides mechanistic insight into the development and progression of a human hyperkinetic disorder.This article has an associated First Person interview with the first author of the paper. 30692144 2019
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.600 CausalMutation disease CLINVAR Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability. 30525197 2019
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.600 CausalMutation disease CLINVAR Epileptic encephalopathy with continuous spike-and-wave during sleep maps to a homozygous truncating mutation in AMPA receptor component FRRS1L. 27239025 2016
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.600 GeneticVariation disease CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.600 CausalMutation disease CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
CUI: C0008489
Disease: Chorea
Chorea 		0.100 CausalMutation phenotype CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation phenotype CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
CUI: C1838578
Disease: Progressive encephalopathy
Progressive encephalopathy 		0.100 CausalMutation phenotype CLINVAR Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 27236917 2016
CUI: C4310770
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37 		0.600 Biomarker disease CTD_human
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		0.120 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.110 Biomarker disease HPO
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO