SCARB2, scavenger receptor class B member 2, 950

N. diseases: 103; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 GeneticVariation disease BEFREE Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features. 22032306 2011
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 Biomarker disease BEFREE A literature review revealed that mutations in the different functional domains of SCARB2 appear to be associated with the phenotype of EPM4. 29941711 2018
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in SCARB2 were recently described as causing action myoclonus renal failure syndrome (AMRF). 19847901 2009
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 Biomarker disease BEFREE In humans, LIMP-2 deficiency leads to action myoclonus-renal failure (AMRF) syndrome. 26018676 2015
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 GeneticVariation disease BEFREE Our patients with SCARB2 mutations showed the clinical and neurophysiologic phenotype of PME, in which epilepsy could be extremely severe, extending the spectrum reported in the typical AMRF syndrome. 22050460 2011
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 Biomarker disease BEFREE SCARB2/LIMP2 deficiency in action myoclonus-renal failure syndrome. 27582254 2016
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 GeneticVariation disease BEFREE We describe clinically two sisters with AMRF that resulted from a mutation in the SCARB2 gene. 21782476 2011
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 GeneticVariation disease BEFREE Action myoclonus renal failure (AMRF) syndrome is a rare form of progressive myoclonus epilepsy with renal dysfunction related to mutations in the SCARB2 gene. 24485911 2014
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 GeneticVariation disease BEFREE In contrast to the reduced binding properties of the nonsense mutations, the only missense mutation (H363N) found in AMRF leads to increased binding of beta-GC to LIMP-2, indicating that this highly conserved histidine modifies the affinity of LIMP-2 to its ligand. 19933215 2010
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the SCARB2 gene cause a rare autosomal recessive disease, progressive myoclonus epilepsy (PME) with or without renal failure, the former also being designated action myoclonus-renal failure syndrome. 23659519 2014
CUI: C0751779
Disease: Action Myoclonus-Renal Failure Syndrome
Action Myoclonus-Renal Failure Syndrome 		0.800 GeneticVariation disease BEFREE Mutations in SCARB2/Limp2 were found in all three families used for mapping and subsequently confirmed in two other unrelated AMRF families. 18308289 2008
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.400 GeneticVariation disease BEFREE Mutations in SCARB2 have also been identified as the cause of action myoclonus renal failure (AMRF), and in some cases progressive myoclonic epilepsy. 24389070 2014
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.400 GeneticVariation disease BEFREE Action myoclonus-renal failure syndrome (AMRF) is an autosomal recessive progressive myoclonus epilepsy (PME) associated with renal dysfunction that appears in the second or third decade of life and that is caused by loss-of-function mutations in the SCARB2 gene encoding lysosomal integral membrane protein type 2 (LIMP2). 27582254 2016
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.400 GeneticVariation disease BEFREE A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. 18424452 2008
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.400 GeneticVariation disease BEFREE Progressive myoclonus epilepsy without renal failure in a Chinese family with a novel mutation in SCARB2 gene and literature review. 29605618 2018
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.400 GeneticVariation disease BEFREE We hypothesized that mutations in SCARB2 might account for unsolved cases of progressive myoclonus epilepsy (PME) without renal impairment, especially those resembling Unverricht-Lundborg disease (ULD). 19847901 2009
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.400 GeneticVariation disease BEFREE Progressive myoclonus epilepsy: extraneuronal brown pigment deposition and system neurodegeneration in the brains of Japanese patients with novel SCARB2 mutations. 23659519 2014
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.400 GeneticVariation disease BEFREE Mutations of the SCARB2 gene cause action myoclonus renal failure syndrome (AMRF), a rare condition that combines progressive myoclonus epilepsy (PME) with severe renal dysfunction. 22050460 2011
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.400 GeneticVariation disease BEFREE A deficiency of human LIMP-2, a receptor for lysosomal mannose 6-phosphate-independent targeting of the beta-glucosidase (betaGC), due to mutations in the SCARB2 gene was described only in six families presented with progressive myoclonic epilepsy and nephrotic syndrome. 19454373 2009
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.400 GeneticVariation disease BEFREE A novel SCARB2 mutation in progressive myoclonus epilepsy indicated by reduced β-glucocerebrosidase activity. 24485911 2014
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
Myoclonic Epilepsies, Progressive 		0.400 GeneticVariation disease BEFREE Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy. 21670406 2011
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		0.390 GeneticVariation disease BEFREE A deficiency of human LIMP-2, a receptor for lysosomal mannose 6-phosphate-independent targeting of the beta-glucosidase (betaGC), due to mutations in the SCARB2 gene was described only in six families presented with progressive myoclonic epilepsy and nephrotic syndrome. 19454373 2009
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		0.390 GeneticVariation disease BEFREE A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome. 18424452 2008
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		0.390 Biomarker disease BEFREE In this paper we provide an updated overview of the clinical and genetic features of SCARB2-related PME and on the functions of the LIMP2 protein. 27582254 2016
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		0.390 GeneticVariation disease BEFREE The present two patients are the first reported to have clearly demonstrated both extraneuronal brown pigment deposition and system neurodegeneration as neuropathological features of PME with SCARB2 mutations. 23659519 2014