PREPL, prolyl endopeptidase like, 9581

N. diseases: 58; N. variants: 22
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.680 GeneticVariation disease BEFREE Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC3A1 and PREPL) localized on chromosome 2p21, and it is characterized by both renal involvement with cystine stones and nervous involvement with hypotonia. 31024870 2019
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.680 GeneticVariation disease BEFREE Hypotonia-cystinuria syndrome is a very rare autosomal recessive contiguous gene deletion syndrome of PREPL and SLC3A1 at 2p21 with neuromuscular and neuroendocrinologic presentation. 29627929 2018
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.680 GeneticVariation disease BEFREE Different recessive contiguous gene deletion syndromes involving PREPL and a variable combination of SLC3A1 (hypotonia-cystinuria syndrome), CAMKMT (atypical hypotonia-cystinuria syndrome), and PPM1B (2p21 deletion syndrome) have been described. 28726805 2018
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.680 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.680 Biomarker disease CTD_human Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. 26247364 2015
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.680 Biomarker disease GENOMICS_ENGLAND PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. 24610330 2014
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.680 Biomarker disease GENOMICS_ENGLAND PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. 24610330 2014
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.680 GeneticVariation disease BEFREE Hypotonia-cystinuria syndrome (HCS) is an autosomal recessive disorder caused by combined deletions of SLC3A1 and PREPL. 22796000 2012
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.680 GeneticVariation disease BEFREE In addition to isolated cystinuria, patients suffering from the hypotonia-cystinuria syndrome have been reported carrying deletions including at least the SLC3A1 and the PREPL genes in 2p21. 22480232 2012
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.680 GeneticVariation disease BEFREE Patients with HCS are missing both alleles of SLC3A1 and PREPL. 18781961 2008
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.680 GeneticVariation disease BEFREE Hypotonia-cystinuria syndrome (HCS) is a recessive disorder caused by microdeletions of SLC3A1 and PREPL on chromosome 2p21. 17579669 2007
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.680 ChromosomalRearrangement disease ORPHANET Taken together, these results suggest that PREPL is a novel oligopeptidase, with unique structural and functional characteristics, involved in hypotonia-cystinuria syndrome. 16385448 2006
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		0.680 GeneticVariation disease BEFREE The prolyl endopeptidase-like protein PREPL has recently attracted attention because its gene is located within two contiguous gene-deletion syndromes, the 2p21 deletion syndrome and the hypotonia-cystinuria syndrome. 16913837 2006
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		0.430 Biomarker disease BEFREE PREPL protein and reactivity were absent in lymphocytes from subjects with PREPL deficiency, but normal in the clinically similar Prader-Willi syndrome.ConclusionPREPL deficiency causes neuromuscular, autonomic, cognitive, endocrine, and dysmorphic clinical features. 28726805 2018
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		0.430 Biomarker disease GENOMICS_ENGLAND Congenital myasthenic syndromes: recent advances. 27472506 2016
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		0.430 GeneticVariation disease CLINVAR PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. 24610330 2014
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		0.430 CausalMutation disease CLINVAR PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. 24610330 2014
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		0.430 GeneticVariation disease BEFREE The proband harbors a paternally inherited nonsense mutation in PREPL and a maternally inherited deletion involving both PREPL and SLC3A1; therefore, the PREPL deficiency determines the phenotype. 24610330 2014
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		0.430 GeneticVariation disease BEFREE Deletion of the Prolyl Endopeptidase-like (PREPL) gene has been described in three contiguous gene deletion syndromes at the 2p21 locus and current developments in high resolution microarrays and whole genome sequencing will no doubt soon result in the identification of isolated PREPL deficiency. 21222627 2011
CUI: C0022972
Disease: Lambert-Eaton Myasthenic Syndrome
Lambert-Eaton Myasthenic Syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND Congenital myasthenic syndromes: recent advances. 27472506 2016
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome 		0.300 Biomarker disease GENOMICS_ENGLAND Congenital myasthenic syndromes: recent advances. 27472506 2016
CUI: C1150715
Disease: biotin-[acetyl-CoA-carboxylase] ligase activity
biotin-[acetyl-CoA-carboxylase] ligase activity 		0.300 Biomarker phenotype GENOMICS_ENGLAND HCS is caused by recessive deletions involving the SLC3A1 and PREPL genes. 24610330 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. 24610330 2014
CUI: C4749458
Disease: 2p21 microdeletion syndrome without cystinuria
2p21 microdeletion syndrome without cystinuria 		0.300 ChromosomalRearrangement disease ORPHANET Further delineation of genotype-phenotype correlation in homozygous 2p21 deletion syndromes: first description of patients without cystinuria. 23794250 2013
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		0.300 ChromosomalRearrangement disease ORPHANET A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease. 11524703 2001