PCDH19, protocadherin 19, 57526

N. diseases: 93; N. variants: 48
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		0.010 GeneticVariation group BEFREE Mutations in protocadherin 19 (PCDH19), which is on the X-chromosome, cause the brain disease Epilepsy in Females with Mental Retardation (EFMR). 31747920 2019
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.010 GeneticVariation disease BEFREE We evaluated whether psychosis and serious behavioral problems had occurred in 60 females (age 2-75 years) with PCDH19 pathogenic variants belonging to 35 families. 30828795 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE The RNA-seq data from The Cancer Genome Atlas Database were downloaded and used for analyzing PCDH19 expression in HCC patients and normal liver tissues. 29749051 2018
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.010 Biomarker disease BEFREE Here, we report such evidence: - a male child with KS and PCDH19-related epilepsy - supporting the PCDH19 cellular interference disease hypothesis. 29933145 2018
CUI: C0432474
Disease: Klinefelter's syndrome - male with more than two X chromosomes
Klinefelter's syndrome - male with more than two X chromosomes 		0.010 Biomarker disease BEFREE Here, we report such evidence: - a male child with KS and PCDH19-related epilepsy - supporting the PCDH19 cellular interference disease hypothesis. 29933145 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 AlteredExpression group BEFREE The RNA-seq data from The Cancer Genome Atlas Database were downloaded and used for analyzing PCDH19 expression in HCC patients and normal liver tissues. 29749051 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 GeneticVariation group BEFREE The purpose of this study was to evaluate the frequency of mosaicism detected by next-generation sequencing in genes associated with epilepsy-related neurodevelopmental disorders.MethodsWe conducted a retrospective analysis of 893 probands with epilepsy who had a multigene epilepsy panel or whole-exome sequencing performed in a clinical diagnostic laboratory and were positive for a pathogenic or likely pathogenic variant in one of nine genes (CDKL5, GABRA1, GABRG2, GRIN2B, KCNQ2, MECP2, PCDH19, SCN1A, or SCN2A). 28837158 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 AlteredExpression disease BEFREE PCHD19 promoter was frequently hypermethylated in three (SMMC7721, Hep3B and SNU387) of seven HCC cell lines and 5-aza-dC treatment could significantly increased the PCDH19 expression in these methylated cells. 29749051 2018
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		0.010 GeneticVariation group BEFREE Autism features and various degrees of cognitive deficit are reported in patients with PCDH-19 mutations and epilepsy. 27179713 2016
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.010 GeneticVariation group BEFREE Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations. 27179713 2016
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures 		0.010 GeneticVariation phenotype BEFREE To do this, ictal video-EEG recordings of 26 convulsive seizures in three girls with PCDH19-related epilepsy were analysed. 26898795 2016
CUI: C3203523
Disease: Acute repetitive seizure
Acute repetitive seizure 		0.010 Biomarker phenotype BEFREE The second seizure/cluster occurred after a longer latency in PCDH19-related epilepsy rather than in DS (10.1±13.6 vs 2.2±2.1months; p<0.05). 27371789 2016
CUI: C0391958
Disease: Familial Epilepsies
Familial Epilepsies 		0.010 GeneticVariation disease BEFREE Underlying causes were identified in 15 children (65%) and included SCN1A-related Dravet syndrome (formerly severe myoclonic epilepsy of infancy) or genetic epilepsy with febrile seizures plus syndrome (n = 8 and n = 1, respectively), a protocadherin 19 mutation, a 1qter microdeletion, neuronal migration disorders (n = 2), and other monogenic familial epilepsy (n = 2). 25225143 2014
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.010 Biomarker disease BEFREE For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency. 22765916 2012
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 GeneticVariation disease BEFREE No mutations were identified in the Rett syndrome and autism spectrum disorders cohorts suggesting that despite sharing similar clinical characteristics with EFMR, PCDH19 mutations are not generally associated with these disorders. 19752159 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.020 GeneticVariation disease BEFREE Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy. 30828795 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 Biomarker group BEFREE Furthermore, we identify variable cortical malformations in PCDH19 epilepsy patients. 29301106 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report. 29064093 2018
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.020 GeneticVariation phenotype BEFREE Heterozygous de novo or inherited pathogenic variants in the PCDH19 gene cause a spectrum of neurodevelopmental features including developmental delay and seizures. 29933145 2018
CUI: C0001726
Disease: Affective Symptoms
Affective Symptoms 		0.020 Biomarker phenotype BEFREE Seizures with affective symptoms have been confirmed to be typical of PCDH19-related epilepsy. 27371789 2016
CUI: C0001726
Disease: Affective Symptoms
Affective Symptoms 		0.020 GeneticVariation phenotype BEFREE Most patients with PCDH19 mutations exhibit a distinctive electroclinical pattern of focal seizures with affective symptoms, suggesting an epileptogenic dysfunction involving the frontotemporal limbic system. 22946748 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.020 Biomarker disease BEFREE For example, CDH15 and PCDH19 are associated with cognitive impairment; CDH5, CDH8, CDH9, CDH10, CDH13, CDH15, PCDH10, PCDH19 and PCDHb4 with autism; CDH7, CDH12, CDH18, PCDH12 and FAT with bipolar disease and schizophrenia; and CDH11, CDH12 and CDH13 with methamphetamine and alcohol dependency. 22765916 2012
CUI: C4049262
Disease: Febrile infection related epilepsy syndrome
Febrile infection related epilepsy syndrome 		0.020 GeneticVariation disease BEFREE Mutations in PCDH19, SCN1A, POLG, or CNVs are not responsible for FIRES. 23066759 2012
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation disease BEFREE Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371 2011
CUI: C4049262
Disease: Febrile infection related epilepsy syndrome
Febrile infection related epilepsy syndrome 		0.020 GeneticVariation disease BEFREE We believe that female patients with febrile acute-onset epilepsy resembling FIRES are potential PCDH19 mutation carriers. 21777234 2011