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: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR Protocadherin 19 mutations in girls with infantile-onset epilepsy. 20713952 2010
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. 20830798 2010
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GermlineCausalMutation disease ORPHANET Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 19752159 2010
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 19214208 2009
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 19214208 2009
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GeneticVariation disease UNIPROT X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. 18469813 2008
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 GermlineCausalMutation disease ORPHANET X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. 18469813 2008
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. 18469813 2008
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR Cystic fibrosis prenatal diagnosis: confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation. 2267240 1990
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 Biomarker disease CTD_human
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 Biomarker disease BEFREE In mice and humans, epilepsy occurs only in heterozygous females who have a mixture of PCDH19 wild-type (WT) and mutant cells caused by random X-inactivation; it does not occur in hemizygous PCDH19 mutant males. 31747920 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 Biomarker disease BEFREE PCDH19 has become the second most relevant gene in epilepsy after SCN1A.Seizures often provoked by fever. 31714027 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE We identify that psychotic disorders, including schizophrenia, are a later-onset manifestation of PCDH19 Girls Clustering Epilepsy. 30828795 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 Biomarker disease BEFREE The periodicity of cluster seizures mimicking that of PCDH19-related epilepsy may characterize SMC1A-related encephalopathy. 31185419 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 Biomarker disease BEFREE To date about 150 mutations have been identified as causative for PCDH19-female epilepsy (also known as early infantile epileptic encephalopathy-9, EIEE9), which is characterized by early onset epilepsy, intellectual disabilities, and behavioral disturbances. 30431232 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 Biomarker disease BEFREE The PCDH19 gene (Xp22.1) encodes the cell-adhesion protein protocadherin-19 (PCDH19) and is responsible for a neurodevelopmental pathology characterized by female-limited epilepsy, cognitive impairment and autistic features, the pathogenic mechanisms of which remain to be elucidated. 29360992 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 Biomarker disease BEFREE Our results highlight the role of PCDH19 in determining cell adhesion affinities during cortical development and the way segregation of WT and null PCDH19 cells is associated with the unique X-linked inheritance of PCDH19 epilepsy. 29301106 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE Despite being the second most prevalent monogeneic cause of epilepsy, little is known about the role of PCDH19 in brain development. 29763708 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 Biomarker disease BEFREE Whereas the majority of individuals had ID, we highlight the possibility of average intellect in the setting of PCDH19-related epilepsy. 29377098 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 Biomarker disease BEFREE We retrospectively collected genetic, clinical, and electroencephalogram (EEG) data of 61 patients with PCDH19-related epilepsy followed at 15 epilepsy centers. 30451291 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE We described three variations in the PCDH19 gene in Chinese patients with epilepsy who developed generalized seizures occurring in clusters with or without triggering by fever. 29866057 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE Early recognition of the above features should improve early diagnosis and long-term management of patients with epilepsy and PCDH19 mutations. 30530412 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE Focal cortical malformations in children with early infantile epilepsy and PCDH19 mutations: case report. 29064093 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.600 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: C0014544
Disease: Epilepsy
Epilepsy 		0.600 GeneticVariation disease BEFREE Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females. 30572518 2018