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 GermlineCausalMutation disease ORPHANET 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 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 Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 19752159 2010
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.400 GermlineCausalMutation disease ORPHANET A small percentage of female patients with a DS-like phenotype might carry PCDH19 mutations. 21463275 2011
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.400 GermlineCausalMutation disease ORPHANET SCN1A-negative Dravet syndrome patients and patients with phenotypes resembling Dravet syndrome were checked for PCDH19 and TSPYL4 mutations. 22848613 2012
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.400 GermlineCausalMutation disease ORPHANET Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 19214208 2009
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.400 GermlineCausalMutation disease ORPHANET Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. 23808377 2013
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
Infantile Severe Myoclonic Epilepsy 		0.400 GermlineCausalMutation disease ORPHANET PCDH19 mutations might account for 5ｵ of overall DS cases. 23093055 2012
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders. 23334464 2013
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings. 23808377 2013
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR PCDH19-related epilepsy in two mosaic male patients. 26765483 2016
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. 21053371 2011
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR [Genotype and phenotype of female Dravet syndrome with PCDH19 mutations]. 27143072 2016
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations. 21480887 2011
CUI: C1848137
Disease: EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder) 		0.720 CausalMutation disease CLINVAR Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome. 22848613 2012
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 CausalMutation disease CLINVAR The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population. 27527380 2017
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 CausalMutation disease CLINVAR Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy. 22946748 2012
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 PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. 22267240 2012
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: C0234533
Disease: Generalized seizures
Generalized seizures 		0.120 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 CausalMutation disease CLINVAR
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation phenotype CLINVAR PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant. 27016041 2016