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: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.050 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: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.050 Biomarker disease BEFREE In the present study, we assessed mutations in the PCDH19 gene and the clinical features of a group of Chinese patients with early infantile epileptic encephalopathy and aimed to provide further insight into the understanding of epilepsy and mental retardation limited to females (EFMR; MIM 300088). 29866057 2018
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.050 GeneticVariation disease BEFREE Variants in the X-linked gene PCDH19 are associated with early infantile epileptic encephalopathy-9. 27016041 2016
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.050 Biomarker disease BEFREE Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature. 28462982 2017
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.050 Biomarker disease BEFREE Recently, PCDH19-related EIEE turned out to be more frequent than initially thought, contributing to around 16% of cases (25% in female groups) in the SCN1A-negative DS-like patients. 25204757 2015
CUI: C0239842
Disease: Tremor of hands
Tremor of hands 		0.100 CausalMutation phenotype CLINVAR
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.100 CausalMutation disease CLINVAR
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.100 GeneticVariation disease CLINVAR
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		0.100 Biomarker disease HPO
CUI: C4024936
Disease: Temporal cortical atrophy
Temporal cortical atrophy 		0.100 CausalMutation disease CLINVAR
CUI: C0038379
Disease: Strabismus
Strabismus 		0.100 CausalMutation disease CLINVAR
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.110 Biomarker disease HPO
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		0.110 Biomarker disease BEFREE Prevalence of SE in all selected series of PCDH19-GCE series is 31.5%. 31678000 2019
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.130 Biomarker phenotype HPO
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.130 GeneticVariation phenotype BEFREE Structural lesions are to be searched for in patients with protocadherin 19 (PCDH19) pathogenic variants with refractory focal seizures. 29064093 2018
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.130 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: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.130 GeneticVariation phenotype BEFREE Individuals with epilepsy associated with mutations in the PCDH19 gene display generalized or focal seizures with or without fever sensitivity. 29866057 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype BEFREE Here, we report that corticosteroids are effective for control of the seizure clusters or other acute symptoms of PCDH19-FE and argue for the possible involvement of a compromised blood-brain barrier (BBB) in its pathogenesis. 25891919 2015
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype BEFREE A missense variant of SMC1A causes periodic pharmaco-resistant cluster seizures similar to PCDH19-related epilepsy. 31185419 2019
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype BEFREE The purpose of this study was to elucidate features of the seizure semiology in children with PCDH19-related epilepsy. 26898795 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype BEFREE Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures. 22091964 2012
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype BEFREE We screened for PCDH19 mutations in 75 girls diagnosed with Dravet syndrome (DS) without a SCN1A mutation and 29 girls with fever-sensitive and cluster seizures. 27527380 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype BEFREE There were, however, slight but constant differences in the evolution of the patients, including fewer polymorphic seizures (in particular rare myoclonic jerks and atypical absences) in those with PCDH19 mutations. 19214208 2009