PCDH19 clustering epilepsy
Synonyms: PCDH19 epilepsy · PCDH19-CE · Protocadherin 19 clustering epilepsy
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Childhood, Infancy
- Status
- active
Orphadata ships no English definition for this code.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | PCDH19 clustering epilepsy | PCDH19 epilepsy · PCDH19-CE · Protocadherin 19 clustering epilepsy |
| fr | PCDH19 avec crises groupées | PCDH19-CE |
| de | PCDH19-assoziierte Epilepsie | PCDH19-CE · PCDH19-Cluster-Epilepsie · PCDH19-Epilepsie mit Clusteranfällen · Protocadherin-19-assoziierte Epilepsie |
| es | Epilepsia en racimo PCDH19 | Epilepsia PCDH19 · Epilepsia en racimo asociada a PCDH19 |
| it | Epilessia PCDH19 con raggruppamento delle crisi | Epilessia PCDH19 · PCDH19-CE · Epilessia con raggruppamento delle crisi correlata alla protocaderina 19 |
| nl | PCDH19-clusterepilepsie | PCDH19-CE · PCDH19-epilepsie · Protocadherine 19-clusterepilepsie |
| pt | PCDH19 clustering epilepsy | |
| pl | Padaczka klasterowa PCDH19 | = en |
| cs | PCDH19 clustering epilepsy | = en |
Cross-references
qualifier = Orphanet mapping relationE exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:693802Neonatal/infantile-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:101039Female restricted epilepsy with intellectual disability moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PCDH19 | Disease-causing germline mutation(s) in | Assessed | HGNC:14270 | ENSG00000165194 | 300460 | Xq22.1 | protocadherin 19 | 39187419[PMID]_35503712[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
29 annotations · validated 2025-10-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| Frequent (79-30%) | ||
| HP:0012433 | Abnormal social behavior | |
| HP:0000718 | Aggressive behavior | |
| HP:0000739 | Anxiety | |
| HP:0000708 | Atypical behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000722 | Compulsive behaviors | |
| HP:0000750 | Delayed speech and language development | |
| HP:0011169 | Generalized clonic seizure | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| HP:0002133 | Status epilepticus | |
| Occasional (29-5%) | ||
| HP:0010819 | Atonic seizure | |
| HP:0007270 | Atypical absence seizure | |
| HP:0000729 | Autistic behavior | |
| HP:0011172 | Complex febrile seizure | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0000752 | Hyperactivity | |
| HP:0100710 | Impulsivity | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0010864 | Intellectual disability, severe | |
| Very rare (<4-1%) | ||
| HP:0100738 | Abnormal eating behavior | |
| HP:0000709 | Psychosis | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 29892053[PMID]_20830798[PMID]_25204757[PMID]_29892053[PMID]_20830798[PMID]_25204757[PMID]_29892053[PMID]_20830798[PMID]_25204757[PMID]_29892053[PMID]_20830798[PMID]_25204757[PMID]_29892053[PMID]_20830798[PMID]_25204757[PMID]_29892053[PMID]_20830798[PMID]_25204757[PMID]_29892053[PMID]_20830798[PMID]_25204757[PMID]_29892053[PMID]_20830798[PMID]_25204757[PMID]_29892053[PMID]_20830798[PMID]_25204757[PMID]_29892053[PMID]_20830798[PMID]_25204757[PMID]_29892053[PMID]_20830798[PMID]_25204757[PMID]_29892053[PMID]_20830798[PMID]_25204757[PMID]_29892053[PMID]_20830798[PMID]_25204757[PMID]_29892053[PMID]_20830798[PMID]_25204757[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/714652
- This record as JSON: /data/d/714652.json