Cortical Dysplasia-Focal Epilepsy Syndrome malady
Categories: Genetic diseases, Neuronal diseases, Rare diseases
Aliases & Descriptions for Cortical Dysplasia-Focal Epilepsy Syndrome:
Orphanet epidemiological data:53
cortical dysplasia-focal epilepsy syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases
Rare neurological diseases
UniProtKB/Swiss-Prot:69 Cortical dysplasia-focal epilepsy syndrome: A disease characterized by cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures begin in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation develop. Pitt-Hopkins-like syndrome 1: A syndrome characterized by severe mental retardation and variable additional symptoms, such as impaired speech development, seizures, autistic behavior, breathing anomalies and a broad mouth, resembling Pitt-Hopkins syndrome. In contrast to patients with Pitt-Hopkins syndrome, PTHSL1 patients present with normal or only mildly to moderately delayed motor milestones.
MalaCards based summary: Cortical Dysplasia-Focal Epilepsy Syndrome, also known as pitt-hopkins-like syndrome 1, is related to pitt-hopkins-like syndrome 2 and pitt-hopkins syndrome, and has symptoms including impaired social interactions, hyperactivity and intellectual disability. An important gene associated with Cortical Dysplasia-Focal Epilepsy Syndrome is CNTNAP2 (Contactin Associated Protein-Like 2). Affiliated tissues include brain.
Description from OMIM:51 610042
Diseases related to Cortical Dysplasia-Focal Epilepsy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Clinical features from OMIM:610042
Human phenotypes related to Cortical Dysplasia-Focal Epilepsy Syndrome:63 (show all 8)
MalaCards organs/tissues related to Cortical Dysplasia-Focal Epilepsy Syndrome:35
Search GEO for disease gene expression data for Cortical Dysplasia-Focal Epilepsy Syndrome.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet