MCID: CRT037
MIFTS: 24

Cortical Dysplasia-Focal Epilepsy Syndrome malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cortical Dysplasia-Focal Epilepsy Syndrome

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Sources:
12diseasecard, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 51OMIM, 53Orphanet, 67UMLS, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Cortical Dysplasia-Focal Epilepsy Syndrome:

Name: Cortical Dysplasia-Focal Epilepsy Syndrome 51 24 53 69 26 12 67
Pitt-Hopkins-Like Syndrome 1 24 69 26 67
Pthsl1 24 69
Pitt-Hopkins Like Syndrome 1 51
 
Mesh; D008607 69
Cdfe Syndrome 24
Mesh; D006985 69
Cdfes 69

Characteristics:

Orphanet epidemiological data:

53
cortical dysplasia-focal epilepsy syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood

Classifications:



External Ids:

OMIM51 610042
Orphanet53 ORPHA163681
ICD10 via Orphanet30 Q04.8
MeSH38 D054220

Summaries for Cortical Dysplasia-Focal Epilepsy Syndrome

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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

Related Diseases for Cortical Dysplasia-Focal Epilepsy Syndrome

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Diseases related to Cortical Dysplasia-Focal Epilepsy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1pitt-hopkins-like syndrome 211.1
2pitt-hopkins syndrome11.1

Symptoms for Cortical Dysplasia-Focal Epilepsy Syndrome

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Clinical features from OMIM:

610042

Human phenotypes related to Cortical Dysplasia-Focal Epilepsy Syndrome:

 63 (show all 8)
id Description HPO Frequency HPO Source Accession
1 impaired social interactions63 HP:0000735
2 hyperactivity63 HP:0000752
3 intellectual disability63 HP:0001249
4 seizures63 HP:0001250
5 reduced tendon reflexes63 HP:0001315
6 delayed gross motor development63 HP:0002194
7 cortical dysplasia63 HP:0002539
8 progressive language deterioration63 HP:0007064

Drugs & Therapeutics for Cortical Dysplasia-Focal Epilepsy Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic and Electrophysiologic Study in Focal Drug-resistant EpilepsiesRecruitingNCT02890641

Search NIH Clinical Center for Cortical Dysplasia-Focal Epilepsy Syndrome

Genetic Tests for Cortical Dysplasia-Focal Epilepsy Syndrome

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Genetic tests related to Cortical Dysplasia-Focal Epilepsy Syndrome:

id Genetic test Affiliating Genes
1 Pitt-Hopkins-Like Syndrome 126 24 CNTNAP2
2 Cortical Dysplasia-Focal Epilepsy Syndrome26 24 CNTNAP2

Anatomical Context for Cortical Dysplasia-Focal Epilepsy Syndrome

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MalaCards organs/tissues related to Cortical Dysplasia-Focal Epilepsy Syndrome:

35
Brain

Animal Models for Cortical Dysplasia-Focal Epilepsy Syndrome or affiliated genes

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Publications for Cortical Dysplasia-Focal Epilepsy Syndrome

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Variations for Cortical Dysplasia-Focal Epilepsy Syndrome

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Clinvar genetic disease variations for Cortical Dysplasia-Focal Epilepsy Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CNTNAP2NM_014141.5(CNTNAP2): c.3709delG (p.Asp1237Ilefs)deletionPathogenicrs730880275GRCh37Chr 7, 148080974: 148080974

Expression for genes affiliated with Cortical Dysplasia-Focal Epilepsy Syndrome

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Search GEO for disease gene expression data for Cortical Dysplasia-Focal Epilepsy Syndrome.

Pathways for genes affiliated with Cortical Dysplasia-Focal Epilepsy Syndrome

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GO Terms for genes affiliated with Cortical Dysplasia-Focal Epilepsy Syndrome

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Sources for Cortical Dysplasia-Focal Epilepsy Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet