PTHSL1
MCID: CRT037
MIFTS: 24

Cortical Dysplasia-Focal Epilepsy Syndrome (PTHSL1) malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cortical Dysplasia-Focal Epilepsy Syndrome

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 52OMIM, 54Orphanet, 68UMLS, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Cortical Dysplasia-Focal Epilepsy Syndrome:

Name: Cortical Dysplasia-Focal Epilepsy Syndrome 52 24 54 70 27 12 68
Pitt-Hopkins-Like Syndrome 1 24 70 27 68
Pthsl1 24 70
Pitt-Hopkins Like Syndrome 1 52
 
Mesh; D008607 70
Cdfe Syndrome 24
Mesh; D006985 70
Cdfes 70

Characteristics:

Orphanet epidemiological data:

54
cortical dysplasia-focal epilepsy syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood

Classifications:



External Ids:

OMIM52 610042
Orphanet54 ORPHA163681
ICD10 via Orphanet31 Q04.8
MeSH39 D054220

Summaries for Cortical Dysplasia-Focal Epilepsy Syndrome

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes for Cortical Dysplasia-Focal Epilepsy Syndrome

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Clinical features from OMIM:

610042

Human phenotypes related to Cortical Dysplasia-Focal Epilepsy Syndrome:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 impaired social interactions64 HP:0000735
2 hyperactivity64 HP:0000752
3 intellectual disability64 HP:0001249
4 seizures64 HP:0001250
5 reduced tendon reflexes64 HP:0001315
6 delayed gross motor development64 HP:0002194
7 cortical dysplasia64 HP:0002539
8 progressive language deterioration64 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 127 24 CNTNAP2
2 Cortical Dysplasia-Focal Epilepsy Syndrome27 24 CNTNAP2

Anatomical Context for Cortical Dysplasia-Focal Epilepsy Syndrome

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

36
Brain

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
2CNTNAP2NM_ 014141.5(CNTNAP2): c.2606T> C (p.Ile869Thr)SNVrisk factorrs121908445GRCh37Chr 7, 147844634: 147844634

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet