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

Aliases & Descriptions for Cortical Dysplasia-Focal Epilepsy Syndrome:

Name: Cortical Dysplasia-Focal Epilepsy Syndrome 54 24 56 66 29 13 69
Pitt-Hopkins-Like Syndrome 1 24 66 29 69
Pthsl1 24 66
Pitt-Hopkins Like Syndrome 1 54
Cdfe Syndrome 24
Mesh; D006985 66
Mesh; D008607 66
Cdfes 66

Characteristics:

Orphanet epidemiological data:

56
cortical dysplasia-focal epilepsy syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 610042
Orphanet 56 ORPHA163681
ICD10 via Orphanet 34 Q04.8
MeSH 42 D054220

Summaries for Cortical Dysplasia-Focal Epilepsy Syndrome

UniProtKB/Swiss-Prot : 66 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 seizures, intellectual disability and reduced tendon reflexes. An important gene associated with Cortical Dysplasia-Focal Epilepsy Syndrome is CNTNAP2 (Contactin Associated Protein-Like 2). Affiliated tissues include brain.

Description from OMIM: 610042

Related Diseases for Cortical Dysplasia-Focal Epilepsy Syndrome

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

id Related Disease Score Top Affiliating Genes
1 pitt-hopkins-like syndrome 2 11.1
2 pitt-hopkins syndrome 11.1

Symptoms & Phenotypes for Cortical Dysplasia-Focal Epilepsy Syndrome

Clinical features from OMIM:

610042

Human phenotypes related to Cortical Dysplasia-Focal Epilepsy Syndrome:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 intellectual disability 32 HP:0001249
3 reduced tendon reflexes 32 HP:0001315
4 impaired social interactions 32 HP:0000735
5 hyperactivity 32 HP:0000752
6 delayed gross motor development 32 HP:0002194
7 cortical dysplasia 32 HP:0002539
8 progressive language deterioration 32 HP:0007064

Drugs & Therapeutics for Cortical Dysplasia-Focal Epilepsy Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase
1 Genetic and Electrophysiologic Study in Focal Drug-resistant Epilepsies Recruiting NCT02890641

Search NIH Clinical Center for Cortical Dysplasia-Focal Epilepsy Syndrome

Genetic Tests for Cortical Dysplasia-Focal Epilepsy Syndrome

Genetic tests related to Cortical Dysplasia-Focal Epilepsy Syndrome:

id Genetic test Affiliating Genes
1 Pitt-Hopkins-Like Syndrome 1 29 24 CNTNAP2
2 Cortical Dysplasia-Focal Epilepsy Syndrome 29 24 CNTNAP2

Anatomical Context for Cortical Dysplasia-Focal Epilepsy Syndrome

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

39
Brain

Publications for Cortical Dysplasia-Focal Epilepsy Syndrome

Variations for Cortical Dysplasia-Focal Epilepsy Syndrome

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CNTNAP2 NM_014141.5(CNTNAP2): c.3709delG (p.Asp1237Ilefs) deletion Pathogenic rs730880275 GRCh37 Chromosome 7, 148080974: 148080974
2 CNTNAP2 NM_014141.5(CNTNAP2): c.2606T> C (p.Ile869Thr) single nucleotide variant risk factor rs121908445 GRCh37 Chromosome 7, 147844634: 147844634
3 CNTNAP2 NC_000007.13: g.(?_145931708)_(147099477_?)del deletion Pathogenic NCBI36 Chromosome 7, 145562641: 146730410
4 CNTNAP2 NM_014141.5(CNTNAP2): c.1671-1G> T single nucleotide variant Pathogenic rs730880276 GRCh37 Chromosome 7, 147183026: 147183026
5 CNTNAP2 NC_000007.13: g.(?_146756421)_(146935930_?)del deletion Pathogenic NCBI36 Chromosome 7, 146387354: 146566863

Expression for Cortical Dysplasia-Focal Epilepsy Syndrome

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

Pathways for Cortical Dysplasia-Focal Epilepsy Syndrome

GO Terms for Cortical Dysplasia-Focal Epilepsy Syndrome

Sources for Cortical Dysplasia-Focal Epilepsy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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