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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Epilepsies, Partial (D004828)
Parent Node: Malformations of Cortical Development (D054220)
..Starting node ..Cortical Dysplasia-Focal Epilepsy Syndrome (C566482)
Child Nodes:
Sister Nodes:
..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..CK SYNDROME (OMIM:300831)
..Cortical Dysplasia of Taylor without Balloon Cells (C564583)
..Cortical Dysplasia-Focal Epilepsy Syndrome (C566482)
..Curatolo Cilio Pessagno syndrome (C536701)
..Familial schizencephaly (C538514)
..Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy (C564264)
..Malformations of Cortical Development, Group I (D065703) 172
..Malformations of Cortical Development, Group II (D054081) 35
..Malformations of Cortical Development, Group III (D065704) 4
..Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..Muller Barth Menger syndrome (C537370)
..Non-lissencephalic cortical dysplasia (C536243)
..Perisylvian syndrome (C536658)
..Pitt-Hopkins-Like Syndrome 1 (C567657)
..Polymicrogyria With Optic Nerve Hypoplasia (C567715)
..Polymicrogyria, Asymmetric (C567658)
..Polymicrogyria, Bilateral Frontoparietal (C564652)
..Polymicrogyria, Bilateral Occipital (C567201)
..POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC (OMIM:610031)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2778

Name:

Cortical Dysplasia-Focal Epilepsy Syndrome

Definition:

Alternative IDs:

OMIM:610042

ParentIDs:

MESH:D004828|MESH:D054220

TreeNumbers:

C10.228.140.490.360/C566482 |C10.500.507/C566482 |C16.131.666.507/C566482

Synonyms:

CDFES |CDFE SYNDROME PITT-HOPKINS-LIKE SYNDROME 1, INCLUDED |PTHSL1, INCLUDED

Slim Mappings:

Congenital abnormality|Nervous system disease

Reference:

MedGen: C566482
MeSH: C566482
OMIM: 610042;

Genes: CNTNAP2;

Phenotypes

1	HP:0002539	Cortical dysplasia
2	HP:0002194	Delayed gross motor development
3	HP:0000752	Hyperactivity
4	HP:0000735	Impaired social interactions
5	HP:0001249	Intellectual disability
6	HP:0007064	Progressive language deterioration
7	HP:0001315	Reduced tendon reflexes
8	HP:0001250	Seizure

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_014141.5(CNTNAP2):c.3709delG (p.Asp1237Ilefs)	26047	CNTNAP2	Pathogenic	730880275	RCV000005825;	N	MedGen:C1864887,OMIM:610042,ORPHA:163681	7	148080974	148080974	NM_014141.5:c.3709delG	NP_054860.1:p.Asp1237Ilefs	NC_000007.13:g.148080974delG	OMIM Allelic Variant:604569.0001	C1864887 610042 Cortical dysplasia-focal epilepsy syndrome