MCID: PCD002
MIFTS: 16

Pcdh19-Related Female-Limited Epilepsy

Categories: Rare diseases, Neuronal diseases, Genetic diseases, Mental diseases

Aliases & Classifications for Pcdh19-Related Female-Limited Epilepsy

MalaCards integrated aliases for Pcdh19-Related Female-Limited Epilepsy:

Name: Pcdh19-Related Female-Limited Epilepsy 53
Familial Epilepsy and Mental Retardation Limited to Females 53
Epilepsy, Female-Restricted, with Mental Retardation 73
Epilepsy, Female Restricted, with Mental Retardation 53
Female Restricted Epilepsy with Intellectual Deficit 53
Epilepsy and Mental Retardation Limited to Females 53
Pcdh19-Related Infantile Epileptic Encephalopathy 53
Epileptic Encephalopathy, Early Infantile, 9 53
Juberg-Hellman Syndrome 53
Pcdh19-Related Fle 53
Eiee9 53
Efmr 53

Classifications:



External Ids:

UMLS 73 C1848137

Summaries for Pcdh19-Related Female-Limited Epilepsy

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 101039Disease definitionFemale restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.Visit the Orphanet disease page for more resources.

MalaCards based summary : Pcdh19-Related Female-Limited Epilepsy, also known as familial epilepsy and mental retardation limited to females, is related to epileptic encephalopathy, early infantile, 9 and infantile epileptic encephalopathy, and has symptoms including convulsive seizures, absence seizures and myoclonic seizures. An important gene associated with Pcdh19-Related Female-Limited Epilepsy is PCDH19 (Protocadherin 19).

Related Diseases for Pcdh19-Related Female-Limited Epilepsy

Diseases related to Pcdh19-Related Female-Limited Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 9 11.3
2 infantile epileptic encephalopathy 10.1
3 encephalopathy 10.1
4 epilepsy 10.1

Symptoms & Phenotypes for Pcdh19-Related Female-Limited Epilepsy

UMLS symptoms related to Pcdh19-Related Female-Limited Epilepsy:


convulsive seizures, absence seizures, myoclonic seizures

Drugs & Therapeutics for Pcdh19-Related Female-Limited Epilepsy

Search Clinical Trials , NIH Clinical Center for Pcdh19-Related Female-Limited Epilepsy

Genetic Tests for Pcdh19-Related Female-Limited Epilepsy

Anatomical Context for Pcdh19-Related Female-Limited Epilepsy

Publications for Pcdh19-Related Female-Limited Epilepsy

Articles related to Pcdh19-Related Female-Limited Epilepsy:

# Title Authors Year
1
PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy. ( 23712037 )
2013
2
Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR). ( 22932693 )
2012
3
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. ( 19752159 )
2010
4
Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. ( 9288105 )
1997

Variations for Pcdh19-Related Female-Limited Epilepsy

Expression for Pcdh19-Related Female-Limited Epilepsy

Search GEO for disease gene expression data for Pcdh19-Related Female-Limited Epilepsy.

Pathways for Pcdh19-Related Female-Limited Epilepsy

GO Terms for Pcdh19-Related Female-Limited Epilepsy

Sources for Pcdh19-Related Female-Limited Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....