EFMR
MCID: PCD002
MIFTS: 18

Pcdh19-Related Female-Limited Epilepsy (EFMR)

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Pcdh19-Related Female-Limited Epilepsy

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

Name: Pcdh19-Related Female-Limited Epilepsy 20
Female Restricted Epilepsy with Intellectual Disability 20
Epilepsy, Female-Restricted, with Mental Retardation 70
Pcdh19-Related Infantile Epileptic Encephalopathy 20
Epileptic Encephalopathy, Early Infantile, 9 20
Juberg-Hellman Syndrome 20
Pcdh19-Related Fle 20
Eiee9 20
Efmr 20

Classifications:



Summaries for Pcdh19-Related Female-Limited Epilepsy

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 101039 Definition Female 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.

MalaCards based summary : Pcdh19-Related Female-Limited Epilepsy, also known as female restricted epilepsy with intellectual disability, is related to developmental and epileptic encephalopathy 9 and epilepsy, and has symptoms including myoclonic seizures, absence seizures and convulsive seizures. An important gene associated with Pcdh19-Related Female-Limited Epilepsy is PCDH19 (Protocadherin 19). Related phenotypes are delayed speech and language development and anxiety

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 developmental and epileptic encephalopathy 9 10.2
2 epilepsy 10.2
3 seizure disorder 10.2
4 x-linked intellectual disability-epilepsy syndrome 10.2
5 early infantile epileptic encephalopathy 10.0
6 encephalopathy 10.0

Graphical network of the top 20 diseases related to Pcdh19-Related Female-Limited Epilepsy:



Diseases related to Pcdh19-Related Female-Limited Epilepsy

Symptoms & Phenotypes for Pcdh19-Related Female-Limited Epilepsy

Human phenotypes related to Pcdh19-Related Female-Limited Epilepsy:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 31 frequent (33%) HP:0000750
2 anxiety 31 frequent (33%) HP:0000739
3 motor delay 31 frequent (33%) HP:0001270
4 obsessive-compulsive behavior 31 frequent (33%) HP:0000722
5 abnormal social behavior 31 frequent (33%) HP:0012433
6 status epilepticus 31 frequent (33%) HP:0002133
7 aggressive behavior 31 frequent (33%) HP:0000718
8 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
9 generalized tonic seizure 31 frequent (33%) HP:0010818
10 generalized clonic seizure 31 frequent (33%) HP:0011169
11 global developmental delay 31 occasional (7.5%) HP:0001263
12 intellectual disability, mild 31 occasional (7.5%) HP:0001256
13 intellectual disability, severe 31 occasional (7.5%) HP:0010864
14 intellectual disability, moderate 31 occasional (7.5%) HP:0002342
15 intellectual disability, profound 31 occasional (7.5%) HP:0002187
16 autistic behavior 31 occasional (7.5%) HP:0000729
17 hyperactivity 31 occasional (7.5%) HP:0000752
18 focal-onset seizure 31 occasional (7.5%) HP:0007359
19 impulsivity 31 occasional (7.5%) HP:0100710
20 atonic seizure 31 occasional (7.5%) HP:0010819
21 atypical absence seizure 31 occasional (7.5%) HP:0007270
22 generalized myoclonic seizure 31 occasional (7.5%) HP:0002123
23 complex febrile seizure 31 occasional (7.5%) HP:0011172
24 psychosis 31 very rare (1%) HP:0000709
25 abnormal eating behavior 31 very rare (1%) HP:0100738

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


myoclonic seizures; absence seizures; convulsive 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 PMID Year
1
PCDH19-related female-limited epilepsy: further details regarding early clinical features and therapeutic efficacy. 61
23712037 2013
2
PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder. 61
22267240 2012

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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