MCID: XLN236
MIFTS: 10

X-Linked Intellectual Disability-Epilepsy Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Intellectual Disability-Epilepsy Syndrome

MalaCards integrated aliases for X-Linked Intellectual Disability-Epilepsy Syndrome:

Name: X-Linked Intellectual Disability-Epilepsy Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-epilepsy syndrome
Inheritance: X-linked dominant,X-linked recessive; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for X-Linked Intellectual Disability-Epilepsy Syndrome

MalaCards based summary : X-Linked Intellectual Disability-Epilepsy Syndrome Related phenotypes are intellectual disability and seizures

Related Diseases for X-Linked Intellectual Disability-Epilepsy Syndrome

Symptoms & Phenotypes for X-Linked Intellectual Disability-Epilepsy Syndrome

Human phenotypes related to X-Linked Intellectual Disability-Epilepsy Syndrome:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250

Drugs & Therapeutics for X-Linked Intellectual Disability-Epilepsy Syndrome

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability-Epilepsy Syndrome

Genetic Tests for X-Linked Intellectual Disability-Epilepsy Syndrome

Anatomical Context for X-Linked Intellectual Disability-Epilepsy Syndrome

Publications for X-Linked Intellectual Disability-Epilepsy Syndrome

Articles related to X-Linked Intellectual Disability-Epilepsy Syndrome:

# Title Authors PMID Year
1
Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy. 6
21633362 2011
2
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 6
19752159 2010
3
Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females. 6
19214208 2009
4
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. 6
18469813 2008
5
Hereditary Hyperekplexia 6
20301437 2007
6
The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering. 6
15215304 2004
7
A new familial form of convulsive disorder and mental retardation limited to females. 6
5116697 1971

Variations for X-Linked Intellectual Disability-Epilepsy Syndrome

Expression for X-Linked Intellectual Disability-Epilepsy Syndrome

Search GEO for disease gene expression data for X-Linked Intellectual Disability-Epilepsy Syndrome.

Pathways for X-Linked Intellectual Disability-Epilepsy Syndrome

GO Terms for X-Linked Intellectual Disability-Epilepsy Syndrome

Sources for X-Linked Intellectual Disability-Epilepsy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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