MCID: RLN004
MIFTS: 8

Rolandic Epilepsy-Speech Dyspraxia Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Rolandic Epilepsy-Speech Dyspraxia Syndrome

MalaCards integrated aliases for Rolandic Epilepsy-Speech Dyspraxia Syndrome:

Name: Rolandic Epilepsy-Speech Dyspraxia Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
rolandic epilepsy-speech dyspraxia syndrome
Inheritance: Autosomal dominant,X-linked dominant;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Orphanet 59 ORPHA163721

Summaries for Rolandic Epilepsy-Speech Dyspraxia Syndrome

MalaCards based summary : Rolandic Epilepsy-Speech Dyspraxia Syndrome is related to benign epilepsy with centrotemporal spikes and epilepsy. An important gene associated with Rolandic Epilepsy-Speech Dyspraxia Syndrome is SRPX2 (Sushi Repeat Containing Protein X-Linked 2).

Related Diseases for Rolandic Epilepsy-Speech Dyspraxia Syndrome

Diseases related to Rolandic Epilepsy-Speech Dyspraxia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 benign epilepsy with centrotemporal spikes 9.2 GRIN2A SRPX2
2 epilepsy 9.0 GRIN2A SRPX2

Symptoms & Phenotypes for Rolandic Epilepsy-Speech Dyspraxia Syndrome

Drugs & Therapeutics for Rolandic Epilepsy-Speech Dyspraxia Syndrome

Search Clinical Trials , NIH Clinical Center for Rolandic Epilepsy-Speech Dyspraxia Syndrome

Genetic Tests for Rolandic Epilepsy-Speech Dyspraxia Syndrome

Anatomical Context for Rolandic Epilepsy-Speech Dyspraxia Syndrome

Publications for Rolandic Epilepsy-Speech Dyspraxia Syndrome

Variations for Rolandic Epilepsy-Speech Dyspraxia Syndrome

Expression for Rolandic Epilepsy-Speech Dyspraxia Syndrome

Search GEO for disease gene expression data for Rolandic Epilepsy-Speech Dyspraxia Syndrome.

Pathways for Rolandic Epilepsy-Speech Dyspraxia Syndrome

GO Terms for Rolandic Epilepsy-Speech Dyspraxia Syndrome

Cellular components related to Rolandic Epilepsy-Speech Dyspraxia Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.26 GRIN2A SRPX2
2 cell surface GO:0009986 9.16 GRIN2A SRPX2
3 synapse GO:0045202 8.96 GRIN2A SRPX2
4 synaptic membrane GO:0097060 8.62 GRIN2A SRPX2

Sources for Rolandic Epilepsy-Speech Dyspraxia Syndrome

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
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