MCID: RLN004
MIFTS: 17

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 58

Characteristics:

Orphanet epidemiological data:

58
rolandic epilepsy-speech dyspraxia syndrome
Inheritance: Autosomal dominant,X-linked dominant;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Rolandic Epilepsy-Speech Dyspraxia Syndrome

MalaCards based summary : Rolandic Epilepsy-Speech Dyspraxia Syndrome is related to epilepsy and landau-kleffner syndrome. An important gene associated with Rolandic Epilepsy-Speech Dyspraxia Syndrome is GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A). Related phenotypes are delayed speech and language development and speech apraxia

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 epilepsy 9.7 SRPX2 GRIN2A
2 landau-kleffner syndrome 9.7 SRPX2 GRIN2A
3 childhood electroclinical syndrome 9.7 SRPX2 GRIN2A
4 aphasia 9.7 SRPX2 GRIN2A
5 speech disorder 9.7 SRPX2 GRIN2A
6 speech and communication disorders 9.6 SRPX2 GRIN2A
7 benign epilepsy with centrotemporal spikes 9.6 SRPX2 GRIN2A
8 early infantile epileptic encephalopathy 9.5 SRPX2 GRIN2A

Graphical network of the top 20 diseases related to Rolandic Epilepsy-Speech Dyspraxia Syndrome:



Diseases related to Rolandic Epilepsy-Speech Dyspraxia Syndrome

Symptoms & Phenotypes for Rolandic Epilepsy-Speech Dyspraxia Syndrome

Human phenotypes related to Rolandic Epilepsy-Speech Dyspraxia Syndrome:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
2 speech apraxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011098
3 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
4 drooling 58 31 frequent (33%) Frequent (79-30%) HP:0002307
5 eeg with generalized epileptiform discharges 58 31 frequent (33%) Frequent (79-30%) HP:0011198
6 eeg with focal sharp waves 58 31 frequent (33%) Frequent (79-30%) HP:0011196
7 continuous spike and waves during slow sleep 58 31 frequent (33%) Frequent (79-30%) HP:0031491
8 bilateral tonic-clonic seizure with focal onset 31 frequent (33%) HP:0007334
9 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
10 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
11 nasal speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001611
12 abnormally low-pitched voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0010300
13 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
14 short attention span 58 31 occasional (7.5%) Occasional (29-5%) HP:0000736
15 incomprehensible speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002546
16 abnormal speech prosody 58 31 occasional (7.5%) Occasional (29-5%) HP:0031434
17 seizures 58 Very frequent (99-80%)
18 generalized tonic-clonic seizures with focal onset 58 Frequent (79-30%)
19 focal seizures, afebril 58 Frequent (79-30%)

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 SRPX2 GRIN2A
2 synapse GO:0045202 9.16 SRPX2 GRIN2A
3 cell surface GO:0009986 8.96 SRPX2 GRIN2A
4 synaptic membrane GO:0097060 8.62 SRPX2 GRIN2A

Sources for Rolandic Epilepsy-Speech Dyspraxia Syndrome

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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