MCID: RLN002
MIFTS: 25

Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

MalaCards integrated aliases for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia:

Name: Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia 54 13
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 24 69
Resdx 24 71
Rolandic Epilepsy with Mental Retardation and Speech Dyspraxia, X-Linked 29
Rolandic Epilepsy with Speech Dyspraxia and Mental Retardation X-Linked 71

Characteristics:

HPO:

32
rolandic epilepsy, mental retardation, and speech dyspraxia:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

UniProtKB/Swiss-Prot : 71 Rolandic epilepsy with speech dyspraxia and mental retardation X-linked: A condition characterized by the association of rolandic seizures with oral and speech dyspraxia, and mental retardation. Rolandic seizures occur during a period of significant brain maturation. During this time, dysfunction of neural network activities such as focal discharges may be associated with specific developmental disabilities resulting in specific cognitive impairments of language, visuo-spatial abilities or attention.

MalaCards based summary : Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, also known as rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked, is related to epilepsy, focal, with speech disorder and with or without mental retardation and secondary central precocious puberty, and has symptoms including focal seizures, intellectual disability, mild and speech apraxia. An important gene associated with Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia is SRPX2 (Sushi Repeat Containing Protein, X-Linked 2). Affiliated tissues include brain.

Description from OMIM: 300643

Related Diseases for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

Diseases related to Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 epilepsy, focal, with speech disorder and with or without mental retardation 11.4
2 secondary central precocious puberty 9.5 GRIN2A SRPX2
3 mononeuritis multiplex 9.5 GRIN2A SRPX2
4 fabry disease 9.4 GRIN2A SRPX2
5 histrionic personality disorder 9.2 GRIN2A SRPX2

Graphical network of the top 20 diseases related to Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia:



Diseases related to Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

Symptoms & Phenotypes for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

Clinical features from OMIM:

300643

Human phenotypes related to Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia:

32
id Description HPO Frequency HPO Source Accession
1 focal seizures 32 HP:0007359
2 intellectual disability, mild 32 HP:0001256
3 speech apraxia 32 HP:0011098
4 frontoparietal polymicrogyria 32 HP:0007095

Drugs & Therapeutics for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

Search Clinical Trials , NIH Clinical Center for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

Genetic Tests for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

Genetic tests related to Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia:

id Genetic test Affiliating Genes
1 Rolandic Epilepsy with Mental Retardation and Speech Dyspraxia, X-Linked 29
2 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 24 SRPX2

Anatomical Context for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

MalaCards organs/tissues related to Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia:

39
Brain

Publications for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

Variations for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

UniProtKB/Swiss-Prot genetic disease variations for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia:

71
id Symbol AA change Variation ID SNP ID
1 SRPX2 p.Tyr72Ser VAR_030312 rs121918364
2 SRPX2 p.Asn327Ser VAR_030314 rs121918363

ClinVar genetic disease variations for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SRPX2 NM_014467.2(SRPX2): c.215A> C (p.Tyr72Ser) single nucleotide variant Pathogenic rs121918364 GRCh37 Chromosome X, 99917224: 99917224

Expression for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

Search GEO for disease gene expression data for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia.

Pathways for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

GO Terms for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

Cellular components related to Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.16 GRIN2A SRPX2
2 cell surface GO:0009986 8.96 GRIN2A SRPX2
3 synapse GO:0045202 8.62 GRIN2A SRPX2

Sources for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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