RESDX
MCID: RLN001
MIFTS: 19

Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked (RESDX)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

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

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

Name: Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 58 74
Rolandic Epilepsy with Mental Retardation and Speech Dyspraxia, X-Linked 30 6
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia 58 13
Resdx 58 76
Rolandic Epilepsy with Speech Dyspraxia and Mental Retardation X-Linked 76
Epilepsy, Rolandic, Mental Retardation, and Speech Dyspraxia 41

Characteristics:

HPO:

33
rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 300643
MedGen 43 C1845070
UMLS 74 C1845070

Summaries for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia,...

UniProtKB/Swiss-Prot : 76 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, X-Linked, also known as rolandic epilepsy with mental retardation and speech dyspraxia, x-linked, is related to epilepsy, focal, with speech disorder and with or without mental retardation. An important gene associated with Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked is SRPX2 (Sushi Repeat Containing Protein X-Linked 2). Affiliated tissues include brain and cortex, and related phenotypes are intellectual disability, mild and focal-onset seizure

Description from OMIM: 300643

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

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

# Related Disease Score Top Affiliating Genes
1 epilepsy, focal, with speech disorder and with or without mental retardation 12.3

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

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

33
# Description HPO Frequency HPO Source Accession
1 intellectual disability, mild 33 HP:0001256
2 focal-onset seizure 33 HP:0007359
3 speech apraxia 33 HP:0011098
4 frontoparietal polymicrogyria 33 HP:0007095

Clinical features from OMIM:

300643

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

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

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

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

# Genetic test Affiliating Genes
1 Rolandic Epilepsy with Mental Retardation and Speech Dyspraxia, X-Linked 30 SRPX2

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

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

42
Brain, Cortex

Publications for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia,...

Articles related to Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked:

# Title Authors Year
1
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. ( 24995671 )
2014
2
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. ( 23933820 )
2013
3
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. ( 23871722 )
2013
4
Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero. ( 23831613 )
2013
5
Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR. ( 18718938 )
2008
6
SRPX2 mutations in disorders of language cortex and cognition. ( 16497722 )
2006

Variations for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia,...

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

76
# Symbol AA change Variation ID SNP ID
1 SRPX2 p.Tyr72Ser VAR_030312 rs121918364

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

6 (show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 SRPX2 NM_014467.2(SRPX2): c.980A> G (p.Asn327Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121918363 GRCh37 Chromosome X, 99922289: 99922289
2 SRPX2 NM_014467.2(SRPX2): c.980A> G (p.Asn327Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121918363 GRCh38 Chromosome X, 100667292: 100667292
3 SRPX2 NM_014467.2(SRPX2): c.215A> C (p.Tyr72Ser) single nucleotide variant Pathogenic rs121918364 GRCh37 Chromosome X, 99917224: 99917224
4 SRPX2 NM_014467.2(SRPX2): c.215A> C (p.Tyr72Ser) single nucleotide variant Pathogenic rs121918364 GRCh38 Chromosome X, 100662227: 100662227
5 SRPX2 NM_014467.2(SRPX2): c.1373G> A (p.Arg458Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs146051561 GRCh37 Chromosome X, 99925959: 99925959
6 SRPX2 NM_014467.2(SRPX2): c.1373G> A (p.Arg458Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs146051561 GRCh38 Chromosome X, 100670962: 100670962
7 SRPX2 NM_014467.2(SRPX2): c.460C> G (p.His154Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs73636611 GRCh37 Chromosome X, 99919875: 99919875
8 SRPX2 NM_014467.2(SRPX2): c.460C> G (p.His154Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs73636611 GRCh38 Chromosome X, 100664878: 100664878
9 SRPX2 NM_014467.2(SRPX2): c.1293C> T (p.Tyr431=) single nucleotide variant Benign/Likely benign rs138091242 GRCh37 Chromosome X, 99925879: 99925879
10 SRPX2 NM_014467.2(SRPX2): c.1293C> T (p.Tyr431=) single nucleotide variant Benign/Likely benign rs138091242 GRCh38 Chromosome X, 100670882: 100670882
11 SRPX2 NM_014467.2(SRPX2): c.693C> A (p.His231Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs142719253 GRCh37 Chromosome X, 99920566: 99920566
12 SRPX2 NM_014467.2(SRPX2): c.693C> A (p.His231Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs142719253 GRCh38 Chromosome X, 100665569: 100665569
13 SRPX2 NM_014467.2(SRPX2): c.920A> G (p.Gln307Arg) single nucleotide variant Uncertain significance rs147757229 GRCh37 Chromosome X, 99921889: 99921889
14 SRPX2 NM_014467.2(SRPX2): c.920A> G (p.Gln307Arg) single nucleotide variant Uncertain significance rs147757229 GRCh38 Chromosome X, 100666892: 100666892
15 SRPX2 NM_014467.2(SRPX2): c.981C> G (p.Asn327Lys) single nucleotide variant Uncertain significance rs370033099 GRCh37 Chromosome X, 99922290: 99922290
16 SRPX2 NM_014467.2(SRPX2): c.981C> G (p.Asn327Lys) single nucleotide variant Uncertain significance rs370033099 GRCh38 Chromosome X, 100667293: 100667293
17 SRPX2 NM_014467.2(SRPX2): c.481C> A (p.Arg161=) single nucleotide variant Benign/Likely benign rs150552508 GRCh37 Chromosome X, 99919896: 99919896
18 SRPX2 NM_014467.2(SRPX2): c.481C> A (p.Arg161=) single nucleotide variant Benign/Likely benign rs150552508 GRCh38 Chromosome X, 100664899: 100664899
19 SRPX2 NM_014467.2(SRPX2): c.809C> T (p.Pro270Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148735447 GRCh38 Chromosome X, 100666781: 100666781
20 SRPX2 NM_014467.2(SRPX2): c.809C> T (p.Pro270Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148735447 GRCh37 Chromosome X, 99921778: 99921778
21 SRPX2 NM_014467.2(SRPX2): c.1030C> A (p.Leu344Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149051060 GRCh37 Chromosome X, 99922339: 99922339
22 SRPX2 NM_014467.2(SRPX2): c.1030C> A (p.Leu344Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149051060 GRCh38 Chromosome X, 100667342: 100667342
23 SRPX2 NM_014467.2(SRPX2): c.1199A> G (p.Asn400Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141292909 GRCh37 Chromosome X, 99924348: 99924348
24 SRPX2 NM_014467.2(SRPX2): c.1199A> G (p.Asn400Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs141292909 GRCh38 Chromosome X, 100669351: 100669351
25 SRPX2 NM_014467.2(SRPX2): c.646G> A (p.Gly216Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs758845090 GRCh37 Chromosome X, 99920353: 99920353
26 SRPX2 NM_014467.2(SRPX2): c.646G> A (p.Gly216Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs758845090 GRCh38 Chromosome X, 100665356: 100665356
27 SRPX2 NM_014467.2(SRPX2): c.449C> T (p.Ser150Phe) single nucleotide variant Likely benign rs373847965 GRCh38 Chromosome X, 100664867: 100664867
28 SRPX2 NM_014467.2(SRPX2): c.449C> T (p.Ser150Phe) single nucleotide variant Likely benign rs373847965 GRCh37 Chromosome X, 99919864: 99919864
29 SRPX2 NM_014467.2(SRPX2): c.160C> A (p.Arg54=) single nucleotide variant Uncertain significance rs772122754 GRCh37 Chromosome X, 99905859: 99905859
30 SRPX2 NM_014467.2(SRPX2): c.160C> A (p.Arg54=) single nucleotide variant Uncertain significance rs772122754 GRCh38 Chromosome X, 100650862: 100650862
31 SRPX2 NM_014467.2(SRPX2): c.1028G> A (p.Arg343Gln) single nucleotide variant Uncertain significance rs1060502322 GRCh37 Chromosome X, 99922337: 99922337
32 SRPX2 NM_014467.2(SRPX2): c.1028G> A (p.Arg343Gln) single nucleotide variant Uncertain significance rs1060502322 GRCh38 Chromosome X, 100667340: 100667340
33 SRPX2 NC_000023.11: g.(?_100644166)_(100671299_?)del deletion Uncertain significance GRCh37 Chromosome X, 99899163: 99926296
34 SRPX2 NC_000023.11: g.(?_100644166)_(100671299_?)del deletion Uncertain significance GRCh38 Chromosome X, 100644166: 100671299
35 SRPX2 NM_014467.2(SRPX2): c.161G> A (p.Arg54Gln) single nucleotide variant Uncertain significance rs761225832 GRCh37 Chromosome X, 99905860: 99905860
36 SRPX2 NM_014467.2(SRPX2): c.161G> A (p.Arg54Gln) single nucleotide variant Uncertain significance rs761225832 GRCh38 Chromosome X, 100650863: 100650863
37 SRPX2 NM_014467.2(SRPX2): c.305C> T (p.Ser102Leu) single nucleotide variant Uncertain significance rs1237471672 GRCh37 Chromosome X, 99917314: 99917314
38 SRPX2 NM_014467.2(SRPX2): c.305C> T (p.Ser102Leu) single nucleotide variant Uncertain significance rs1237471672 GRCh38 Chromosome X, 100662317: 100662317
39 SRPX2 NM_014467.2(SRPX2): c.1289G> A (p.Arg430His) single nucleotide variant Uncertain significance rs183378773 GRCh37 Chromosome X, 99925875: 99925875
40 SRPX2 NM_014467.2(SRPX2): c.1289G> A (p.Arg430His) single nucleotide variant Uncertain significance rs183378773 GRCh38 Chromosome X, 100670878: 100670878
41 SRPX2 NM_014467.2(SRPX2): c.174G> C (p.Trp58Cys) single nucleotide variant Uncertain significance rs1354537844 GRCh38 Chromosome X, 100662186: 100662186
42 SRPX2 NM_014467.2(SRPX2): c.174G> C (p.Trp58Cys) single nucleotide variant Uncertain significance rs1354537844 GRCh37 Chromosome X, 99917183: 99917183
43 SRPX2 NM_014467.2(SRPX2): c.329G> A (p.Arg110His) single nucleotide variant Uncertain significance rs1176341753 GRCh38 Chromosome X, 100662341: 100662341
44 SRPX2 NM_014467.2(SRPX2): c.329G> A (p.Arg110His) single nucleotide variant Uncertain significance rs1176341753 GRCh37 Chromosome X, 99917338: 99917338
45 SRPX2 NM_014467.2(SRPX2): c.732T> C (p.Tyr244=) single nucleotide variant Likely benign rs1556013511 GRCh38 Chromosome X, 100665608: 100665608
46 SRPX2 NM_014467.2(SRPX2): c.732T> C (p.Tyr244=) single nucleotide variant Likely benign rs1556013511 GRCh37 Chromosome X, 99920605: 99920605
47 SRPX2 NM_014467.2(SRPX2): c.742T> C (p.Tyr248His) single nucleotide variant Uncertain significance rs1208754092 GRCh38 Chromosome X, 100665618: 100665618
48 SRPX2 NM_014467.2(SRPX2): c.742T> C (p.Tyr248His) single nucleotide variant Uncertain significance rs1208754092 GRCh37 Chromosome X, 99920615: 99920615
49 SRPX2 NM_014467.2(SRPX2): c.99G> T (p.Pro33=) single nucleotide variant Likely benign rs766670891 GRCh38 Chromosome X, 100650801: 100650801
50 SRPX2 NM_014467.2(SRPX2): c.99G> T (p.Pro33=) single nucleotide variant Likely benign rs766670891 GRCh37 Chromosome X, 99905798: 99905798

Expression for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia,...

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

Pathways for Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia,...

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

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