RESDX
MCID: RLN001
MIFTS: 23

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 57 70
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia 57 36 13
Rolandic Epilepsy with Mental Retardation and Speech Dyspraxia, X-Linked 29 6
Resdx 57 72
Rolandic Epilepsy with Speech Dyspraxia and Mental Retardation X-Linked 72
Epilepsy, Rolandic, Mental Retardation, and Speech Dyspraxia 39

Characteristics:

HPO:

31
rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 300643
KEGG 36 H01827
MedGen 41 C1845070
UMLS 70 C1845070

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

UniProtKB/Swiss-Prot : 72 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, mental retardation, and speech dyspraxia, 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), and among its related pathways/superpathways is Glutamatergic synapse. Affiliated tissues include cortex, and related phenotypes are intellectual disability, mild and focal-onset seizure

KEGG : 36 Rolandic epilepsy is the most frequent childhood focal epilepsy. Mutations in GRIN2A has been detected in atypical rolandic epilepsy associated with verbal dyspraxia or with dysphasia. Recently, SRPX2 has been identified as being responsible for rolandic epilepsy associated with speech dyspraxia and mental retardation.

More information 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 11.9

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

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

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability, mild 31 HP:0001256
2 focal-onset seizure 31 HP:0007359
3 speech apraxia 31 HP:0011098
4 frontoparietal polymicrogyria 31 HP:0007095

Clinical features from OMIM®:

300643 (Updated 20-May-2021)

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 29 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:

40
Cortex

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

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

# Title Authors PMID Year
1
SRPX2 mutations in disorders of language cortex and cognition. 57 6
16497722 2006
2
Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR. 61 6
18718938 2008
3
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. 57
24995671 2014
4
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. 57
23933820 2013
5
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. 57
23871722 2013
6
Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero. 6
23831613 2013

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

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

6 (show top 50) (show all 68)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SRPX2 NM_014467.3(SRPX2):c.1183C>T (p.Gln395Ter) SNV Pathogenic 915418 GRCh37: X:99924332-99924332
GRCh38: X:100669335-100669335
2 SRPX2 NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) SNV Conflicting interpretations of pathogenicity 207395 rs149051060 GRCh37: X:99922339-99922339
GRCh38: X:100667342-100667342
3 SRPX2 NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) SNV Conflicting interpretations of pathogenicity 10775 rs121918363 GRCh37: X:99922289-99922289
GRCh38: X:100667292-100667292
4 SRPX2 NM_014467.3(SRPX2):c.605G>A (p.Arg202Gln) SNV Uncertain significance 95601 rs200784551 GRCh37: X:99920312-99920312
GRCh38: X:100665315-100665315
5 SRPX2 NM_014467.3(SRPX2):c.1199A>G (p.Asn400Ser) SNV Uncertain significance 207384 rs141292909 GRCh37: X:99924348-99924348
GRCh38: X:100669351-100669351
6 SRPX2 NC_000023.11:g.(?_100644166)_(100671299_?)del Deletion Uncertain significance 417465 GRCh37: X:99899163-99926296
GRCh38: X:100644166-100671299
7 SRPX2 NM_014467.3(SRPX2):c.560C>T (p.Pro187Leu) SNV Uncertain significance 592112 rs1569361725 GRCh37: X:99920267-99920267
GRCh38: X:100665270-100665270
8 SRPX2 NC_000023.11:g.(?_100646303)_(100671007_?)dup Duplication Uncertain significance 833080 GRCh37: X:99901300-99926004
GRCh38:
9 SRPX2 NM_014467.3(SRPX2):c.602C>T (p.Ala201Val) SNV Uncertain significance 804061 rs915881767 GRCh37: X:99920309-99920309
GRCh38: X:100665312-100665312
10 SRPX2 NM_014467.3(SRPX2):c.706G>C (p.Glu236Gln) SNV Uncertain significance 648942 rs754500495 GRCh37: X:99920579-99920579
GRCh38: X:100665582-100665582
11 SRPX2 NM_014467.3(SRPX2):c.202G>A (p.Glu68Lys) SNV Uncertain significance 664168 rs747055996 GRCh37: X:99917211-99917211
GRCh38: X:100662214-100662214
12 SRPX2 NM_014467.3(SRPX2):c.161G>A (p.Arg54Gln) SNV Uncertain significance 409283 rs761225832 GRCh37: X:99905860-99905860
GRCh38: X:100650863-100650863
13 SRPX2 NM_014467.3(SRPX2):c.329G>A (p.Arg110His) SNV Uncertain significance 465069 rs1176341753 GRCh37: X:99917338-99917338
GRCh38: X:100662341-100662341
14 SRPX2 NM_014467.3(SRPX2):c.174G>C (p.Trp58Cys) SNV Uncertain significance 465067 rs1354537844 GRCh37: X:99917183-99917183
GRCh38: X:100662186-100662186
15 SRPX2 NM_014467.3(SRPX2):c.1289G>A (p.Arg430His) SNV Uncertain significance 465066 rs183378773 GRCh37: X:99925875-99925875
GRCh38: X:100670878-100670878
16 SRPX2 NM_014467.3(SRPX2):c.305C>T (p.Ser102Leu) SNV Uncertain significance 465068 rs1237471672 GRCh37: X:99917314-99917314
GRCh38: X:100662317-100662317
17 SRPX2 NM_014467.3(SRPX2):c.1276A>G (p.Ile426Val) SNV Uncertain significance 940180 GRCh37: X:99925862-99925862
GRCh38: X:100670865-100670865
18 SRPX2 NM_014467.3(SRPX2):c.17C>T (p.Thr6Ile) SNV Uncertain significance 533650 rs1556010625 GRCh37: X:99901336-99901336
GRCh38: X:100646339-100646339
19 SRPX2 NM_014467.3(SRPX2):c.1144G>A (p.Val382Met) SNV Uncertain significance 533651 rs148241932 GRCh37: X:99924293-99924293
GRCh38: X:100669296-100669296
20 SRPX2 NM_014467.3(SRPX2):c.1313A>T (p.Glu438Val) SNV Uncertain significance 574675 rs1047926579 GRCh37: X:99925899-99925899
GRCh38: X:100670902-100670902
21 SRPX2 NM_014467.3(SRPX2):c.1011A>G (p.Gln337=) SNV Uncertain significance 583178 rs146920180 GRCh37: X:99922320-99922320
GRCh38: X:100667323-100667323
22 SRPX2 NM_014467.3(SRPX2):c.646G>A (p.Gly216Ser) SNV Uncertain significance 284208 rs758845090 GRCh37: X:99920353-99920353
GRCh38: X:100665356-100665356
23 SRPX2 NM_014467.3(SRPX2):c.920A>G (p.Gln307Arg) SNV Uncertain significance 198858 rs147757229 GRCh37: X:99921889-99921889
GRCh38: X:100666892-100666892
24 SRPX2 NM_014467.3(SRPX2):c.99G>A (p.Pro33=) SNV Uncertain significance 863684 GRCh37: X:99905798-99905798
GRCh38: X:100650801-100650801
25 SRPX2 NM_014467.3(SRPX2):c.57G>A (p.Pro19=) SNV Uncertain significance 1002630 GRCh37: X:99901376-99901376
GRCh38: X:100646379-100646379
26 SRPX2 NM_014467.3(SRPX2):c.371C>T (p.Ala124Val) SNV Uncertain significance 1007485 GRCh37: X:99919786-99919786
GRCh38: X:100664789-100664789
27 SRPX2 NM_014467.3(SRPX2):c.1028G>A (p.Arg343Gln) SNV Uncertain significance 409284 rs1060502322 GRCh37: X:99922337-99922337
GRCh38: X:100667340-100667340
28 SRPX2 NM_014467.3(SRPX2):c.981C>G (p.Asn327Lys) SNV Uncertain significance 199131 rs370033099 GRCh37: X:99922290-99922290
GRCh38: X:100667293-100667293
29 SRPX2 NM_014467.3(SRPX2):c.1238G>A (p.Arg413His) SNV Uncertain significance 566880 rs761966457 GRCh37: X:99925824-99925824
GRCh38: X:100670827-100670827
30 SRPX2 NM_014467.3(SRPX2):c.1229G>A (p.Arg410His) SNV Uncertain significance 207386 rs368571175 GRCh37: X:99925815-99925815
GRCh38: X:100670818-100670818
31 SRPX2 NM_014467.3(SRPX2):c.737G>A (p.Arg246Gln) SNV Uncertain significance 590220 rs146063801 GRCh37: X:99920610-99920610
GRCh38: X:100665613-100665613
32 SRPX2 NM_014467.3(SRPX2):c.117A>C (p.Glu39Asp) SNV Uncertain significance 937859 GRCh37: X:99905816-99905816
GRCh38: X:100650819-100650819
33 SRPX2 NM_014467.3(SRPX2):c.1255G>A (p.Val419Met) SNV Uncertain significance 212309 rs797046012 GRCh37: X:99925841-99925841
GRCh38: X:100670844-100670844
34 SRPX2 NM_014467.3(SRPX2):c.1129A>G (p.Thr377Ala) SNV Uncertain significance 1013627 GRCh37: X:99924278-99924278
GRCh38: X:100669281-100669281
35 SRPX2 NM_014467.3(SRPX2):c.554G>T (p.Arg185Leu) SNV Uncertain significance 1022758 GRCh37: X:99920261-99920261
GRCh38: X:100665264-100665264
36 SRPX2 NM_014467.3(SRPX2):c.553C>T (p.Arg185Cys) SNV Uncertain significance 1025666 GRCh37: X:99920260-99920260
GRCh38: X:100665263-100665263
37 SRPX2 NM_014467.3(SRPX2):c.725C>G (p.Thr242Ser) SNV Uncertain significance 845761 GRCh37: X:99920598-99920598
GRCh38: X:100665601-100665601
38 SRPX2 NM_014467.3(SRPX2):c.248T>C (p.Leu83Pro) SNV Uncertain significance 207388 rs141168255 GRCh37: X:99917257-99917257
GRCh38: X:100662260-100662260
39 SRPX2 NM_014467.3(SRPX2):c.112_163+10dup Duplication Uncertain significance 1035311 GRCh37: X:99905809-99905810
GRCh38: X:100650812-100650813
40 SRPX2 NM_014467.3(SRPX2):c.656C>G (p.Thr219Ser) SNV Uncertain significance 1038364 GRCh37: X:99920363-99920363
GRCh38: X:100665366-100665366
41 SRPX2 NM_014467.3(SRPX2):c.961+1G>A SNV Uncertain significance 1041828 GRCh37: X:99921931-99921931
GRCh38: X:100666934-100666934
42 SRPX2 NM_014467.3(SRPX2):c.1288C>T (p.Arg430Cys) SNV Uncertain significance 1044918 GRCh37: X:99925874-99925874
GRCh38: X:100670877-100670877
43 SRPX2 NM_014467.3(SRPX2):c.893G>A (p.Arg298His) SNV Uncertain significance 207393 rs369663551 GRCh37: X:99921862-99921862
GRCh38: X:100666865-100666865
44 SRPX2 NM_014467.3(SRPX2):c.160C>A (p.Arg54=) SNV Uncertain significance 409285 rs772122754 GRCh37: X:99905859-99905859
GRCh38: X:100650862-100650862
45 SRPX2 NM_014467.3(SRPX2):c.742T>C (p.Tyr248His) SNV Uncertain significance 465071 rs1208754092 GRCh37: X:99920615-99920615
GRCh38: X:100665618-100665618
46 SRPX2 NM_014467.3(SRPX2):c.1143G>A (p.Leu381=) SNV Uncertain significance 840631 GRCh37: X:99924292-99924292
GRCh38: X:100669295-100669295
47 SRPX2 NM_014467.3(SRPX2):c.431G>A (p.Arg144His) SNV Uncertain significance 941335 GRCh37: X:99919846-99919846
GRCh38: X:100664849-100664849
48 SRPX2 NM_014467.3(SRPX2):c.586C>A (p.Pro196Thr) SNV Uncertain significance 945500 GRCh37: X:99920293-99920293
GRCh38: X:100665296-100665296
49 SRPX2 NM_014467.3(SRPX2):c.370G>A (p.Ala124Thr) SNV Uncertain significance 948344 GRCh37: X:99919785-99919785
GRCh38: X:100664788-100664788
50 SRPX2 NM_014467.3(SRPX2):c.1046C>G (p.Ala349Gly) SNV Uncertain significance 972034 GRCh37: X:99922355-99922355
GRCh38: X:100667358-100667358

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,...

Pathways related to Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked according to KEGG:

36
# Name Kegg Source Accession
1 Glutamatergic synapse hsa04724

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

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

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....