MCID: RLN001
MIFTS: 17

Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked

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, X-Linked:

Name: Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 57 73
Rolandic Epilepsy with Mental Retardation and Speech Dyspraxia, X-Linked 29 6
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia 57 13
Resdx 57 75
Rolandic Epilepsy with Speech Dyspraxia and Mental Retardation X-Linked 75
Epilepsy, Rolandic, Mental Retardation, and Speech Dyspraxia 40

Characteristics:

HPO:

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


Classifications:



External Ids:

OMIM 57 300643
MedGen 42 C1845070
UMLS 73 C1845070

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

UniProtKB/Swiss-Prot : 75 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 related phenotypes are intellectual disability, mild and focal seizures

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 12.1

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, X-Linked:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability, mild 32 HP:0001256
2 focal seizures 32 HP:0007359
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, 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:

41
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, X-Linked:

75
# 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 all 44)
# 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
2 SRPX2 NM_014467.2(SRPX2): c.215A> C (p.Tyr72Ser) single nucleotide variant Pathogenic rs121918364 GRCh38 Chromosome X, 100662227: 100662227
3 SRPX2 NM_014467.2(SRPX2): c.693C> A (p.His231Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs142719253 GRCh37 Chromosome X, 99920566: 99920566
4 SRPX2 NM_014467.2(SRPX2): c.693C> A (p.His231Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs142719253 GRCh38 Chromosome X, 100665569: 100665569
5 SRPX2 NM_014467.2(SRPX2): c.981C> G (p.Asn327Lys) single nucleotide variant Uncertain significance rs370033099 GRCh37 Chromosome X, 99922290: 99922290
6 SRPX2 NM_014467.2(SRPX2): c.981C> G (p.Asn327Lys) single nucleotide variant Uncertain significance rs370033099 GRCh38 Chromosome X, 100667293: 100667293
7 SRPX2 NM_014467.2(SRPX2): c.481C> A (p.Arg161=) single nucleotide variant Benign rs150552508 GRCh37 Chromosome X, 99919896: 99919896
8 SRPX2 NM_014467.2(SRPX2): c.481C> A (p.Arg161=) single nucleotide variant Benign rs150552508 GRCh38 Chromosome X, 100664899: 100664899
9 SRPX2 NM_014467.2(SRPX2): c.809C> T (p.Pro270Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148735447 GRCh38 Chromosome X, 100666781: 100666781
10 SRPX2 NM_014467.2(SRPX2): c.809C> T (p.Pro270Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs148735447 GRCh37 Chromosome X, 99921778: 99921778
11 SRPX2 NM_014467.2(SRPX2): c.1030C> A (p.Leu344Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149051060 GRCh37 Chromosome X, 99922339: 99922339
12 SRPX2 NM_014467.2(SRPX2): c.1030C> A (p.Leu344Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149051060 GRCh38 Chromosome X, 100667342: 100667342
13 SRPX2 NM_014467.2(SRPX2): c.646G> A (p.Gly216Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs758845090 GRCh37 Chromosome X, 99920353: 99920353
14 SRPX2 NM_014467.2(SRPX2): c.646G> A (p.Gly216Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs758845090 GRCh38 Chromosome X, 100665356: 100665356
15 SRPX2 NM_014467.2(SRPX2): c.449C> T (p.Ser150Phe) single nucleotide variant Likely benign rs373847965 GRCh37 Chromosome X, 99919864: 99919864
16 SRPX2 NM_014467.2(SRPX2): c.449C> T (p.Ser150Phe) single nucleotide variant Likely benign rs373847965 GRCh38 Chromosome X, 100664867: 100664867
17 SRPX2 NM_014467.2(SRPX2): c.160C> A (p.Arg54=) single nucleotide variant Uncertain significance rs772122754 GRCh37 Chromosome X, 99905859: 99905859
18 SRPX2 NM_014467.2(SRPX2): c.160C> A (p.Arg54=) single nucleotide variant Uncertain significance rs772122754 GRCh38 Chromosome X, 100650862: 100650862
19 SRPX2 NM_014467.2(SRPX2): c.1028G> A (p.Arg343Gln) single nucleotide variant Uncertain significance rs1060502322 GRCh37 Chromosome X, 99922337: 99922337
20 SRPX2 NM_014467.2(SRPX2): c.1028G> A (p.Arg343Gln) single nucleotide variant Uncertain significance rs1060502322 GRCh38 Chromosome X, 100667340: 100667340
21 SRPX2 NC_000023.11: g.(?_100644166)_(100671299_?)del deletion Uncertain significance GRCh37 Chromosome X, 99899163: 99926296
22 SRPX2 NC_000023.11: g.(?_100644166)_(100671299_?)del deletion Uncertain significance GRCh38 Chromosome X, 100644166: 100671299
23 SRPX2 NM_014467.2(SRPX2): c.161G> A (p.Arg54Gln) single nucleotide variant Uncertain significance rs761225832 GRCh38 Chromosome X, 100650863: 100650863
24 SRPX2 NM_014467.2(SRPX2): c.161G> A (p.Arg54Gln) single nucleotide variant Uncertain significance rs761225832 GRCh37 Chromosome X, 99905860: 99905860
25 SRPX2 NM_014467.2(SRPX2): c.305C> T (p.Ser102Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 99917314: 99917314
26 SRPX2 NM_014467.2(SRPX2): c.305C> T (p.Ser102Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 100662317: 100662317
27 SRPX2 NM_014467.2(SRPX2): c.1289G> A (p.Arg430His) single nucleotide variant Uncertain significance rs183378773 GRCh37 Chromosome X, 99925875: 99925875
28 SRPX2 NM_014467.2(SRPX2): c.1289G> A (p.Arg430His) single nucleotide variant Uncertain significance rs183378773 GRCh38 Chromosome X, 100670878: 100670878
29 SRPX2 NM_014467.2(SRPX2): c.174G> C (p.Trp58Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 100662186: 100662186
30 SRPX2 NM_014467.2(SRPX2): c.174G> C (p.Trp58Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 99917183: 99917183
31 SRPX2 NM_014467.2(SRPX2): c.329G> A (p.Arg110His) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 99917338: 99917338
32 SRPX2 NM_014467.2(SRPX2): c.329G> A (p.Arg110His) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 100662341: 100662341
33 SRPX2 NM_014467.2(SRPX2): c.732T> C (p.Tyr244=) single nucleotide variant Likely benign GRCh38 Chromosome X, 100665608: 100665608
34 SRPX2 NM_014467.2(SRPX2): c.732T> C (p.Tyr244=) single nucleotide variant Likely benign GRCh37 Chromosome X, 99920605: 99920605
35 SRPX2 NM_014467.2(SRPX2): c.742T> C (p.Tyr248His) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 100665618: 100665618
36 SRPX2 NM_014467.2(SRPX2): c.742T> C (p.Tyr248His) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 99920615: 99920615
37 SRPX2 NM_014467.2(SRPX2): c.99G> T (p.Pro33=) single nucleotide variant Likely benign rs766670891 GRCh38 Chromosome X, 100650801: 100650801
38 SRPX2 NM_014467.2(SRPX2): c.99G> T (p.Pro33=) single nucleotide variant Likely benign rs766670891 GRCh37 Chromosome X, 99905798: 99905798
39 SRPX2 NM_014467.2(SRPX2): c.982G> A (p.Val328Ile) single nucleotide variant Likely benign rs753573260 GRCh38 Chromosome X, 100667294: 100667294
40 SRPX2 NM_014467.2(SRPX2): c.982G> A (p.Val328Ile) single nucleotide variant Likely benign rs753573260 GRCh37 Chromosome X, 99922291: 99922291
41 SRPX2 NM_014467.2(SRPX2): c.17C> T (p.Thr6Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome X, 100646339: 100646339
42 SRPX2 NM_014467.2(SRPX2): c.17C> T (p.Thr6Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 99901336: 99901336
43 SRPX2 NM_014467.2(SRPX2): c.1144G> A (p.Val382Met) single nucleotide variant Uncertain significance rs148241932 GRCh37 Chromosome X, 99924293: 99924293
44 SRPX2 NM_014467.2(SRPX2): c.1144G> A (p.Val382Met) single nucleotide variant Uncertain significance rs148241932 GRCh38 Chromosome X, 100669296: 100669296

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,...

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

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