XELBD
MCID: EPL021
MIFTS: 18

Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders (XELBD)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, X-Linked, with Variable Learning Disabilities and...

MalaCards integrated aliases for Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:

Name: Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 58 30 13 6 41
Epilepsy X-Linked, with Variable Learning Disabilities and Behavior Disorders 76
X-Linked Epilepsy-Learning Disabilities-Behavior Disorders Syndrome 60
Xelbd 76

Characteristics:

Orphanet epidemiological data:

60
x-linked epilepsy-learning disabilities-behavior disorders syndrome
Inheritance: X-linked recessive; Age of onset: Childhood;

OMIM:

58
Inheritance:
x-linked recessive
x-linked dominant

Miscellaneous:
affected patients have various combinations of the main clinical features
carrier females may be affected


HPO:

33
epilepsy, x-linked, with variable learning disabilities and behavior disorders:
Inheritance x-linked dominant inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 300491
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1845343
Orphanet 60 ORPHA85294
MedGen 43 C1845343

Summaries for Epilepsy, X-Linked, with Variable Learning Disabilities and...

UniProtKB/Swiss-Prot : 76 Epilepsy X-linked, with variable learning disabilities and behavior disorders: A neurologic disorder characterized by variable combinations of epilepsy, learning difficulties, macrocephaly, and aggressive behavior.

MalaCards based summary : Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders, is also known as epilepsy x-linked, with variable learning disabilities and behavior disorders. An important gene associated with Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders is SYN1 (Synapsin I). Related phenotypes are macrocephaly and seizures

Description from OMIM: 300491

Related Diseases for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Symptoms & Phenotypes for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Human phenotypes related to Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 60 33 occasional (7.5%) Very frequent (99-80%) HP:0000256
2 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
3 specific learning disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001328
4 aggressive behavior 60 33 hallmark (90%) Very frequent (99-80%) HP:0000718
5 focal-onset seizure 33 HP:0007359
6 autistic behavior 33 HP:0000729

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
partial epilepsy

Head And Neck Head:
macrocephaly (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
learning difficulties
autism spectrum disorders

Clinical features from OMIM:

300491

Drugs & Therapeutics for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Search Clinical Trials , NIH Clinical Center for Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders

Genetic Tests for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Genetic tests related to Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:

# Genetic test Affiliating Genes
1 Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders 30 SYN1

Anatomical Context for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Publications for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Articles related to Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:

# Title Authors Year
1
Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity. ( 23406870 )
2013
2
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function. ( 21441247 )
2011
3
Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy. ( 14985377 )
2004

Variations for Epilepsy, X-Linked, with Variable Learning Disabilities and...

ClinVar genetic disease variations for Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders:

6 (show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 SYN1 NM_006950.3(SYN1): c.1067G> A (p.Trp356Ter) single nucleotide variant Pathogenic rs137852560 GRCh37 Chromosome X, 47435621: 47435621
2 SYN1 NM_006950.3(SYN1): c.1067G> A (p.Trp356Ter) single nucleotide variant Pathogenic rs137852560 GRCh38 Chromosome X, 47576222: 47576222
3 SYN1 NM_006950.3(SYN1): c.1663C> T (p.Gln555Ter) single nucleotide variant Pathogenic rs397514679 GRCh37 Chromosome X, 47433720: 47433720
4 SYN1 NM_006950.3(SYN1): c.1663C> T (p.Gln555Ter) single nucleotide variant Pathogenic rs397514679 GRCh38 Chromosome X, 47574321: 47574321
5 SYN1 NM_006950.3(SYN1): c.1648G> A (p.Ala550Thr) single nucleotide variant Pathogenic rs397514680 GRCh37 Chromosome X, 47433735: 47433735
6 SYN1 NM_006950.3(SYN1): c.1648G> A (p.Ala550Thr) single nucleotide variant Pathogenic rs397514680 GRCh38 Chromosome X, 47574336: 47574336
7 SYN1 NM_133499.2(SYN1): c.1699A> G (p.Thr567Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs200533370 GRCh37 Chromosome X, 47433684: 47433684
8 SYN1 NM_133499.2(SYN1): c.1699A> G (p.Thr567Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs200533370 GRCh38 Chromosome X, 47574285: 47574285
9 SYN1 NM_133499.2(SYN1): c.1107C> T (p.Ile369=) single nucleotide variant Conflicting interpretations of pathogenicity rs150248483 GRCh37 Chromosome X, 47435581: 47435581
10 SYN1 NM_133499.2(SYN1): c.1107C> T (p.Ile369=) single nucleotide variant Conflicting interpretations of pathogenicity rs150248483 GRCh38 Chromosome X, 47576182: 47576182
11 SYN1 NM_133499.2(SYN1): c.838-8T> G single nucleotide variant Benign rs12394306 GRCh37 Chromosome X, 47436047: 47436047
12 SYN1 NM_133499.2(SYN1): c.838-8T> G single nucleotide variant Benign rs12394306 GRCh38 Chromosome X, 47576648: 47576648
13 SYN1 NM_133499.2(SYN1): c.912C> T (p.Ala304=) single nucleotide variant Benign rs62636605 GRCh37 Chromosome X, 47435965: 47435965
14 SYN1 NM_133499.2(SYN1): c.912C> T (p.Ala304=) single nucleotide variant Benign rs62636605 GRCh38 Chromosome X, 47576566: 47576566
15 SYN1 NM_133499.2(SYN1): c.152C> G (p.Ala51Gly) single nucleotide variant Benign rs187134574 GRCh37 Chromosome X, 47478976: 47478976
16 SYN1 NM_133499.2(SYN1): c.152C> G (p.Ala51Gly) single nucleotide variant Benign rs187134574 GRCh38 Chromosome X, 47619577: 47619577
17 SYN1 NM_133499.2(SYN1): c.1325T> C (p.Leu442Pro) single nucleotide variant Uncertain significance rs375440874 GRCh37 Chromosome X, 47434155: 47434155
18 SYN1 NM_133499.2(SYN1): c.1325T> C (p.Leu442Pro) single nucleotide variant Uncertain significance rs375440874 GRCh38 Chromosome X, 47574756: 47574756
19 SYN1 NM_133499.2(SYN1): c.1615G> A (p.Gly539Ser) single nucleotide variant Uncertain significance rs794727076 GRCh37 Chromosome X, 47433768: 47433768
20 SYN1 NM_133499.2(SYN1): c.1615G> A (p.Gly539Ser) single nucleotide variant Uncertain significance rs794727076 GRCh38 Chromosome X, 47574369: 47574369
21 SYN1 NM_133499.2(SYN1): c.1056-14_1056-8delCTTTGTC deletion Benign rs377385507 GRCh37 Chromosome X, 47435640: 47435646
22 SYN1 NM_133499.2(SYN1): c.1056-14_1056-8delCTTTGTC deletion Benign rs377385507 GRCh38 Chromosome X, 47576241: 47576247
23 SYN1 NM_133499.2(SYN1): c.1968G> A (p.Pro656=) single nucleotide variant Benign/Likely benign rs199844514 GRCh37 Chromosome X, 47433415: 47433415
24 SYN1 NM_133499.2(SYN1): c.1968G> A (p.Pro656=) single nucleotide variant Benign/Likely benign rs199844514 GRCh38 Chromosome X, 47574016: 47574016
25 SYN1 NM_133499.2(SYN1): c.1961G> A (p.Gly654Glu) single nucleotide variant Uncertain significance rs749342768 GRCh37 Chromosome X, 47433422: 47433422
26 SYN1 NM_133499.2(SYN1): c.1961G> A (p.Gly654Glu) single nucleotide variant Uncertain significance rs749342768 GRCh38 Chromosome X, 47574023: 47574023
27 SYN1 NM_133499.2(SYN1): c.1297C> T (p.His433Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs41298474 GRCh37 Chromosome X, 47434535: 47434535
28 SYN1 NM_133499.2(SYN1): c.1297C> T (p.His433Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs41298474 GRCh38 Chromosome X, 47575136: 47575136
29 SYN1 NM_133499.2(SYN1): c.1110C> T (p.Cys370=) single nucleotide variant Benign/Likely benign rs141925310 GRCh37 Chromosome X, 47435578: 47435578
30 SYN1 NM_133499.2(SYN1): c.1110C> T (p.Cys370=) single nucleotide variant Benign/Likely benign rs141925310 GRCh38 Chromosome X, 47576179: 47576179
31 SYN1 NM_133499.2(SYN1): c.526C> T (p.Arg176Trp) single nucleotide variant Uncertain significance rs769458536 GRCh38 Chromosome X, 47606946: 47606946
32 SYN1 NM_133499.2(SYN1): c.526C> T (p.Arg176Trp) single nucleotide variant Uncertain significance rs769458536 GRCh37 Chromosome X, 47466345: 47466345
33 SYN1 NM_133499.2(SYN1): c.426A> G (p.Lys142=) single nucleotide variant Conflicting interpretations of pathogenicity rs145911562 GRCh37 Chromosome X, 47466549: 47466549
34 SYN1 NM_133499.2(SYN1): c.426A> G (p.Lys142=) single nucleotide variant Conflicting interpretations of pathogenicity rs145911562 GRCh38 Chromosome X, 47607150: 47607150
35 SYN1 NM_133499.2(SYN1): c.189G> T (p.Pro63=) single nucleotide variant Likely benign rs371739376 GRCh37 Chromosome X, 47478939: 47478939
36 SYN1 NM_133499.2(SYN1): c.189G> T (p.Pro63=) single nucleotide variant Likely benign rs371739376 GRCh38 Chromosome X, 47619540: 47619540
37 SYN1 NM_133499.2(SYN1): c.883G> A (p.Val295Met) single nucleotide variant Uncertain significance rs1085307749 GRCh37 Chromosome X, 47435994: 47435994
38 SYN1 NM_133499.2(SYN1): c.883G> A (p.Val295Met) single nucleotide variant Uncertain significance rs1085307749 GRCh38 Chromosome X, 47576595: 47576595
39 SYN1 NM_133499.2(SYN1): c.1701A> T (p.Thr567=) single nucleotide variant Likely benign rs770195822 GRCh37 Chromosome X, 47433682: 47433682
40 SYN1 NM_133499.2(SYN1): c.1701A> T (p.Thr567=) single nucleotide variant Likely benign rs770195822 GRCh38 Chromosome X, 47574283: 47574283
41 SYN1 NM_133499.2(SYN1): c.1063C> T (p.Leu355=) single nucleotide variant Likely benign rs191822319 GRCh38 Chromosome X, 47576226: 47576226
42 SYN1 NM_133499.2(SYN1): c.1063C> T (p.Leu355=) single nucleotide variant Likely benign rs191822319 GRCh37 Chromosome X, 47435625: 47435625
43 SYN1 NM_133499.2(SYN1): c.756C> T (p.Tyr252=) single nucleotide variant Likely benign rs1556860614 GRCh38 Chromosome X, 47604996: 47604996
44 SYN1 NM_133499.2(SYN1): c.756C> T (p.Tyr252=) single nucleotide variant Likely benign rs1556860614 GRCh37 Chromosome X, 47464395: 47464395
45 SYN1 NM_133499.2(SYN1): c.579A> G (p.Ala193=) single nucleotide variant Likely benign rs1556860653 GRCh38 Chromosome X, 47605328: 47605328
46 SYN1 NM_133499.2(SYN1): c.579A> G (p.Ala193=) single nucleotide variant Likely benign rs1556860653 GRCh37 Chromosome X, 47464727: 47464727
47 SYN1 NM_133499.2(SYN1): c.528-2A> T single nucleotide variant Likely pathogenic rs1556860663 GRCh37 Chromosome X, 47464780: 47464780
48 SYN1 NM_133499.2(SYN1): c.528-2A> T single nucleotide variant Likely pathogenic rs1556860663 GRCh38 Chromosome X, 47605381: 47605381
49 SYN1 NM_133499.2(SYN1): c.473A> G (p.Asn158Ser) single nucleotide variant Uncertain significance rs765486966 GRCh38 Chromosome X, 47606999: 47606999
50 SYN1 NM_133499.2(SYN1): c.473A> G (p.Asn158Ser) single nucleotide variant Uncertain significance rs765486966 GRCh37 Chromosome X, 47466398: 47466398

Expression for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Search GEO for disease gene expression data for Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders.

Pathways for Epilepsy, X-Linked, with Variable Learning Disabilities and...

GO Terms for Epilepsy, X-Linked, with Variable Learning Disabilities and...

Sources for Epilepsy, X-Linked, with Variable Learning Disabilities and...

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