PME
MCID: UNV001
MIFTS: 47

Unverricht-Lundborg Syndrome (PME)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Unverricht-Lundborg Syndrome

MalaCards integrated aliases for Unverricht-Lundborg Syndrome:

Name: Unverricht-Lundborg Syndrome 12 25 29 6 44 15 73
Unverricht-Lundborg Disease 12 24 53 25 59 37
Myoclonic Epilepsy of Unverricht and Lundborg 53 25
Epm1 53 25
Uld 25 59
Myoclonus Progressive Epilepsy of Unverricht and Lundborg 53
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy 53
Epilepsy, Progressive Myoclonic Type 1 53
Progressive Myoclonic Epilepsy Type 1 59
Progressive Myoclonus Epilepsy Type 1 59
Epilepsy, Progressive Myoclonus 1 53
Myoclonic Epilepsies, Progressive 73
Mediterranean Myoclonic Epilepsy 25
Progressive Myoclonus Epilepsy 1 25
Progressive Myoclonic Epilepsy 25
Unverricht - Lundborg Disease 12
Lundborg-Unverricht Syndrome 25
Unverrichtlundborg Disease 76
Baltic Myoclonic Epilepsy 25
Baltic Myoclonus Epilepsy 25
Unverricht's Disease 12
Baltic Myoclonus 25
Pme Type 1 59
Pme 25

Characteristics:

Orphanet epidemiological data:

59
unverricht-lundborg disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Childhood;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3535
MeSH 44 D020194
SNOMED-CT 68 89480000
Orphanet 59 ORPHA308
MESH via Orphanet 45 D020194
UMLS via Orphanet 74 C0751785
ICD10 via Orphanet 34 G40.3
KEGG 37 H01995

Summaries for Unverricht-Lundborg Syndrome

NIH Rare Diseases : 53 Unverricht-Lundborg disease (ULD) is an inherited form of progressive myoclonus epilepsy, a neurodegenerative disorder. Signs and symptoms typically begin during childhood or adolescence and worsen over time. Early symptoms include involuntary muscle jerking or twitching (stimulus-sensitive myoclonus) and tonic-clonic seizures. Episodes of myoclonus may be brought on by exercise, stress, light, or other stimuli (triggers). Over time, people with ULD develop ataxia, lack of coordination, intention tremor, and difficulty speaking (dysarthria). People with ULD may also develop emotional sensitivity, depression, and a mild impairment of intellectual performance over time. ULD is caused by mutations in the CSTB gene and inheritance is autosomal recessive. The diagnosis can be confirmed with genetic testing. Treatment aims to control symptoms and increase quality of life. Treatment typically includes medications to lessen the severity of myoclonus and the frequency of seizures, as well as psychosocial support. Myoclonus may be resistant to medications, while seizures can often be controlled. In the past, the life span of people with ULD was significantly shortened, but with advances in treatment and support, life expectancy now appears to be near normal.

MalaCards based summary : Unverricht-Lundborg Syndrome, also known as unverricht-lundborg disease, is related to myoclonic epilepsy of lafora and myoclonic epilepsy of unverricht and lundborg, and has symptoms including ataxia and myoclonus. An important gene associated with Unverricht-Lundborg Syndrome is CSTB (Cystatin B). The drugs Soy Bean and Brivaracetam have been mentioned in the context of this disorder. Affiliated tissues include testes and cortex, and related phenotypes are intellectual disability and dysarthria

Genetics Home Reference : 25 Unverricht-Lundborg disease is a rare inherited form of epilepsy. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15.

Wikipedia : 76 Unverricht�??Lundborg disease (abbreviated ULD or EPM1) is the most common form of an uncommon group of... more...

GeneReviews: NBK1142

Related Diseases for Unverricht-Lundborg Syndrome

Diseases related to Unverricht-Lundborg Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of lafora 33.1 CLN3 CSTB EPM2A NHLRC1
2 myoclonic epilepsy of unverricht and lundborg 32.2 CSTB EPM2A SCARB2
3 prickle1-related progressive myoclonus epilepsy with ataxia 32.0 PRICKLE1 TBC1D24
4 progressive myoclonus epilepsy 31.2 CSTB EPM2A KCNC1 NHLRC1 PRICKLE1 SCARB2
5 myoclonus 30.0 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
6 early myoclonic encephalopathy 29.9 CSTB EPM2A TBC1D24
7 epilepsy, idiopathic generalized 10 29.8 CSTB EFHC1 KCNQ3 TBC1D24
8 myoclonus epilepsy 29.6 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1 SCARB2
9 epilepsy 28.6 CSTB EFHC1 EPM2A KCNC1 KCNQ3 NHLRC1
10 spinal muscular atrophy with progressive myoclonic epilepsy 12.8
11 progressive myoclonic epilepsy type 5 12.2
12 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 12.0
13 epilepsy, progressive myoclonic 7 11.9
14 epilepsy, progressive myoclonic, 4, with or without renal failure 11.9
15 epilepsy, progressive myoclonic, 8 11.9
16 epilepsy, progressive myoclonic, 9 11.9
17 progressive myoclonus epilepsy, lafora type 11.8
18 epilepsy, progressive myoclonic, 6 11.8
19 spinal muscular atrophy 11.6
20 dystonia 11, myoclonic 11.3
21 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.3
22 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.2
23 epileptic encephalopathy, early infantile, 16 11.2
24 epilepsy progressive myoclonic type 3 11.2
25 gosr2-related progressive myoclonus ataxia 11.2
26 gaucher disease, type iii 11.1
27 encephalopathy, familial, with neuroserpin inclusion bodies 11.1
28 spastic ataxia 5, autosomal recessive 11.1
29 epilepsy, progressive myoclonic, 10 11.1
30 muscular atrophy 10.5
31 gaucher's disease 10.2
32 hyperostosis frontalis interna 10.2
33 neuronal ceroid-lipofuscinoses 10.2
34 scoliosis 10.2
35 hyperostosis 10.2
36 retinitis pigmentosa 10.1
37 leber congenital amaurosis 4 10.1
38 retinitis 10.1
39 supranuclear ocular palsy 10.1
40 mitochondrial encephalomyopathy 10.0
41 friedreich ataxia 1 10.0
42 fragile x syndrome 10.0
43 autosomal dominant cerebellar ataxia 10.0
44 myotonic dystrophy 10.0
45 myotonia atrophica 10.0
46 farber lipogranulomatosis 10.0
47 proximal spinal muscular atrophy 10.0
48 dentatorubral-pallidoluysian atrophy 10.0
49 myoclonus and ataxia 10.0
50 down syndrome 10.0

Graphical network of the top 20 diseases related to Unverricht-Lundborg Syndrome:



Diseases related to Unverricht-Lundborg Syndrome

Symptoms & Phenotypes for Unverricht-Lundborg Syndrome

Human phenotypes related to Unverricht-Lundborg Syndrome:

59 32 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 59 32 occasional (7.5%) Occasional (29-5%) HP:0001249
2 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
3 limb ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002070
4 intention tremor 59 32 frequent (33%) Frequent (79-30%) HP:0002080
5 eeg with polyspike wave complexes 59 32 hallmark (90%) Very frequent (99-80%) HP:0002392
6 morning myoclonic jerks 59 32 hallmark (90%) Very frequent (99-80%) HP:0007000
7 dementia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000726
8 cutaneous photosensitivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000992
9 ataxia 59 Frequent (79-30%)
10 myoclonus 59 Very frequent (99-80%)

UMLS symptoms related to Unverricht-Lundborg Syndrome:


ataxia, myoclonus

MGI Mouse Phenotypes related to Unverricht-Lundborg Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 CLN3 CSTB EFHC1 EPM2A GLRA1 KCNC1
2 cellular MP:0005384 9.86 CLN3 CSTB EFHC1 EPM2A GLRA1 NHLRC1
3 muscle MP:0005369 9.7 CSTB EFHC1 EPM2A GLRA1 KCNC1 NHLRC1
4 nervous system MP:0003631 9.7 CLN3 CSTB EFHC1 EPM2A GLRA1 KCNC1
5 no phenotypic analysis MP:0003012 9.02 CLN3 CSTB GLRA1 NHLRC1 PRICKLE1

Drugs & Therapeutics for Unverricht-Lundborg Syndrome

Drugs for Unverricht-Lundborg Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Soy Bean Phase 4
2
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
3 Anticonvulsants Phase 3
4 Pharmaceutical Solutions Phase 3,Not Applicable
5 Immunoglobulins Phase 3
6 Immunoglobulins, Intravenous Phase 3
7 Immunologic Factors Phase 3
8 gamma-Globulins Phase 3
9 Rho(D) Immune Globulin Phase 3
10 Antibodies Phase 3
11
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
12
Ropinirole Approved, Investigational Phase 2 91374-21-9, 91374-20-8 497540 5095
13 Antiparkinson Agents Phase 2
14 Dopamine agonists Phase 2
15 Dopamine Agents Phase 2
16 Neurotransmitter Agents Phase 2
17
Acetylcysteine Approved, Investigational Not Applicable 616-91-1 12035
18
Serine Approved, Nutraceutical 56-45-1 5951
19 Antiviral Agents Not Applicable
20 Expectorants Not Applicable
21 Antioxidants Not Applicable
22 Respiratory System Agents Not Applicable
23 Antidotes Not Applicable
24 Free Radical Scavengers Not Applicable
25 Anti-Infective Agents Not Applicable
26 N-monoacetylcystine Not Applicable
27 Protective Agents Not Applicable
28 Serine Proteinase Inhibitors
29 HIV Protease Inhibitors
30
protease inhibitors
31 Neuroserpin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Soy Polysaccharide Fiber for the Treatment of Chronic Constipation in Children: a Randomized, Double-blind Trial Completed NCT01267370 Phase 4
2 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and Adults Completed NCT00357669 Phase 3 Brivaracetam 25 mg;Brivaracetam 50 mg
3 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and Adults Completed NCT00368251 Phase 3 BRV 2.5 mg;BRV 25 mg;BRV 50 mg
4 Intravenous Immunoglobulin for Unverricht-Lundborg Disease. Active, not recruiting NCT03351569 Phase 3 Intravenous immunoglobulin
5 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
6 Intravenous High Dose NAC and Sodium Bicarbonate for the Prevention of Contrast-induced Acute Injury Completed NCT01612013 Not Applicable Sodium bicarbonate plus saline;Intravenous NAC plus saline;NAC plus sodium bicarbonate plus saline;Saline;NAC plus saline;NAC plus sodium bicarbonate plus saline
7 Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion Bodies Completed NCT00006176

Search NIH Clinical Center for Unverricht-Lundborg Syndrome

Cochrane evidence based reviews: unverricht-lundborg syndrome

Genetic Tests for Unverricht-Lundborg Syndrome

Genetic tests related to Unverricht-Lundborg Syndrome:

# Genetic test Affiliating Genes
1 Unverricht-Lundborg Syndrome 29 CSTB

Anatomical Context for Unverricht-Lundborg Syndrome

MalaCards organs/tissues related to Unverricht-Lundborg Syndrome:

41
Testes, Cortex

Publications for Unverricht-Lundborg Syndrome

Articles related to Unverricht-Lundborg Syndrome:

(show top 50) (show all 56)
# Title Authors Year
1
A clinical and neurophysiological motor signature of Unverricht-Lundborg disease. ( 28688606 )
2018
2
First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea. ( 29978618 )
2018
3
Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy. ( 30208654 )
2018
4
Perampanel in 12 patients with Unverricht-Lundborg disease. ( 28166365 )
2017
5
Variable course of Unverricht-Lundborg disease: Early prognostic factors. ( 28931642 )
2017
6
A Native Haitian Woman with Unverricht-Lundborg Disease. ( 29422850 )
2017
7
Brivaracetam in Unverricht-Lundborg disease (EPM1): Results from two randomized, double-blind, placebo-controlled studies. ( 26666500 )
2016
8
Long-term evolution of EEG in Unverricht-Lundborg disease. ( 27157382 )
2016
9
Unverricht-Lundborg disease. ( 27582036 )
2016
10
Reduced cortical activation in inferior frontal junction in Unverricht-Lundborg disease (EPM1) - A motor fMRI study. ( 25769376 )
2015
11
Characterization of a rare Unverricht-Lundborg disease mutation. ( 26937413 )
2015
12
EEG-EMG information flow in movement-activated myoclonus in patients with Unverricht-Lundborg disease. ( 24508192 )
2014
13
A shared haplotype indicates a founder event in Unverricht-Lundborg disease patients from Serbia. ( 23883076 )
2014
14
Seizure control in Unverricht-Lundborg disease: a single-centre study. ( 24777117 )
2014
15
Long-term follow-up of cortical hyperexcitability in Japanese Unverricht-Lundborg disease. ( 25023721 )
2014
16
Giant SEPs and SEP-recovery function in Unverricht-Lundborg disease. ( 23276489 )
2013
17
Alterations of motor cortical excitability and anatomy in Unverricht-Lundborg disease. ( 23925991 )
2013
18
Difficult differential diagnosis of Unverricht-Lundborg disease with spontaneous kinesogenic myoclonus and movement disorder. ( 22539245 )
2012
19
Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene. ( 22154554 )
2012
20
Sensorimotor, visual, and auditory cortical atrophy in Unverricht-Lundborg disease mapped with cortical thickness analysis. ( 22268086 )
2012
21
Loss of cortical GABA terminals in Unverricht-Lundborg disease. ( 22538221 )
2012
22
New neuropathological findings in Unverricht-Lundborg disease: neuronal intranuclear and cytoplasmic inclusions. ( 20721566 )
2011
23
A pilot open-label trial of zonisamide in Unverricht-Lundborg disease. ( 20939070 )
2011
24
Primary motor cortex alterations in a compound heterozygous form of Unverricht-Lundborg disease (EPM1). ( 21075014 )
2011
25
Abnormal ERD/ERS but unaffected BOLD response in patients with Unverricht-Lundborg disease during index extension: a simultaneous EEG-fMRI study. ( 21107673 )
2011
26
Decreased cortical excitability in Unverricht-Lundborg disease in the long-term follow-up: a consecutive SEP study. ( 21353634 )
2011
27
Motor cortical plasticity is impaired in Unverricht-Lundborg disease. ( 21661050 )
2011
28
Unverricht-Lundborg disease (EPM1). ( 20331711 )
2010
29
Simultaneous EEG-fMRI in patients with Unverricht-Lundborg disease: event-related desynchronization/synchronization and hemodynamic response analysis. ( 20111730 )
2010
30
Unverricht-Lundborg disease-a misnomer? ( 18512745 )
2009
31
The neuropsychological pattern of Unverricht-Lundborg disease. ( 19261441 )
2009
32
Death in Unverricht-Lundborg disease. ( 19499178 )
2009
33
Motor cortex and thalamic atrophy in Unverricht-Lundborg disease: voxel-based morphometric study. ( 19704079 )
2009
34
The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases. ( 17994572 )
2008
35
Molecular background of EPM1-Unverricht-Lundborg disease. ( 18028412 )
2008
36
Antiepileptic drug intervention decouples electroencephalogram (EEG) signals: a case study in Unverricht-Lundborg Disease. ( 19163112 )
2008
37
Long-term evolution of EEG in Unverricht-Lundborg disease. ( 17158032 )
2007
38
Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients. ( 16686650 )
2006
39
Movement-related desynchronization-synchronization (ERD/ERS) in patients with Unverricht-Lundborg disease. ( 16904345 )
2006
40
Lack of efficacy and potential aggravation of myoclonus with lamotrigine in Unverricht-Lundborg disease. ( 17201707 )
2006
41
A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. ( 15634728 )
2005
42
Sensorimotor cortex excitability in Unverricht-Lundborg disease and Lafora body disease. ( 15623692 )
2004
43
Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease. ( 12484571 )
2002
44
Unverricht-Lundborg disease with cystatin B gene abnormalities. ( 11814737 )
2002
45
Cortical sensorimotor alterations in Unverricht-Lundborg disease patients without generalized seizures. ( 11950503 )
2002
46
Clinical features and genetics of Unverricht-Lundborg disease. ( 11968445 )
2002
47
Brainstem involvement in Unverricht-Lundborg disease (EPM1): An MRI and (1)H MRS study. ( 12058102 )
2002
48
N-acetylcysteine and Unverricht-Lundborg disease: variable response and possible side effects. ( 12427904 )
2002
49
Unverricht-Lundborg disease in a five-generation Arab family: instability of dodecamer repeats. ( 11571333 )
2001
50
N-acetylcysteine therapy for Unverricht-Lundborg disease. ( 9932979 )
1999

Variations for Unverricht-Lundborg Syndrome

ClinVar genetic disease variations for Unverricht-Lundborg Syndrome:

6 (show top 50) (show all 63)
# Gene Variation Type Significance SNP ID Assembly Location
1 CSTB NM_000100.3(CSTB): c.67-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs147484110 GRCh37 Chromosome 21, 45194641: 45194641
2 CSTB NM_000100.3(CSTB): c.67-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs147484110 GRCh38 Chromosome 21, 43774760: 43774760
3 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh37 Chromosome 21, 45194178: 45194178
4 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh38 Chromosome 21, 43774297: 43774297
5 CSTB NM_000100.3(CSTB): c.10G> C (p.Gly4Arg) single nucleotide variant Pathogenic rs74315443 GRCh37 Chromosome 21, 45196141: 45196141
6 CSTB NM_000100.3(CSTB): c.10G> C (p.Gly4Arg) single nucleotide variant Pathogenic rs74315443 GRCh38 Chromosome 21, 43776260: 43776260
7 CSTB NM_000100.3(CSTB): c.-210CCCCGCCCCGCG(2_3) NT expansion Pathogenic rs193922905 GRCh37 Chromosome 21, 45196360: 45196371
8 CSTB NM_000100.3(CSTB): c.-210CCCCGCCCCGCG(2_3) NT expansion Pathogenic rs193922905 GRCh38 Chromosome 21, 43776479: 43776490
9 CSTB CSTB, 2-BP DEL, 2404TC deletion Pathogenic
10 CSTB NM_000100.3(CSTB): c.212A> C (p.Gln71Pro) single nucleotide variant Pathogenic rs121909346 GRCh37 Chromosome 21, 45194168: 45194168
11 CSTB NM_000100.3(CSTB): c.212A> C (p.Gln71Pro) single nucleotide variant Pathogenic rs121909346 GRCh38 Chromosome 21, 43774287: 43774287
12 CSTB NM_000100.3(CSTB): c.-210_-199(30_125) NT expansion Pathogenic rs386833438 GRCh37 Chromosome 21, 45196349: 45196360
13 CSTB NM_000100.3(CSTB): c.-210_-199(30_125) NT expansion Pathogenic rs386833438 GRCh38 Chromosome 21, 43776468: 43776479
14 CSTB NM_000100.3(CSTB): c.125C> A (p.Ser42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833439 GRCh37 Chromosome 21, 45194582: 45194582
15 CSTB NM_000100.3(CSTB): c.125C> A (p.Ser42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833439 GRCh38 Chromosome 21, 43774701: 43774701
16 CSTB NM_000100.3(CSTB): c.168G> A (p.Lys56=) single nucleotide variant Pathogenic/Likely pathogenic rs386833440 GRCh37 Chromosome 21, 45194539: 45194539
17 CSTB NM_000100.3(CSTB): c.168G> A (p.Lys56=) single nucleotide variant Pathogenic/Likely pathogenic rs386833440 GRCh38 Chromosome 21, 43774658: 43774658
18 CSTB NM_000100.3(CSTB): c.169-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs386833441 GRCh37 Chromosome 21, 45194213: 45194213
19 CSTB NM_000100.3(CSTB): c.169-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs386833441 GRCh38 Chromosome 21, 43774332: 43774332
20 CSTB NM_000100.3(CSTB): c.218_219delTC (p.Leu73Profs) deletion Pathogenic/Likely pathogenic rs796943858 GRCh37 Chromosome 21, 45194161: 45194162
21 CSTB NM_000100.3(CSTB): c.218_219delTC (p.Leu73Profs) deletion Pathogenic/Likely pathogenic rs796943858 GRCh38 Chromosome 21, 43774280: 43774281
22 CSTB NM_000100.3(CSTB): c.66G> A (p.Gln22=) single nucleotide variant Pathogenic/Likely pathogenic rs386833443 GRCh37 Chromosome 21, 45196085: 45196085
23 CSTB NM_000100.3(CSTB): c.66G> A (p.Gln22=) single nucleotide variant Pathogenic/Likely pathogenic rs386833443 GRCh38 Chromosome 21, 43776204: 43776204
24 CSTB NM_000100.3(CSTB): c.15G> T (p.Ala5=) single nucleotide variant Benign/Likely benign rs4533 GRCh37 Chromosome 21, 45196136: 45196136
25 CSTB NM_000100.3(CSTB): c.15G> T (p.Ala5=) single nucleotide variant Benign/Likely benign rs4533 GRCh38 Chromosome 21, 43776255: 43776255
26 CSTB NM_000100.3(CSTB): c.67-3T> C single nucleotide variant Conflicting interpretations of pathogenicity rs6383 GRCh37 Chromosome 21, 45194643: 45194643
27 CSTB NM_000100.3(CSTB): c.67-3T> C single nucleotide variant Conflicting interpretations of pathogenicity rs6383 GRCh38 Chromosome 21, 43774762: 43774762
28 CSTB NM_000100.3(CSTB): c.168+2_168+21delinsAA indel Pathogenic rs864309482 GRCh38 Chromosome 21, 43774637: 43774656
29 CSTB NM_000100.3(CSTB): c.168+2_168+21delinsAA indel Pathogenic rs864309482 GRCh37 Chromosome 21, 45194518: 45194537
30 CSTB NM_000100.3(CSTB): c.168+1_168+18del deletion Pathogenic rs312262707 GRCh38 Chromosome 21, 43774640: 43774657
31 CSTB NM_000100.3(CSTB): c.168+1_168+18del deletion Pathogenic rs312262707 GRCh37 Chromosome 21, 45194521: 45194538
32 CSTB NM_000100.3(CSTB): c.149G> A (p.Gly50Glu) single nucleotide variant Pathogenic rs312262708 GRCh38 Chromosome 21, 43774677: 43774677
33 CSTB NM_000100.3(CSTB): c.149G> A (p.Gly50Glu) single nucleotide variant Pathogenic rs312262708 GRCh37 Chromosome 21, 45194558: 45194558
34 CSTB NM_000100.3(CSTB): c.136C> T (p.Gln46Ter) single nucleotide variant Pathogenic rs545986367 GRCh38 Chromosome 21, 43774690: 43774690
35 CSTB NM_000100.3(CSTB): c.136C> T (p.Gln46Ter) single nucleotide variant Pathogenic rs545986367 GRCh37 Chromosome 21, 45194571: 45194571
36 CSTB NM_000100.3(CSTB): c.121G> A (p.Val41Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143153487 GRCh37 Chromosome 21, 45194586: 45194586
37 CSTB NM_000100.3(CSTB): c.121G> A (p.Val41Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143153487 GRCh38 Chromosome 21, 43774705: 43774705
38 CSTB NM_000100.3(CSTB): c.*435G> A single nucleotide variant Uncertain significance rs149039598 GRCh37 Chromosome 21, 45193648: 45193648
39 CSTB NM_000100.3(CSTB): c.*435G> A single nucleotide variant Uncertain significance rs149039598 GRCh38 Chromosome 21, 43773767: 43773767
40 CSTB NM_000100.3(CSTB): c.*355C> G single nucleotide variant Uncertain significance rs143062585 GRCh37 Chromosome 21, 45193728: 45193728
41 CSTB NM_000100.3(CSTB): c.*355C> G single nucleotide variant Uncertain significance rs143062585 GRCh38 Chromosome 21, 43773847: 43773847
42 CSTB NM_000100.3(CSTB): c.*325A> G single nucleotide variant Likely benign rs28691645 GRCh37 Chromosome 21, 45193758: 45193758
43 CSTB NM_000100.3(CSTB): c.*325A> G single nucleotide variant Likely benign rs28691645 GRCh38 Chromosome 21, 43773877: 43773877
44 CSTB NM_000100.3(CSTB): c.-54C> T single nucleotide variant Likely benign rs59649299 GRCh37 Chromosome 21, 45196204: 45196204
45 CSTB NM_000100.3(CSTB): c.-54C> T single nucleotide variant Likely benign rs59649299 GRCh38 Chromosome 21, 43776323: 43776323
46 CSTB NM_000100.3(CSTB): c.*301G> A single nucleotide variant Uncertain significance rs886057111 GRCh37 Chromosome 21, 45193782: 45193782
47 CSTB NM_000100.3(CSTB): c.*301G> A single nucleotide variant Uncertain significance rs886057111 GRCh38 Chromosome 21, 43773901: 43773901
48 CSTB NM_000100.3(CSTB): c.*227A> G single nucleotide variant Uncertain significance rs886057112 GRCh37 Chromosome 21, 45193856: 45193856
49 CSTB NM_000100.3(CSTB): c.*227A> G single nucleotide variant Uncertain significance rs886057112 GRCh38 Chromosome 21, 43773975: 43773975
50 CSTB NM_000100.3(CSTB): c.*74T> C single nucleotide variant Likely benign rs6385 GRCh37 Chromosome 21, 45194009: 45194009

Expression for Unverricht-Lundborg Syndrome

Search GEO for disease gene expression data for Unverricht-Lundborg Syndrome.

Pathways for Unverricht-Lundborg Syndrome

GO Terms for Unverricht-Lundborg Syndrome

Cellular components related to Unverricht-Lundborg Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of presynaptic membrane GO:0099056 8.96 GLRA1 KCNC1
2 calyx of Held GO:0044305 8.62 GLRA1 KCNC1

Biological processes related to Unverricht-Lundborg Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein ubiquitination GO:0031398 9.26 NHLRC1 PRICKLE1
2 negative regulation of proteolysis GO:0045861 9.16 CLN3 CSTB
3 glycogen biosynthetic process GO:0005978 8.96 EPM2A NHLRC1
4 action potential GO:0001508 8.8 CLN3 GLRA1 SCARB2

Molecular functions related to Unverricht-Lundborg Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated potassium channel activity GO:0005249 8.96 KCNC1 KCNQ3
2 delayed rectifier potassium channel activity GO:0005251 8.62 KCNC1 KCNQ3

Sources for Unverricht-Lundborg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
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38 LifeMap
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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