MCID: UNV001
MIFTS: 48

Unverricht-Lundborg Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Unverricht-Lundborg Syndrome

MalaCards integrated aliases for Unverricht-Lundborg Syndrome:

Name: Unverricht-Lundborg Syndrome 12 26 30 6 45 15 74
Unverricht-Lundborg Disease 12 77 25 54 26 60 38
Myoclonic Epilepsy of Unverricht and Lundborg 54 26
Epm1 54 26
Uld 26 60
Myoclonus Progressive Epilepsy of Unverricht and Lundborg 54
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy 54
Epilepsy, Progressive Myoclonic Type 1 54
Progressive Myoclonic Epilepsy Type 1 60
Progressive Myoclonus Epilepsy Type 1 60
Epilepsy, Progressive Myoclonus 1 54
Myoclonic Epilepsies, Progressive 74
Mediterranean Myoclonic Epilepsy 26
Progressive Myoclonus Epilepsy 1 26
Progressive Myoclonic Epilepsy 26
Unverricht - Lundborg Disease 12
Lundborg-Unverricht Syndrome 26
Baltic Myoclonic Epilepsy 26
Baltic Myoclonus Epilepsy 26
Unverricht's Disease 12
Baltic Myoclonus 26
Pme Type 1 60
Pme 26

Characteristics:

Orphanet epidemiological data:

60
unverricht-lundborg disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Childhood;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3535
KEGG 38 H01995
MeSH 45 D020194
SNOMED-CT 69 89480000
MESH via Orphanet 46 D020194
ICD10 via Orphanet 35 G40.3
UMLS via Orphanet 75 C0751785
Orphanet 60 ORPHA308

Summaries for Unverricht-Lundborg Syndrome

NIH Rare Diseases : 54 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 limb ataxia and eeg with polyspike wave complexes

Genetics Home Reference : 26 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 : 77 Unverricht–Lundborg disease (abbreviated ULD or EPM1) is the most common form of an uncommon group of... more...

GeneReviews:

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 80)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of lafora 33.0 CLN3 CSTB EPM2A NHLRC1
2 myoclonic epilepsy of unverricht and lundborg 32.3 CSTB EPM2A SCARB2
3 progressive myoclonus epilepsy 31.4 CSTB EPM2A KCNC1 NHLRC1 PRICKLE1 SCARB2
4 early myoclonic encephalopathy 30.2 CSTB EPM2A
5 myoclonus 29.9 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
6 epilepsy, idiopathic generalized 10 29.5 CHRNA4 CSTB EFHC1 KCNQ3
7 myoclonus epilepsy 29.4 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1 SCARB2
8 epilepsy 27.9 CHRNA4 CSTB EFHC1 EPM2A KCNC1 KCNQ3
9 spinal muscular atrophy with progressive myoclonic epilepsy 12.8
10 progressive myoclonic epilepsy with neuroserpin inclusion bodies 12.3
11 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 12.2
12 epilepsy, progressive myoclonic, 4, with or without renal failure 12.1
13 epilepsy, progressive myoclonic, 8 12.1
14 epilepsy, progressive myoclonic 7 12.0
15 epilepsy, progressive myoclonic, 9 11.9
16 progressive myoclonus epilepsy, lafora type 11.8
17 epilepsy, progressive myoclonic, 6 11.8
18 spinal muscular atrophy 11.7
19 epileptic encephalopathy, early infantile, 16 11.6
20 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.4
21 prickle1-related progressive myoclonus epilepsy with ataxia 11.4
22 dystonia 11, myoclonic 11.3
23 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.3
24 epilepsy progressive myoclonic type 3 11.3
25 gosr2-related progressive myoclonus ataxia 11.3
26 gaucher disease, type iii 11.1
27 ceroid lipofuscinosis, neuronal, 6 11.1
28 encephalopathy, familial, with neuroserpin inclusion bodies 11.1
29 spastic ataxia 5, autosomal recessive 11.1
30 epilepsy, progressive myoclonic, 10 11.1
31 muscular atrophy 10.5
32 blood group, gerbich system 10.3
33 epilepsy with generalized tonic-clonic seizures 10.2 CSTB EFHC1
34 hyperostosis frontalis interna 10.2
35 scoliosis 10.2
36 hypophosphatasia 10.2
37 hyperostosis 10.2
38 gaucher's disease 10.2
39 adolescence-adult electroclinical syndrome 10.2 CSTB EFHC1
40 dentatorubral-pallidoluysian atrophy 10.1
41 retinitis pigmentosa 10.1
42 leber congenital amaurosis 4 10.1
43 status epilepticus 10.1
44 retinitis 10.1
45 jankovic rivera syndrome 10.1
46 supranuclear ocular palsy 10.1
47 stenotrophomonas maltophilia infection 10.0
48 crohn's disease 10.0
49 mitochondrial encephalomyopathy 10.0
50 friedreich ataxia 1 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:

60 33 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 limb ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002070
2 eeg with polyspike wave complexes 60 33 hallmark (90%) Very frequent (99-80%) HP:0002392
3 morning myoclonic jerks 60 33 hallmark (90%) Very frequent (99-80%) HP:0007000
4 dysarthria 60 33 frequent (33%) Frequent (79-30%) HP:0001260
5 intention tremor 60 33 frequent (33%) Frequent (79-30%) HP:0002080
6 intellectual disability 60 33 occasional (7.5%) Occasional (29-5%) HP:0001249
7 dementia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000726
8 cutaneous photosensitivity 60 33 occasional (7.5%) Occasional (29-5%) HP:0000992
9 ataxia 60 Frequent (79-30%)
10 myoclonus 60 Very frequent (99-80%)

UMLS symptoms related to Unverricht-Lundborg Syndrome:


ataxia, myoclonus

MGI Mouse Phenotypes related to Unverricht-Lundborg Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 CHRNA4 CLN3 CSTB EFHC1 EPM2A KCNC1
2 cellular MP:0005384 9.86 CLN3 CSTB EFHC1 EPM2A NHLRC1 PRDM8
3 nervous system MP:0003631 9.73 CHRNA4 CLN3 CSTB EFHC1 EPM2A KCNC1
4 muscle MP:0005369 9.63 CSTB EFHC1 EPM2A KCNC1 NHLRC1 PRICKLE1
5 no phenotypic analysis MP:0003012 9.02 CHRNA4 CLN3 CSTB NHLRC1 PRICKLE1

Drugs & Therapeutics for Unverricht-Lundborg Syndrome

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

(show all 32)
# 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 Immunologic Factors Phase 3
6 Immunoglobulins Phase 3
7 Immunoglobulins, Intravenous Phase 3
8 Rho(D) Immune Globulin Phase 3
9 gamma-Globulins Phase 3
10 Antibodies Phase 3
11
Dopamine Approved Phase 2 62-31-7, 51-61-6 681
12
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
13 Neurotransmitter Agents Phase 2
14 Dopamine Agents Phase 2
15 Antiparkinson Agents Phase 2
16 Dopamine agonists Phase 2
17
Acetylcysteine Approved, Investigational Not Applicable 616-91-1 12035
18
Serine Approved, Nutraceutical 56-45-1 5951
19 Expectorants Not Applicable
20 Antioxidants Not Applicable
21 Protective Agents Not Applicable
22 Free Radical Scavengers Not Applicable
23 Anti-Infective Agents Not Applicable
24 Respiratory System Agents Not Applicable
25 Antidotes Not Applicable
26 Antiviral Agents Not Applicable
27 N-monoacetylcystine Not Applicable
28
protease inhibitors
29 HIV Protease Inhibitors
30 Serpins
31 Neuroserpin
32 Serine Proteinase Inhibitors

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 30 CSTB

Anatomical Context for Unverricht-Lundborg Syndrome

MalaCards organs/tissues related to Unverricht-Lundborg Syndrome:

42
Testes, Cortex

Publications for Unverricht-Lundborg Syndrome

Articles related to Unverricht-Lundborg Syndrome:

(show top 50) (show all 88)
# Title Authors Year
1
Unverricht-Lundborg disease: Clinical course and seizure management based on the experience of polish centers. ( 30999254 )
2019
2
ANNALS EXPRESS: Late Diagnosis of Hypophosphatasia in a case with Unverricht-Lundborg disease. ( 31088113 )
2019
3
Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy. ( 30208654 )
2018
4
First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea. ( 29978618 )
2018
5
A clinical and neurophysiological motor signature of Unverricht-Lundborg disease. ( 28688606 )
2018
6
Abnormal motor cortical adaptation to external stimulus in Unverricht-Lundborg disease (progressive myoclonus type 1, EPM1). ( 29742025 )
2018
7
A Native Haitian Woman with Unverricht-Lundborg Disease. ( 29422850 )
2017
8
Perampanel in 12 patients with Unverricht-Lundborg disease. ( 28166365 )
2017
9
A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients. ( 27888502 )
2017
10
Variable course of Unverricht-Lundborg disease: Early prognostic factors. ( 28931642 )
2017
11
Unverricht-Lundborg disease. ( 27582036 )
2016
12
Long-term evolution of EEG in Unverricht-Lundborg disease. ( 27157382 )
2016
13
Brivaracetam in Unverricht-Lundborg disease (EPM1): Results from two randomized, double-blind, placebo-controlled studies. ( 26666500 )
2016
14
Characterization of a rare Unverricht-Lundborg disease mutation. ( 26937413 )
2015
15
Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study. ( 25770194 )
2015
16
Reduced cortical activation in inferior frontal junction in Unverricht-Lundborg disease (EPM1) - A motor fMRI study. ( 25769376 )
2015
17
A shared haplotype indicates a founder event in Unverricht-Lundborg disease patients from Serbia. ( 23883076 )
2014
18
Seizure control in Unverricht-Lundborg disease: a single-centre study. ( 24777117 )
2014
19
Long-term follow-up of cortical hyperexcitability in Japanese Unverricht-Lundborg disease. ( 25023721 )
2014
20
EEG-EMG information flow in movement-activated myoclonus in patients with Unverricht-Lundborg disease. ( 24508192 )
2014
21
Giant SEPs and SEP-recovery function in Unverricht-Lundborg disease. ( 23276489 )
2013
22
Alterations of motor cortical excitability and anatomy in Unverricht-Lundborg disease. ( 23925991 )
2013
23
Loss of cortical GABA terminals in Unverricht-Lundborg disease. ( 22538221 )
2012
24
Sensorimotor, visual, and auditory cortical atrophy in Unverricht-Lundborg disease mapped with cortical thickness analysis. ( 22268086 )
2012
25
Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene. ( 22154554 )
2012
26
Thickened skull, scoliosis and other skeletal findings in Unverricht-Lundborg disease link cystatin B function to bone metabolism. ( 23010349 )
2012
27
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations. ( 23205931 )
2012
28
Difficult differential diagnosis of Unverricht-Lundborg disease with spontaneous kinesogenic myoclonus and movement disorder. ( 22539245 )
2012
29
Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene. ( 21757863 )
2011
30
Motor cortical plasticity is impaired in Unverricht-Lundborg disease. ( 21661050 )
2011
31
Decreased cortical excitability in Unverricht-Lundborg disease in the long-term follow-up: a consecutive SEP study. ( 21353634 )
2011
32
Abnormal ERD/ERS but unaffected BOLD response in patients with Unverricht-Lundborg disease during index extension: a simultaneous EEG-fMRI study. ( 21107673 )
2011
33
Primary motor cortex alterations in a compound heterozygous form of Unverricht-Lundborg disease (EPM1). ( 21075014 )
2011
34
A pilot open-label trial of zonisamide in Unverricht-Lundborg disease. ( 20939070 )
2011
35
New neuropathological findings in Unverricht-Lundborg disease: neuronal intranuclear and cytoplasmic inclusions. ( 20721566 )
2011
36
Unverricht-Lundborg disease (EPM1). ( 20331711 )
2010
37
Simultaneous EEG-fMRI in patients with Unverricht-Lundborg disease: event-related desynchronization/synchronization and hemodynamic response analysis. ( 20111730 )
2010
38
T2-weighted high-intensity signals in the basal ganglia as an interesting image finding in Unverricht-Lundborg disease. ( 19896804 )
2010
39
Motor cortex and thalamic atrophy in Unverricht-Lundborg disease: voxel-based morphometric study. ( 19704079 )
2009
40
Death in Unverricht-Lundborg disease. ( 19499178 )
2009
41
The neuropsychological pattern of Unverricht-Lundborg disease. ( 19261441 )
2009
42
Neuropsychological findings in patients with Unverricht-Lundborg disease. ( 19185615 )
2009
43
Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity. ( 19170735 )
2009
44
Unverricht-Lundborg disease-a misnomer? ( 18512745 )
2009
45
Antiepileptic drug intervention decouples electroencephalogram (EEG) signals: a case study in Unverricht-Lundborg Disease. ( 19163112 )
2008
46
Clinical picture of EPM1-Unverricht-Lundborg disease. ( 18325013 )
2008
47
Molecular background of EPM1-Unverricht-Lundborg disease. ( 18028412 )
2008
48
The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases. ( 17994572 )
2008
49
Substantial thalamostriatal dopaminergic defect in Unverricht-Lundborg disease. ( 17484752 )
2007
50
A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression. ( 17188503 )
2007

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.10G> T (p.Gly4Trp) single nucleotide variant Likely pathogenic rs74315443 GRCh38 Chromosome 21, 43776260: 43776260
2 CSTB NM_000100.3(CSTB): c.10G> T (p.Gly4Trp) single nucleotide variant Likely pathogenic rs74315443 GRCh37 Chromosome 21, 45196141: 45196141
3 CSTB NM_000100.3(CSTB): c.-43C> G single nucleotide variant Uncertain significance rs886057113 GRCh38 Chromosome 21, 43776312: 43776312
4 CSTB NM_000100.3(CSTB): c.-43C> G single nucleotide variant Uncertain significance rs886057113 GRCh37 Chromosome 21, 45196193: 45196193
5 CSTB NM_000100.3(CSTB): c.169-14C> T single nucleotide variant Uncertain significance rs757593576 GRCh38 Chromosome 21, 43774344: 43774344
6 CSTB NM_000100.3(CSTB): c.169-14C> T single nucleotide variant Uncertain significance rs757593576 GRCh37 Chromosome 21, 45194225: 45194225
7 CSTB NM_000100.3(CSTB): c.*69A> G single nucleotide variant Uncertain significance rs142767585 GRCh38 Chromosome 21, 43774133: 43774133
8 CSTB NM_000100.3(CSTB): c.*69A> G single nucleotide variant Uncertain significance rs142767585 GRCh37 Chromosome 21, 45194014: 45194014
9 CSTB NM_000100.3(CSTB): c.-55G> A single nucleotide variant Uncertain significance rs533879406 GRCh38 Chromosome 21, 43776324: 43776324
10 CSTB NM_000100.3(CSTB): c.-55G> A single nucleotide variant Uncertain significance rs533879406 GRCh37 Chromosome 21, 45196205: 45196205
11 CSTB NM_000100.3(CSTB): c.-42C> T single nucleotide variant Conflicting interpretations of pathogenicity rs776181852 GRCh38 Chromosome 21, 43776311: 43776311
12 CSTB NM_000100.3(CSTB): c.-42C> T single nucleotide variant Conflicting interpretations of pathogenicity rs776181852 GRCh37 Chromosome 21, 45196192: 45196192
13 CSTB NM_000100.3(CSTB): c.*74T> C single nucleotide variant Likely benign rs6385 GRCh38 Chromosome 21, 43774128: 43774128
14 CSTB NM_000100.3(CSTB): c.*74T> C single nucleotide variant Likely benign rs6385 GRCh37 Chromosome 21, 45194009: 45194009
15 CSTB NM_000100.3(CSTB): c.*227A> G single nucleotide variant Uncertain significance rs886057112 GRCh38 Chromosome 21, 43773975: 43773975
16 CSTB NM_000100.3(CSTB): c.*227A> G single nucleotide variant Uncertain significance rs886057112 GRCh37 Chromosome 21, 45193856: 45193856
17 CSTB NM_000100.3(CSTB): c.*301G> A single nucleotide variant Uncertain significance rs886057111 GRCh38 Chromosome 21, 43773901: 43773901
18 CSTB NM_000100.3(CSTB): c.*301G> A single nucleotide variant Uncertain significance rs886057111 GRCh37 Chromosome 21, 45193782: 45193782
19 CSTB NM_000100.3(CSTB): c.136C> T (p.Gln46Ter) single nucleotide variant Pathogenic rs545986367 GRCh37 Chromosome 21, 45194571: 45194571
20 CSTB NM_000100.3(CSTB): c.136C> T (p.Gln46Ter) single nucleotide variant Pathogenic rs545986367 GRCh38 Chromosome 21, 43774690: 43774690
21 CSTB NM_000100.3(CSTB): c.149G> A (p.Gly50Glu) single nucleotide variant Pathogenic rs312262708 GRCh37 Chromosome 21, 45194558: 45194558
22 CSTB NM_000100.3(CSTB): c.149G> A (p.Gly50Glu) single nucleotide variant Pathogenic rs312262708 GRCh38 Chromosome 21, 43774677: 43774677
23 CSTB NM_000100.3(CSTB): c.168+1_168+18del deletion Pathogenic rs312262707 GRCh37 Chromosome 21, 45194521: 45194538
24 CSTB NM_000100.3(CSTB): c.168+1_168+18del deletion Pathogenic rs312262707 GRCh38 Chromosome 21, 43774640: 43774657
25 CSTB NM_000100.3(CSTB): c.168+2_168+21delinsAA indel Pathogenic rs864309482 GRCh37 Chromosome 21, 45194518: 45194537
26 CSTB NM_000100.3(CSTB): c.168+2_168+21delinsAA indel Pathogenic rs864309482 GRCh38 Chromosome 21, 43774637: 43774656
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.67-3T> C single nucleotide variant Conflicting interpretations of pathogenicity rs6383 GRCh37 Chromosome 21, 45194643: 45194643
29 CSTB NM_000100.3(CSTB): c.15G> T (p.Ala5=) single nucleotide variant Benign/Likely benign rs4533 GRCh38 Chromosome 21, 43776255: 43776255
30 CSTB NM_000100.3(CSTB): c.15G> T (p.Ala5=) single nucleotide variant Benign/Likely benign rs4533 GRCh37 Chromosome 21, 45196136: 45196136
31 CSTB NM_000100.3(CSTB): c.66G> A (p.Gln22=) single nucleotide variant Pathogenic/Likely pathogenic rs386833443 GRCh38 Chromosome 21, 43776204: 43776204
32 CSTB NM_000100.3(CSTB): c.66G> A (p.Gln22=) single nucleotide variant Pathogenic/Likely pathogenic rs386833443 GRCh37 Chromosome 21, 45196085: 45196085
33 CSTB NM_000100.3(CSTB): c.218_219delTC (p.Leu73Profs) deletion Pathogenic/Likely pathogenic rs796943858 GRCh38 Chromosome 21, 43774280: 43774281
34 CSTB NM_000100.3(CSTB): c.218_219delTC (p.Leu73Profs) deletion Pathogenic/Likely pathogenic rs796943858 GRCh37 Chromosome 21, 45194161: 45194162
35 CSTB NM_000100.3(CSTB): c.169-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs386833441 GRCh38 Chromosome 21, 43774332: 43774332
36 CSTB NM_000100.3(CSTB): c.169-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs386833441 GRCh37 Chromosome 21, 45194213: 45194213
37 CSTB NM_000100.3(CSTB): c.168G> A (p.Lys56=) single nucleotide variant Pathogenic/Likely pathogenic rs386833440 GRCh38 Chromosome 21, 43774658: 43774658
38 CSTB NM_000100.3(CSTB): c.168G> A (p.Lys56=) single nucleotide variant Pathogenic/Likely pathogenic rs386833440 GRCh37 Chromosome 21, 45194539: 45194539
39 CSTB NM_000100.3(CSTB): c.125C> A (p.Ser42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833439 GRCh38 Chromosome 21, 43774701: 43774701
40 CSTB NM_000100.3(CSTB): c.125C> A (p.Ser42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833439 GRCh37 Chromosome 21, 45194582: 45194582
41 CSTB NM_000100.3(CSTB): c.-210_-199(30_125) NT expansion Pathogenic GRCh37 Chromosome 21, 45196349: 45196360
42 CSTB NM_000100.3(CSTB): c.-210_-199(30_125) NT expansion Pathogenic GRCh38 Chromosome 21, 43776468: 43776479
43 CSTB NM_000100.3(CSTB): c.212A> C (p.Gln71Pro) single nucleotide variant Pathogenic rs121909346 GRCh38 Chromosome 21, 43774287: 43774287
44 CSTB NM_000100.3(CSTB): c.212A> C (p.Gln71Pro) single nucleotide variant Pathogenic rs121909346 GRCh37 Chromosome 21, 45194168: 45194168
45 CSTB CSTB, 2-BP DEL, 2404TC deletion Pathogenic
46 CSTB NM_000100.3(CSTB): c.-210CCCCGCCCCGCG(2_3) NT expansion Pathogenic GRCh38 Chromosome 21, 43776479: 43776490
47 CSTB NM_000100.3(CSTB): c.-210CCCCGCCCCGCG(2_3) NT expansion Pathogenic GRCh37 Chromosome 21, 45196360: 45196371
48 CSTB NM_000100.3(CSTB): c.10G> C (p.Gly4Arg) single nucleotide variant Pathogenic rs74315443 GRCh38 Chromosome 21, 43776260: 43776260
49 CSTB NM_000100.3(CSTB): c.10G> C (p.Gly4Arg) single nucleotide variant Pathogenic rs74315443 GRCh37 Chromosome 21, 45196141: 45196141
50 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh38 Chromosome 21, 43774297: 43774297

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 CHRNA4 KCNC1
2 neuronal cell body GO:0043025 8.92 KCNC1 CHRNA4 EFHC1 TMPRSS3

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

# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.43 CLN3 SCARB2 TMPRSS3
2 positive regulation of protein ubiquitination GO:0031398 9.32 NHLRC1 PRICKLE1
3 negative regulation of proteolysis GO:0045861 9.16 CLN3 CSTB
4 glycogen biosynthetic process GO:0005978 8.96 EPM2A NHLRC1
5 action potential GO:0001508 8.62 CHRNA4 CLN3

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 9.16 KCNC1 KCNQ3
2 scavenger receptor activity GO:0005044 8.96 SCARB2 TMPRSS3
3 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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