MCID: UNV001
MIFTS: 40

Unverricht-Lundborg Syndrome

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Unverricht-Lundborg Syndrome

MalaCards integrated aliases for Unverricht-Lundborg Syndrome:

Name: Unverricht-Lundborg Syndrome 12 24 28 41 14 69
Unverricht-Lundborg Disease 12 23 49 24 55 36
Myoclonic Epilepsy of Unverricht and Lundborg 49 24
Epm1 49 24
Uld 24 55
Myoclonus Progressive Epilepsy of Unverricht and Lundborg 49
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy 49
Epilepsy, Progressive Myoclonic Type 1 49
Progressive Myoclonic Epilepsy Type 1 55
Progressive Myoclonus Epilepsy Type 1 55
Epilepsy, Progressive Myoclonus 1 49
Myoclonic Epilepsies, Progressive 69
Mediterranean Myoclonic Epilepsy 24
Progressive Myoclonus Epilepsy 1 24
Progressive Myoclonic Epilepsy 24
Unverricht - Lundborg Disease 12
Lundborg-Unverricht Syndrome 24
Baltic Myoclonic Epilepsy 24
Baltic Myoclonus Epilepsy 24
Unverricht's Disease 12
Baltic Myoclonus 24
Pme Type 1 55
Pme 24

Characteristics:

Orphanet epidemiological data:

55
unverricht-lundborg disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Childhood;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3535
MeSH 41 D020194
Orphanet 55 ORPHA308
MESH via Orphanet 42 D020194
UMLS via Orphanet 70 C0751785
ICD10 via Orphanet 33 G40.3
KEGG 36 H01995
UMLS 69 C0751785

Summaries for Unverricht-Lundborg Syndrome

NIH Rare Diseases : 49 Unverricht-Lundborg disease is an inherited form of progressive myoclonus epilepsy that is characterized by episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Over time, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities. Other features include seizures involving loss of consciousness, muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the myoclonic episodes, these may increase in frequency over several years but may be controlled with treatment. After several years of progression, the frequency of seizures may stabilize or decrease. Unverricht-Lundborg disease is caused by mutation in the CSTB gene. It is inherited in an autosomal recessive pattern. Last updated: 11/3/2011

MalaCards based summary : Unverricht-Lundborg Syndrome, also known as unverricht-lundborg disease, is related to myoclonic epilepsy of unverricht and lundborg and progressive myoclonus epilepsy, and has symptoms including limb ataxia, eeg with polyspike wave complexes and morning myoclonic jerks. An important gene associated with Unverricht-Lundborg Syndrome is CSTB (Cystatin B). The drugs Soy Bean and Anticonvulsants have been mentioned in the context of this disorder. Related phenotypes are behavior/neurological and cellular

Genetics Home Reference : 24 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.

GeneReviews: NBK1142

Related Diseases for Unverricht-Lundborg Syndrome

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:

55 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 limb ataxia 55 31 hallmark (90%) Very frequent (99-80%) HP:0002070
2 eeg with polyspike wave complexes 55 31 hallmark (90%) Very frequent (99-80%) HP:0002392
3 morning myoclonic jerks 55 31 hallmark (90%) Very frequent (99-80%) HP:0007000
4 dysarthria 55 31 frequent (33%) Frequent (79-30%) HP:0001260
5 intention tremor 55 31 frequent (33%) Frequent (79-30%) HP:0002080
6 dementia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000726
7 cutaneous photosensitivity 55 31 occasional (7.5%) Occasional (29-5%) HP:0000992
8 intellectual disability 55 31 occasional (7.5%) Occasional (29-5%) HP:0001249
9 myoclonus 55 Very frequent (99-80%)
10 ataxia 55 Frequent (79-30%)

UMLS symptoms related to Unverricht-Lundborg Syndrome:


myoclonus, ataxia

MGI Mouse Phenotypes related to Unverricht-Lundborg Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 CLN3 CSTB EFHC1 EPM2A GLRA1 KCNC1
2 cellular MP:0005384 9.81 CLN3 CSTB EFHC1 EPM2A GLRA1 NHLRC1
3 muscle MP:0005369 9.5 NHLRC1 PRICKLE1 CSTB EFHC1 EPM2A GLRA1
4 nervous system MP:0003631 9.4 CLN3 CSTB EFHC1 EPM2A GLRA1 KCNC1

Drugs & Therapeutics for Unverricht-Lundborg Syndrome

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Soy Bean Nutraceutical Phase 4
2 Anticonvulsants Phase 3
3 Pharmaceutical Solutions Phase 3
4 Antibodies Phase 3
5 gamma-Globulins Phase 3
6 Immunoglobulins Phase 3
7 Immunoglobulins, Intravenous Phase 3
8 Rho(D) Immune Globulin Phase 3
9
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
10
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
11 Antiparkinson Agents Phase 2
12 Dopamine Agents Phase 2
13 Dopamine agonists Phase 2
14 Neurotransmitter Agents Phase 2
15
Acetylcysteine Approved, Investigational 616-91-1 12035
16 Antidotes
17 Anti-Infective Agents
18 Antioxidants
19 Antiviral Agents
20 Expectorants
21 N-monoacetylcystine
22 Protective Agents
23 Respiratory System Agents
24 HIV Protease Inhibitors
25 Neuroserpin
26
protease inhibitors
27 Serine Proteinase Inhibitors
28 serine Nutraceutical

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 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 28 CSTB

Anatomical Context for Unverricht-Lundborg Syndrome

Publications for Unverricht-Lundborg Syndrome

Articles related to Unverricht-Lundborg Syndrome:

# Title Authors Year
1
Unverricht-Lundborg syndrome. ( 4645684 )
1972

Variations for Unverricht-Lundborg Syndrome

ClinVar genetic disease variations for Unverricht-Lundborg Syndrome:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 CSTB NM_000100.3(CSTB): c.67-1G> C single nucleotide variant Pathogenic rs147484110 GRCh37 Chromosome 21, 45194641: 45194641
2 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh37 Chromosome 21, 45194178: 45194178
3 CSTB NM_000100.3(CSTB): c.10G> C (p.Gly4Arg) single nucleotide variant Pathogenic rs74315443 GRCh37 Chromosome 21, 45196141: 45196141
4 CSTB NM_000100.3(CSTB): c.-210CCCCGCCCCGCG(2_3) NT expansion Pathogenic rs193922905 GRCh37 Chromosome 21, 45196360: 45196371
5 CSTB CSTB, 2-BP DEL, 2404TC deletion Pathogenic
6 CSTB NM_000100.3(CSTB): c.212A> C (p.Gln71Pro) single nucleotide variant Pathogenic rs121909346 GRCh37 Chromosome 21, 45194168: 45194168
7 CSTB NM_000100.3(CSTB): c.-210_-199(30_125) NT expansion Pathogenic rs386833438 GRCh37 Chromosome 21, 45196349: 45196360
8 CSTB NM_000100.3(CSTB): c.125C> A (p.Ser42Ter) single nucleotide variant Pathogenic/Likely pathogenic rs386833439 GRCh37 Chromosome 21, 45194582: 45194582
9 CSTB NM_000100.3(CSTB): c.168G> A (p.Lys56=) single nucleotide variant Pathogenic/Likely pathogenic rs386833440 GRCh37 Chromosome 21, 45194539: 45194539
10 CSTB NM_000100.3(CSTB): c.169-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs386833441 GRCh37 Chromosome 21, 45194213: 45194213
11 CSTB NM_000100.3(CSTB): c.218_219delTC (p.Leu73Profs) deletion Pathogenic/Likely pathogenic rs796943858 GRCh37 Chromosome 21, 45194161: 45194162
12 CSTB NM_000100.3(CSTB): c.66G> A (p.Gln22=) single nucleotide variant Pathogenic/Likely pathogenic rs386833443 GRCh37 Chromosome 21, 45196085: 45196085
13 CSTB NM_000100.3(CSTB): c.168+2_168+21delinsAA indel Pathogenic rs864309482 GRCh38 Chromosome 21, 43774637: 43774656
14 CSTB NM_000100.3(CSTB): c.168+1_168+18del deletion Pathogenic rs312262707 GRCh38 Chromosome 21, 43774640: 43774657
15 CSTB NM_000100.3(CSTB): c.149G> A (p.Gly50Glu) single nucleotide variant Pathogenic rs312262708 GRCh38 Chromosome 21, 43774677: 43774677
16 CSTB NM_000100.3(CSTB): c.136C> T (p.Gln46Ter) single nucleotide variant Pathogenic rs545986367 GRCh38 Chromosome 21, 43774690: 43774690
17 EPM2A NC_000006.12: g.(?_145686102)_(145686316_?)del deletion Pathogenic GRCh38 Chromosome 6, 145686102: 145686316

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 neuronal cell body GO:0043025 8.92 EFHC1 GLRA1 KCNC1 TMPRSS3

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

# Name GO ID Score Top Affiliating Genes
1 glycogen biosynthetic process GO:0005978 9.16 EPM2A NHLRC1
2 negative regulation of proteolysis GO:0045861 8.96 CLN3 CSTB
3 action potential GO:0001508 8.62 CLN3 GLRA1

Sources for Unverricht-Lundborg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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