MCID: UNV001
MIFTS: 41

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 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
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
Orphanet 59 ORPHA308
MESH via Orphanet 45 D020194
UMLS via Orphanet 74 C0751785
ICD10 via Orphanet 34 G40.3
KEGG 37 H01995
UMLS 73 C0751785

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 unverricht and lundborg and myoclonus, and has symptoms including myoclonus and ataxia. 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. Affiliated tissues include testes, and related phenotypes are limb ataxia and eeg with polyspike wave complexes

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:

Related Diseases for Unverricht-Lundborg Syndrome

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

(show all 22)
# Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy of unverricht and lundborg 32.6 CSTB EPM2A
2 myoclonus 29.7 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
3 progressive myoclonus epilepsy 29.4 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1 SCARB2
4 epilepsy 27.0 CSTB EFHC1 EPM2A KCNQ3 NHLRC1 PRICKLE1
5 spinal muscular atrophy with progressive myoclonic epilepsy 12.6
6 dystonia 11, myoclonic 11.2
7 myoclonus and ataxia 10.2
8 prickle1-related progressive myoclonus epilepsy with ataxia 10.1 PRICKLE1 TBC1D24
9 early myoclonic encephalopathy 10.1 CSTB EPM2A MT-TK
10 epilepsy, progressive myoclonic, 1b 10.0 PRICKLE1 TBC1D24
11 epilepsy with generalized tonic-clonic seizures 9.8 CSTB EFHC1 TBC1D24
12 adolescence-adult electroclinical syndrome 9.8 CSTB EFHC1 TBC1D24
13 neonatal period electroclinical syndrome 9.5 KCNQ3 MT-TK TBC1D24
14 myoclonus epilepsy 9.5 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
15 childhood electroclinical syndrome 9.5 EFHC1 TBC1D24
16 benign familial neonatal epilepsy 9.5 KCNQ3 TBC1D24
17 visual epilepsy 9.4 CLN3 EPM2A NHLRC1
18 generalized epilepsy with febrile seizures plus 9.3 EFHC1 KCNQ3 TBC1D24
19 epilepsy, idiopathic generalized 10 9.2 CSTB EFHC1 KCNQ3 TBC1D24
20 benign epilepsy with centrotemporal spikes 9.2 CSTB EPM2A KCNQ3 TBC1D24
21 epilepsy, idiopathic generalized 9.2 EFHC1 KCNQ3 TBC1D24
22 myoclonic epilepsy of lafora 9.1 CLN3 CSTB EPM2A NHLRC1

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

UMLS symptoms related to Unverricht-Lundborg Syndrome:


myoclonus, ataxia

MGI Mouse Phenotypes related to Unverricht-Lundborg Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 PRDM8 PRICKLE1 CLN3 SCARB2 CSTB TMPRSS3
2 cellular MP:0005384 9.76 NHLRC1 PRDM8 PRICKLE1 CLN3 CSTB TMPRSS3
3 muscle MP:0005369 9.43 PRICKLE1 CSTB EFHC1 EPM2A KCNC1 NHLRC1
4 nervous system MP:0003631 9.36 PRDM8 PRICKLE1 CLN3 SCARB2 CSTB TMPRSS3

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,Not Applicable
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 Not Applicable 616-91-1 12035
16
Serine Approved, Nutraceutical 56-45-1 5951
17 Antidotes Not Applicable
18 Anti-Infective Agents Not Applicable
19 Antioxidants Not Applicable
20 Antiviral Agents Not Applicable
21 Expectorants Not Applicable
22 N-monoacetylcystine Not Applicable
23 Protective Agents Not Applicable
24 Respiratory System Agents Not Applicable
25 HIV Protease Inhibitors
26 Neuroserpin
27
protease inhibitors
28 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 29 CSTB

Anatomical Context for Unverricht-Lundborg Syndrome

MalaCards organs/tissues related to Unverricht-Lundborg Syndrome:

41
Testes

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 top 50) (show all 59)
# 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.168+2_168+21delinsAA indel Pathogenic rs864309482 GRCh38 Chromosome 21, 43774637: 43774656
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+1_168+18del deletion Pathogenic rs312262707 GRCh38 Chromosome 21, 43774640: 43774657
27 CSTB NM_000100.3(CSTB): c.168+1_168+18del deletion Pathogenic rs312262707 GRCh37 Chromosome 21, 45194521: 45194538
28 CSTB NM_000100.3(CSTB): c.149G> A (p.Gly50Glu) single nucleotide variant Pathogenic rs312262708 GRCh38 Chromosome 21, 43774677: 43774677
29 CSTB NM_000100.3(CSTB): c.149G> A (p.Gly50Glu) single nucleotide variant Pathogenic rs312262708 GRCh37 Chromosome 21, 45194558: 45194558
30 CSTB NM_000100.3(CSTB): c.136C> T (p.Gln46Ter) single nucleotide variant Pathogenic rs545986367 GRCh38 Chromosome 21, 43774690: 43774690
31 CSTB NM_000100.3(CSTB): c.136C> T (p.Gln46Ter) single nucleotide variant Pathogenic rs545986367 GRCh37 Chromosome 21, 45194571: 45194571
32 CSTB NM_000100.3(CSTB): c.121G> A (p.Val41Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143153487 GRCh37 Chromosome 21, 45194586: 45194586
33 CSTB NM_000100.3(CSTB): c.121G> A (p.Val41Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143153487 GRCh38 Chromosome 21, 43774705: 43774705
34 CSTB NM_000100.3(CSTB): c.*435G> A single nucleotide variant Uncertain significance rs149039598 GRCh37 Chromosome 21, 45193648: 45193648
35 CSTB NM_000100.3(CSTB): c.*435G> A single nucleotide variant Uncertain significance rs149039598 GRCh38 Chromosome 21, 43773767: 43773767
36 CSTB NM_000100.3(CSTB): c.*355C> G single nucleotide variant Uncertain significance rs143062585 GRCh37 Chromosome 21, 45193728: 45193728
37 CSTB NM_000100.3(CSTB): c.*355C> G single nucleotide variant Uncertain significance rs143062585 GRCh38 Chromosome 21, 43773847: 43773847
38 CSTB NM_000100.3(CSTB): c.*325A> G single nucleotide variant Likely benign rs28691645 GRCh37 Chromosome 21, 45193758: 45193758
39 CSTB NM_000100.3(CSTB): c.*325A> G single nucleotide variant Likely benign rs28691645 GRCh38 Chromosome 21, 43773877: 43773877
40 CSTB NM_000100.3(CSTB): c.-54C> T single nucleotide variant Likely benign rs59649299 GRCh37 Chromosome 21, 45196204: 45196204
41 CSTB NM_000100.3(CSTB): c.-54C> T single nucleotide variant Likely benign rs59649299 GRCh38 Chromosome 21, 43776323: 43776323
42 CSTB NM_000100.3(CSTB): c.*301G> A single nucleotide variant Uncertain significance rs886057111 GRCh37 Chromosome 21, 45193782: 45193782
43 CSTB NM_000100.3(CSTB): c.*301G> A single nucleotide variant Uncertain significance rs886057111 GRCh38 Chromosome 21, 43773901: 43773901
44 CSTB NM_000100.3(CSTB): c.*227A> G single nucleotide variant Uncertain significance rs886057112 GRCh37 Chromosome 21, 45193856: 45193856
45 CSTB NM_000100.3(CSTB): c.*227A> G single nucleotide variant Uncertain significance rs886057112 GRCh38 Chromosome 21, 43773975: 43773975
46 CSTB NM_000100.3(CSTB): c.*74T> C single nucleotide variant Likely benign rs6385 GRCh38 Chromosome 21, 43774128: 43774128
47 CSTB NM_000100.3(CSTB): c.*74T> C single nucleotide variant Likely benign rs6385 GRCh37 Chromosome 21, 45194009: 45194009
48 CSTB NM_000100.3(CSTB): c.-42C> T single nucleotide variant Conflicting interpretations of pathogenicity rs776181852 GRCh37 Chromosome 21, 45196192: 45196192
49 CSTB NM_000100.3(CSTB): c.-42C> T single nucleotide variant Conflicting interpretations of pathogenicity rs776181852 GRCh38 Chromosome 21, 43776311: 43776311
50 CSTB NM_000100.3(CSTB): c.-55G> A single nucleotide variant Uncertain significance rs533879406 GRCh37 Chromosome 21, 45196205: 45196205

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

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 glycogen biosynthetic process GO:0005978 9.16 EPM2A NHLRC1
3 negative regulation of proteolysis GO:0045861 8.96 CLN3 CSTB
4 action potential GO:0001508 8.62 CLN3 SCARB2

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

# Name GO ID Score Top Affiliating Genes
1 scavenger receptor activity GO:0005044 8.96 SCARB2 TMPRSS3
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
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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