PME
MCID: UNV001
MIFTS: 41

Unverricht-Lundborg Syndrome (PME) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Unverricht-Lundborg Syndrome

Aliases & Descriptions for Unverricht-Lundborg Syndrome:

Name: Unverricht-Lundborg Syndrome 12 25 42 14 69
Unverricht-Lundborg Disease 12 23 50 24 25 56
Epm1 50 24 25
Myoclonic Epilepsy of Unverricht and Lundborg 50 25
Epilepsy, Progressive Myoclonus 1 50 24
Progressive Myoclonus Epilepsy 1 24 25
Lundborg-Unverricht Syndrome 25 29
Uld 25 56
Myoclonus Progressive Epilepsy of Unverricht and Lundborg 50
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy 50
Epilepsy, Progressive Myoclonic Type 1 50
Unverricht-Lundborg Myoclonus Epilepsy 24
Progressive Myoclonic Epilepsy Type 1 56
Progressive Myoclonus Epilepsy Type 1 56
Myoclonic Epilepsies, Progressive 69
Progressive Myoclonic Epilepsy 1 24
Mediterranean Myoclonic Epilepsy 25
Progressive Myoclonic Epilepsy 25
Unverricht - Lundborg Disease 12
Baltic Myoclonic Epilepsy 25
Baltic Myoclonus Epilepsy 25
Unverricht's Disease 12
Baltic Myoclonus 25
Pme Type 1 56
Pme 25

Characteristics:

Orphanet epidemiological data:

56
unverricht-lundborg disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Childhood;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3535
MeSH 42 D020194
Orphanet 56 ORPHA308
MESH via Orphanet 43 D020194
UMLS via Orphanet 70 C0751785
ICD10 via Orphanet 34 G40.3
UMLS 69 C0751785

Summaries for Unverricht-Lundborg Syndrome

NIH Rare Diseases : 50 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 spinal muscular atrophy with progressive myoclonic epilepsy and epilepsy, progressive myoclonic 2b, and has symptoms including ataxia, myoclonus and intellectual disability. An important gene associated with Unverricht-Lundborg Syndrome is CSTB (Cystatin B). The drugs Soy Bean and Dopamine have been mentioned in the context of this disorder. Related phenotypes are behavior/neurological and cellular

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.

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 all 25)
id Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy with progressive myoclonic epilepsy 12.5
2 epilepsy, progressive myoclonic 2b 11.8
3 epilepsy, progressive myoclonic 3, with or without intracellular inclusions 11.8
4 epilepsy, progressive myoclonic 1a 11.2
5 progressive myoclonus epilepsy 11.2
6 epilepsy 10.2
7 myoclonus 10.2
8 scn1a-related seizure disorders 10.1 EPM2A NHLRC1
9 hypertriglyceridemia, transient infantile 10.1 PRICKLE1 TBC1D24
10 gingivitis 10.0 CSTB EPM2A MT-TK
11 3-methylcrotonyl-coa carboxylase deficiency 10.0 EFHC1 TBC1D24
12 adult brain ependymoma 10.0 CSTB EFHC1 TBC1D24
13 autosomal recessive myogenic arthrogryposis multiplex congenita 10.0 EPM2A NHLRC1 PRDM8
14 gingival disease 9.9 KCNQ3 TBC1D24
15 adolescence-adult electroclinical syndrome 9.9 KCNQ3 MT-TK TBC1D24
16 wagro syndrome 9.9 KCNQ3 TBC1D24
17 overuse syndrome 9.9 CSTB EPM2A NHLRC1 PRICKLE1 SCARB2
18 aceruloplasminemia 9.8 CSTB EFHC1 KCNQ3 TBC1D24
19 epilepsy, generalized, with febrile seizures plus, type 5 9.8 CSTB EFHC1 KCNQ3 TBC1D24
20 cataract 44 9.8 CSTB EPM2A MT-TK NHLRC1 PRICKLE1 SCARB2
21 myosin storage myopathy 9.7 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1 SCARB2
22 evans' syndrome 9.7 CSTB EPM2A NHLRC1 PRDM8 PRICKLE1 SCARB2
23 leukodystrophy, hypomyelinating, 11 9.6 CLN3 CSTB EPM2A MT-TK NHLRC1 PRDM8
24 mononeuritis multiplex 9.3 CSTB EFHC1 EPM2A KCNQ3 NHLRC1 PRICKLE1
25 atypical choroid plexus papilloma 8.3 CLN3 CSTB EFHC1 EPM2A GLRA1 KCNC1

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:

56 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 Frequent (79-30%)
2 myoclonus 56 Very frequent (99-80%)
3 intellectual disability 56 Occasional (29-5%)
4 dysarthria 56 Frequent (79-30%)
5 limb ataxia 56 Very frequent (99-80%)
6 intention tremor 56 Frequent (79-30%)
7 eeg with polyspike wave complexes 56 Very frequent (99-80%)
8 dementia 56 Occasional (29-5%)
9 cutaneous photosensitivity 56 Occasional (29-5%)
10 morning myoclonic jerks 56 Very frequent (99-80%)

UMLS symptoms related to Unverricht-Lundborg Syndrome:


myoclonus, ataxia

MGI Mouse Phenotypes related to Unverricht-Lundborg Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 PRDM8 PRICKLE1 SCARB2 CLN3 CSTB EFHC1
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 22)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Soy Bean Nutraceutical Phase 4
2
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
3
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 5095 497540
4 Antiparkinson Agents Phase 2
5 Dopamine Agents Phase 2
6 Dopamine agonists Phase 2
7 Neurotransmitter Agents Phase 2
8
Acetylcysteine Approved, Investigational 616-91-1 12035
9 Antidotes
10 Anti-Infective Agents
11 Antioxidants
12 Antiviral Agents
13 Expectorants
14 N-monoacetylcystine
15 Pharmaceutical Solutions
16 Protective Agents
17 Respiratory System Agents
18 HIV Protease Inhibitors
19 Neuroserpin
20
protease inhibitors
21 Serine Proteinase Inhibitors
22 serine Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
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
3 Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and Adults Completed NCT00368251 Phase 3
4 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2
5 Intravenous High Dose NAC and Sodium Bicarbonate for the Prevention of Contrast-induced Acute Injury Completed NCT01612013
6 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:

id Genetic test Affiliating Genes
1 Unverricht-Lundborg Syndrome 29
2 Unverricht-Lundborg Disease 24 CSTB

Anatomical Context for Unverricht-Lundborg Syndrome

Publications for Unverricht-Lundborg Syndrome

Articles related to Unverricht-Lundborg Syndrome:

id 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 16)
id 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

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:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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