PME
MCID: UNV001
MIFTS: 41

Unverricht-Lundborg Syndrome (PME) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Unverricht-Lundborg Syndrome

About this section
Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Unverricht-Lundborg Syndrome:

Name: Unverricht-Lundborg Syndrome 11 25 39 13 68
Unverricht-Lundborg Disease 11 23 48 24 25 54
Epm1 48 24 25
Myoclonic Epilepsy of Unverricht and Lundborg 48 25
Epilepsy, Progressive Myoclonus 1 48 24
Progressive Myoclonus Epilepsy 1 24 25
Lundborg-Unverricht Syndrome 25 27
Uld 25 54
Myoclonus Progressive Epilepsy of Unverricht and Lundborg 48
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy 48
Epilepsy, Progressive Myoclonic Type 1 48
Unverricht-Lundborg Myoclonus Epilepsy 24
Progressive Myoclonic Epilepsy Type 1 54
 
Progressive Myoclonus Epilepsy Type 1 54
Myoclonic Epilepsies, Progressive 68
Progressive Myoclonic Epilepsy 1 24
Mediterranean Myoclonic Epilepsy 25
Progressive Myoclonic Epilepsy 25
Unverricht - Lundborg Disease 11
Baltic Myoclonus Epilepsy 25
Baltic Myoclonic Epilepsy 25
Unverricht's Disease 11
Baltic Myoclonus 25
Pme Type 1 54
Pme 25

Characteristics:

Orphanet epidemiological data:

54
unverricht-lundborg disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Childhood

Classifications:



External Ids:

Disease Ontology11 DOID:3535
MeSH39 D020194
Orphanet54 ORPHA308
MESH via Orphanet40 D020194
UMLS via Orphanet69 C0751785
ICD10 via Orphanet31 G40.3

Summaries for Unverricht-Lundborg Syndrome

About this section
NIH Rare Diseases:48 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 myoclonus, ataxia and ataxia. An important gene associated with Unverricht-Lundborg Syndrome is CSTB (Cystatin B). Related mouse phenotypes are muscle and no phenotypic analysis.

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 for NBK1142

Related Diseases for Unverricht-Lundborg Syndrome

About this section

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

(show all 25)
idRelated DiseaseScoreTop Affiliating Genes
1spinal muscular atrophy with progressive myoclonic epilepsy12.5
2epilepsy, progressive myoclonic 2b11.8
3epilepsy, progressive myoclonic 3, with or without intracellular inclusions11.8
4epilepsy, progressive myoclonic 1a11.2
5progressive myoclonus epilepsy11.2
6epilepsy10.2
7myoclonus10.2
8scn1a-related seizure disorders10.1EPM2A, NHLRC1
9hypertriglyceridemia, transient infantile10.1PRICKLE1, TBC1D24
10gingivitis10.0CSTB, EPM2A, MT-TK
113-methylcrotonyl-coa carboxylase deficiency10.0EFHC1, TBC1D24
12adult brain ependymoma10.0CSTB, EFHC1, TBC1D24
13autosomal recessive myogenic arthrogryposis multiplex congenita10.0EPM2A, NHLRC1, PRDM8
14gingival disease9.9KCNQ3, TBC1D24
15adolescence-adult electroclinical syndrome9.9KCNQ3, MT-TK, TBC1D24
16wagro syndrome9.9KCNQ3, TBC1D24
17overuse syndrome9.9CSTB, EPM2A, NHLRC1, PRICKLE1, SCARB2
18aceruloplasminemia9.8CSTB, EFHC1, KCNQ3, TBC1D24
19epilepsy, generalized, with febrile seizures plus, type 59.8CSTB, EFHC1, KCNQ3, TBC1D24
20cataract 449.8CSTB, EPM2A, MT-TK, NHLRC1, PRICKLE1, SCARB2
21myosin storage myopathy9.7CSTB, EPM2A, NHLRC1, PRDM8, PRICKLE1, SCARB2
22evans' syndrome9.7CSTB, EPM2A, NHLRC1, PRDM8, PRICKLE1, SCARB2
23leukodystrophy, hypomyelinating, 119.6CLN3, CSTB, EPM2A, MT-TK, NHLRC1, PRDM8
24mononeuritis multiplex9.3CSTB, EFHC1, EPM2A, KCNQ3, NHLRC1, PRICKLE1
25atypical choroid plexus papilloma8.3CLN3, 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

About this section

Human phenotypes related to Unverricht-Lundborg Syndrome:

 54 (show all 10)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myoclonus54 Very frequent (99-80%)
2 limb ataxia54 Very frequent (99-80%)
3 eeg with polyspike wave complexes54 Very frequent (99-80%)
4 morning myoclonic jerks54 Very frequent (99-80%)
5 ataxia54 Frequent (79-30%)
6 dysarthria54 Frequent (79-30%)
7 intention tremor54 Frequent (79-30%)
8 dementia54 Occasional (29-5%)
9 cutaneous photosensitivity54 Occasional (29-5%)
10 intellectual disability54 Occasional (29-5%)

UMLS symptoms related to Unverricht-Lundborg Syndrome:


myoclonus, ataxia

MGI Mouse Phenotypes related to Unverricht-Lundborg Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.3CSTB, EFHC1, EPM2A, GLRA1, KCNC1, NHLRC1
2MP:00030128.1CLN3, CSTB, GLRA1, NHLRC1, PRICKLE1
3MP:00053847.9CLN3, CSTB, EFHC1, EPM2A, GLRA1, NHLRC1
4MP:00053866.6CLN3, CSTB, EFHC1, EPM2A, GLRA1, KCNC1
5MP:00036316.5CLN3, CSTB, EFHC1, EPM2A, GLRA1, KCNC1

Drugs & Therapeutics for Unverricht-Lundborg Syndrome

About this section

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

(show all 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Soy BeanNutraceuticalPhase 4554
2
DopamineapprovedPhase 2383651-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
3
Ropiniroleapproved, investigationalPhase 27491374-20-8, 91374-21-95095, 497540
Synonyms:
1,3-Dihydro-4-(2-(dipropylamino)ethyl)-2H-indol-2-one monohydrochloride
2(H)-Indol-2-one, 4-(2-(dipropylamino)ethyl)-1,3-dihydro-, monohydrochloride
2H-Indol-2-one, 1,3-dihydro-4-(2-(dipropylamino)ethyl)-, monohydrochloride
2H-Indol-2-one, 4-[2-(dipropylamino)ethyl]-1,3-dihydro-, hydrochloride (1:1)
4-(2-(Dipropylamino)ethyl)-2-indolinone monohydrochloride
4-[2-(Dipropylamino)ethyl]-1,3-dihydro-2H-indol-2-one
4-[2-(Dipropylamino)ethyl]indoline-2-one
4-[2-(dipropylamino)ethyl]-1,3-dihydro-2H-indol-2-one hydrochloride
4-[2-(dipropylamino)ethyl]-1,3-dihydroindol-2-one
4-[2-(dipropylamino)ethyl]-1,3-dihydroindol-2-one hydrochloride
91374-20-8
91374-20-8 (hydrochloride)
91374-21-9
91374-21-9 (Parent)
AB1004799
AC-735
AC1L1JLL
AC1L2ABS
AC1Q3EQJ
AR-1L3132
Adartrel
BIDD:GT0826
BRD-K15933101-003-01-2
C07564
CHEBI:8888
CHEMBL1200411
CHEMBL589
CID5095
CID68727
D00784
D08489
DB00268
EU-0101101
HMS2093K04
I06-0692
I06-0693
JZP-7
L000520
LS-83828
LS-83890
Lopac-R-4152
Lopac0_001101
 
MolPort-003-666-598
MolPort-003-987-439
NCGC00015893-01
NCGC00015893-04
NCGC00094373-01
NCGC00096064-01
NCGC00096064-02
NVD-434
R 4152
ReQuip
ReQuip CR
ReQuip LP
ReQuip XL
ReQuip XR
Repreve
Requip (TN)
Ropinirol
Ropinirol [INN-Spanish]
Ropinirole
Ropinirole (INN)
Ropinirole HCl
Ropinirole [INN:BAN]
Ropinirole hydrochloride
Ropinirole hydrochloride (JAN/USAN)
Ropinirole hydrochloride [USAN]
Ropinirolum
Ropinirolum [INN-Latin]
Ropitor
Ropitor (TN)
SK&F 101468
SK&F 101468-A
SK&F-101,468
SK&F-101468-A
SK&F-101468A
SKF 101468
SKF 101468-A
SPECTRUM1505178
ST51051236
TL8005858
TL8005859
UNII-030PYR8953
UNII-D7ZD41RZI9
ropinirol
4Dopamine AgentsPhase 23836
5Antiparkinson AgentsPhase 21574
6Neurotransmitter AgentsPhase 218340
7Dopamine agonistsPhase 2632
8
Acetylcysteineapproved, investigational330616-91-112035
Synonyms:
(2R)-2-acetylamino-3-sulfanylpropanoic acid
(R)-2-acetylamino-3-mercaptopropanoic acid
(R)-mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
Fluprowit
 
L-Acetylcysteine
L-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
9HIV Protease Inhibitors5470
10Respiratory System Agents4997
11Neuroserpin3
12Serine Proteinase Inhibitors878
13Protective Agents7443
14
protease inhibitors5471
Synonyms:
 
protease inhibitors
15Antioxidants3050
16Anti-Infective Agents22062
17Antidotes1071
18Pharmaceutical Solutions8192
19Antiviral Agents9967
20Expectorants404
21N-monoacetylcystine330
22serineNutraceutical954

Interventional clinical trials:

idNameStatusNCT IDPhase
1Soy Polysaccharide Fiber for the Treatment of Chronic Constipation in Children: a Randomized, Double-blind TrialCompletedNCT01267370Phase 4
2Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease in Adolescents and AdultsCompletedNCT00357669Phase 3
3Brivaracetam as add-on Treatment of Unverricht-Lundborg Disease (ULD) in Adolescents and AdultsCompletedNCT00368251Phase 3
4Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg TypeUnknown statusNCT00639119Phase 2
5Intravenous High Dose NAC and Sodium Bicarbonate for the Prevention of Contrast-induced Acute InjuryCompletedNCT01612013
6Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion BodiesCompletedNCT00006176

Search NIH Clinical Center for Unverricht-Lundborg Syndrome


Cochrane evidence based reviews: unverricht-lundborg syndrome

Genetic Tests for Unverricht-Lundborg Syndrome

About this section

Genetic tests related to Unverricht-Lundborg Syndrome:

id Genetic test Affiliating Genes
1 Unverricht-Lundborg Syndrome27
2 Unverricht-Lundborg Disease24 CSTB

Anatomical Context for Unverricht-Lundborg Syndrome

About this section

Publications for Unverricht-Lundborg Syndrome

About this section

Articles related to Unverricht-Lundborg Syndrome:

idTitleAuthorsYear
1
Unverricht-Lundborg syndrome. (4645684)
1972

Variations for Unverricht-Lundborg Syndrome

About this section

Clinvar genetic disease variations for Unverricht-Lundborg Syndrome:

5 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1CSTBNM_ 000100.3(CSTB): c.136C> T (p.Gln46Ter)SNVPathogenicrs545986367GRCh38Chr 21, 43774690: 43774690
2CSTBNM_ 000100.3(CSTB): c.149G> A (p.Gly50Glu)SNVPathogenicrs312262708GRCh38Chr 21, 43774677: 43774677
3CSTBNM_ 000100.3(CSTB): c.168+1_ 168+18deldeletionPathogenicrs312262707GRCh38Chr 21, 43774640: 43774657
4CSTBNM_ 000100.3(CSTB): c.168+2_ 168+21delinsAAindelPathogenicrs864309482GRCh38Chr 21, 43774637: 43774656
5CSTBNM_ 000100.3(CSTB): c.-210_ -199(30_ 125)NT expansionPathogenicrs386833438GRCh37Chr 21, 45196349: 45196360
6CSTBNM_ 000100.3(CSTB): c.125C> A (p.Ser42Ter)SNVPathogenic/ Likely pathogenicrs386833439GRCh37Chr 21, 45194582: 45194582
7CSTBNM_ 000100.3(CSTB): c.168G> A (p.Lys56=)SNVPathogenic/ Likely pathogenicrs386833440GRCh37Chr 21, 45194539: 45194539
8CSTBNM_ 000100.3(CSTB): c.169-2A> GSNVPathogenic/ Likely pathogenicrs386833441GRCh37Chr 21, 45194213: 45194213
9CSTBNM_ 000100.3(CSTB): c.218_ 219delTC (p.Leu73Profs)deletionPathogenic/ Likely pathogenicrs796943858GRCh37Chr 21, 45194161: 45194162
10CSTBNM_ 000100.3(CSTB): c.66G> A (p.Gln22=)SNVPathogenic/ Likely pathogenicrs386833443GRCh37Chr 21, 45196085: 45196085
11CSTBNM_ 000100.3(CSTB): c.67-1G> CSNVPathogenicrs147484110GRCh37Chr 21, 45194641: 45194641
12CSTBNM_ 000100.3(CSTB): c.202C> T (p.Arg68Ter)SNVPathogenicrs74315442GRCh37Chr 21, 45194178: 45194178
13CSTBNM_ 000100.3(CSTB): c.10G> C (p.Gly4Arg)SNVPathogenicrs74315443GRCh37Chr 21, 45196141: 45196141
14CSTBNM_ 000100.3(CSTB): c.-210CCCCGCCCCGCG(2_ 3)NT expansionPathogenicrs193922905GRCh37Chr 21, 45196360: 45196371
15CSTBCSTB, 2-BP DEL, 2404TCdeletionPathogenic
16CSTBNM_ 000100.3(CSTB): c.212A> C (p.Gln71Pro)SNVPathogenicrs121909346GRCh37Chr 21, 45194168: 45194168

Expression for genes affiliated with Unverricht-Lundborg Syndrome

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

Pathways for genes affiliated with Unverricht-Lundborg Syndrome

About this section

GO Terms for genes affiliated with Unverricht-Lundborg Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1glycogen biosynthetic processGO:000597810.1EPM2A, NHLRC1
2negative regulation of proteolysisGO:00458619.6CLN3, CSTB
3action potentialGO:00015089.5CLN3, GLRA1

Sources for Unverricht-Lundborg Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet