MCID: UNV001
MIFTS: 40

Unverricht-Lundborg Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases

Aliases & Classifications for Unverricht-Lundborg Syndrome

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Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 30ICD10 via Orphanet, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 53Orphanet, 61SNOMED-CT, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Unverricht-Lundborg Syndrome:

Name: Unverricht-Lundborg Syndrome 11 25 38 13 67
Unverricht-Lundborg Disease 11 23 47 24 25 53
Epm1 47 24 25
Myoclonic Epilepsy of Unverricht and Lundborg 47 25
Epilepsy, Progressive Myoclonus 1 47 24
Progressive Myoclonus Epilepsy 1 24 25
Lundborg-Unverricht Syndrome 25 26
Uld 25 53
Myoclonus Progressive Epilepsy of Unverricht and Lundborg 47
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy 47
Epilepsy, Progressive Myoclonic Type 1 47
Unverricht-Lundborg Myoclonus Epilepsy 24
Progressive Myoclonus Epilepsy Type 1 53
 
Progressive Myoclonic Epilepsy Type 1 53
Myoclonic Epilepsies, Progressive 67
Mediterranean Myoclonic Epilepsy 25
Progressive Myoclonic Epilepsy 1 24
Progressive Myoclonic Epilepsy 25
Unverricht - Lundborg Disease 11
Baltic Myoclonic Epilepsy 25
Baltic Myoclonus Epilepsy 25
Unverricht's Disease 11
Baltic Myoclonus 25
Pme Type 1 53
Pme 25

Characteristics:

Orphanet epidemiological data:

53
unverricht-lundborg disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Childhood

Classifications:



External Ids:

Disease Ontology11 DOID:3535
MeSH38 D020194
Orphanet53 ORPHA308
MESH via Orphanet39 D020194
UMLS via Orphanet68 C0751785
ICD10 via Orphanet30 G40.3

Summaries for Unverricht-Lundborg Syndrome

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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.

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 1a, and has symptoms including myoclonus, seizures and ataxia. An important gene associated with Unverricht-Lundborg Syndrome is CSTB (Cystatin B). Related mouse phenotypes are muscle and no phenotypic analysis.

GeneReviews for NBK1142

Related Diseases for Unverricht-Lundborg Syndrome

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Graphical network of the top 20 diseases related to Unverricht-Lundborg Syndrome:



Diseases related to unverricht-lundborg syndrome

Symptoms for Unverricht-Lundborg Syndrome

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UMLS symptoms related to Unverricht-Lundborg Syndrome:


myoclonus, seizures, ataxia, hyperexplexia, epileptic aura, seizures, tonic, myoclonus, eyelid, seizures, focal, convulsion in childhood

Drugs & Therapeutics for Unverricht-Lundborg Syndrome

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

(show all 22)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Soy BeanNutraceuticalPhase 4535
2
DopamineapprovedPhase 2375951-61-6, 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 27391374-20-8, 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 23759
5Antiparkinson AgentsPhase 21527
6Neurotransmitter AgentsPhase 217734
7Dopamine agonistsPhase 2618
8
Acetylcysteineapproved316616-91-112035
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-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
9HIV Protease Inhibitors5319
10Respiratory System Agents4818
11Neuroserpin3
12Serine Proteinase Inhibitors850
13Protective Agents7190
14
protease inhibitors5320
Synonyms:
 
protease inhibitors
15Antioxidants2928
16Anti-Infective Agents21402
17Antidotes1038
18Pharmaceutical Solutions7793
19Antiviral Agents9732
20Expectorants388
21N-monoacetylcystine316
22serineNutraceutical921

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

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Genetic tests related to Unverricht-Lundborg Syndrome:

id Genetic test Affiliating Genes
1 Unverricht-Lundborg Syndrome26
2 Unverricht-Lundborg Disease24 CSTB

Anatomical Context for Unverricht-Lundborg Syndrome

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Animal Models for Unverricht-Lundborg Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Unverricht-Lundborg Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0CSTB, EFHC1, EPM2A, GLRA1, NHLRC1, PRICKLE1
2MP:00030128.3CLN3, CSTB, GLRA1, NHLRC1, PRICKLE1
3MP:00053848.0CLN3, CSTB, EFHC1, EPM2A, GLRA1, NHLRC1
4MP:00053867.2CLN3, CSTB, EFHC1, EPM2A, GLRA1, KCNQ3
5MP:00036317.1CLN3, CSTB, EFHC1, EPM2A, GLRA1, KCNQ3

Publications for Unverricht-Lundborg Syndrome

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Articles related to Unverricht-Lundborg Syndrome:

idTitleAuthorsYear
1
Unverricht-Lundborg syndrome. (4645684)
1972

Variations for Unverricht-Lundborg Syndrome

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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)SNVLikely pathogenic, Pathogenicrs386833439GRCh37Chr 21, 45194582: 45194582
7CSTBNM_000100.3(CSTB): c.168G> A (p.Lys56=)SNVLikely pathogenic, Pathogenicrs386833440GRCh37Chr 21, 45194539: 45194539
8CSTBNM_000100.3(CSTB): c.169-2A> GSNVLikely pathogenic, Pathogenicrs386833441GRCh37Chr 21, 45194213: 45194213
9CSTBNM_000100.3(CSTB): c.218_219delTC (p.Leu73Profs)deletionLikely pathogenic, Pathogenicrs796943858GRCh37Chr 21, 45194161: 45194162
10CSTBNM_000100.3(CSTB): c.66G> A (p.Gln22=)SNVLikely pathogenic, 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, 2404TCdeletionPathogenicChr na, -1: -1
16CSTBNM_000100.3(CSTB): c.212A> C (p.Gln71Pro)SNVPathogenicrs121909346GRCh37Chr 21, 45194168: 45194168

Expression for genes affiliated with Unverricht-Lundborg Syndrome

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

Pathways for genes affiliated with Unverricht-Lundborg Syndrome

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GO Terms for genes affiliated with Unverricht-Lundborg Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of proteolysisGO:00458619.6CLN3, CSTB
2action potentialGO:00015089.5CLN3, GLRA1
3positive regulation of protein ubiquitinationGO:00313989.4NHLRC1, PRICKLE1

Sources for Unverricht-Lundborg Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet