MCID: UNV001
MIFTS: 41

Unverricht-Lundborg Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Unverricht-Lundborg Syndrome

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Sources:
11Disease Ontology, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 25GTR, 37MeSH, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 60SNOMED-CT
See all MalaCards sources

Aliases & Descriptions for Unverricht-Lundborg Syndrome:

Name: Unverricht-Lundborg Syndrome 11 24 13 37 66
Unverricht-Lundborg Disease 11 22 46 23 24 52
Epm1 46 23 24
Myoclonic Epilepsy of Unverricht and Lundborg 46 24
Epilepsy, Progressive Myoclonus 1 46 23
Progressive Myoclonus Epilepsy 1 23 24
Lundborg-Unverricht Syndrome 24 25
Uld 24 52
Myoclonus Progressive Epilepsy of Unverricht and Lundborg 46
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy 46
Epilepsy, Progressive Myoclonic Type 1 46
Unverricht-Lundborg Myoclonus Epilepsy 23
Progressive Myoclonus Epilepsy Type 1 52
 
Progressive Myoclonic Epilepsy Type 1 52
Myoclonic Epilepsies, Progressive 66
Mediterranean Myoclonic Epilepsy 24
Progressive Myoclonic Epilepsy 1 23
Progressive Myoclonic Epilepsy 24
Unverricht - Lundborg Disease 11
Baltic Myoclonic Epilepsy 24
Baltic Myoclonus Epilepsy 24
Unverricht's Disease 11
Baltic Myoclonus 24
Pme Type 1 52
Pme 24

Characteristics:

Orphanet epidemiological data:

52
unverricht-lundborg disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Childhood

Classifications:



External Ids:

Disease Ontology11 DOID:3535
MeSH37 D020194
Orphanet52 ORPHA308
ICD10 via Orphanet29 G40.3
MESH via Orphanet38 D020194
UMLS via Orphanet67 C0751785

Summaries for Unverricht-Lundborg Syndrome

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NIH Rare Diseases:46 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, seizures and ataxia. An important gene associated with Unverricht-Lundborg Syndrome is CSTB (Cystatin B). Related mouse phenotypes are no phenotypic analysis and muscle.

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.

Related Diseases for Unverricht-Lundborg Syndrome

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

(show all 31)
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 1a11.7
5epilepsy, progressive myoclonic 4, with or without renal failure11.7
6epilepsy, progressive myoclonic 511.7
7epilepsy, progressive myoclonic 711.7
8epilepsy, progressive myoclonic 611.6
9epilepsy, progressive myoclonic, 911.6
10epilepsy, progressive myoclonic, 811.6
11progressive myoclonus epilepsy11.3
12epilepsy10.3
13myoclonus10.3
14pulmonary fibrosis, familial10.2EPM2A, NHLRC1
15amyloidosis cutis dyschromia9.9EPM2A, NHLRC1, PRDM8
16lethal congenital contracture syndrome 89.9PRICKLE1, TBC1D24
17early onset absence epilepsy9.7EFHC1, TBC1D24
18mononeuritis multiplex9.7EFHC1, KCNQ3
19interstitial lung disease9.6MT-TK, TBC1D24
20childhood malignant hemangiopericytoma9.6CSTB, EFHC1, TBC1D24
21blount's disease9.6KCNQ3, TBC1D24
22gaba aminotransferase deficiency9.5KCNQ3, TBC1D24
23dermatophytosis9.5CSTB, EPM2A, NHLRC1, PRICKLE1, SCARB2
24neurological consequences of cytomegalovirus infection9.5CSTB, EPM2A, NHLRC1, PRICKLE1, SCARB2
25childhood electroclinical syndrome9.4KCNQ3, MT-TK, TBC1D24
26ohtahara syndrome9.1CSTB, EFHC1, KCNQ3, TBC1D24
27myofibrillar lysis9.1CSTB, EPM2A, NHLRC1, PRDM8, PRICKLE1, SCARB2
28epilepsy, generalized, with febrile seizures plus, type 59.1CSTB, EFHC1, KCNQ3, TBC1D24
29treacher collins syndrome 38.8CLN3, CSTB, EPM2A, MT-TK, NHLRC1, PRDM8
30urethral stricture8.3CSTB, EFHC1, EPM2A, NHLRC1, PRICKLE1, SCARB2
31cerebral ventricle cancer6.0CLN3, CSTB, EFHC1, EPM2A, GLRA1, KCNQ3

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 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
DopaminePhase 2367851-61-6, 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
2
RopinirolePhase 27291374-20-8, 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
3Dopamine agonistsPhase 2611
4
Acetylcysteine304616-91-112035
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
5
protease inhibitors5157
Synonyms:
 
protease inhibitors
6serineNutraceutical883

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 TypeEnrolling by invitationNCT00639119Phase 2
5Clinical and Genetic Studies of Familial Presenile Dementia With Neuronal Inclusion BodiesCompletedNCT00006176
6Intravenous High Dose NAC and Sodium Bicarbonate for the Prevention of Contrast-induced Acute InjuryCompletedNCT01612013

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 Syndrome25
2 Unverricht-Lundborg Disease23 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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.5CLN3, CSTB, GLRA1, NHLRC1, PRICKLE1
2MP:00053698.4CSTB, EFHC1, EPM2A, GLRA1, NHLRC1, PRICKLE1
3MP:00053847.4CLN3, CSTB, EFHC1, EPM2A, GLRA1, NHLRC1
4MP:00053866.4CLN3, CSTB, EFHC1, EPM2A, GLRA1, KCNQ3
5MP:00036316.1CLN3, 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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet