PME
MCID: UNV001
MIFTS: 51

Unverricht-Lundborg Syndrome (PME)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Unverricht-Lundborg Syndrome

MalaCards integrated aliases for Unverricht-Lundborg Syndrome:

Name: Unverricht-Lundborg Syndrome 12 25 29 6 43 15 71
Unverricht-Lundborg Disease 12 74 24 52 25 58 36
Myoclonic Epilepsy of Unverricht and Lundborg 52 25
Epm1 52 25
Uld 25 58
Myoclonus Progressive Epilepsy of Unverricht and Lundborg 52
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy 52
Epilepsy, Progressive Myoclonic Type 1 52
Progressive Myoclonic Epilepsy Type 1 58
Progressive Myoclonus Epilepsy Type 1 58
Epilepsy, Progressive Myoclonus 1 52
Myoclonic Epilepsies, Progressive 71
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 58
Pme 25

Characteristics:

Orphanet epidemiological data:

58
unverricht-lundborg disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (France); Age of onset: Adolescent,Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3535
KEGG 36 H01995
MeSH 43 D020194
SNOMED-CT 67 230423006
MESH via Orphanet 44 D020194
ICD10 via Orphanet 33 G40.3
UMLS via Orphanet 72 C0751785
Orphanet 58 ORPHA308
UMLS 71 C0751778 C0751785

Summaries for Unverricht-Lundborg Syndrome

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. Unverricht-Lundborg disease is classified as a type of progressive myoclonus epilepsy. People with this disorder experience 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. Within 5 to 10 years, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities. Affected individuals also usually have 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. Eventually people with Unverricht-Lundborg disease may develop problems with balance and coordination (ataxia), involuntary rhythmic shaking called intention tremor because it worsens during movement, difficulty speaking (dysarthria), depression, and a slow, mild decline in intellectual functioning. People with Unverricht-Lundborg disease typically live into adulthood. Depending on the severity of the condition and a person's response to treatment, life expectancy may be normal.

MalaCards based summary : Unverricht-Lundborg Syndrome, also known as unverricht-lundborg disease, is related to spinal muscular atrophy with progressive myoclonic epilepsy and myoclonic epilepsy of unverricht and lundborg, and has symptoms including ataxia and myoclonus. An important gene associated with Unverricht-Lundborg Syndrome is CSTB (Cystatin B), and among its related pathways/superpathways is Lysosome. The drugs Brivaracetam and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include testes, cortex and brain, and related phenotypes are limb ataxia and eeg with polyspike wave complexes

Disease Ontology : 12 A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline.

NIH Rare Diseases : 52 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.

KEGG : 36 Unverricht-Lundborg disease (ULD), also known as progressive myoclonic epilepsy type 1 (EPM1), is an autosomal recessively inherited neurodegenerative disorder characterized by age of onset from 6 to 16 years, stimulus-sensitive myoclonus, and tonic-clonic epileptic seizures. The mutations in the CSTB gene encoding cystatin B are responsible for this disease.

Wikipedia : 74 Unverricht-Lundborg disease (abbreviated ULD or EPM1) is the most common form of an uncommon group of... more...

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 top 50) (show all 196)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy with progressive myoclonic epilepsy 34.2 KCTD7 GOSR2
2 myoclonic epilepsy of unverricht and lundborg 33.3 SCARB2 GOSR2 EPM2A CSTB
3 progressive myoclonus epilepsy 7 33.2 KCNC1 CSTB
4 progressive myoclonus epilepsy 6 33.1 GOSR2 EPM2A CSTB
5 progressive myoclonus epilepsy 1a 33.0 KCTD7 EPM2A CSTB
6 progressive myoclonus epilepsy 1b 33.0 PUS7L PRICKLE1 KCTD7
7 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 32.6 CLN6 CLN3
8 progressive myoclonus epilepsy 3 32.6 KCTD7 CLN6
9 progressive myoclonus epilepsy 4 32.1 SCARB2 PRICKLE1 KCTD7 EPM2A CSTB
10 progressive myoclonus epilepsy 31.4 SCARB2 PRICKLE1 PRDM8 NHLRC1 KCTD7 KCNC1
11 myoclonus epilepsy 31.1 PRICKLE1 NHLRC1 EPM2A CSTB
12 progressive myoclonus epilepsy, lafora type 30.9 NHLRC1 EPM2A
13 neuronal ceroid-lipofuscinoses 30.8 CLN6 CLN3
14 glycoproteinosis 30.7 NHLRC1 MT-TK CSTB CLN6
15 lennox-gastaut syndrome 30.2 SV2A SCN1B KCNQ3
16 myoclonus 30.1 SCARB2 PRICKLE1 NHLRC1 KCTD7 KCNC1 GOSR2
17 dystonia 30.0 SV2A KCTD7 CSTB CLN6 CLN3
18 lysosomal storage disease 30.0 SV2A CTSB CLN6 CLN3
19 myoclonic epilepsy of lafora 29.8 PRDM8 NHLRC1 MT-TK EPM2A CSTB CLN6
20 photosensitive epilepsy 29.8 SV2A SCN1B NHLRC1 KCNQ3 EFHC1 CLN6
21 early myoclonic encephalopathy 29.7 SV2A SCN1B NHLRC1 MT-TK KCTD7 KCNQ3
22 visual epilepsy 29.7 SCN1B NHLRC1 KCTD7 GOSR2 EPM2A CLN6
23 epilepsy, myoclonic juvenile 29.4 SV2A SCN1B NHLRC1 MT-TK KCNQ3 EPM2A
24 epilepsy 28.1 SV2A SCN1B SCARB2 PRICKLE1 PRDM8 NHLRC1
25 progressive myoclonic epilepsy with neuroserpin inclusion bodies 12.4
26 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 12.4
27 epilepsy, progressive myoclonic, 8 12.2
28 epilepsy, progressive myoclonic 7 12.1
29 epilepsy, progressive myoclonic, 9 12.0
30 epilepsy, progressive myoclonic, 6 11.9
31 spinal muscular atrophy 11.7
32 epileptic encephalopathy, early infantile, 16 11.7
33 ceroid lipofuscinosis, neuronal, 6 11.6
34 epilepsy, progressive myoclonic, 11 11.6
35 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.6
36 prickle1-related progressive myoclonus epilepsy with ataxia 11.6
37 dystonia 11, myoclonic 11.4
38 progressive myoclonus epilepsy 9 11.4
39 progressive myoclonus epilepsy 8 11.4
40 epilepsy progressive myoclonic type 3 11.4
41 gaucher disease, type iii 11.2
42 encephalopathy, familial, with neuroserpin inclusion bodies 11.2
43 spastic ataxia 5, autosomal recessive 11.2
44 epilepsy, progressive myoclonic, 10 11.2
45 muscular atrophy 10.6
46 ataxia and polyneuropathy, adult-onset 10.5
47 neuronal ceroid lipofuscinosis 10.5
48 autosomal recessive disease 10.5
49 gaucher's disease 10.4
50 tremor 10.4

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:

58 31 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 limb ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002070
2 eeg with polyspike wave complexes 58 31 hallmark (90%) Very frequent (99-80%) HP:0002392
3 morning myoclonic jerks 58 31 hallmark (90%) Very frequent (99-80%) HP:0007000
4 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
5 intention tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002080
6 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
7 cutaneous photosensitivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000992
8 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
9 ataxia 58 Frequent (79-30%)
10 myoclonus 58 Very frequent (99-80%)

UMLS symptoms related to Unverricht-Lundborg Syndrome:


ataxia, myoclonus

MGI Mouse Phenotypes related to Unverricht-Lundborg Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 CHRNA4 CLN3 CLN6 CSTB CTSB EFHC1
2 mortality/aging MP:0010768 9.77 CHRNA4 CLN3 CLN6 CTSB EPM2A GOSR2
3 nervous system MP:0003631 9.5 CHRNA4 CLN3 CLN6 CSTB CTSB EFHC1

Drugs & Therapeutics for Unverricht-Lundborg Syndrome

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

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Brivaracetam Approved, Investigational Phase 3 357336-20-0 9837243
2 Antibodies Phase 3
3 Rho(D) Immune Globulin Phase 3
4 Immunoglobulins, Intravenous Phase 3
5 Pharmaceutical Solutions Phase 3
6 Immunologic Factors Phase 3
7 gamma-Globulins Phase 3
8 Immunoglobulins Phase 3
9 Anticonvulsants Phase 3
10
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
11
Ropinirole Approved, Investigational Phase 2 91374-20-8, 91374-21-9 497540 5095
12 Dopamine Agents Phase 2
13 Neurotransmitter Agents Phase 2
14 Dopamine agonists Phase 2
15 Antiparkinson Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Intravenous Immunoglobulin for Unverricht-Lundborg Disease: Single-patient Trial. Unknown status NCT03351569 Phase 3 Intravenous immunoglobulin
2 A Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Study to Evaluate the Efficacy and Safety of Brivaracetam Used as Adjunctive Treatment for 12 Weeks in Adolescent and Adult Patients (≥ 16 Years) With Genetically Ascertained Unverricht-Lundborg Disease Completed NCT00368251 Phase 3 BRV 2.5 mg;BRV 25 mg;BRV 50 mg
3 A Multi-center, Randomized, Double-blind, Placebo-controlled, Parallel Study to Evaluate the Efficacy and Safety of Brivaracetam Used as Adjunctive Treatment for 12 Weeks in Adolescent and Adult Patients (≥16 Years) With Genetically Ascertained Unverricht-Lundborg Disease Completed NCT00357669 Phase 3 Brivaracetam 25 mg;Brivaracetam 50 mg
4 Effect of Ropinirole Hydrochloride in Progressive Myoclonic Epilepsy of Unverricht-Lundborg Type Unknown status NCT00639119 Phase 2 Ropinirole
5 Clinical, Molecular and Biochemical Characterization of Familial Encephalopathy With Neuroserpin 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:

40
Testes, Cortex, Brain, Bone, Cerebellum

Publications for Unverricht-Lundborg Syndrome

Articles related to Unverricht-Lundborg Syndrome:

(show top 50) (show all 199)
# Title Authors PMID Year
1
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. 24 6
18976727 2008
2
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. 24 6
15483648 2005
3
Univerricht-Lundborg disease: underdiagnosed in the Netherlands. 24 6
15329070 2004
4
Unverricht-Lundborg disease in a five-generation Arab family: instability of dodecamer repeats. 61 6
11571333 2001
5
Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient. 61 6
9342192 1997
6
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. 6 61
9054946 1997
7
Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations. 61 24
23205931 2012
8
Loss of cortical GABA terminals in Unverricht-Lundborg disease. 61 24
22538221 2012
9
Unverricht-Lundborg disease: homozygosity for a new splicing mutation in the cystatin B gene. 24 61
22154554 2012
10
Mutations in prickle orthologs cause seizures in flies, mice, and humans. 6
21276947 2011
11
Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene. 24 61
21757863 2011
12
Stefin B interacts with histones and cathepsin L in the nucleus. 24 61
20075068 2010
13
PRICKLE1-Related Progressive Myoclonus Epilepsy with Ataxia 6
20301774 2009
14
Altered cortical inhibition in Unverricht-Lundborg type progressive myoclonus epilepsy (EPM1). 24 61
19321308 2009
15
Cystatin B deficiency sensitizes neurons to oxidative stress in progressive myoclonus epilepsy, EPM1. 61 24
19420257 2009
16
Clinical picture of EPM1-Unverricht-Lundborg disease. 61 24
18325013 2008
17
A pathogenetic hypothesis of Unverricht-Lundborg disease onset and progression. 61 24
17188503 2007
18
Unverricht-Lundborg disease, a condition with self-limited progression: long-term follow-up of 20 patients. 24 61
16686650 2006
19
Progressive Myoclonic Epilepsy Type 1 6
20301321 2004
20
Neuropathological changes in a mouse model of progressive myoclonus epilepsy: cystatin B deficiency and Unverricht-Lundborg disease. 61 24
12484571 2002
21
N-acetylcysteine and Unverricht-Lundborg disease: variable response and possible side effects. 61 24
12427904 2002
22
Unverricht-Lundborg disease with cystatin B gene abnormalities. 61 24
11814737 2002
23
Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. 24 61
9806543 1998
24
Piracetam relieves symptoms in progressive myoclonus epilepsy: a multicentre, randomised, double blind, crossover study comparing the efficacy and safety of three dosages of oral piracetam with placebo. 61 24
9527146 1998
25
What is expanded in progressive myoclonus epilepsy? 6
9288090 1997
26
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. 6
9090386 1997
27
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). 6
9012407 1997
28
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) 6
8596935 1996
29
Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxy-L-tryptophan. 6
7543407 1995
30
Abnormal microglial activation in the Cstb(-/-) mouse, a model for progressive myoclonus epilepsy, EPM1. 24
25327891 2015
31
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 24
25401298 2015
32
Gene expression alterations in the cerebellum and granule neurons of Cstb(-/-) mouse are associated with early synaptic changes and inflammation. 24
24586687 2014
33
'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation. 24
23449775 2013
34
Early microglial activation precedes neuronal loss in the brain of the Cstb-/- mouse model of progressive myoclonus epilepsy, EPM1. 24
22157618 2012
35
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia. 24
21549339 2011
36
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. 24
18308289 2008
37
Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients. 24
17003839 2007
38
Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. 24
15778103 2005
39
Treatment of myoclonic epilepsies of childhood, adolescence, and adulthood. 24
15508934 2005
40
Reduced cystatin B activity correlates with enhanced cathepsin activity in progressive myoclonus epilepsy. 24
12452481 2002
41
Effects of vagus nerve stimulation on progressive myoclonus epilepsy of Unverricht-Lundborg type. 24
10961635 2000
42
"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin. 24
6137660 1983
43
Distortion of the cortical motor map in patients with Unverricht-Lundborg disease: A combined TMS-MRI study. 61
31954920 2020
44
Upregulation of Mitochondrial Redox Sensitive Proteins in LPS-Treated Stefin B-Deficient Macrophages. 61
31766320 2019
45
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. 61
31476531 2019
46
Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease. 61
31368437 2019
47
Late diagnosis of hypophosphatasia in a case with Unverricht-Lundborg disease. 61
31088113 2019
48
Unverricht-Lundborg disease: Clinical course and seizure management based on the experience of polish centers. 61
30999254 2019
49
Autistic features in Unverricht-Lundborg disease. 61
31463470 2019
50
[Low-dose perampanel improved cortical myoclonus and basophobia in a patient with Unverricht-Lundborg disease: a case report]. 61
30270337 2018

Variations for Unverricht-Lundborg Syndrome

ClinVar genetic disease variations for Unverricht-Lundborg Syndrome:

6 (show all 42) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CSTB NM_000100.3(CSTB):c.202C>T (p.Arg68Ter)SNV Pathogenic 8396 rs74315442 21:45194178-45194178 21:43774297-43774297
2 CSTB NM_000100.3(CSTB):c.10G>C (p.Gly4Arg)SNV Pathogenic 8397 rs74315443 21:45196141-45196141 21:43776260-43776260
3 CSTB NM_000100.3(CSTB):c.-210CCCCGCCCCGCG(2_3)NT expansion Pathogenic 8398 21:45196360-45196371 21:43776479-43776490
4 CSTB CSTB, 2-BP DEL, 2404TCdeletion Pathogenic 8399
5 CSTB NM_000100.3(CSTB):c.212A>C (p.Gln71Pro)SNV Pathogenic 8400 rs121909346 21:45194168-45194168 21:43774287-43774287
6 CSTB NM_000100.3(CSTB):c.-210_-199(30_125)NT expansion Pathogenic 55956 21:45196349-45196360 21:43776468-43776479
7 CSTB NM_000100.4(CSTB):c.168+2_168+21delinsAAindel Pathogenic 161421 rs864309482 21:45194518-45194537 21:43774637-43774656
8 CSTB NM_000100.3(CSTB):c.168+2_168+19deldeletion Pathogenic 161420 rs312262707 21:45194520-45194537 21:43774639-43774656
9 CSTB NM_000100.3(CSTB):c.149G>A (p.Gly50Glu)SNV Pathogenic 161419 rs312262708 21:45194558-45194558 21:43774677-43774677
10 CSTB NM_000100.3(CSTB):c.136C>T (p.Gln46Ter)SNV Pathogenic 161418 rs545986367 21:45194571-45194571 21:43774690-43774690
11 CSTB NM_000100.3(CSTB):c.125C>A (p.Ser42Ter)SNV Pathogenic/Likely pathogenic 55957 rs386833439 21:45194582-45194582 21:43774701-43774701
12 CSTB NM_000100.3(CSTB):c.168G>A (p.Lys56=)SNV Pathogenic/Likely pathogenic 55958 rs386833440 21:45194539-45194539 21:43774658-43774658
13 CSTB NM_000100.3(CSTB):c.169-2A>GSNV Pathogenic/Likely pathogenic 55959 rs386833441 21:45194213-45194213 21:43774332-43774332
14 CSTB NM_000100.4(CSTB):c.214_215TC[2] (p.Leu73fs)short repeat Pathogenic/Likely pathogenic 55960 rs796943858 21:45194161-45194162 21:43774280-43774281
15 CSTB NM_000100.3(CSTB):c.66G>A (p.Gln22=)SNV Pathogenic/Likely pathogenic 55961 rs386833443 21:45196085-45196085 21:43776204-43776204
16 CSTB NM_000100.3(CSTB):c.67-1G>CSNV Pathogenic/Likely pathogenic 8395 rs147484110 21:45194641-45194641 21:43774760-43774760
17 CSTB NM_000100.3(CSTB):c.10G>T (p.Gly4Trp)SNV Likely pathogenic 431700 rs74315443 21:45196141-45196141 21:43776260-43776260
18 CSTB NM_000100.3(CSTB):c.-12G>ASNV Conflicting interpretations of pathogenicity 510088 rs779920568 21:45196162-45196162 21:43776281-43776281
19 CSTB NM_000100.3(CSTB):c.45G>A (p.Glu15=)SNV Conflicting interpretations of pathogenicity 382295 rs1057521317 21:45196106-45196106 21:43776225-43776225
20 CSTB NM_000100.3(CSTB):c.-42C>TSNV Conflicting interpretations of pathogenicity 340122 rs776181852 21:45196192-45196192 21:43776311-43776311
21 CSTB NM_000100.3(CSTB):c.121G>A (p.Val41Met)SNV Conflicting interpretations of pathogenicity 195015 rs143153487 21:45194586-45194586 21:43774705-43774705
22 CSTB NM_000100.3(CSTB):c.193G>A (p.Val65Ile)SNV Conflicting interpretations of pathogenicity 205323 rs570768038 21:45194187-45194187 21:43774306-43774306
23 CSTB NM_000100.3(CSTB):c.*435G>ASNV Uncertain significance 340114 rs149039598 21:45193648-45193648 21:43773767-43773767
24 CSTB NM_000100.3(CSTB):c.*355C>GSNV Uncertain significance 340115 rs143062585 21:45193728-45193728 21:43773847-43773847
25 CSTB NM_000100.3(CSTB):c.-55G>ASNV Uncertain significance 340125 rs533879406 21:45196205-45196205 21:43776324-43776324
26 CSTB NM_000100.3(CSTB):c.169-14C>TSNV Uncertain significance 340121 rs757593576 21:45194225-45194225 21:43774344-43774344
27 CSTB NM_000100.3(CSTB):c.-43C>GSNV Uncertain significance 340123 rs886057113 21:45196193-45196193 21:43776312-43776312
28 CSTB NC_000021.9:g.43773868C>TSNV Uncertain significance 896110 21:45193749-45193749 21:43773868-43773868
29 CSTB NC_000021.9:g.43773883C>TSNV Uncertain significance 897699 21:45193764-45193764 21:43773883-43773883
30 CSTB NC_000021.9:g.43773915C>TSNV Uncertain significance 897700 21:45193796-45193796 21:43773915-43773915
31 CSTB NM_000100.4(CSTB):c.*209A>TSNV Uncertain significance 897701 21:45193874-45193874 21:43773993-43773993
32 CSTB NM_000100.4(CSTB):c.169G>T (p.Val57Leu)SNV Uncertain significance 898861 21:45194211-45194211 21:43774330-43774330
33 CSTB NM_000100.4(CSTB):c.9C>T (p.Cys3=)SNV Uncertain significance 895890 21:45196142-45196142 21:43776261-43776261
34 CSTB NM_000100.3(CSTB):c.*301G>ASNV Uncertain significance 340117 rs886057111 21:45193782-45193782 21:43773901-43773901
35 CSTB NM_000100.3(CSTB):c.*227A>GSNV Uncertain significance 340118 rs886057112 21:45193856-45193856 21:43773975-43773975
36 CSTB NM_000100.4(CSTB):c.*93A>GSNV Likely benign 897702 21:45193990-45193990 21:43774109-43774109
37 CSTB NM_000100.3(CSTB):c.*69A>GSNV Likely benign 340120 rs142767585 21:45194014-45194014 21:43774133-43774133
38 CSTB NM_000100.3(CSTB):c.15G>T (p.Ala5=)SNV Benign/Likely benign 128858 rs4533 21:45196136-45196136 21:43776255-43776255
39 CSTB NM_000100.3(CSTB):c.67-3T>CSNV Benign/Likely benign 137037 rs6383 21:45194643-45194643 21:43774762-43774762
40 CSTB NM_000100.3(CSTB):c.*325A>GSNV Benign 340116 rs28691645 21:45193758-45193758 21:43773877-43773877
41 CSTB NM_000100.3(CSTB):c.-54C>TSNV Benign 340124 rs59649299 21:45196204-45196204 21:43776323-43776323
42 CSTB NM_000100.3(CSTB):c.*74T>CSNV Benign 340119 rs6385 21:45194009-45194009 21:43774128-43774128

Expression for Unverricht-Lundborg Syndrome

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

Pathways for Unverricht-Lundborg Syndrome

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

# Super pathways Score Top Affiliating Genes
1 10.91 SCARB2 CTSB CLN3

GO Terms for Unverricht-Lundborg Syndrome

Cellular components related to Unverricht-Lundborg Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 late endosome membrane GO:0031902 9.33 SCARB2 GOSR2 CLN3
2 ficolin-1-rich granule lumen GO:1904813 9.13 PFKL CTSB CSTB
3 node of Ranvier GO:0033268 8.62 SCN1B KCNQ3

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of proteolysis GO:0045861 9.48 CSTB CLN3
2 regulation of protein kinase activity GO:0045859 9.46 NHLRC1 EPM2A
3 membrane depolarization GO:0051899 9.43 SCN1B CHRNA4
4 glycogen biosynthetic process GO:0005978 9.4 NHLRC1 EPM2A
5 action potential GO:0001508 9.37 CLN3 CHRNA4
6 regulation of protein ubiquitination GO:0031396 9.32 NHLRC1 EPM2A
7 membrane hyperpolarization GO:0060081 9.26 KCTD7 KCNQ3
8 lysosomal lumen acidification GO:0007042 9.16 CLN6 CLN3
9 cellular macromolecule metabolic process GO:0044260 8.96 NHLRC1 EPM2A
10 regulation of protein localization to plasma membrane GO:1903076 8.8 NHLRC1 EPM2A CLN3

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 SCN1B SCARB2 PUS7L PRICKLE1 PRDM8 PFKL
2 sulfatide binding GO:0120146 8.62 CLN6 CLN3

Sources for Unverricht-Lundborg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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