PME
MCID: UNV001
MIFTS: 53

Unverricht-Lundborg Syndrome (PME)

Categories: Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Unverricht-Lundborg Syndrome

MalaCards integrated aliases for Unverricht-Lundborg Syndrome:

Name: Unverricht-Lundborg Syndrome 12 43 29 6 44 15 71
Unverricht-Lundborg Disease 12 74 20 43 58 36
Myoclonic Epilepsy of Unverricht and Lundborg 20 43
Epm1 20 43
Uld 43 58
Myoclonus Progressive Epilepsy of Unverricht and Lundborg 20
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy 20
Epilepsy, Progressive Myoclonic Type 1 20
Progressive Myoclonic Epilepsy Type 1 58
Progressive Myoclonus Epilepsy Type 1 58
Epilepsy, Progressive Myoclonus 1 20
Myoclonic Epilepsies, Progressive 71
Mediterranean Myoclonic Epilepsy 43
Progressive Myoclonus Epilepsy 1 43
Progressive Myoclonic Epilepsy 43
Unverricht - Lundborg Disease 12
Lundborg-Unverricht Syndrome 43
Baltic Myoclonic Epilepsy 43
Baltic Myoclonus Epilepsy 43
Unverricht's Disease 12
Baltic Myoclonus 43
Pme Type 1 58
Pme 43

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 44 D020194
SNOMED-CT 67 192847001
MESH via Orphanet 45 D020194
ICD10 via Orphanet 33 G40.3
UMLS via Orphanet 72 C0751785
Orphanet 58 ORPHA308
UMLS 71 C0751778 C0751785

Summaries for Unverricht-Lundborg Syndrome

MedlinePlus Genetics : 43 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 prickle1-related progressive myoclonus epilepsy with ataxia and progressive myoclonus epilepsy 1b, 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 Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include cortex, 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.

GARD : 20 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...

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 198)
# Related Disease Score Top Affiliating Genes
1 prickle1-related progressive myoclonus epilepsy with ataxia 32.7 TBC1D24 PRICKLE1
2 progressive myoclonus epilepsy 1b 32.5 PUS7L PRICKLE1
3 progressive myoclonus epilepsy 6 32.5 GOSR2 EPM2A
4 progressive myoclonus epilepsy 7 32.5 KCNC1 CSTB
5 progressive myoclonus epilepsy 4 32.3 SCARB2 PRICKLE1 CSTB
6 myoclonic epilepsy of unverricht and lundborg 32.3 TBC1D24 SCARB2 PRICKLE1 LOC109029533 GOSR2 FBXO30-DT
7 progressive myoclonus epilepsy 32.1 TBC1D24 SCARB2 PRICKLE1 NHLRC1 LOC109029533 KCNC1
8 epilepsy, progressive myoclonic, 1b 30.9 TBC1D24 PRICKLE1
9 dentatorubral-pallidoluysian atrophy 30.9 SCARB2 GOSR2 FBXO30-DT EPM2A CSTB AGPAT3
10 glycoproteinosis 30.8 NHLRC1 CSTB CLN3
11 myoclonus epilepsy 30.8 PRICKLE1 NHLRC1 LOC109029533 EPM2A CSTB
12 early myoclonic encephalopathy 30.6 TBC1D24 SV2A SCARB2 NHLRC1 KCNQ3 GOSR2
13 myoclonus 30.5 SCARB2 PRICKLE1 NHLRC1 LOC109029533 KCNC1 GOSR2
14 progressive myoclonus epilepsy, lafora type 30.5 NHLRC1 EPM2A
15 photosensitive epilepsy 30.5 SV2A NHLRC1 KCNQ3 EFHC1
16 lennox-gastaut syndrome 30.4 SV2A KCNQ3 CHRNA4
17 epilepsy, idiopathic generalized 30.4 SV2A KCNQ3 EFHC1 CHRNA4
18 myoclonic epilepsy of lafora 30.3 NHLRC1 EPM2A CSTB CLN3
19 epilepsy 30.3 TBC1D24 SV2A SCARB2 PRICKLE1 NHLRC1 LOC109029533
20 epilepsy, myoclonic juvenile 30.3 SV2A NHLRC1 KCNQ3 EPM2A EFHC1 CSTB
21 spinal muscular atrophy with progressive myoclonic epilepsy 12.0
22 epilepsy, progressive myoclonic, 3, with or without intracellular inclusions 11.7
23 epilepsy, progressive myoclonic 7 11.6
24 epilepsy, progressive myoclonic, 8 11.6
25 epilepsy, progressive myoclonic, 9 11.5
26 epilepsy, progressive myoclonic, 6 11.5
27 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.4
28 spinal muscular atrophy 11.3
29 progressive myoclonus epilepsy 1a 11.3
30 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.3
31 epilepsy, progressive myoclonic, 11 11.3
32 dystonia 11, myoclonic 11.3
33 epilepsy, progressive myoclonic, 10 11.2
34 epilepsy, progressive myoclonic, 12 11.2
35 developmental and epileptic encephalopathy 16 11.2
36 epilepsy progressive myoclonic type 3 11.2
37 progressive myoclonus epilepsy 3 11.2
38 progressive myoclonus epilepsy 9 11.2
39 progressive myoclonus epilepsy 8 11.2
40 progressive myoclonic epilepsy with neuroserpin inclusion bodies 11.2
41 ceroid lipofuscinosis, neuronal, 6 11.1
42 gaucher disease, type iii 11.1
43 encephalopathy, familial, with neuroserpin inclusion bodies 11.1
44 spastic ataxia 5, autosomal recessive 11.1
45 muscular atrophy 10.6
46 neuronal ceroid lipofuscinosis 10.5
47 progressive myoclonus epilepsy 10 10.4 NHLRC1 EPM2A
48 gaucher's disease 10.4
49 early onset absence epilepsy 10.4 KCNQ3 EFHC1 CHRNA4
50 febrile seizures, familial, 1 10.4 KCNQ3 EFHC1 CHRNA4

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 CHRNA4 CLN3 CSTB CTSB EFHC1 EPM2A
2 mortality/aging MP:0010768 9.77 AGPAT3 CHRNA4 CLN3 CTSB EPM2A GOSR2
3 nervous system MP:0003631 9.47 AGPAT3 CHRNA4 CLN3 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 Pharmaceutical Solutions Phase 3
3 Immunologic Factors Phase 3
4 Immunoglobulins Phase 3
5 gamma-Globulins Phase 3
6 Immunoglobulins, Intravenous Phase 3
7 Antibodies Phase 3
8 Rho(D) Immune Globulin 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 5095 497540
12 Dopamine agonists Phase 2
13 Dopamine Agents Phase 2
14 Neurotransmitter Agents 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

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
Cortex

Publications for Unverricht-Lundborg Syndrome

Articles related to Unverricht-Lundborg Syndrome:

(show top 50) (show all 188)
# Title Authors PMID Year
1
Unverricht-Lundborg disease in a five-generation Arab family: instability of dodecamer repeats. 61 6
11571333 2001
2
Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient. 6 61
9342192 1997
3
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. 61 6
9054946 1997
4
Mutations in prickle orthologs cause seizures in flies, mice, and humans. 6
21276947 2011
5
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. 6
18976727 2008
6
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. 6
15483648 2005
7
Univerricht-Lundborg disease: underdiagnosed in the Netherlands. 6
15329070 2004
8
What is expanded in progressive myoclonus epilepsy? 6
9288090 1997
9
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. 6
9090386 1997
10
Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). 6
9012407 1997
11
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) 6
8596935 1996
12
Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxy-L-tryptophan. 6
7543407 1995
13
Safety, tolerability, and efficacy of brivaracetam as adjunctive therapy in patients with focal seizures, generalized onset seizures, or Unverricht-Lundborg disease: An open-label, long-term follow-up trial. 61
33461041 2021
14
[A case of the successful treatment of severe myoclonus with Lance-Adams syndrome by add-on perampanel showing long term effects]. 61
33328418 2021
15
Unverricht-Lundborg disease (EPM1) in Finland: A nationwide population-based study. 61
32943486 2020
16
Genetic testing and the phenotype of Polish patients with Unverricht-Lundborg disease (EPM1) - A cohort study. 61
32920378 2020
17
Distortion of the cortical motor map in patients with Unverricht-Lundborg disease: A combined TMS-MRI study. 61
31954920 2020
18
Upregulation of Mitochondrial Redox Sensitive Proteins in LPS-Treated Stefin B-Deficient Macrophages. 61
31766320 2019
19
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. 61
31476531 2019
20
Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease. 61
31368437 2019
21
Unverricht-Lundborg disease: Clinical course and seizure management based on the experience of polish centers. 61
30999254 2019
22
Late diagnosis of hypophosphatasia in a case with Unverricht-Lundborg disease. 61
31088113 2019
23
Autistic features in Unverricht-Lundborg disease. 61
31463470 2019
24
[Low-dose perampanel improved cortical myoclonus and basophobia in a patient with Unverricht-Lundborg disease: a case report]. 61
30270337 2018
25
Correction of a Splicing Mutation Affecting an Unverricht-Lundborg Disease Patient by Antisense Therapy. 61
30208654 2018
26
First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea. 61
29978618 2018
27
Abnormal motor cortical adaptation to external stimulus in Unverricht-Lundborg disease (progressive myoclonus type 1, EPM1). 61
29742025 2018
28
A clinical and neurophysiological motor signature of Unverricht-Lundborg disease. 61
28688606 2018
29
Variable course of Unverricht-Lundborg disease: Early prognostic factors. 61
28931642 2017
30
A Native Haitian Woman with Unverricht-Lundborg Disease. 61
29422850 2017
31
Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. 61
28378817 2017
32
Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties. 61
28380698 2017
33
Cerebellar Involvement in Patients with Mild to Moderate Myoclonus Due to EPM1: Structural and Functional MRI Findings in Comparison with Healthy Controls and Ataxic Patients. 61
27785699 2017
34
Perampanel in 12 patients with Unverricht-Lundborg disease. 61
28166365 2017
35
A novel c132-134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients. 61
27888502 2017
36
The network sustaining action myoclonus: a MEG-EMG study in patients with EPM1. 61
27821136 2016
37
Unverricht-Lundborg disease. 61
27582036 2016
38
Long-term evolution of EEG in Unverricht-Lundborg disease. 61
27157382 2016
39
Brivaracetam in Unverricht-Lundborg disease (EPM1): Results from two randomized, double-blind, placebo-controlled studies. 61
26666500 2016
40
Characterization of a rare Unverricht-Lundborg disease mutation. 61
26937413 2015
41
Limited Proteolysis Reveals That Amyloids from the 3D Domain-Swapping Cystatin B Have a Non-Native β-Sheet Topology. 61
26004542 2015
42
Progressive Myoclonus Epilepsies. 61
26060909 2015
43
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. 61
25752200 2015
44
Refining the phenotype of Unverricht-Lundborg disease (EPM1): a population-wide Finnish study. 61
25770194 2015
45
Reduced cortical activation in inferior frontal junction in Unverricht-Lundborg disease (EPM1) - A motor fMRI study. 61
25769376 2015
46
The Role of Stefin B in Neuro-inflammation. 61
26696823 2015
47
Innate Immune Response in Brain, NF-Kappa B Signaling and Cystatins. 61
26696821 2015
48
A role for stefin B (cystatin B) in inflammation and endotoxemia. 61
25288807 2014
49
Long-term follow-up of cortical hyperexcitability in Japanese Unverricht-Lundborg disease. 61
25023721 2014
50
EEG-EMG information flow in movement-activated myoclonus in patients with Unverricht-Lundborg disease. 61
24508192 2014

Variations for Unverricht-Lundborg Syndrome

ClinVar genetic disease variations for Unverricht-Lundborg Syndrome:

6 (show top 50) (show all 760)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRICKLE1 NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) SNV Pathogenic 30729 rs281865563 12:42862585-42862585 12:42468783-42468783
2 PRICKLE1 NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His) SNV Pathogenic 30730 rs281865564 12:42858422-42858422 12:42464620-42464620
3 EPM2A NC_000006.12:g.(?_145686102)_(145686316_?)del Deletion Pathogenic 462911 6:145686102-145686316
4 EPM2A NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) SNV Pathogenic 381553 rs781291421 6:145956604-145956604 6:145635468-145635468
5 FBXO30-DT NC_000006.12:g.(?_145625675)_(145735518_?)del Deletion Pathogenic 654665 6:145946811-146056654 6:145625675-145735518
6 EPM2A NM_005670.4(EPM2A):c.835G>T (p.Gly279Cys) SNV Pathogenic 834981 6:145948713-145948713 6:145627577-145627577
7 CSTB NM_000100.3(CSTB):c.200_203dup (p.Val69fs) Duplication Pathogenic 659184 rs1601855887 21:45194176-45194177 21:43774295-43774296
8 GOSR2 NM_004287.5(GOSR2):c.184A>T (p.Lys62Ter) SNV Pathogenic 659698 rs1380954046 17:45008554-45008554 17:46931188-46931188
9 CSTB NM_000100.3(CSTB):c.64C>T (p.Gln22Ter) SNV Pathogenic 575156 rs1569006250 21:45196087-45196087 21:43776206-43776206
10 SCARB2 NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) SNV Pathogenic 206709 rs200053119 4:77102169-77102169 4:76181016-76181016
11 AGPAT3 NC_000021.8:g.(?_44838120)_(45629566_?)del Deletion Pathogenic 830406 21:44838120-45629566
12 EPM2A NC_000006.12:g.(?_145625675)_(145635506_?)del Deletion Pathogenic 830902 6:145946811-145956642
13 GOSR2 NC_000017.11:g.(?_46923173)_(46940633_?)del Deletion Pathogenic 831185 17:45000539-45017999
14 EPM2A NM_005670.4(EPM2A):c.74C>A (p.Ser25Ter) SNV Pathogenic 862225 6:146056561-146056561 6:145735425-145735425
15 GOSR2 NM_004287.5(GOSR2):c.262del (p.Gln88fs) Deletion Pathogenic 859319 17:45009490-45009490 17:46932124-46932124
16 SCARB2 NM_005506.4(SCARB2):c.1002dup (p.Ile335fs) Duplication Pathogenic 938927 4:77091130-77091131 4:76169977-76169978
17 SCARB2 NM_005506.4(SCARB2):c.432_433AG[3] (p.Trp146fs) Microsatellite Pathogenic 7377 rs727502773 4:77100846-77100847 4:76179693-76179694
18 EPM2A NM_005670.4(EPM2A):c.118del (p.Arg39_Leu40insTer) Deletion Pathogenic 956069 6:146056517-146056517 6:145735381-145735381
19 SCARB2 NM_005506.4(SCARB2):c.956del (p.Leu319fs) Deletion Pathogenic 971806 4:77095335-77095335 4:76174182-76174182
20 CSTB NM_000100.3(CSTB):c.67-1G>C SNV Pathogenic 8395 rs147484110 21:45194641-45194641 21:43774760-43774760
21 CSTB NM_000100.3(CSTB):c.10G>C (p.Gly4Arg) SNV Pathogenic 8397 rs74315443 21:45196141-45196141 21:43776260-43776260
22 LOC109029533 NM_000100.3(CSTB):c.-210CCCCGCCCCGCG[(2_3)] Microsatellite Pathogenic 8398 21:45196360-45196371 21:43776479-43776490
23 CSTB CSTB, 2-BP DEL, 2404TC Deletion Pathogenic 8399
24 CSTB NM_000100.3(CSTB):c.212A>C (p.Gln71Pro) SNV Pathogenic 8400 rs121909346 21:45194168-45194168 21:43774287-43774287
25 CSTB NG_011545.1(CSTB):g.4900_4935CCCCGCCCCGCG[(30_125)] Microsatellite Pathogenic 55956 21:45196349-45196360 21:43776468-43776479
26 EPM2A NM_005670.4(EPM2A):c.363_364dup (p.Tyr122fs) Microsatellite Pathogenic 954222 6:146007369-146007370 6:145686233-145686234
27 CSTB NM_000100.3(CSTB):c.149G>A (p.Gly50Glu) SNV Pathogenic 161419 rs312262708 21:45194558-45194558 21:43774677-43774677
28 CSTB NM_000100.4(CSTB):c.168+2_168+21delinsAA Indel Pathogenic 161421 rs864309482 21:45194518-45194537 21:43774637-43774656
29 CSTB NM_000100.3(CSTB):c.168+2_168+19del Deletion Pathogenic 161420 rs312262707 21:45194520-45194537 21:43774639-43774656
30 CSTB NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) SNV Pathogenic 161418 rs545986367 21:45194571-45194571 21:43774690-43774690
31 CSTB NM_000100.3(CSTB):c.67-1G>C SNV Pathogenic 8395 rs147484110 21:45194641-45194641 21:43774760-43774760
32 CSTB NM_000100.4(CSTB):c.214_215TC[2] (p.Leu73fs) Microsatellite Pathogenic 55960 rs796943858 21:45194161-45194162 21:43774280-43774281
33 CSTB NM_000100.3(CSTB):c.202C>T (p.Arg68Ter) SNV Pathogenic 8396 rs74315442 21:45194178-45194178 21:43774297-43774297
34 TBC1D24 NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) SNV Pathogenic 183157 rs765965968 16:2548334-2548334 16:2498333-2498333
35 CSTB NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) SNV Pathogenic 161418 rs545986367 21:45194571-45194571 21:43774690-43774690
36 EPM2A NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) SNV Pathogenic 462933 rs1387516050 6:145948803-145948803 6:145627667-145627667
37 GOSR2 NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) SNV Pathogenic 30406 rs387906881 17:45012488-45012488 17:46935122-46935122
38 EPM2A NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) SNV Pathogenic 3098 rs104893950 6:145948827-145948827 6:145627691-145627691
39 GOSR2 NM_004287.4(GOSR2):c.336+1G>A SNV Pathogenic 211092 rs141554661 17:45009566-45009566 17:46932200-46932200
40 CSTB NM_000100.3(CSTB):c.125C>A (p.Ser42Ter) SNV Pathogenic/Likely pathogenic 55957 rs386833439 21:45194582-45194582 21:43774701-43774701
41 CSTB NM_000100.3(CSTB):c.168G>A (p.Lys56=) SNV Pathogenic/Likely pathogenic 55958 rs386833440 21:45194539-45194539 21:43774658-43774658
42 CSTB NM_000100.3(CSTB):c.169-2A>G SNV Pathogenic/Likely pathogenic 55959 rs386833441 21:45194213-45194213 21:43774332-43774332
43 CSTB NM_000100.3(CSTB):c.66G>A (p.Gln22=) SNV Pathogenic/Likely pathogenic 55961 rs386833443 21:45196085-45196085 21:43776204-43776204
44 PRICKLE1 NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) SNV Pathogenic/Likely pathogenic 2283 rs113994140 12:42863325-42863325 12:42469523-42469523
45 PRICKLE1 Deletion Likely pathogenic 243056 12:42870202-42899456 12:42476400-42505654
46 PRICKLE1 NM_153026.3(PRICKLE1):c.128A>G (p.Glu43Gly) SNV Likely pathogenic 982781 12:42866191-42866191 12:42472389-42472389
47 GOSR2 NM_004287.4(GOSR2):c.337-2A>G SNV Likely pathogenic 578675 rs1568177307 17:45012393-45012393 17:46935027-46935027
48 CSTB NM_000100.4(CSTB):c.214_215TC[2] (p.Leu73fs) Microsatellite Likely pathogenic 55960 rs796943858 21:45194161-45194162 21:43774280-43774281
49 SCARB2 NM_005506.4(SCARB2):c.424-1G>A SNV Likely pathogenic 951742 4:77100859-77100859 4:76179706-76179706
50 CSTB NM_000100.3(CSTB):c.10G>T (p.Gly4Trp) SNV Likely pathogenic 431700 rs74315443 21:45196141-45196141 21:43776260-43776260

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 synapse GO:0045202 9.1 TBC1D24 SV2A KCNQ3 KCNC1 CLN3 CHRNA4

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

# Name GO ID Score Top Affiliating Genes
1 regulation of protein kinase activity GO:0045859 9.4 NHLRC1 EPM2A
2 glycogen biosynthetic process GO:0005978 9.37 NHLRC1 EPM2A
3 negative regulation of proteolysis GO:0045861 9.33 CSTB CST4 CLN3
4 regulation of protein ubiquitination GO:0031396 9.32 NHLRC1 EPM2A
5 action potential GO:0001508 9.26 CLN3 CHRNA4
6 cellular macromolecule metabolic process GO:0044260 8.96 NHLRC1 EPM2A
7 regulation of protein localization to plasma membrane GO:1903076 8.8 NHLRC1 EPM2A CLN3

Sources for Unverricht-Lundborg Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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