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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Myoclonic Epilepsies, Progressive (D020191)
..Starting node ..Unverricht-Lundborg Syndrome (D020194)
Child Nodes:
Sister Nodes:
..Amyotrophic Lateral Sclerosis With Polyglucosan Bodies (C565955)
..Epilepsy, Progressive Myoclonic 2B (C564976)
..Epilepsy, Progressive Myoclonic 3 (C567095)
..Epilepsy, Progressive Myoclonic, 1b (C567315)
..EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
..Lafora Disease (D020192)
..MERRF Syndrome (D017243)
..Myoclonic epilepsy with choreoathetosis (C538427)
..Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia (C580388)
..Unverricht-Lundborg Syndrome (D020194)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11382

Name:

Unverricht-Lundborg Syndrome

Definition:

An autosomal recessive condition characterized by recurrent myoclonic and generalized seizures, ATAXIA, slowly progressive intellectual deterioration, dysarthria, and intention tremor. Myoclonic seizures are severe and continuous, and tend to be triggered by movement, stress, and sensory stimuli. The age of onset is between 8 and 13 years, and the condition is relatively frequent in the Baltic region, especially Finland. (From Menkes, Textbook of Child Neurology, 5th ed, pp109-110)

Alternative IDs:

OMIM:254800

ParentIDs:

MESH:D020191|MESH:D020271

TreeNumbers:

C10.228.140.490.250.650.900 |C10.574.500.875 |C16.320.400.940

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D020194
MeSH: D020194
OMIM: 254800;

Genes: CSTB;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001251	Ataxia
3	HP:0002069	Bilateral tonic-clonic seizure
4	HP:0001260	Dysarthria
5	HP:0002121	Generalized non-motor (absence) seizure
6	HP:0001268	Mental deterioration
7	HP:0001336	Myoclonus

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000100.3(CSTB):c.218_219delTC (p.Leu73Profs)	1476	CSTB	Likely pathogenic;Pathogenic	796943858	RCV000049369;	N	MedGen:C0751785,OMIM:254800,ORPHA:308,SNOMED CT:230423006	21	45194161	45194162	NM_000100.3:c.218_219delTC	NP_000091.1:p.Leu73Profs	NC_000021.8:g.45194161_45194162delGA	-	C0751785 254800 Unverricht-Lundborg syndrome
NM_000100.3(CSTB):c.212A>C (p.Gln71Pro)	1476	CSTB	Pathogenic	121909346	RCV000008908;	N	MedGen:C0751785,OMIM:254800,ORPHA:308,SNOMED CT:230423006	21	45194168	45194168	NM_000100.3:c.212A>C	NP_000091.1:p.Gln71Pro	NC_000021.8:g.45194168T>G	OMIM Allelic Variant:601145.0006	C0751785 254800 Unverricht-Lundborg syndrome
NM_000100.3(CSTB):c.202C>T (p.Arg68Ter)	1476	CSTB	Pathogenic	74315442	RCV000008904; RCV000187286;	N	MedGen:C0751785,OMIM:254800,ORPHA:308,SNOMED CT:230423006; MedGen:CN221809	21	45194178	45194178	NM_000100.3:c.202C>T	NP_000091.1:p.Arg68Ter	NC_000021.8:g.45194178G>A	OMIM Allelic Variant:601145.0002	CN221809 not provided; C0751785 254800 Unverricht-Lundborg syndrome
NM_000100.3(CSTB):c.169-2A>G	1476	CSTB	Likely pathogenic;Pathogenic	386833441	RCV000049368;	N	MedGen:C0751785,OMIM:254800,ORPHA:308,SNOMED CT:230423006	21	45194213	45194213	NM_000100.3:c.169-2A>G		NC_000021.8:g.45194213T>C	-	C0751785 254800 Unverricht-Lundborg syndrome
NM_000100.3(CSTB):c.168+2_168+21delinsAA	1476	CSTB	Pathogenic	864309482	RCV000202486;	N	MedGen:C0751785,OMIM:254800,ORPHA:308,SNOMED CT:230423006	21	45194518	45194537	NM_000100.3:c.168+2_168+21delinsAA		NC_000021.8:g.45194518_45194537del20insTT	-	C0751785 254800 Unverricht-Lundborg syndrome
NM_000100.3(CSTB):c.168+1_168+18del	1476	CSTB	Pathogenic	312262707	RCV000202562;	N	MedGen:C0751785,OMIM:254800,ORPHA:308,SNOMED CT:230423006	21	45194521	45194538	NM_000100.3:c.168+1_168+18del		NC_000021.8:g.45194521_45194538del18	-	C0751785 254800 Unverricht-Lundborg syndrome
NM_000100.3(CSTB):c.168G>A (p.Lys56=)	1476	CSTB	Likely pathogenic;Pathogenic	386833440	RCV000049367;	N	MedGen:C0751785,OMIM:254800,ORPHA:308,SNOMED CT:230423006	21	45194539	45194539	NM_000100.3:c.168G>A	NP_000091.1:p.Lys56=	NC_000021.8:g.45194539C>T	-	C0751785 254800 Unverricht-Lundborg syndrome
NM_000100.3(CSTB):c.149G>A (p.Gly50Glu)	1476	CSTB	Pathogenic	312262708	RCV000202469;	N	MedGen:C0751785,OMIM:254800,ORPHA:308,SNOMED CT:230423006	21	45194558	45194558	NM_000100.3:c.149G>A	NP_000091.1:p.Gly50Glu	NC_000021.8:g.45194558C>T	-	C0751785 254800 Unverricht-Lundborg syndrome
NM_000100.3(CSTB):c.136C>T (p.Gln46Ter)	1476	CSTB	Pathogenic	545986367	RCV000202565; RCV000187279;	N	MedGen:C0751785,OMIM:254800,ORPHA:308,SNOMED CT:230423006; MedGen:CN221809	21	45194571	45194571	NM_000100.3:c.136C>T	NP_000091.1:p.Gln46Ter	NC_000021.8:g.45194571G>A	-	CN221809 not provided; C0751785 254800 Unverricht-Lundborg syndrome
NM_000100.3(CSTB):c.125C>A (p.Ser42Ter)	1476	CSTB	Likely pathogenic;Pathogenic	386833439	RCV000049366;	N	MedGen:C0751785,OMIM:254800,ORPHA:308,SNOMED CT:230423006	21	45194582	45194582	NM_000100.3:c.125C>A	NP_000091.1:p.Ser42Ter	NC_000021.8:g.45194582G>T	-	C0751785 254800 Unverricht-Lundborg syndrome
NM_000100.3(CSTB):c.67-1G>C	1476	CSTB	Pathogenic	147484110	RCV000008903; RCV000187278; RCV000194700;	N	MedGen:C0751785,OMIM:254800,ORPHA:308,SNOMED CT:230423006; MedGen:CN221809; MedGen:CN233037	21	45194641	45194641	NM_000100.3:c.67-1G>C		NC_000021.8:g.45194641C>G	OMIM Allelic Variant:601145.0001	CN233037 Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg); CN221809 not provided; C0751785 254800 Unverricht-Lundborg syndrome
NM_000100.3(CSTB):c.66G>A (p.Gln22=)	1476	CSTB	Likely pathogenic;Pathogenic	386833443	RCV000049370;	N	MedGen:C0751785,OMIM:254800,ORPHA:308,SNOMED CT:230423006	21	45196085	45196085	NM_000100.3:c.66G>A	NP_000091.1:p.Gln22=	NC_000021.8:g.45196085C>T	-	C0751785 254800 Unverricht-Lundborg syndrome
NM_000100.3(CSTB):c.10G>C (p.Gly4Arg)	1476	CSTB	Pathogenic	74315443	RCV000008905;	N	MedGen:C0751785,OMIM:254800,ORPHA:308,SNOMED CT:230423006	21	45196141	45196141	NM_000100.3:c.10G>C	NP_000091.1:p.Gly4Arg	NC_000021.8:g.45196141C>G	OMIM Allelic Variant:601145.0004	C0751785 254800 Unverricht-Lundborg syndrome
NM_000100.3(CSTB):c.-210_-199(30_125)	1476	CSTB	Pathogenic	386833438	RCV000049365;	N	MedGen:C0751785,OMIM:254800,ORPHA:308,SNOMED CT:230423006	21	45196349	45196360	NM_000100.3:c.-210_-199(30_125)			-	C0751785 254800 Unverricht-Lundborg syndrome
NM_000100.3(CSTB):c.-210CCCCGCCCCGCG(2_3)	1476	CSTB	Pathogenic	193922905	RCV000008906;	N	MedGen:C0751785,OMIM:254800,ORPHA:308,SNOMED CT:230423006	21	45196360	45196371	NM_000100.3:c.-210CCCCGCCCCGCG(2_3)			OMIM Allelic Variant:601145.0003	C0751785 254800 Unverricht-Lundborg syndrome