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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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Myoclonic Epilepsies, Progressive (D020191)
..Starting node ..Lafora Disease (D020192)
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:

6182

Name:

Lafora Disease

Definition:

A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)

Alternative IDs:

OMIM:254780

ParentIDs:

MESH:D020191|MESH:D020271

TreeNumbers:

C10.228.140.490.250.650.500 |C10.574.500.529 |C16.320.400.480

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: D020192
MeSH: D020192
OMIM: 254780;

Genes: EPM2A; NHLRC1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007334	Bilateral tonic-clonic seizure with focal onset
3	HP:0001939	Abnormality of metabolism/homeostasis
4	HP:0002186	Apraxia
5	HP:0000992	Cutaneous photosensitivity
6	HP:0000726	Dementia
7	HP:0011165	Focal sensory seizure with visual features
8	HP:0001288	Gait disturbance
9	HP:0002123	Generalized myoclonic seizure
10	HP:0002121	Generalized non-motor (absence) seizure
11	HP:0001399	Hepatic failure
12	HP:0001425	Heterogeneous
13	HP:0001336	Myoclonus
14	HP:0025121	obsolete Simple partial occipital seizures
15	HP:0002344	Progressive neurologic deterioration
16	HP:0000709	Psychosis
17	HP:0003678	Rapidly progressive
18	HP:0002367	Visual hallucinations
19	HP:0000572	Visual loss

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_005670.3(EPM2A):c.163C>A (p.Gln55Lys)	-1	-	Benign;Likely benign;Uncertain significance	187930476	RCV000192024; RCV000116984;	N	MedGen:C0751783,OMIM:254780,ORPHA:501,SNOMED CT:230425004; MedGen:CN169374	6	146056472	146056472	NM_005670.3:c.163C>A	NP_005661.1:p.Gln55Lys	NC_000006.11:g.146056472G>T	-	C0751783 254780 Lafora disease; CN169374 not specified
NM_005670.3(EPM2A):c.136G>C (p.Ala46Pro)	-1	-	Benign	374338349	RCV000192023; RCV000173389;	N	MedGen:C0751783,OMIM:254780,ORPHA:501,SNOMED CT:230425004; MedGen:CN169374	6	146056499	146056499	NM_005670.3:c.136G>C	NP_005661.1:p.Ala46Pro	NC_000006.11:g.146056499C>G,NC_000006.11:g.146056499C>T	-	C0751783 254780 Lafora disease; CN169374 not specified
NM_005670.3(EPM2A):c.94T>G (p.Trp32Gly)	-1	-	Pathogenic	104893955	RCV000003253;	N	MedGen:C0751783,OMIM:254780,ORPHA:501,SNOMED CT:230425004	6	146056541	146056541	NM_005670.3:c.94T>G	NP_005661.1:p.Trp32Gly	NC_000006.11:g.146056541A>C	OMIM Allelic Variant:607566.0010	C0751783 254780 Lafora disease
NM_005670.3(EPM2A):c.950dupT (p.Gln319Profs)	7957	EPM2A	Pathogenic	587776554	RCV000003252;	N	MedGen:C0751783,OMIM:254780,ORPHA:501,SNOMED CT:230425004	6	145948598	145948598	NM_005670.3:c.950dupT	NP_005661.1:p.Gln319Profs		OMIM Allelic Variant:607566.0009	C0751783 254780 Lafora disease
NM_005670.3(EPM2A):c.835G>A (p.Gly279Ser)	7957	EPM2A	Pathogenic	137852917	RCV000003245;	N	MedGen:C0751783,OMIM:254780,ORPHA:501,SNOMED CT:230425004	6	145948713	145948713	NM_005670.3:c.835G>A	NP_005661.1:p.Gly279Ser	NC_000006.11:g.145948713C>T	OMIM Allelic Variant:607566.0002	C0751783 254780 Lafora disease
NM_005670.3(EPM2A):c.721C>T (p.Arg241Ter)	7957	EPM2A	Pathogenic	104893950	RCV000003244; RCV000187394;	N	MedGen:C0751783,OMIM:254780,ORPHA:501,SNOMED CT:230425004; MedGen:CN221809	6	145948827	145948827	NM_005670.3:c.721C>T	NP_005661.1:p.Arg241Ter	NC_000006.11:g.145948827G>A	OMIM Allelic Variant:607566.0001	C0751783 254780 Lafora disease; CN221809 not provided
NM_005670.3(EPM2A):c.512G>A (p.Arg171His)	7957	EPM2A	Pathogenic	137852916	RCV000003248;	N	MedGen:C0751783,OMIM:254780,ORPHA:501,SNOMED CT:230425004	6	145956587	145956587	NM_005670.3:c.512G>A	NP_005661.1:p.Arg171His	NC_000006.11:g.145956587C>T	OMIM Allelic Variant:607566.0005	C0751783 254780 Lafora disease
NM_005670.3(EPM2A):c.335dupA (p.Tyr112Terfs)	7957	EPM2A	Pathogenic	587776553	RCV000003247;	N	MedGen:C0751783,OMIM:254780,ORPHA:501,SNOMED CT:230425004	6	146007399	146007399	NM_005670.3:c.335dupA	NP_005661.1:p.Tyr112Terfs		OMIM Allelic Variant:607566.0004	C0751783 254780 Lafora disease
NM_005670.3(EPM2A):c.322C>T (p.Arg108Cys)	7957	EPM2A	Pathogenic	137852915	RCV000003246;	N	MedGen:C0751783,OMIM:254780,ORPHA:501,SNOMED CT:230425004	6	146007412	146007412	NM_005670.3:c.322C>T	NP_005661.1:p.Arg108Cys	NC_000006.11:g.146007412G>A	OMIM Allelic Variant:607566.0003	C0751783 254780 Lafora disease
NM_198586.2(NHLRC1):c.664G>T (p.Glu222Ter)	378884	NHLRC1	Pathogenic	794726964	RCV000173592;	N	MedGen:C0751783,OMIM:254780,ORPHA:501,SNOMED CT:230425004	6	18122174	18122174	NM_198586.2:c.664G>T	NP_940988.2:p.Glu222Ter	NC_000006.11:g.18122174C>A	-	C0751783 254780 Lafora disease
NM_198586.2(NHLRC1):c.593T>A (p.Ile198Asn)	378884	NHLRC1	Pathogenic	121917876	RCV000002709; RCV000192028;	N	MedGen:C0751783,OMIM:254780,ORPHA:501,SNOMED CT:230425004; MedGen:C1850764	6	18122245	18122245	NM_198586.2:c.593T>A	NP_940988.2:p.Ile198Asn	NC_000006.11:g.18122245A>T	OMIM Allelic Variant:608072.0006	C1850764 Epilepsy, progressive myoclonic 2b; C0751783 254780 Lafora disease
NM_198586.2(NHLRC1):c.468_469delAG (p.Gly158Argfs)	378884	NHLRC1	Pathogenic	587776542	RCV000002706; RCV000192029; RCV000188221;	N	MedGen:C0751783,OMIM:254780,ORPHA:501,SNOMED CT:230425004; MedGen:C1850764; MedGen:CN221809	6	18122369	18122370	NM_198586.2:c.468_469delAG	NP_940988.2:p.Gly158Argfs	NC_000006.11:g.18122369_18122370delCT	OMIM Allelic Variant:608072.0003	C1850764 Epilepsy, progressive myoclonic 2b; C0751783 254780 Lafora disease; CN221809 not provided
NM_198586.2(NHLRC1):c.436G>A (p.Asp146Asn)	378884	NHLRC1	Pathogenic	769301934	RCV000192027; RCV000188209;	N	MedGen:C0751783,OMIM:254780,ORPHA:501,SNOMED CT:230425004; MedGen:CN221809	6	18122402	18122402	NM_198586.2:c.436G>A	NP_940988.2:p.Asp146Asn	NC_000006.11:g.18122402C>T	-	C0751783 254780 Lafora disease; CN221809 not provided
NM_198586.2(NHLRC1):c.205C>G (p.Pro69Ala)	378884	NHLRC1	Pathogenic	28940576	RCV000002705; RCV000192026; RCV000188208;	N	MedGen:C0751783,OMIM:254780,ORPHA:501,SNOMED CT:230425004; MedGen:C1850764; MedGen:CN221809	6	18122633	18122633	NM_198586.2:c.205C>G	NP_940988.2:p.Pro69Ala	NC_000006.11:g.18122633G>C	OMIM Allelic Variant:608072.0002	C1850764 Epilepsy, progressive myoclonic 2b; C0751783 254780 Lafora disease; CN221809 not provided
NM_198586.2(NHLRC1):c.76T>A (p.Cys26Ser)	378884	NHLRC1	Pathogenic	28940575	RCV000002704; RCV000192025;	N	MedGen:C0751783,OMIM:254780,ORPHA:501,SNOMED CT:230425004; MedGen:C1850764	6	18122762	18122762	NM_198586.2:c.76T>A	NP_940988.2:p.Cys26Ser	NC_000006.11:g.18122762A>T	OMIM Allelic Variant:608072.0001	C1850764 Epilepsy, progressive myoclonic 2b; C0751783 254780 Lafora disease