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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: Dementia (D003704)
Parent Node: Neurodegenerative Diseases (D019636)
Parent Node: Parkinsonian Disorders (D020734)
..Starting node ..Lewy Body Disease (D020961)
Child Nodes:
........Autosomal dominant diffuse Lewy body disease (C538637)
........Diffuse Lewy Body Disease with Gaze Palsy (C565077)
........Parkinson Disease 4, Autosomal Dominant Lewy Body (C565324)
Sister Nodes:
..Dementia/Parkinsonism With Non-Alzheimer Amyloid Plaques (C565115)
..Dystonia-Parkinsonism, Adult-Onset (C567844)
..Lewy Body Disease (D020961) 3
..Parkinson Disease (D010300) 24
..Parkinson Disease 5 (C566017)
..Parkinson Disease 8 (C564631)
..Parkinson disease 9 (C537177)
..Parkinson Disease, Secondary (D010302) 4
..Perry Syndrome (C566822)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6413

Name:

Lewy Body Disease

Definition:

A neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. The neuropsychiatric manifestations tend to precede the onset of bradykinesia, MUSCLE RIGIDITY, and other extrapyramidal signs. DELUSIONS and visual HALLUCINATIONS are relatively frequent in this condition. Histologic examination reveals LEWY BODIES in the CEREBRAL CORTEX and BRAIN STEM. SENILE PLAQUES and other pathologic features characteristic of ALZHEIMER DISEASE may also be present. (From Neurology 1997;48:376-380; Neurology 1996;47:1113-1124)

Alternative IDs:

OMIM:127750

ParentIDs:

MESH:D003704|MESH:D019636|MESH:D020734

TreeNumbers:

C10.228.140.079.862.400 |C10.228.140.380.422 |C10.228.662.600.200 |C10.574.531 |F03.087.400.512

Synonyms:

Slim Mappings:

Mental disorder|Nervous system disease

Reference:

MedGen: D020961
MeSH: D020961
OMIM: 127750;

Genes: GBA; SNCA; SNCB;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000746	Delusions
3	HP:0000726	Dementia
4	HP:0007159	Fluctuations in consciousness
5	HP:0001300	Parkinsonism
6	HP:0002367	Visual hallucinations

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_000345.3(SNCA):c.136G>A (p.Glu46Lys)	6622	SNCA	Pathogenic	104893875	RCV000015047;	N	MedGen:C0752347,OMIM:127750	4	90749321	90749321	NM_000345.3:c.136G>A	NP_000336.1:p.Glu46Lys	NC_000004.11:g.90749321C>T	OMIM Allelic Variant:163890.0004	C0752347 127750 Lewy body dementia
NM_001001502.2(SNCB):c.368C>A (p.Pro123His)	6620	SNCB	Pathogenic	104893937	RCV000007441;	N	MedGen:C0752347,OMIM:127750	5	176048219	176048219	NM_001001502.2:c.368C>A	NP_001001502.1:p.Pro123His	NC_000005.9:g.176048219G>T	OMIM Allelic Variant:602569.0002	C0752347 127750 Lewy body dementia
NM_001001502.2(SNCB):c.208G>A (p.Val70Met)	6620	SNCB	Pathogenic	104893936	RCV000007440;	N	MedGen:C0752347,OMIM:127750	5	176053473	176053473	NM_001001502.2:c.208G>A	NP_001001502.1:p.Val70Met	NC_000005.9:g.176053473C>T	OMIM Allelic Variant:602569.0001	C0752347 127750 Lewy body dementia