MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Hello! Guest! Please Login or Register! Clinician Mode

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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Basal Ganglia Diseases (D001480)
Parent Node: Movement Disorders (D009069)
Parent Node: Ophthalmoplegia (D009886)
Parent Node: Tauopathies (D024801)
..Starting node ..Supranuclear Palsy, Progressive (D013494)
Child Nodes:
........Familial progressive supranuclear palsy (C538572)
........Progressive supranuclear palsy atypical (C537240)
........Supranuclear Palsy, Progressive, 2 (C563717)
........Supranuclear Palsy, Progressive, 3 (C567050)
........Tauopathy and Respiratory Failure (C563580)
Sister Nodes:
..Alzheimer Disease (D000544) 24
..Diffuse Neurofibrillary Tangles with Calcification (D055956)
..Supranuclear Palsy, Progressive (D013494) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11821

Name:

Supranuclear Palsy, Progressive

Definition:

A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7)

Alternative IDs:

DO:DOID:678|OMIM:601104

ParentIDs:

MESH:D001480|MESH:D009069|MESH:D009886|MESH:D024801

TreeNumbers:

C10.228.140.079.882 |C10.228.662.700 |C10.292.562.750.500 |C10.574.945.500 |C10.597.622.447.690 |C11.590.472.500 |C23.888.592.636.447.690

Synonyms:

Slim Mappings:

Eye disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: D013494
MeSH: D013494
OMIM: 601104;
MSeqDR :
Genes: ERCC3; MAPT;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003581	Adult onset
3	HP:0002304	Akinesia
4	HP:0000741	Apathy
5	HP:0002530	Axial dystonia
6	HP:0000622	Blurred vision
7	HP:0002067	Bradykinesia
8	HP:0000651	Diplopia
9	HP:0001260	Dysarthria NAMDC: Dysarthria
10	HP:0002015	Dysphagia NAMDC: Dysphagia
11	HP:0000658	Eyelid apraxia
12	HP:0002527	Falls
13	HP:0000743	Frontal release signs	HP:0040284
14	HP:0002439	Frontolimbic dementia
15	HP:0002141	Gait imbalance
16	HP:0002171	Gliosis
17	HP:0002528	Granulovacuolar degeneration
18	HP:0001425	Heterogeneous
19	HP:0000737	Irritability
20	HP:0002451	Limb dystonia	HP:0040284
21	HP:0002354	Memory impairment
22	HP:0002300	Mutism
23	HP:0002185	Neurofibrillary tangles
24	HP:0002529	Neuronal loss in central nervous system
25	HP:0001300	Parkinsonism NAMDC: Parkinsonism
26	HP:0000613	Photophobia
27	HP:0002544	Retrocollis
28	HP:0002063	Rigidity
29	HP:0000605	Supranuclear gaze palsy
30	HP:0001337	Tremor	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001377265.1(MAPT):c.14G>T (p.Arg5Leu)	4137	MAPT	Pathogenic	rs63750959	RCV000084498\|RCV002508758;	N	MedGen:CN517202\|MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104, Orphanet:240071	17	44039717	44039717	17:g.44039717G>T	ClinGen:CA225379,UniProtKB:P10636#VAR_019661,OMIM:157140.0019	CN517202 not provided;
NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro)	4137	MAPT	Uncertain significance	rs753640366	RCV000521274\|RCV002476073;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104, Orphanet:240071; MONDO:MONDO:0008199,MedGen:C3160718,OMIM:168600, Orphanet:411602; MONDO:MONDO:	17	44060987	44060987	17:g.44060987T>C	ClinGen:CA8617760	CN169374 not specified;
NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys)	4137	MAPT	Uncertain significance	-1	RCV001938426\|RCV002484525;	N	Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282; MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104, Orphanet:24	17	44073839	44073839	44073839	-
NM_001377265.1(MAPT):c.2084G>T (p.Gly695Val)	4137	MAPT	Pathogenic	rs63751391	RCV000084529\|RCV002508760;	N	MedGen:CN517202\|MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104, Orphanet:240071	17	44087761	44087761	17:g.44087761G>T	ClinGen:CA225451,UniProtKB:P10636#VAR_037439,OMIM:157140.0025	CN517202 not provided;
NM_001377265.1(MAPT):c.2231C>T (p.Ser744Leu)	4137	MAPT	Pathogenic	rs63750425	RCV000084550\|RCV002508759;	N	MedGen:CN517202\|MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104, Orphanet:240071	17	44096041	44096041	17:g.44096041C>T	ClinGen:CA225487,UniProtKB:P10636#VAR_019667,OMIM:157140.0023	CN517202 not provided;

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