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
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:Ophthalmoplegia, Progressive Supranuclear |Palsy, Progressive Supranuclear |Progressive Supranuclear Ophthalmoplegia |Progressive Supranuclear Palsies |Progressive Supranuclear Palsy |PSNP1 |PSP |Richardson's Syndrome |Richardson Syndrome |Steele Richardson Olsze
Slim Mappings:Eye disease|Nervous system disease|Signs and symptoms
Reference: MedGen: D013494
MeSH: D013494
OMIM: 601104;
MSeqDR LSDB:  
Genes: ERCC3; MAPT;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0002304Akinesia
4 HP:0000741Apathy
5 HP:0002530Axial dystonia
6 HP:0000622Blurred vision
7 HP:0002067Bradykinesia
8 HP:0000651Diplopia
9 HP:0001260Dysarthria
NAMDC:  Dysarthria
10 HP:0002015Dysphagia
NAMDC:  Dysphagia
11 HP:0000658Eyelid apraxia
12 HP:0002527Falls
13 HP:0000743Frontal release signsHP:0040284
14 HP:0002439Frontolimbic dementia
15 HP:0002141Gait imbalance
16 HP:0002171Gliosis
17 HP:0002528Granulovacuolar degeneration
18 HP:0001425Heterogeneous
19 HP:0000737Irritability
20 HP:0002451Limb dystoniaHP:0040284
21 HP:0002354Memory impairment
22 HP:0002300Mutism
23 HP:0002185Neurofibrillary tangles
24 HP:0002529Neuronal loss in central nervous system
25 HP:0001300Parkinsonism
NAMDC:  Parkinsonism
26 HP:0000613Photophobia
27 HP:0002544Retrocollis
28 HP:0002063Rigidity
29 HP:0000605Supranuclear gaze palsy
30 HP:0001337TremorHP:0040284
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr)4137MAPTUncertain significance974837695RCV002049876|RCV002506868; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0008243,MedGen:C0236642,OMIM:172700, Orphanet:282; MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104, Orphanet:240071; Human Phenotype Ontology:HP:00017440397134403971344039713-
NM_001377265.1(MAPT):c.14G>T (p.Arg5Leu)4137MAPTPathogenic63750959RCV000084498|RCV002508758; NMedGen:C3661900|MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104, Orphanet:24007117440397174403971717:g.44039717G>TClinGen:CA225379,UniProtKB:P10636#VAR_019661,OMIM:157140.0019CN517202 not provided;
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile)4137MAPTUncertain significance374996228RCV001229146|RCV002491726; NHuman 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:2417440397924403979217:g.44039792C>T-
NM_001377265.1(MAPT):c.914A>G (p.Gln305Arg)4137MAPTBenign/Likely benign63750072RCV000084502|RCV000246243|RCV000555583|RCV002490738; NMedGen:C3661900|MedGen:CN169374|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104, Orphanet:240071; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedG17440608594406085917:g.44060859A>GClinGen:CA225387C0338451 600274 Frontotemporal dementia;
NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys)4137MAPTUncertain significance770274373RCV001938426|RCV002484525; NHuman Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282|MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104, Orphanet:240071; Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet17440738394407383944073839-
NM_001377265.1(MAPT):c.2084G>T (p.Gly695Val)4137MAPTPathogenic63751391RCV000084529|RCV002508760; NMedGen:C3661900|MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104, Orphanet:24007117440877614408776117:g.44087761G>TClinGen:CA225451,UniProtKB:P10636#VAR_037439,OMIM:157140.0025CN517202 not provided;
NM_001377265.1(MAPT):c.2231C>T (p.Ser744Leu)4137MAPTPathogenic63750425RCV000084550|RCV002508759; NMedGen:C3661900|MONDO:MONDO:0010997,MedGen:C4551863,OMIM:601104, Orphanet:24007117440960414409604117:g.44096041C>TClinGen:CA225487,UniProtKB:P10636#VAR_019667,OMIM:157140.0023CN517202 not provided;
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