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:5038
Name:Gerstmann-Straussler-Scheinker Disease
Definition:An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. (From Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75)
Alternative IDs:DO:DOID:4249|OMIM:137440
ParentIDs:MESH:D017096|MESH:D020271
TreeNumbers:C10.228.228.800.350 |C10.574.500.425 |C10.574.843.400 |C16.320.400.350
Synonyms:AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY |CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS |Disease, Gerstmann-Straussler |Diseases, Gerstmann-Straussler |Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type |Gerstma
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: D016098
MeSH: D016098
OMIM: 137440;
MSeqDR LSDB:  
Genes: PRNP;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0000718Aggressive behavior
4 HP:0002186Apraxia
5 HP:0001284Areflexia
6 HP:0002067Bradykinesia
7 HP:0001272Cerebellar atrophy
8 HP:0000726Dementia
NAMDC:  Dementia
Late onset
9 HP:0000716Depressivity
NAMDC:  Depression
10 HP:0001260Dysarthria
NAMDC:  Dysarthria
11 HP:0000712Emotional lability
12 HP:0002066Gait ataxia
13 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
14 HP:0007772Impaired smooth pursuit
15 HP:0002070Limb ataxia
16 HP:0007340Lower limb muscle weakness
17 HP:0002354Memory impairment
18 HP:0001336Myoclonus
NAMDC:  Myoclonus
19 HP:0002185Neurofibrillary tangles
20 HP:0001300Parkinsonism
NAMDC:  Parkinsonism
21 HP:0030223Perseveration
22 HP:0000751Personality changes
23 HP:0003812Phenotypic variability
24 HP:0000709Psychosis
25 HP:0003678Rapidly progressive
26 HP:0002063Rigidity
27 HP:0001257Spasticity
NAMDC:  Spasticity
28 HP:0001337Tremor
29 HP:0002078Truncal ataxia
30 HP:0001824Weight loss
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000311.5(PRNP):c.154_177[6_13]5621PRNPPathogenic193922906RCV000014328|RCV000014326|RCV000014327|RCV000020259; NMONDO:MONDO:0011299,MedGen:C1864112,OMIM:603218, Orphanet:157941|MONDO:MONDO:0007403,MedGen:C0751254,OMIM:123400, Orphanet:204, Orphanet:282166, Orphanet:454700|MONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440, Orphanet:356|MONDO:MONDO:0017234,MedGen:C56797752046800264680049OMIM:176640.0001C0162534 Genetic prion diseases;
NM_000311.5(PRNP):c.206A>T (p.His69Leu)5621PRNPUncertain significance-1RCV002283861; NMONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440, Orphanet:35620468007246800724680072-
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu)5621PRNPPathogenic74315401RCV000014329|RCV001203438|RCV001269667|RCV001642224|RCV001813741; NMONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440, Orphanet:356|MONDO:MONDO:0011299,MedGen:C1864112,OMIM:603218, Orphanet:157941|MedGen:CN517202|MONDO:MONDO:0011703,MedGen:C1847650,OMIM:606688|MONDO:MONDO:0007403,MedGen:C0751254,OMIM:123400, Orphanet:204,Orp204680171468017120:g.4680171C>TClinGen:CA256774,UniProtKB:P04156#VAR_006464,OMIM:176640.0002C0162534 Genetic prion diseases;
NM_000311.5(PRNP):c.313C>T (p.Pro105Ser)5621PRNPUncertain significance74315414RCV000014357|RCV003319302; NMONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440, Orphanet:356|MedGen:CN517202204680179468017920:g.4680179C>TClinGen:CA256788,OMIM:176640.0027C0162534 Genetic prion diseases;
NM_000311.5(PRNP):c.314C>T (p.Pro105Leu)5621PRNPPathogenic11538758RCV000014343|RCV000190750; NMONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440, Orphanet:356|MeSH:D030342,MedGen:C0950123204680180468018020:g.4680180C>TClinGen:CA204782,UniProtKB:P04156#VAR_006465,OMIM:176640.0015C0162534 Genetic prion diseases;
NM_000311.5(PRNP):c.350C>T (p.Ala117Val)5621PRNPPathogenic74315402RCV000014330|RCV000623716; NMONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440, Orphanet:356|MeSH:D030342,MedGen:C0950123204680216468021620:g.4680216C>TClinGen:CA256776,UniProtKB:P04156#VAR_006466,OMIM:176640.0004C0162534 Genetic prion diseases;
NM_000311.5(PRNP):c.392G>T (p.Gly131Val)5621PRNPConflicting interpretations of pathogenicity74315410RCV000014351|RCV001348311; NMONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440, Orphanet:356|MONDO:MONDO:0011299,MedGen:C1864112,OMIM:603218, Orphanet:157941204680258468025820:g.4680258G>TClinGen:CA256784,UniProtKB:P04156#VAR_014264,OMIM:176640.0021C0017495 137440 Gerstmann-Straussler-Scheinker syndrome;
NM_000311.5(PRNP):c.392G>A (p.Gly131Glu)5621PRNPLikely pathogenic74315410RCV001809309; NMONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440, Orphanet:35620468025846802584680258-
NM_000311.5(PRNP):c.398C>T (p.Ala133Val)5621PRNPPathogenic74315415RCV000014356; NMONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440, Orphanet:356204680264468026420:g.4680264C>TClinGen:CA256786,OMIM:176640.0026C0017495 137440 Gerstmann-Straussler-Scheinker syndrome;
NM_000311.5(PRNP):c.560A>G (p.His187Arg)5621PRNPPathogenic74315413RCV000014353|RCV000014354; NMONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440, Orphanet:356|MONDO:MONDO:0011703,MedGen:C1847650,OMIM:606688204680426468042620:g.4680426A>GClinGen:CA123096,UniProtKB:P04156#VAR_008746,OMIM:176640.0024C0162534 Genetic prion diseases;
NM_000311.5(PRNP):c.593T>C (p.Phe198Ser)5621PRNPPathogenic74315405RCV000014340|RCV000644586|RCV001551488; NMONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440, Orphanet:356|MONDO:MONDO:0011299,MedGen:C1864112,OMIM:603218, Orphanet:157941|MedGen:CN517202204680459468045920:g.4680459T>COMIM:176640.0011,ClinGen:CA256779,UniProtKB:P04156#VAR_006472C0162534 Genetic prion diseases;
NM_000311.5(PRNP):c.633G>C (p.Glu211Asp)5621PRNPUncertain significance398122413RCV000074467|RCV001854271; NMONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440, Orphanet:356|MONDO:MONDO:0011299,MedGen:C1864112,OMIM:603218, Orphanet:157941204680499468049920:g.4680499G>CClinGen:CA266208,OMIM:176640.0029C0017495 137440 Gerstmann-Straussler-Scheinker syndrome;
NM_000311.5(PRNP):c.650A>G (p.Gln217Arg)5621PRNPLikely pathogenic74315406RCV000014341|RCV001851852; NMONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440, Orphanet:356|MONDO:MONDO:0011299,MedGen:C1864112,OMIM:603218, Orphanet:157941204680516468051620:g.4680516A>GClinGen:CA256780,UniProtKB:P04156#VAR_006476,OMIM:176640.0012C0162534 Genetic prion diseases;
NM_000311.5(PRNP):c.679C>T (p.Gln227Ter)5621PRNPPathogenic17852079RCV000074472; NMONDO:MONDO:0007656,MedGen:C0017495,OMIM:137440, Orphanet:356204680545468054520:g.4680545C>TClinGen:CA266211,OMIM:176640.0034C0017495 137440 Gerstmann-Straussler-Scheinker syndrome;
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