Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

GERSTMANN-STRAUSSLER DISEASE
Synonyms

GSD

PRION DEMENTIA

GSS

CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED

GERSTMANN-STRAUSSLER-SCHEINKER DISEASE

AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY

ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE

CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS
ID

http://purl.bioontology.org/ontology/OMIM/137440
altLabel

GSD

PRION DEMENTIA

GSS

CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED

GERSTMANN-STRAUSSLER-SCHEINKER DISEASE

AMYLOIDOSIS, CEREBRAL, WITH SPONGIFORM ENCEPHALOPATHY

ENCEPHALOPATHY, SUBACUTE SPONGIFORM, GERSTMANN-STRAUSSLER TYPE

CEREBELLAR ATAXIA, PROGRESSIVE DEMENTIA, AND AMYLOID DEPOSITS IN CNS
cui

C0017495

C3805618

C2931022
Gene Locus

20pter-p12
Gene Symbol

PRIP

KURU

CJD

PRNP
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000248

http://purl.bioontology.org/ontology/OMIM/MTHU000929

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU036402

http://purl.bioontology.org/ontology/OMIM/MTHU020461

http://purl.bioontology.org/ontology/OMIM/MTHU036650

http://purl.bioontology.org/ontology/OMIM/MTHU016239

http://purl.bioontology.org/ontology/OMIM/MTHU036363

http://purl.bioontology.org/ontology/OMIM/MTHU027079

http://purl.bioontology.org/ontology/OMIM/MTHU018069

http://purl.bioontology.org/ontology/OMIM/MTHU000136

http://purl.bioontology.org/ontology/OMIM/MTHU000539

http://purl.bioontology.org/ontology/OMIM/MTHU018066

http://purl.bioontology.org/ontology/OMIM/MTHU000765

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU001772

http://purl.bioontology.org/ontology/OMIM/MTHU000926

http://purl.bioontology.org/ontology/OMIM/MTHU018067

http://purl.bioontology.org/ontology/OMIM/MTHU002910

http://purl.bioontology.org/ontology/OMIM/MTHU000301

http://purl.bioontology.org/ontology/OMIM/MTHU000764

http://purl.bioontology.org/ontology/OMIM/MTHU036678

http://purl.bioontology.org/ontology/OMIM/MTHU000867

http://purl.bioontology.org/ontology/OMIM/MTHU001776

http://purl.bioontology.org/ontology/OMIM/MTHU018064

http://purl.bioontology.org/ontology/OMIM/MTHU018068

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU024201

http://purl.bioontology.org/ontology/OMIM/MTHU036372

http://purl.bioontology.org/ontology/OMIM/MTHU067189

http://purl.bioontology.org/ontology/OMIM/MTHU009354

http://purl.bioontology.org/ontology/OMIM/MTHU002752

http://purl.bioontology.org/ontology/OMIM/MTHU000928

http://purl.bioontology.org/ontology/OMIM/MTHU000940
MIMTYPEMEANING

Phenotype description, molecular basis known.
Moved from

183000
notation

137440
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

GERSTMANN-STRAUSSLER DISEASE
Scope Statement

Adult onset, usually 30's to 40's, but up to early 60's [MISCELLANEOUS]

Average disease duration of 7 years [MISCELLANEOUS]

Caused by mutation in the prion protein gene (PRNP, 176640.0002) [MOLECULAR BASIS]

Variable phenotype [MISCELLANEOUS]

Rapidly progressive, but slower than Creutzfeldt-Jakob disease (123400) [MISCELLANEOUS]

Longer disease duration than Creutzfeldt-Jakob disease [MISCELLANEOUS]
tui

T047
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