Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

GERSTMANN-STRAUSSLER DISEASE

Synonyms

GSD

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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