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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/123400
http://purl.bioontology.org/ontology/OMIM/123400
|
|---|---|
| Preferred Name | CREUTZFELDT-JAKOB DISEASE |
| Synonyms |
CREUTZFELDT-JAKOB DISEASE, VARIANT
CREUTZFELDT-JAKOB DISEASE, HEIDENHAIN VARIANT
sCJD
vCJD
CREUTZFELDT-JAKOB DISEASE, SPORADIC
CJD
CREUTZFELDT-JAKOB DISEASE, FAMILIAL
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CREUTZFELDT-JAKOB DISEASE, VARIANT
CREUTZFELDT-JAKOB DISEASE, HEIDENHAIN VARIANT
sCJD
vCJD
CREUTZFELDT-JAKOB DISEASE, SPORADIC
CJD
CREUTZFELDT-JAKOB DISEASE, FAMILIAL
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|---|---|
| prefLabel | CREUTZFELDT-JAKOB DISEASE
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| Gene Symbol |
CELIAC1
HLA-DQB1
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| Scope Statement | Patients with variant CJD are homozygous for met129 polymorphism (176640.0005) [MISCELLANEOUS]
Caused by mutations in the prion protein gene (PRNP, 176640.0001) [MOLECULAR BASIS]
Most cases are sporadic [MISCELLANEOUS]
Mean age at onset for variant CJD is 29 years (before age 45 years) [MISCELLANEOUS]
Mean survival 5 months [MISCELLANEOUS]
15% cases are familial [MISCELLANEOUS]
Rapid progression [MISCELLANEOUS]
Three forms of CJD: acquired (including variant), sporadic, and inherited [MISCELLANEOUS]
Mean age at onset for sporadic CJD is 60 years (range, 50 to 70 years) [MISCELLANEOUS]
Incidence of all forms of CJD is 0.5 to 1.5 per million per year [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | 6p21.3
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 123400
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C0376329
C1969957
C0022336
C0751254
C1852467
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |