Creutzfeldt-jakob disease

Preferred Label : Creutzfeldt-jakob disease;

Symbol : CJD;

CISMeF acronym : CJD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Creutzfeldt-jakob disease, familial;

Included titles and symbols : Creutzfeldt-jakob disease, sporadic; Creutzfeldt-jakob disease, variant; Creutzfeldt-jakob disease, heidenhain variant; sCJD; vCJD;

Description : The human prion diseases occur in inherited, acquired, and sporadic forms. Approximately 15% are inherited and associated with coding mutations in the PRNP gene. Acquired prion diseases include iatrogenic CJD, kuru (245300), variant CJD (vCJD) in humans, scrapie in sheep, and bovine spongiform encephalopathy (BSE) in cattle. Variant CJD is believed to be acquired from cattle infected with BSE. However, the majority of human cases of prion disease occur as sporadic CJD (sCJD) (Collinge et al., 1996; Parchi et al., 2000; Hill et al., 2003). Johnson and Gibbs (1998) provided a comprehensive review of Creutzfeldt-Jakob disease and related transmissible spongiform encephalopathies. Tyler (2003) described the characteristics of sporadic CJD as encapsulated by C. Miller Fisher in 1960.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the prion protein gene (PRNP, 176640.0001);

Laboratory abnormalities : Normal cerebrospinal fluid; Occasionally mild elevation of CSF protein;

Prefixed ID : #123400;

Details

Origin ID

123400;

UMLS CUI

C0022336;

Automatic exact mappings (from CISMeF team)
- CJD [MedDRA LLT]
- Creutzfeldt-Jakob disease [Blood Transfusion thesaurus concept]
- Creutzfeldt-Jakob disease, familial [MeSH concept]
- Creutzfeldt-Jakob disease, heidenhain variant [MeSH Supplementary Concept]
- Creutzfeldt-Jakob disease, heidenhain variant [MeSH concept]
- Creutzfeldt-Jakob disease, sporadic [MeSH concept]
- Creutzfeldt-Jakob disease, sporadic [MeSH Supplementary Concept]
- Idiopathic normal pressure hydrocephalus (INPH) [ICD-9 code]
- Inherited Creutzfeldt-Jakob disease [ORDO Disease]
- Jakob-Creutzfeldt disease [ACR pathology]
- PRNP wt Allele [NCIt concept]
- Sporadic Creutzfeldt-Jakob Disease [ICD-11 Category]
- Sporadic Creutzfeldt-Jakob disease (disorder) [SNOMED CT concept]
- Variant Creutzfeldt-Jakob Disease [ICD-11 Subcategory]
- Variant Creutzfeldt-Jakob disease [ICD-9 code]
- Variant Creutzfeldt-Jakob disease [MedDRA Preferred Term]
- Variant Creutzfeldt-Jakob disease (disorder) [SNOMED CT concept]
- prion protein [ORDO Gene]
- prion protein (Kanno blood group) [HGNC gene]
- symbol withdrawn CJD [HGNC gene]
- variant Creutzfeldt-Jakob disease [DO Concept]
DO Cross reference
- Creutzfeldt-Jakob disease [DO Concept]
Genes related to phenotype
- Major histocompatibility complex, class II, dq beta-1 [OMIM gene]
- Prion protein [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Anxiety [HPO term]
- Apathy [HPO term]
- Aphasia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Confusion [HPO term]
- Delusions [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Extrapyramidal muscular rigidity [HPO term]
- Gait ataxia [HPO term]
- Hallucinations [HPO term]
- Hemiparesis [HPO term]
- Increased CSF protein [HPO term]
- Irritability [HPO term]
- Loss of facial expression [HPO term]
- Memory impairment [HPO term]
- Memory loss [HPO term]
- Myoclonus [HPO term]
- Personality changes [HPO term]
- Rapidly progressive [HPO term]
- Supranuclear gaze palsy [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Acquired Creutzfeldt-Jakob disease [ORDO Disease]
- Inherited Creutzfeldt-Jakob disease [ORDO Disease]
- Sporadic Creutzfeldt-Jakob disease [ORDO Disease]
See also inter- (CISMeF)
- Variant Creutzfeldt-Jakob Disease [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CJ disease [MedDRA LLT]
- CJD [MedDRA LLT]
- CREUTZFELDT-JAKOB DISEASE [WHO-ART Preferred Term]
- Creutzfeld-Jacob disease [MedDRA LLT]
- Creutzfeld-Jakob disease [MedDRA LLT]
- Creutzfeldt-Jakob Disease [NCIt concept]
- Creutzfeldt-Jakob disease [ICD-10 Sub-category (who)]
- Creutzfeldt-Jakob disease [MedDRA Preferred Term]
- Creutzfeldt-Jakob disease [ICD-10 Sub-category]
- Creutzfeldt-Jakob disease [DO Concept]
- Creutzfeldt-Jakob syndrome [MeSH concept]
- Genetic Creutzfeldt-Jakob disease [ICD-11 Subcategory]
- Jacob-Creutzfeld disease [MedDRA LLT]
- Jakob-Creutzfeldt disease [ICD-9 code]
- Jakob-Creutzfeldt disease [MedDRA LLT]
- Jakob-Creutzfeldt disease (disorder) [SNOMED CT concept]
- Sporadic Creutzfeldt-Jakob disease [ORDO Disease]
- creutzfeldt-jakob disease [MedlinePlus Topic]
- creutzfeldt-jakob syndrome [MeSH Descriptor]
- jakob-creutzfeldt disease [SNOMED Notion]
- transmissible virus dementia [SNOMED Notion]
Validated automatic mappings to BTNT
- familial Creutzfeldt Jakob disease [Disease (Nov.)]
- variant Creutzfeldt Jakob disease [Disease (Nov.)]

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