ORPHA:282166
Inherited Creutzfeldt-Jakob disease
Synonyms: Inherited CJD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult, Elderly
- Status
- active
A rare form of genetic prion disease characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Inherited Creutzfeldt-Jakob disease | Inherited CJD |
| fr | Maladie de Creutzfeldt-Jakob héréditaire | |
| de | Creutzfeldt-Jakob-Krankheit, hereditäre | CJD, hereditär |
| es | Enfermedad de Creutzfeldt-Jakob hereditaria | ECJ familiar · ECJ hereditaria |
| it | Malattia ereditaria di Creutzfeldt-Jakob | CJD ereditaria |
| nl | Overgeërfde ziekte van Creutzfeldt-Jakob | Overgeërfde CJD |
| pt | Doença de Creutzfeldt-Jakob hereditária | CJD hereditária |
| pl | Dziedziczna choroba Creutzfeldta i Jakoba | Dziedziczna CJD |
| cs | Dědičná Creutzfeldtova-Jakobova nemoc | Vrozená CJD · Dědičná Creutzfeldt-Jakobova nemoc |
| uk | Спадкова хвороба Крейтцфельдта-Якоба | Успадкована CJD |
| zh | 遗传性Creutzfeldt-Jakob病 | 遗传性CJD |
| tr | Kalıtsal Creutzfeldt-Jakob hastalığı | Kalıtsal CJD |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 123400 | E | validated | |
| ICD-10 | A81.0 | NTBT | specific | validated |
| ICD-11 | 8E02.0 | E | specific | validated |
| MONDO | 0007403 | E | validated | |
| UMLS | C0751254 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:280400Inherited human prion disease
rare genetic diseases; rare neurological diseases - ORPHA:307058Miscellaneous movement disorder due to genetic neurodegenerative disease
rare genetic diseases - ORPHA:306695Miscellaneous movement disorder due to neurodegenerative disease
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRNP | Disease-causing germline mutation(s) in | Assessed | HGNC:9449 | ENSG00000171867 | 176640 | 20p13 | prion protein (Kanno blood group) | 10790216[PMID]_20301407[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
50 annotations · validated 2017-09-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0007256 | Abnormal pyramidal sign | Diagnostic criterion |
| HP:0000504 | Abnormality of vision | Diagnostic criterion |
| HP:0012672 | Akinetic mutism | Diagnostic criterion |
| HP:0000739 | Anxiety | |
| HP:0000741 | Apathy | |
| HP:0002446 | Astrocytosis | |
| HP:0003487 | Babinski sign | |
| HP:0002067 | Bradykinesia | |
| HP:0007009 | Central nervous system degeneration | |
| HP:0002312 | Clumsiness | |
| HP:0001289 | Confusion | |
| HP:0000726 | Dementia | Diagnostic criterion |
| HP:0000716 | Depression | |
| HP:0006943 | Diffuse spongiform leukoencephalopathy | |
| HP:0010846 | EEG with persistent abnormal rhythmic activity | Diagnostic criterion |
| HP:0000712 | Emotional lability | |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion | Diagnostic criterion |
| HP:0002066 | Gait ataxia | |
| HP:0002283 | Global brain atrophy | |
| HP:0100786 | Hypersomnia | |
| HP:0100785 | Insomnia | |
| HP:0000737 | Irritability | |
| HP:0005327 | Loss of facial expression | |
| HP:0001324 | Muscle weakness | |
| HP:0001336 | Myoclonus | Diagnostic criterion |
| HP:0002529 | Neuronal loss in central nervous system | |
| HP:0000639 | Nystagmus | |
| HP:0000751 | Personality changes | |
| HP:0025152 | Poor visual behavior for age | |
| HP:0002073 | Progressive cerebellar ataxia | Diagnostic criterion |
| HP:0007158 | Progressive extrapyramidal muscular rigidity | Diagnostic criterion |
| HP:0007017 | Progressive forgetfulness | |
| HP:0001250 | Seizure | |
| HP:0100256 | Senile plaques | |
| HP:0000736 | Short attention span | |
| HP:0001350 | Slurred speech | |
| HP:0002464 | Spastic dysarthria | |
| HP:0011099 | Spastic hemiparesis | |
| HP:0002401 | Stroke-like episode | |
| HP:0000605 | Supranuclear gaze palsy | |
| HP:0001337 | Tremor | |
| Occasional (29-5%) | ||
| HP:0007686 | Abnormal pupillary function | |
| HP:0100292 | Amyloidosis of peripheral nerves | |
| HP:0002072 | Chorea | |
| HP:0000746 | Delusion | |
| HP:0000738 | Hallucinations | |
| HP:0002922 | Increased CSF protein concentration | Diagnostic criterion |
| HP:0100661 | Trigeminal neuralgia | |
| HP:0010542 | Vestibular nystagmus | |
Annotation source: 14088252[PMID]_3094007[PMID]_1677164[PMID]_1675319[PMID]_14522862[PMID]_10360778[PMID]_12197632[PMID]_9279329[PMID]_1469441[PMID]_16301504[PMID]_16682677[PMID]_15314808[PMID]_16434680[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/282166
- This record as JSON: /data/d/282166.json