Kuru
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial, Not applicable
- Age of onset
- All ages
- Status
- historical
A rare acquired human prion disease characterized by rapidly progressive, fatal neurodegeneration, caused by the consumption of prion-containing tissue in endocannibalistic funeral rituals in Papua New Guinea until the late 1950s. After a decades-long asymptomatic period and a non-specific prodromal phase with headaches and arthralgia, the most prominent neurological feature is ataxia, in addition to other symptoms involving the cerebellum, brain stem, mid-brain, hypothalamus, and cerebral cortex, and emotional changes including inappropriate euphoria and compulsive laughter, or depression and apprehension. There have been no further description in the literature since 2004.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kuru | |
| fr | Kuru | |
| de | Kuru | |
| es | Kuru | |
| it | Kuru | |
| nl | Kuru | Koeroe |
| pt | Kuru | |
| pl | Kuru | |
| cs | Kuru | |
| uk | Куру | |
| zh | 库鲁病 | |
| tr | Kuru |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245300 | BTNT | validated | |
| ICD-10 | A81.8 | NTBT | inclusion | validated |
| ICD-11 | 8E01.1 | E | specific | validated |
| MONDO | 0006825 | E | validated | |
| MeSH | D007729 | E | validated | |
| UMLS | C0022802 | E | validated | |
| GARD | 7617 | E | validated | |
| MedDRA | 10023497 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:576360Acquired human prion disease
rare neurological diseases - ORPHA:306695Miscellaneous movement disorder due to neurodegenerative disease
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRNP | Major susceptibility factor in | Assessed | HGNC:9449 | ENSG00000171867 | 176640 | 20p13 | prion protein (Kanno blood group) | 11120925[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2700 cases | Worldwide | Case(s) | Validated | 16798390[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16798390[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/454745
- This record as JSON: /data/d/454745.json