Parkinson-dementia complex of Guam
Synonyms: G-PDC · Guam disease · Guam parkinsonism-dementia complex · Lytico-Bodig disease
- Type
- Disease
- Group
- Disorder
- Status
- active
A rare neurodegenerative disease characterized by extrapyramidal symptoms (rigidity, tremor, bradykinesia) and dementia, typically beginning in the fifth or sixth decade of life and progressing to a vegetative state with pelvicrural flexion contractures within few years. Oculomotor signs, olfactory dysfunction, and autonomic disturbances may also be observed. Neuropathological hallmarks are frontotemporally accentuated cerebral atrophy, as well as neurofibrillary tangles and neuronal loss in a characteristic distribution in cortical and subcortical regions. The disease is endemic to the Pacific island of Guam.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Parkinson-dementia complex of Guam | G-PDC · Guam disease · Guam parkinsonism-dementia complex · Lytico-Bodig disease |
| fr | Complexe Parkinson-démence de Guam | Complexe parkinsonisme-démence de Guam · Maladie de Guam · Maladie de Lytico-Bodig |
| de | Guam-Parkinson-Demenz-Komplex | G-PDC · Guam-Krankheit · Lytico-Bodig-Krankheit |
| es | Complejo Parkinson-demencia de Guam | Compejo parkinsonismo-demencia de Guam · Enfermedad 'Lytico-Bodig' · Enfermedad de Guam |
| it | Complesso Parkinson-demenza di Guam | Complesso parkinsonismo-demenza di Guam · G-PDC · Malattia "Lytico-bodig" · Malattia di Guam |
| nl | Parkinson - dementie-complex van Guam | G-PDC · Parkinsonisme - dementie-complex van Guam · Ziekte van Guam · Ziekte van Lytico-Bodig |
| pt | Complexo de Parkinson-demência de Guam | |
| pl | Kompleks stwardnienie zanikowe boczne -parkinsonizm-demencja | Choroba Guama · Choroba Lytico i Bodiga · Kompleks parkinsonizm-demencja-ALS · PDALS · Stwardnienie zanikowe boczne -parkinsonizm-demencja Guama |
| cs | Komplex zahrnující amyotrofickou laterální sklerózu, parkinsonismus a demenci | Amyotrofická laterální skleróza, parkinsonismus a demence u nemoci ostrova Guam · Nemoc ostrova Guam · Lytico-Bodig syndrom · PDALS · Komplex zahrnující parkinsonismus, demenci a ALS · Guamská forma ALS |
| uk | Комплекс паркінсонізму та деменції Гуаму | G-PDC · Гуамська хвороба · Гуамський комплекс паркінсонізму та деменції · Хвороба Літіко-Бодіга |
| zh | 肌萎缩侧索硬化症-帕金森症-痴呆综合征 | 肌萎缩性脊髓侧索硬化-帕金森症-Guam痴呆综合征 |
| tr | Amyotrofik lateral skleroz-parkinsonizm-demans kompleksi | PDALS · Guam hastalığı · Lytico-Bodig hastalığı · Parkinsonizm-demans-ALS kompleksi · Amiyotrofik lateral skleroz-parkinsonizm-Guam sendromu demansı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 105500 | E | validated | |
| ICD-10 | G12.2 | NTBT | attributed | validated |
| ICD-11 | 6D85.Y | NTBT | index | validated |
| MONDO | 0007104 | E | validated | |
| UMLS | C0543859 | E | validated | |
| GARD | 9239 | 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 (1):
- ORPHA:98534Neurodegenerative disease with dementia
rare neurological diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PARK7 | Major susceptibility factor in | Not yet assessed | HGNC:16369 | ENSG00000116288 | 602533 | 1p36.23 | Parkinsonism associated deglycase | |
| TRPM7 | Major susceptibility factor in | Not yet assessed | HGNC:17994 | ENSG00000092439 | 605692 | 15q21.2 | transient receptor potential cation channel subfamily M member 7 |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90020
- This record as JSON: /data/d/90020.json