ORPHA:401901
Huntington disease-like syndrome due to C9ORF72 expansions
Synonyms: C9ORF72-related Huntington disease phenocopy · C9ORF72-related Huntington disease-like syndrome · Huntington disease phenocopy due to C9ORF72 expansions
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Huntington disease-like syndrome due to C9ORF72 expansions | C9ORF72-related Huntington disease phenocopy · C9ORF72-related Huntington disease-like syndrome · Huntington disease phenocopy due to C9ORF72 expansions |
| fr | Maladie de Huntington-like due à des expansions C9ORF72 | Phénocopie de Huntington due à des expansions C9ORF72 |
| de | Chorea Huntington-ähnliches Syndrom durch C9ORF72-Expansionen | C9ORF72-abhängige Phänokopie der Huntington-Krankheit |
| es | Síndrome similar a la enfermedad de Huntington por expansiones de C9ORF72 | Fenocopia de la enfermedad de Huntington asociada a C9ORF72 · Fenocopia de la enfermedad de Huntington asociada al gen C9ORF72 · Fenocopia de la enfermedad de Huntington por expansiones de C9ORF72 · Síndrome de enfermedad de Huntington-like por expansiones de C9ORF72 · Síndrome similar a la enfermedad de Huntington asociado a C9ORF72 |
| it | Malattia simil-Huntington da espansioni di C9ORF72 | Fenocopia della malattia di Huntington C9ORF72-correlata · Fenocopia della malattia di Huntington da espansioni di C9ORF72 · Sindrome malattia di Huntington-simile correlata a C9ORF72 |
| nl | Ziekte van Huntington-achtig syndroom door C9ORF72-expansies | C9ORF72-gerelateerd ziekte van Huntington-achtig syndroom · C9ORF72-gerelateerde ziekte van Huntington fenocopie |
| pt | Síndrome semelhante à doença de Huntington por expansões C9ORF72 | |
| pl | Zespół podobny do choroby Huntingtona spowodowany ekspansją powtórzeń w genie C9ORF72 | Fenokopia choroby Huntingtona z powodu ekspansji C9ORF72 · Fenokopia choroby Huntingtona związana z C9ORF72 · Zespół podobny do choroby Huntingtona związany z C9ORF72 |
| cs | Huntington disease-like syndrom způsobený expanzemi C9ORF72 | C9ORF72-vázaná huntingtonská fenokopie · C9ORF72-asociovaný Huntigton´s disease-like syndrom · Huntingtonská fenokopie způsobená expanzemi C9ORF72 · Syndrom podobný Huntingtonově chorobě, způsobený expanzemi C9ORF72 · Syndrom podobný Huntingtonově chorobě, asociovaný C9ORF72 |
| uk | Гантінгтон-подібний синдром, зумовлений експансією C9ORF72 | C9ORF72-повязана фенокопія хвороби Хантінгтона · C9ORF72-повязаний синдром, подібний до хвороби Гантінгтона · Фенокопія хвороби Гантінгтона через експансії C9ORF72 |
| zh | C9ORF72扩增导致的亨廷顿病样综合征 | C9ORF72扩展所致亨廷顿病拟表型 |
| tr | C9ORF72 genişlemelerine bağlı Huntington hastalığı-benzeri sendrom | C9ORF72-ilişkili Huntington hastalığı fenokopisi · C9ORF72-ilişkili Huntington hastalığı benzeri sendromu · C9ORF72 genişlemelerine bağlı Huntington hastalığı fenokopisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G10 | NTBT | attributed | validated |
| MONDO | 0018425 | E | validated | |
| UMLS | C5190586 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:276058Genetic neurodegenerative disease with dementia
rare genetic diseases - ORPHA:306719Neurodegenerative disease with chorea
rare genetic diseases; rare neurological diseases - ORPHA:98534Neurodegenerative disease with dementia
rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| C9ORF72 | Disease-causing germline mutation(s) in | Assessed | HGNC:28337 | ENSG00000147894 | 614260 | 9p21.2 | C9orf72-SMCR8 complex subunit | 24363131[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 24363131[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24363131[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.
6
HPO phenotypes
14 annotations · validated 2018-10-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0002072 | Chorea | |
| HP:0100543 | Cognitive impairment | |
| HP:0000719 | Inappropriate behavior | |
| HP:0002354 | Memory impairment | |
| HP:0002063 | Rigidity | |
| Occasional (29-5%) | ||
| HP:0000739 | Anxiety | |
| HP:0000716 | Depression | |
| HP:0001332 | Dystonia | |
| HP:0001300 | Parkinsonism | |
| HP:0000709 | Psychosis | |
| HP:0001337 | Tremor | |
| HP:0002493 | Upper motor neuron dysfunction | |
| Very rare (<4-1%) | ||
| HP:0001336 | Myoclonus | |
Annotation source: 25248608[PMID]_23934648[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401901
- This record as JSON: /data/d/401901.json