ORPHA:93256
Fragile X-associated tremor/ataxia syndrome
Synonyms: FXTAS syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Adult
- Status
- active
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fragile X-associated tremor/ataxia syndrome | FXTAS syndrome |
| fr | Syndrome tremblement-ataxie lié à une prémutation de l'X fragile | Syndrome FXTAS |
| de | Fragiles-X assoziiertes Tremor/Ataxie-Syndrom | FXTAS |
| es | Síndrome de ataxia/temblor asociado al cromosoma X frágil | Síndrome FXTAS |
| it | Sindrome dell'X fragile con tremore/atassia | Sindrome FXTAS |
| nl | Fragiele-X-geassocieerd tremor/ataxie-syndroom | FXTAS-syndroom |
| pt | Síndrome de tremor/ataxia associada ao X frágil | Síndrome FXTAS |
| pl | Zespół drżenia/ataksji związany z łamliwym chromosomem X | Zespół FXTAS |
| cs | Syndrom FXTAS | Syndrom tremoru/ataxie asociovaný s fragilním X |
| uk | Синдром асоційованого з ламкою Х-хромосомою тремору/атаксії | Синдром FXTAS |
| zh | 脆性X相关震颤/共济失调综合征 | FXTAS综合征 |
| tr | Frajil X-ilişkili tremor / ataksi sendromu | FXTAS sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300623 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | index | validated |
| MONDO | 0010382 | E | validated | |
| MeSH | C564105 | E | validated | |
| UMLS | C1839780 | 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:307061Rare genetic tremor disorder
rare genetic diseases - ORPHA:306712Rare tremor disorder
rare neurological diseases - ORPHA:247765X-linked cerebellar ataxia
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FMR1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3775 | ENSG00000102081 | 309550 | Xq27.3 | fragile X messenger ribonucleoprotein 1 |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | United States | Class only | Validated | 15000674[PMID]_17166801[PMID]_ [EXPERT] |
| Lifetime Prevalence | 1-9 / 100 000 | 6.3 / 100 000 | United States | Value and class | Validated | 15000674[PMID]_17166801[PMID]_ [EXPERT] |
| Point prevalence | 1-9 / 100 000 | — | 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
37 annotations · validated 2024-10-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000726 | Dementia | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0030216 | Inertia | |
| HP:0002080 | Intention tremor | |
| HP:0002354 | Memory impairment | |
| Frequent (79-30%) | ||
| HP:0012332 | Abnormal autonomic nervous system physiology | |
| HP:0000713 | Agitation | |
| HP:0000739 | Anxiety | |
| HP:0000722 | Compulsive behaviors | |
| HP:0000716 | Depression | |
| HP:0100275 | Diffuse cerebellar atrophy | |
| HP:0012534 | Dysesthesia | |
| HP:0001265 | Hyporeflexia | |
| HP:0000802 | Impotence | |
| HP:0000737 | Irritability | |
| HP:0007340 | Lower limb muscle weakness | |
| HP:0001324 | Muscle weakness | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0100515 | Pollakisuria | |
| HP:0002172 | Postural instability | |
| HP:0002063 | Rigidity | |
| HP:0012083 | Ubiquitin-positive cerebral inclusion bodies | |
| HP:0002839 | Urinary bladder sphincter dysfunction | |
| Occasional (29-5%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0002607 | Bowel incontinence | |
| HP:0002067 | Bradykinesia | |
| HP:0002015 | Dysphagia | |
| HP:0000822 | Hypertension | |
| HP:0002615 | Hypotension | |
| HP:0000821 | Hypothyroidism | |
| HP:0003326 | Myalgia | |
| HP:0001300 | Parkinsonism | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 20301558[PMID]_24491663[PMID]_18686748[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93256
- This record as JSON: /data/d/93256.json