X-linked non progressive cerebellar ataxia
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
X-linked non progressive cerebellar ataxia is a rare hereditary ataxia characterized by delayed early motor development, severe neonatal hypotonia, non-progressive ataxia and slow eye movements, presenting normal cognitive abilities and absence of pyramidal signs. Frequently patients also manifest intention tremor, mild dysphagia, and dysarthria. Brain MRI reveals global cerebellar atrophy with absence of other malformations or degenerations of the central and peripheral nervous systems.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked non progressive cerebellar ataxia | |
| fr | Ataxie cérébelleuse liée à l'X non progressive | |
| de | Ataxie, zerebelläre, nicht-progressive, X-chromosomale | |
| es | Ataxia cerebelosa no progresiva ligada al cromosoma X | |
| it | Atassia cerebellare non progressiva legata all'X | |
| nl | X-gebonden niet-progressieve cerebellaire ataxie | |
| pt | Ataxia cerebelosa não progressiva ligada ao X | |
| pl | Niepostępująca ataksja móżdżkowa sprzężona z chromosomem X | SCAX5 · Ataksja rdzeniowo-móżdżkowa typu 5 sprzężona z chromosomem X |
| cs | X-vázaná neprogresivní cerebelární ataxie | |
| uk | Х-зчеплена непрогресуюча мозочкова атаксія | |
| zh | X连锁非进行性小脑共济失调 | |
| tr | X'e bağlı ilerleyici olmayan serebellar ataksi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300703 | NTBT | validated | |
| OMIM | 302500 | NTBT | validated | |
| ICD-10 | G11.0 | NTBT | attributed | validated |
| MONDO | 0010404 | E | validated | |
| UMLS | C4707849 | 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:247765X-linked cerebellar ataxia
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP2B3 | Disease-causing germline mutation(s) in | Assessed | HGNC:816 | ENSG00000067842 | 300014 | Xq28 | ATPase plasma membrane Ca2+ transporting 3 |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 families | Worldwide | Family(ies) | Validated | 18241076[PMID]_22912398[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
16 annotations · validated 2018-05-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002470 | Nonprogressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0002345 | Action tremor | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0002312 | Clumsiness | |
| HP:0002359 | Frequent falls | |
| HP:0008935 | Generalized neonatal hypotonia | |
| HP:0002080 | Intention tremor | |
| HP:0001270 | Motor delay | |
| HP:0001152 | Saccadic smooth pursuit | |
| HP:0002464 | Spastic dysarthria | |
| HP:0000486 | Strabismus | |
| HP:0002078 | Truncal ataxia | |
| HP:0002317 | Unsteady gait | |
| Excluded (0%) | ||
| HP:0003487 | Babinski sign | |
| HP:0001249 | Intellectual disability | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 22912398[PMID]_10797423[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314978
- This record as JSON: /data/d/314978.json