Congenital cerebellar ataxia due to RNU12 mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare hereditary ataxia characterized by delayed motor milestones in early infancy, hypotonia, ataxic gait, intention tremor, nystagmus, dysarthric speech, and variable learning difficulties. Neuroimaging shows a mixed picture of cerebellar hypoplasia and degeneration, with an almost absent inferior lobule and thinning of the folia of the vermis. In addition, cisterna magna and fourth ventricle are enlarged with relative sparing of the brain stem volume.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital cerebellar ataxia due to RNU12 mutation | |
| fr | Ataxie cérébelleuse congénitale due à une mutation de RNU12 | |
| de | Kongenitale zerebelläre Ataxie durch RNU12-Genmutation | |
| es | Ataxia cerebelosa congénita por una mutación en el gen RNU12 | |
| it | Atassia cerebellare congenita da mutazione di RNU12 | |
| nl | Congenitale cerebellaire ataxie door RNU12-mutatie | |
| pt | Ataxia cerebelosa congénita por mutação RNU12 | |
| pl | Wrodzona ataksja (niezborność) móżdżkowa wywołana mutacją genu RNU12 | |
| cs | Vrozená ataxie mozečku způsobená mutací RNU12 | |
| uk | Вроджена мозочкова атаксія, зумовлена мутацієюї RNU12 | |
| zh | RNU12基因突变所致先天性小脑共济失调 | |
| tr | RNU12 mutasyonuna bağlı doğumsal serebellar ataksi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620208 | E | validated | |
| ICD-10 | G11.0 | NTBT | attributed | validated |
| MONDO | 0033717 | E | validated | |
| UMLS | C5567894 | 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:98095Autosomal recessive congenital cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RNU12 | Disease-causing germline mutation(s) in | Assessed | HGNC:19380 | ENSG00000276027 | 620204 | 22q13.2 | RNA, U12 small nuclear | 27863452[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 27863452[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27863452[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
17 annotations · validated 2018-11-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008936 | Axial hypotonia | |
| HP:0002136 | Broad-based gait | |
| HP:0001272 | Cerebellar atrophy | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0002194 | Delayed gross motor development | |
| HP:0001260 | Dysarthria | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0002359 | Frequent falls | |
| HP:0002066 | Gait ataxia | |
| HP:0001288 | Gait disturbance | |
| HP:0002080 | Intention tremor | |
| HP:0012759 | Neurodevelopmental abnormality | |
| HP:0007010 | Poor fine motor coordination | |
| Occasional (29-5%) | ||
| HP:0001410 | Decreased liver function | |
| HP:0000639 | Nystagmus | |
| Excluded (0%) | ||
| HP:0001273 | Abnormal corpus callosum morphology | |
| HP:0002120 | Cerebral cortical atrophy | |
Annotation source: 27863452[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/512260
- This record as JSON: /data/d/512260.json