Non-progressive cerebellar ataxia with intellectual disability
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-progressive cerebellar ataxia with intellectual disability | |
| fr | Ataxie cérébelleuse non progressive avec déficience intellectuelle | |
| de | Zerebelläre Ataxie, nicht-progressive, mit Intelligenzminderung | CANPMR |
| es | Ataxia cerebelosa no progresiva con discapacidad intelectual | |
| it | Atassia cerebellare non progressiva con disabilità cognitiva | |
| nl | Niet-progressieve cerebellaire ataxie met intellectuele achterstand | |
| pt | Ataxia cerebelosa não-progressiva com perturbação do desenvolvimento intelectual | |
| pl | Niepostępująca ataksja móżdżkowa z niepełnosprawnością intelektualną | |
| cs | Neprogresivní cerebelární ataxie s mentální retardací | |
| uk | Непрогресуюча мозочкова атаксія з інтелектуальною недостатністю | |
| zh | 非进行性小脑共济失调伴智力障碍 | |
| tr | Zihinsel yetersizlik ile seyreden ilerleyici olmayan serebellar ataksi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614756 | BTNT | validated | |
| OMIM | 619352 | BTNT | validated | |
| ICD-10 | G11.0 | NTBT | attributed | validated |
| MONDO | 0013886 | E | validated | |
| UMLS | C4509917 | 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:94145Autosomal dominant cerebellar ataxia type I
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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CAMTA1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18806 | ENSG00000171735 | 611501 | 1p36.31-p36.23 | calmodulin binding transcription activator 1 | 22693284[PMID] |
| POU4F1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9218 | ENSG00000152192 | 601632 | 13q31.1 | POU class 4 homeobox 1 | 33783914[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 22693284[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
39 annotations · validated 2018-02-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0001256 | Intellectual disability, mild | |
| Frequent (79-30%) | ||
| HP:0002536 | Abnormal cortical gyration | |
| HP:0012433 | Abnormal social behavior | |
| HP:0000718 | Aggressive behavior | |
| HP:0000463 | Anteverted nares | |
| HP:0001251 | Ataxia | |
| HP:0000729 | Autistic behavior | |
| HP:0000414 | Bulbous nose | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0002019 | Constipation | |
| HP:0000490 | Deeply set eye | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001260 | Dysarthria | |
| HP:0001310 | Dysmetria | |
| HP:0011166 | Focal myoclonic seizure | |
| HP:0000276 | Long face | |
| HP:0000343 | Long philtrum | |
| HP:0002354 | Memory impairment | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0002470 | Nonprogressive cerebellar ataxia | |
| HP:0000307 | Pointed chin | |
| HP:0000486 | Strabismus | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0002317 | Unsteady gait | |
| HP:0000445 | Wide nose | |
| Very rare (<4-1%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0001348 | Brisk reflexes | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0025517 | Hypoplastic hippocampus | |
| HP:0002080 | Intention tremor | |
| HP:0002003 | Large forehead | |
| HP:0000256 | Macrocephaly | |
| HP:0011067 | Mesiodens | |
| HP:0000160 | Narrow mouth | |
| HP:0100540 | Palpebral edema | |
| HP:0400005 | Short ear | |
| Excluded (0%) | ||
| HP:0000639 | Nystagmus | |
| HP:0002403 | Positive Romberg sign | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 22693284[PMID]_24145135[PMID]_24738973[PMID]_17470457[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/314647
- This record as JSON: /data/d/314647.json