Cerebellar ataxia, Cayman type
Synonyms: Cayman ataxia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebellar ataxia, Cayman type | Cayman ataxia |
| fr | Ataxie cérébelleuse type Caïman | Ataxie type Caïman |
| de | Zerebelläre Ataxie Typ Cayman | Cayman-Ataxie |
| es | Ataxia cerebelosa tipo Cayman | |
| it | Atassia cerebellare tipo Cayman | Atassia, tipo Cayman |
| nl | Cerebellaire ataxie, Cayman-type | Cayman-ataxie |
| pt | Ataxia cerebelosa, tipo Cayman | Ataxia de Cayman |
| pl | Ataksja móżdżkowa, typu Caymana | Ataksja Caymana |
| cs | Cerebelární ataxie, kajmanský typ | Kajmanská ataxie |
| uk | Мозочкова атаксія, тип Каймана | Кайманова атаксія |
| zh | 小脑性共济失调，Cayman型 | Cayman共济失调 |
| tr | Serebellar ataksi, Cayman tipi | Cayman ataksisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601238 | E | validated | |
| ICD-10 | G11.0 | NTBT | attributed | validated |
| MONDO | 0011025 | E | validated | |
| UMLS | C1832585 | 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 |
|---|---|---|---|---|---|---|---|---|
| ATCAY | Disease-causing germline mutation(s) in | Assessed | HGNC:779 | ENSG00000167654 | 608179 | 19p13.3 | ATCAY kinesin light chain interacting caytaxin | 20301317[PMID]_14556008[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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.
HPO phenotypes
11 annotations · validated 2018-05-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002470 | Nonprogressive cerebellar ataxia | |
| Frequent (79-30%) | ||
| HP:0002136 | Broad-based gait | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001260 | Dysarthria | |
| HP:0002066 | Gait ataxia | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0002080 | Intention tremor | |
| HP:0000639 | Nystagmus | |
| HP:0002078 | Truncal ataxia | |
| Excluded (0%) | ||
| HP:0000479 | Abnormal retinal morphology | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 8845847[PMID]_14556008[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/94122
- This record as JSON: /data/d/94122.json