Spinocerebellar ataxia type 19/22
Synonyms: SCA19/22
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Spinocerebellar ataxia type 19 (SCA19) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by mild cerebellar ataxia, cognitive impairment, low scores on the Wisconsin Card Sorting Test measuring executive function, myoclonus, and postural tremor.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spinocerebellar ataxia type 19/22 | SCA19/22 |
| fr | Ataxie spinocérébelleuse type 19/22 | = en |
| de | Ataxie, spinozerebelläre, Typ 19/22 | SCA19 · SCA19/22 |
| es | Ataxia espinocerebelosa tipo 19/22 | = en |
| it | Atassia spinocerebellare, tipo 19/22 | = en |
| nl | Spinocerebellaire ataxie type 19/22 | = en |
| pt | Ataxia espinocerebelosa tipo 19/22 | = en |
| pl | Ataksja rdzeniowo-móżdżkowa typu 19/22 | Ataksja rdxeniowo-móżdżkowa typu 19/22 |
| cs | Spinocerebelární ataxie, typ 19/22 | = en |
| uk | Спіноцеребеллярна атаксія, тип 19/22 | = en |
| zh | 脊髓小脑共济失调19/22型 | = en |
| tr | Spinoserebellar ataksi tipi 19/22 | SCA19 / 22 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607346 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| ICD-11 | 8A03.16 | BTNT | index | validated |
| MONDO | 0011819 | E | validated | |
| MeSH | C537198 | E | validated | |
| UMLS | C5235656 | E | validated | |
| GARD | 12365 | 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:98746Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:101107Spinocerebellar ataxia type 22 moved to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCND3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6239 | ENSG00000171385 | 605411 | 1p13.2 | potassium voltage-gated channel subfamily D member 3 | 22890214[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| 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
19 annotations · validated 2018-04-27| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0001288 | Gait disturbance | |
| Frequent (79-30%) | ||
| HP:0001272 | Cerebellar atrophy | |
| HP:0001347 | Hyperreflexia | |
| HP:0001265 | Hyporeflexia | |
| HP:0006938 | Impaired vibration sensation at ankles | |
| HP:0002070 | Limb ataxia | |
| HP:0002172 | Postural instability | |
| HP:0002078 | Truncal ataxia | |
| HP:0000020 | Urinary incontinence | |
| Occasional (29-5%) | ||
| HP:0002136 | Broad-based gait | |
| HP:0002396 | Cogwheel rigidity | |
| HP:0000651 | Diplopia | |
| HP:0001260 | Dysarthria | |
| HP:0007772 | Impaired smooth pursuit | |
| HP:0000639 | Nystagmus | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0002370 | Poor coordination | |
| HP:0001350 | Slurred speech | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 23280837[PMID]_12764052[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98772
- This record as JSON: /data/d/98772.json