X-linked spinocerebellar ataxia type 3
Synonyms: SCAX3 · X-linked ataxia-deafness syndrome · X-linked ataxia-hearing loss syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described in one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked spinocerebellar ataxia type 3 | SCAX3 · X-linked ataxia-deafness syndrome · X-linked ataxia-hearing loss syndrome |
| fr | Ataxie spinocérébelleuse liée à l'X type 3 | SCAX3 · Syndrome d'ataxie-surdité lié à l'X |
| de | Ataxie, spinozerebelläre X-chromosomale, Typ 3 | Ataxie-Schwerhörigkeit-Syndrom, X-chromosomales · SCAX3 |
| es | Ataxia espinocerebelosa ligada al cromosoma X tipo 3 | SCAX3 · Síndrome de hipoacusia-ataxia ligada al cromosoma X · Síndrome de sordera-ataxia ligada al cromosoma X |
| it | Atassia spinocerebellare legata all'X, tipo 3 | SCAX3 · Sindrome atassia- sordità, legata all'X |
| nl | X-gebonden spinocerebellaire ataxie type 3 | SCAX3 · X-gebonden ataxie - doofheid-syndroom · X-gebonden ataxie - gehoorverlies-syndroom |
| pt | Ataxia espinocerebelosa ligada ao X tipo 3 | |
| pl | Ataksja rdzeniowo-móżdżkowa typu 3 sprzężona z chromosomem X | SCAX3 · Zespół ataksja sprzężona z chromosomem X - głuchota |
| cs | X-vázaná spinocerebelární ataxie, typ 3 | SCAX3 · X-vázaný syndrom zahrnující ataxii a hluchotu |
| uk | Х-зчеплена спіноцеребеллярна атаксія, тип 3 | SCAX3 · Х-зчеплений синдром атаксії-глухоти · Х-зчеплений синдром атаксії та втрати слуху |
| zh | X连锁脊髓小脑共济失调3型 | X-连锁共济失调-听力丧失综合征 |
| tr | X'e bağlı spinoserebellar ataksi tip 3 | SCAX3 · X'e bağlı ataksi sağırlık sendromu · X'e bağlı ataksi işitme kaybı sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301790 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | index | validated |
| MONDO | 0010529 | E | validated | |
| MeSH | C537315 | E | validated | |
| UMLS | C1844936 | E | validated | |
| GARD | 9981 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:247765X-linked cerebellar ataxia
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 3614654[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3614654[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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0000565 | Esotropia | |
| HP:0001263 | Global developmental delay | |
| HP:0001252 | Hypotonia | |
| HP:0000648 | Optic atrophy | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85297
- This record as JSON: /data/d/85297.json