ORPHA:94148

Autosomal dominant cerebellar ataxia type III

Synonyms: ADCA3 · ADCAIII · Autosomal dominant cerebellar ataxia type 3 · Pure cerebellar syndrome-mild pyramidal signs syndrome

Type: Clinical group
Group: Group of disorders
Inheritance: Autosomal dominant
Age of onset: Adolescent, Adult, Childhood, Elderly
Status: active

A group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal dominant cerebellar ataxia type III	ADCA3 · ADCAIII · Autosomal dominant cerebellar ataxia type 3 · Pure cerebellar syndrome-mild pyramidal signs syndrome
fr	Ataxie cérébelleuse autosomique dominante type III	ADCA3 · ADCAIII · Ataxie cérébelleuse autosomique dominante type 3 · Syndrome cérébelleux pur-signes pyramidaux modérés
de	Ataxie, zerebelläre, autosomal-dominante, Typ III	ADCA3 · ADCAIII · Ataxie, zerebelläre, autosomal-dominante, Typ 3 · Rein Zerebelläres Syndrom - milde pyramidale Störungen · Reines zerebelläres Syndrom mit milden pyramidalen Störungen
es	Ataxia cerebelosa autosómica dominante tipo III	ADCA3 · ADCAIII · Ataxia cerebelosa autosómica dominante tipo 3 · Síndrome cerebeloso puro-síndrome de signos piramidales leves
it	Atassia cerebellare autosomica dominante, tipo 3	ADCA3 · ADCAIII · Atassia cerebellare autosomica dominante, tipo III · Sindrome cerebellare pura - lievi segni piramidali
nl	Autosomaal dominante cerebellaire ataxie type III	ADCA3 · ADCAIII · Autosomaal dominante cerebellaire ataxie type 3 · Zuiver cerebellair syndroom - syndroom met milde piramidale tekenen
pt	Ataxia cerebelosa autossómica dominante tipo III	ADCA3
pl	Autosomalna dominująca ataksja móżdżkowa typu III	ADCA3 · ADCAIII · Autosomalna dominująca ataksja móżdżkowa typu 3 · Czysty zespół móżdżkowy - zespół łagodnych objawów piramidowych
cs	Autozomálně dominantní cerebelární ataxie, typ 3	ADCA3 · ADCAIII · Autozomálně dominantní cerebelární ataxie, typ III · Syndrom zahrnující čistý cerebelární syndrom a mírné pyramidové příznaky
uk	Аутосомно-домінантна мозочкова атаксія, тип III	ADCA3 · ADCAIII · Аутосомно-домінантна мозочкова атаксія типу 3 · Чистий мозочковий синдром - синдром легких пірамідних знаків
zh	常染色体显性遗传性小脑共济失调III型	单纯小脑综合征-轻度锥体征综合征
tr	Otozomal dominant serebellar ataksi tip III	ADCA3 · ADCAIII · Otozomal baskın serebellar ataksi tip 3 · Saf serebellar sendrom-hafif piramidal belirtiler sendromu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	0019793	E		validated
UMLS	C5680260	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):

ORPHA:98006Rare neurologic disease

Parents in the classifications (1):

ORPHA:99Autosomal dominant cerebellar ataxia
rare genetic diseases; rare neurological diseases

Children (11):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	24225362[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

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/94148
This record as JSON: /data/d/94148.json