ORPHA:94145

Autosomal dominant cerebellar ataxia type I

Synonyms: ADCA1 · ADCAI · Autosomal dominant cerebellar ataxia type 1 · Cerebellar plus syndrome

Type: Clinical group
Group: Group of disorders
Inheritance: Autosomal dominant
Age of onset: All ages
Status: active

A group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal dominant cerebellar ataxia type I	ADCA1 · ADCAI · Autosomal dominant cerebellar ataxia type 1 · Cerebellar plus syndrome
fr	Ataxie cérébelleuse autosomique dominante type I	ADCAI · Ataxie cérébelleuse autosomique dominante type 1 · ADCA1
de	Ataxie, zerebelläre, autosomal-dominante, Typ I	ADCA1 · ADCAI · Ataxie, zerebelläre, autosomal-dominante, Typ 1 · Cerebellar plus-Syndrom
es	Ataxia cerebelosa autosómica dominante tipo I	ADCA1 · ADCAI · Ataxia cerebelosa autosómica dominante tipo 1 · Síndrome cerebeloso plus
it	Atassia cerebellare autosomica dominante, tipo 1	ADCA1 · ADCAI · Atassia cerebellare autosomica dominante, tipo I · Sindrome cerebellare plus
nl	Autosomaal dominante cerebellaire ataxie type I	ADCA1 · ADCAI · Autosomaal dominante cerebellaire ataxie type 1 · Cerebellair plus syndroom
pt	Ataxia cerebelosa autossómica dominante tipo I	ADCA1
pl	Autosomalna dominująca ataksja móżdżkowa typu I	ADCA1 · ADCAI · Zespół móżdżkowy plus · Autosomalna dominująca ataksja móżdżkowa typu 1
cs	Autozomálně dominantní cerebelární ataxie, typ 1	ADCA1 · ADCAI · Autozomálně dominantní cerebelární ataxie, typ I
uk	Аутосомно-домінантна мозочкова атаксія, тип I	ADCA1 · ADCAI · Аутосомно-домінантна мозочкова атаксія типу 1 · Синдром мозочок плюс
zh	常染色体显性遗传性小脑共济失调I型	常染色体显性遗传性遗传性小脑共济失调1型
tr	Otozomal dominant serebellar ataksi tip I	ADCA1 · ADCAI · Serebellar artı sendromu · Otozomal dominant serebellar ataksi tip 1

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
MONDO	0019792	E		validated
UMLS	C5680259	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 (34):

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	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

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/94145
This record as JSON: /data/d/94145.json