ORPHA:631103

Spinocerebellar ataxia type 48

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Spinocerebellar ataxia type 48
fr	Ataxie spinocérébelleuse type 48
de	Ataxie, spinozerebelläre, Typ 48
es	Ataxia espinocerebelosa tipo 48
it	Atassia spinocerebellare tipo 48
nl	Spinocerebellaire ataxie type 48
pt	Ataxia espinhocerebelosa tipo 48
pl	Ataksja rdzeniowo-móżdżkowa typu 48
cs	Spinocerebelární ataxie, typ 48
uk	Спіноцеребеллярна атаксія, тип 48

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618093	E		validated
ICD-10	G11.4	NTBT	attributed	validated
ICD-11	8A03.16	NTBT	attributed	validated
MONDO	0032526	E		validated
UMLS	C5816773	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
STUB1	Disease-causing germline mutation(s) in	Assessed	HGNC:11427	ENSG00000103266	607207	16p13.3	STIP1 homology and U-box containing protein 1	30381368[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		50 cases	Worldwide	Case(s)	Validated	34070858[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	34070858[PMID]_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.

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