ORPHA:631106

Spinocerebellar ataxia type 49

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Spinocerebellar ataxia type 49
fr	Ataxie spinocérébelleuse type 49
de	Ataxie, spinozerebelläre, Typ 49
es	Ataxia espinocerebelosa tipo 49
it	Atassia spinocerebellare tipo 49
nl	Spinocerebellaire ataxie type 49
pt	Ataxia espinhocerebelosa tipo 49
pl	Ataksja rdzeniowo-móżdżkowa typu 49
cs	Spinocerebelární ataxie, typ 49
uk	Спіноцеребеллярна атаксія, тип 49

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	619806	E		validated
ICD-10	G11.4	NTBT	attributed	validated
ICD-11	8A03.16	NTBT	attributed	validated
MONDO	0030805	E		validated
UMLS	C5816772	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
SAMD9L	Disease-causing germline mutation(s) in	Assessed	HGNC:1349	ENSG00000177409	611170	7q21.2	sterile alpha motif domain containing 9 like	35310830[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		9 cases	Worldwide	Case(s)	Validated	35310830[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	35310830[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.