ORPHA:631095

Spinocerebellar ataxia type 44

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	Spinocerebellar ataxia type 44
fr	Ataxie spinocérébelleuse type 44
de	Ataxie, spinozerebelläre, Typ 44
es	Ataxia espinocerebelosa tipo 44
it	Atassia spinocerebellare tipo 44
nl	Spinocerebellaire ataxie type 44
pt	Ataxia espinhocerebelosa tipo 44
pl	Ataksja rdzeniowo-móżdżkowa typu 44
cs	Spinocerebelární ataxie, typ 44
uk	Спіноцеребеллярна атаксія, тип 44

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	617691	E		validated
ICD-10	G11.4	NTBT	attributed	validated
ICD-11	8A03.16	NTBT	attributed	validated
MONDO	0033479	E		validated
UMLS	C5816774	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
GRM1	Disease-causing germline mutation(s) in	Assessed	HGNC:4593	ENSG00000152822	604473	6q24.3	glutamate metabotropic receptor 1	28886343[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		7 cases	Worldwide	Case(s)	Validated	28886343[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	28886343[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.