ORPHA:363710

Spinocerebellar ataxia type 37

Synonyms: SCA37 · Spinocerebellar ataxia with altered vertical eye movements

An autosomal dominant cerebellar ataxia type 1 that is characterized by a cerebellar syndrome along with altered vertical eye movements.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Spinocerebellar ataxia type 37	SCA37 · Spinocerebellar ataxia with altered vertical eye movements
fr	Ataxie spinocérébelleuse type 37	Ataxie spinocérébelleuse avec mouvements oculaires verticaux anormaux · SCA37
de	Ataxie, spinozerebelläre, Typ 37	SCA37 · Spinozerebelläre Ataxie mit veränderten vertikalen Augenbewegungen
es	Ataxia espinocerebelosa tipo 37	Ataxia espinocerebelosa con los movimientos oculares verticales alterados · SCA37
it	Atassia spinocerebellare tipo 37	Atassia spinocerebellare con alterazione dei movimenti oculari verticali · SCA37
nl	Spinocerebellaire ataxie type 37	SCA37 · Spinocerebellaire ataxie met gewijzigde verticale oogbewegingen
pt	Ataxia espinocerebelosa tipo 37	Ataxia espinocerebelosa com movimentos oculares verticais anómalos · SCA37
pl	Ataksja móżdżkowo-rdzeniowa typu 37	Ataksja móżdżkowo-rdzeniowa ze zmienionymi pionowymi ruchami gałek ocznych · SCA37
cs	Spinocerebelární ataxie, typ 37	SCA37 · Spinocerebelární ataxie s alterovanými vertikálními pohyby očí
uk	Спіноцеребеллярна атаксія, тип 37	SCA37 · Спіноцеребелкова атаксія зі зміненими вертикальними рухами очей
zh	脊髓小脑共济失调37型	脊髓小脑性共济失调伴垂直眼球运动改变
tr	Spinoserebellar ataksi tip 37	SCA37 · Dikey göz hareketi değişiklikleri ile seyreden spinoserebellar ataksi

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	615945	E		validated
ICD-10	G11.8	NTBT	attributed	validated
ICD-11	8A03.16	NTBT	attributed	validated
MONDO	0014410	E		validated
UMLS	C3889636	E		validated
GARD	12368	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.

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
DAB1	Disease-causing germline mutation(s) in	Assessed	HGNC:2661	ENSG00000173406	603448	1p32.2	DAB adaptor protein 1	28686858[PMID]
SCA37	Disease-causing germline mutation(s) in	Assessed	HGNC:43726			1p32	spinocerebellar ataxia 37	23700170[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		9 cases	Worldwide	Case(s)	Validated	23700170[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	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.

16 annotations · validated 2017-11-13

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000549	Abnormal conjugate eye movement
HP:0002396	Cogwheel rigidity
HP:0002527	Falls
Frequent (79-30%)
HP:0002167	Abnormality of speech or vocalization
HP:0006855	Cerebellar vermis atrophy
HP:0100275	Diffuse cerebellar atrophy
HP:0002075	Dysdiadochokinesis
HP:0001288	Gait disturbance
HP:0000666	Horizontal nystagmus
HP:0002406	Limb dysmetria
HP:0001336	Myoclonus
HP:0002168	Scanning speech
HP:0000407	Sensorineural hearing impairment
HP:0003474	Somatic sensory dysfunction
HP:0001337	Tremor
HP:0002078	Truncal ataxia

Annotation source: 23700170[PMID]