Spinocerebellar ataxia 27a

Preferred Label : Spinocerebellar ataxia 27a;

Symbol : SCA27A;

CISMeF acronym : NYS4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Vestibulocerebellar disorder with predominant ocular signs; Cerebellar ataxia, autosomal dominant, fgf14-related; NYS4; Nystagmus 4, congenital, autosomal dominant; SCA27; Spinocerebellar ataxia 27;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700).;

Inheritance : Autosomal dominant;

Prefixed ID : #193003;

Details

Origin ID

193003;

UMLS CUI

C1836383;

Broader ORDO disease(s)
- Congenital idiopathic nystagmus [ORDO Disease]
Currated CISMeF NLP mapping
- Nystagmus 4, congenital, autosomal dominant [MeSH concept]
- nystagmus 4, congenital, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- congenital nystagmus 4 [DO Concept]
Genes related to phenotype
- Fibroblast growth factor 14 [OMIM gene]
HPO term(s)
- Abnormal vestibulo-ocular reflex [HPO term]
- Absent smooth pursuit [HPO term]
- Autosomal dominant inheritance [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Impaired smooth pursuit [HPO term]
- Nonprogressive [HPO term]
- Strabismus [HPO term]
- Upbeat nystagmus [HPO term]
ORDO concept(s)
- Congenital idiopathic nystagmus [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nystagmus 4, congenital, autosomal dominant [MeSH concept]
- Spinocerebellar ataxia 27 [MeSH concept]
- Spinocerebellar ataxia type 27 [ICD-11 More detail]
- Spinocerebellar ataxia type 27 [ORDO Disease]
- Spinocerebellar ataxia type 27 (disorder) [SNOMED CT concept]
- nystagmus 4, congenital, autosomal dominant [MeSH Supplementary Concept]
- spinocerebellar ataxia 27 [MeSH Supplementary Concept]
- spinocerebellar ataxia 27 [Disease (Nov.)]
Validated automatic mappings to NTBT
- Congenital idiopathic nystagmus [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients