Spinocerebellar ataxia 29

Preferred Label : Spinocerebellar ataxia 29;

Symbol : SCA29;

CISMeF acronym : ACV; CNPCA; SCA29;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebellar vermis aplasia; Aplasia of cerebellar vermis; CNPCA; ACV; Cerebellar ataxia, congenital nonprogressive, autosomal dominant;

Description : Spinocerebellar ataxia-29 is an autosomal dominant neurologic disorder characterized by onset in infancy of delayed motor development and mild cognitive delay. Affected individuals develop a very slowly progressive or nonprogressive gait and limb ataxia associated with cerebellar atrophy on brain imaging. Additional variable features include nystagmus, dysarthria, and tremor (summary by Huang et al., 2012). Heterozygous mutation in the ITPR1 gene also causes SCA15 (606658), which is distinguished by later age at onset and normal cognition. For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the inositol 1,4,5-triphosphate receptor 1 gene (ITPR1, 147265.0003);

Prefixed ID : #117360;

Details

Origin ID

117360;

UMLS CUI

C1861732;

Automatic exact mappings (from CISMeF team)
- ACV protocol [MeSH Supplementary Concept]
- Acyclovir [NCIt concept]
- Agenesis of cerebellar vermis [HPO term]
- Airway closing volume, function (observable entity) [SNOMED CT concept]
- Before Dinner [NCIt concept]
- ITPR1 wt Allele [NCIt concept]
- acyclovir [MeSH Descriptor]
- cerebrovascular accident, nos [SNOMED Notion]
- inositol 1,4,5-trisphosphate receptor type 1 [ORDO Gene]
- stroke [MeSH Descriptor]
Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type III [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia type 29 [ICD-11 More detail]
- Spinocerebellar ataxia type 29 [ORDO Disease]
- Spinocerebellar ataxia type 29 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 29 [MeSH concept]
- spinocerebellar ataxia 29 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 29 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 29 [DO Concept]
Genes related to phenotype
- Inositol 1,4,5-triphosphate receptor, type 1 [OMIM gene]
HPO term(s)
- Atrophy of cerebellar vermis [HPO term]
- Atrophy of the cerebellar vermis on mri [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad-based gait [HPO term]
- Cerebellar vermis atrophy [HPO term]
- Cerebellar vermis hypoplasia [HPO term]
- Congenital onset [HPO term]
- Delayed ability to walk [HPO term]
- Delayed gross motor development [HPO term]
- Delayed speech and language development [HPO term]
- Diffuse cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Focal impaired awareness seizure [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Impaired tandem gait [HPO term]
- Infantile onset [HPO term]
- Intellectual disability, mild [HPO term]
- Intention tremor [HPO term]
- Limb ataxia [HPO term]
- Motor delay [HPO term]
- Nonprogressive cerebellar ataxia [HPO term]
- Nystagmus [HPO term]
- Truncal titubation [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 29 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia type 29 [ORDO Disease]
- Spinocerebellar ataxia type 29 [ICD-11 More detail]
- Spinocerebellar ataxia type 29 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 29 [MeSH Supplementary Concept]
- spinocerebellar ataxia 29 [MeSH concept]
- spinocerebellar ataxia type 29 [DO Concept]

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