Spinocerebellar ataxia, autosomal recessive 14

Preferred Label : Spinocerebellar ataxia, autosomal recessive 14;

Symbol : SCAR14;

CISMeF acronym : SCAR14; SPARCA1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cerebellar ataxia, autosomal recessive, spectrin-associated, 1; SPARCA1;

Description : Autosomal recessive spinocerebellar ataxia-14 is a neurologic disorder characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability (summary by Lise et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the nonerythrocytic beta-spectrin 2 gene (SPTBN2, 604985.0004);

Prefixed ID : #615386;

Details

Origin ID

615386;

UMLS CUI

C4706415;

Currated CISMeF NLP mapping
- Spectrin-associated autosomal recessive cerebellar ataxia [ORDO Disease]
- Spectrin-associated autosomal recessive cerebellar ataxia (disorder) [SNOMED CT concept]
- autosomal recessive spinocerebellar ataxia 14 [DO Concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 14 [DO Concept]
Genes related to phenotype
- Spectrin, beta, nonerythrocytic, 2 [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cognitive impairment [HPO term]
- Delayed speech and language development [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Gait ataxia [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypometric saccades [HPO term]
- Infantile onset [HPO term]
- Intention tremor [HPO term]
- Jerky ocular pursuit movements [HPO term]
- Nystagmus [HPO term]
- Slowly progressive [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Spectrin-associated autosomal recessive cerebellar ataxia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spectrin-associated autosomal recessive cerebellar ataxia (disorder) [SNOMED CT concept]
- autosomal recessive spinocerebellar ataxia 14 [DO Concept]

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