Spinocerebellar ataxia, autosomal recessive 15

Preferred Label : Spinocerebellar ataxia, autosomal recessive 15;

Symbol : SCAR15;

CISMeF acronym : SCAR15;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Salih ataxia;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the KIAA0226 gene (KIAA0226, 613516.0001);

Prefixed ID : #615705;

Details

Origin ID

615705;

UMLS CUI

C3810326;

Automatic exact mappings (from CISMeF team)
- RUBCN wt Allele [NCIt concept]
- autosomal recessive spinocerebellar ataxia 15 [DO Concept]
Currated CISMeF NLP mapping
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder) [SNOMED CT concept]
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency [ORDO Disease]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 15 [DO Concept]
Genes related to phenotype
- Run domain- and cysteine-rich domain-containing beclin-1-interacting protein [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Delayed ability to walk [HPO term]
- Delayed speech and language development [HPO term]
- Dysarthria [HPO term]
- Gait ataxia [HPO term]
- Global developmental delay [HPO term]
- Hyporeflexia of lower limbs [HPO term]
- Hyporeflexia of upper limbs [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, mild [HPO term]
- Lower limb hyperreflexia [HPO term]
- Motor delay [HPO term]
- Nystagmus [HPO term]
- Progressive [HPO term]
- Saccadic smooth pursuit [HPO term]
- Seizure [HPO term]
- Unsteady gait [HPO term]
ORDO concept(s)
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to RUN and cysteine rich domain containing beclin 1 interacting protein deficiency (disorder) [SNOMED CT concept]
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency [ORDO Disease]

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