Spinocerebellar ataxia, autosomal recessive 23

Preferred Label : Spinocerebellar ataxia, autosomal recessive 23;

Symbol : SCAR23;

CISMeF acronym : SCAR23;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tyrosyl-DNA phosphodiesterase 2 gene (TDP2, 605764.0001);

Laboratory abnormalities : Hyponatremia; High lactate/pyruvate ratio;

Prefixed ID : #616949;

Détails

Origin ID

616949;

UMLS CUI

C4750914;

CISMeF manual mappings
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) [SNOMED CT concept]
- autosomal recessive spinocerebellar ataxia 23 [DO Concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 23 [DO Concept]
Genes related to phenotype
- Tyrosyl-dna phosphodiesterase 2 [OMIM gene]
HPO term(s)
- Arrhythmia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Easy fatigability [HPO term]
- Generalized hypotonia [HPO term]
- Hypersomnia [HPO term]
- Hyponatremia [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Neutropenia [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD 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 TUD deficiency (disorder) [SNOMED CT concept]
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency [ORDO Disease]

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