Spinocerebellar ataxia, autosomal recessive 16

Preferred Label : Spinocerebellar ataxia, autosomal recessive 16;

Symbol : SCAR16;

CISMeF acronym : SCAR16;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the STIP1 homologous and U box-containing protein 1 gene (STUB1, 607207.0001);

Prefixed ID : #615768;

Détails

Origin ID

615768;

UMLS CUI

C5190574;

CISMeF manual mappings
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency (disorder) [SNOMED CT concept]
- Spinocerebellar Ataxia Type 16 [NCIt concept]
- Spinocerebellar ataxia type 16 [ICD-11 More detail]
- autosomal recessive spinocerebellar ataxia 16 [DO Concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 16 [DO Concept]
Genes related to phenotype
- Stip1 homologous and u box-containing protein 1 [OMIM gene]
HPO term(s)
- Ankle clonus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cognitive impairment [HPO term]
- Dysarthria [HPO term]
- External ophthalmoplegia [HPO term]
- Hyperreflexia [HPO term]
- Hypogonadism [HPO term]
- Limb ataxia [HPO term]
- Nystagmus [HPO term]
- Progressive [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
- Truncal ataxia [HPO term]
- Unsteady gait [HPO term]
ORDO concept(s)
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency (disorder) [SNOMED CT concept]
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency [ORDO Disease]
- Spinocerebellar Ataxia Type 16 [NCIt concept]
- Spinocerebellar ataxia type 16 [ICD-11 More detail]

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