Spinocerebellar ataxia 42

Preferred Label : Spinocerebellar ataxia 42;

Symbol : SCA42;

CISMeF acronym : SCA42;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the T-type voltage-dependent calcium channel, alpha-1G subunit gene (CACNA1G, 604065.0001);

Prefixed ID : #616795;

Details

Origin ID

616795;

UMLS CUI

C4225205;

CISMeF manual mappings
- Spinocerebellar ataxia type 42 [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar Ataxia Type 42 [NCIt concept]
- Spinocerebellar ataxia type 42 (disorder) [SNOMED CT concept]
- cerebellar ataxia type 42 [DO Concept]
DO Cross reference
- cerebellar ataxia type 42 [DO Concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, t type, alpha-1g subunit [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Cognitive impairment [HPO term]
- Depression [HPO term]
- Diplopia [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Eyelid myokymia [HPO term]
- Horizontal nystagmus [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibration sensation at ankles [HPO term]
- Loss of Purkinje cells in the cerebellar vermis [HPO term]
- Saccadic smooth pursuit [HPO term]
- Slowly progressive [HPO term]
- Spastic ataxia [HPO term]
- Spastic gait [HPO term]
- Tremor [HPO term]
- Unsteady gait [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 42 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar Ataxia Type 42 [NCIt concept]
- Spinocerebellar ataxia type 42 [ORDO Disease]
- Spinocerebellar ataxia type 42 (disorder) [SNOMED CT concept]

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