Spinocerebellar ataxia 43

Preferred Label : Spinocerebellar ataxia 43;

Symbol : SCA43;

CISMeF acronym : SCA43;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the membrane metalloendopeptidase gene (MME, 120520.0006);

Prefixed ID : #617018;

Détails

Origin ID

617018;

UMLS CUI

C4310763;

CISMeF manual mappings
- Spinocerebellar ataxia type 43 [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia type 43 (disorder) [SNOMED CT concept]
- cerebellar ataxia type 43 [DO Concept]
DO Cross reference
- cerebellar ataxia type 43 [DO Concept]
Genes related to phenotype
- Membrane metalloendopeptidase [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar vermis atrophy [HPO term]
- Distal amyotrophy [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Gait ataxia [HPO term]
- Hypometric saccades [HPO term]
- Hyporeflexia [HPO term]
- Late onset [HPO term]
- Limb ataxia [HPO term]
- Lower limb pain [HPO term]
- Middle age onset [HPO term]
- Nystagmus [HPO term]
- Palmomental reflex [HPO term]
- Pectus carinatum [HPO term]
- Pes cavus [HPO term]
- Postural instability [HPO term]
- Rigidity [HPO term]
- Sensorimotor neuropathy [HPO term]
- Slowly progressive [HPO term]
- Tremor [HPO term]
See also inter- (CISMeF)
- MME wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia type 43 [ORDO Disease]
- Spinocerebellar ataxia type 43 (disorder) [SNOMED CT concept]

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