Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1

Preferred Label : Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1;

Symbol : SCAN1;

CISMeF acronym : SCAN1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tyrosyl-DNA phosphodiesterase 1 gene (TDP1, 607198.0001);

Laboratory abnormalities : Hypoalbuminemia, mild; Hypercholesterolemia, mild;

Prefixed ID : #607250;

Details

Origin ID

607250;

UMLS CUI

C4759870;

Automatic exact mappings (from CISMeF team)
- CANT1 wt Allele [NCIt concept]
- Soluble Calcium-Activated Nucleotidase 1 [NCIt concept]
- TDP1 wt Allele [NCIt concept]
- calcium activated nucleotidase 1 [ORDO Gene]
- tyrosyl-DNA phosphodiesterase 1 [ORDO Gene]
- tyrosyl-DNA phosphodiesterase 1 [HGNC gene]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia with axonal neuropathy type 1 [ORDO Disease]
- Spinocerebellar ataxia with axonal neuropathy type 1 (disorder) [SNOMED CT concept]
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MeSH concept]
- spinocerebellar ataxia type 1 with axonal neuropathy [DO Concept]
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MeSH Supplementary Concept]
DO Cross reference
- spinocerebellar ataxia type 1 with axonal neuropathy [DO Concept]
Genes related to phenotype
- Tyrosyl-dna phosphodiesterase 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Distal amyotrophy [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Hypercholesterolemia [HPO term]
- Hypoalbuminemia [HPO term]
- Hyporeflexia [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Seizure [HPO term]
- Sensory neuropathy [HPO term]
- Steppage gait [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia with axonal neuropathy type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia with axonal neuropathy type 1 [ORDO Disease]
- Spinocerebellar ataxia with axonal neuropathy type 1 (disorder) [SNOMED CT concept]
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MeSH concept]
- spinocerebellar ataxia, autosomal recessive, with axonal neuropathy [MeSH Supplementary Concept]

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