Spastic paraplegia 42, autosomal dominant

Preferred Label : Spastic paraplegia 42, autosomal dominant;

Symbol : SPG42;

CISMeF acronym : SPG42;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the solute carrier family 33 (acetyl-CoA transporter), member 1 gene (SLC33A1, 603690.0001).;

Prefixed ID : #612539;

Details

Origin ID

612539;

UMLS CUI

C2675528;

Automatic exact mappings (from CISMeF team)
- symbol withdrawn SPG42 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 42 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 42 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 42 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 42 [DO Concept]
- spastic paraplegia 42, autosomal dominant [MeSH concept]
- spastic paraplegia 42, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 42 [DO Concept]
Genes related to phenotype
- Solute carrier family 33 (acetyl-coa transporter), member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Lower limb hyperreflexia [HPO term]
- Muscle weakness [HPO term]
- Pes cavus [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
ORDO concept(s)
- Autosomal dominant spastic paraplegia type 42 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 42 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 42 (disorder) [SNOMED CT concept]
- spastic paraplegia 42, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 42, autosomal dominant [MeSH concept]

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