Spastic paraplegia 31, autosomal dominant

Preferred Label : Spastic paraplegia 31, autosomal dominant;

Symbol : SPG31;

CISMeF acronym : SPG31;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the receptor expression-enhancing protein-1 gene (REEP1, 609139.0001);

Prefixed ID : #610250;

Détails

Origin ID

610250;

UMLS CUI

C1853247;

Automatic exact mappings (from CISMeF team)
- receptor accessory protein 1 [ORDO Gene]
- receptor accessory protein 1 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 31 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 31 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 31 (disorder) [SNOMED CT concept]
- Spastic Paraplegia 31 [NCIt concept]
- hereditary spastic paraplegia 31 [DO Concept]
- spastic paraplegia 31, autosomal dominant [MeSH concept]
- spastic paraplegia 31, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 31 [DO Concept]
Genes related to phenotype
- Receptor expression-enhancing protein 1 [OMIM gene]
HPO term(s)
- Ankle clonus [HPO term]
- Ankle or knee clonus [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Hyperreflexia [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Pes cavus [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Urinary urgency [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal dominant spastic paraplegia type 31 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 31 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 31 (disorder) [SNOMED CT concept]
- Spastic Paraplegia 31 [NCIt concept]
- spastic paraplegia 31, autosomal dominant [MeSH Supplementary Concept]
- spastic paraplegia 31, autosomal dominant [MeSH concept]

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