Spastic paraplegia 57, autosomal recessive

Preferred Label : Spastic paraplegia 57, autosomal recessive;

Symbol : SPG57;

CISMeF acronym : SPG57;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the TRK-fused gene (TFG, 602498.0002);

Prefixed ID : #615658;

Details

Origin ID

615658;

UMLS CUI

C3714897;

Automatic exact mappings (from CISMeF team)
- TFG wt Allele [NCIt concept]
- trafficking from ER to golgi regulator [ORDO Gene]
- trafficking from ER to golgi regulator [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 57 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 57 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 57 [DO Concept]
DO Cross reference
- hereditary spastic paraplegia 57 [DO Concept]
Genes related to phenotype
- Trafficking from er to golgi regulator [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Hyperreflexia [HPO term]
- Inability to walk [HPO term]
- Muscle weakness [HPO term]
- Optic atrophy [HPO term]
- Sensorimotor neuropathy [HPO term]
- Somatic sensory dysfunction [HPO term]
- Spastic paraplegia [HPO term]
- Visual loss [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 57 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 57 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 57 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 57 [DO Concept]

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