Spastic paraplegia 17, autosomal dominant

Preferred Label : Spastic paraplegia 17, autosomal dominant;

Symbol : SPG17;

CISMeF acronym : SPG17;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Silver syndrome; Spastic paraplegia with amyotrophy of hands and feet; Silver spastic paraplegia syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the seipin gene (BSCL2, 606158.0013);

Prefixed ID : #270685;

Details

Origin ID

270685;

UMLS CUI

C2931276;

Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 17 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 17 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 17 (disorder) [SNOMED CT concept]
- Spastic paraplegia 17 [MeSH concept]
- hereditary spastic paraplegia 17 [DO Concept]
- spastic paraplegia 17 [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 17 [DO Concept]
Genes related to phenotype
- Bscl2 gene [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Distal amyotrophy [HPO term]
- Distal limb muscle weakness [HPO term]
- Distal muscle weakness [HPO term]
- First dorsal interossei muscle atrophy [HPO term]
- First dorsal interossei muscle weakness [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Pes cavus [HPO term]
- Slowly progressive [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Thenar muscle atrophy [HPO term]
- Thenar muscle weakness [HPO term]
ORDO concept(s)
- Autosomal dominant spastic paraplegia type 17 [ORDO Disease]
See also inter- (CISMeF)
- Silver Russell syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 17 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 17 (disorder) [SNOMED CT concept]
- Spastic paraplegia 17 [MeSH concept]
- spastic paraplegia 17 [MeSH Supplementary Concept]

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