Spastic paraplegia 20, autosomal recessive

Preferred Label : Spastic paraplegia 20, autosomal recessive;

Symbol : SPG20;

CISMeF acronym : SPG20;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Troyer syndrome; Spastic paraparesis, childhood-onset, with distal muscle wasting; Spastic paraplegia, autosomal recessive, troyer type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the spartin gene (SPG20, 607111.0001);

Prefixed ID : #275900;

Details

Origin ID

275900;

UMLS CUI

C0393559;

Automatic exact mappings (from CISMeF team)
- spartin [ORDO Gene]
Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 20 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 20 [ORDO Disease]
- Spastic paraplegia 20, autosomal recessive [MeSH concept]
- Troyer syndrome [DO Concept]
- Troyer syndrome (disorder) [SNOMED CT concept]
- spastic paraplegia 20, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- Troyer syndrome [DO Concept]
Genes related to phenotype
- Spartin [OMIM gene]
HPO term(s)
- Abnormal cerebellum morphology [HPO term]
- Ankle clonus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Brachydactyly [HPO term]
- Camptodactyly [HPO term]
- Cerebellar atrophy [HPO term]
- Childhood onset [HPO term]
- Clinodactyly [HPO term]
- Difficulty walking [HPO term]
- Distal amyotrophy [HPO term]
- Drooling [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Emotional lability [HPO term]
- Flexion contracture [HPO term]
- Global developmental delay [HPO term]
- Hammertoe [HPO term]
- Hyperextensible hand joints [HPO term]
- Hyperplasia of midface [HPO term]
- Hyperreflexia [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability, mild [HPO term]
- Knee and ankle clonus [HPO term]
- Knee clonus [HPO term]
- Kyphoscoliosis [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Motor delay [HPO term]
- Pes cavus [HPO term]
- Short foot [HPO term]
- Short stature [HPO term]
- Small feet [HPO term]
- Spastic gait [HPO term]
- Spastic paraparesis [HPO term]
- Spastic paraplegia [HPO term]
- Upper limb spasticity [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 20 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 20 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 20 [ICD-11 More detail]
- Spastic paraplegia 20, autosomal recessive [MeSH concept]
- Troyer syndrome [DO Concept]
- Troyer syndrome (disorder) [SNOMED CT concept]
- spastic paraplegia 20, autosomal recessive [MeSH Supplementary Concept]

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