Spastic paraplegia 45, autosomal recessive

Preferred Label : Spastic paraplegia 45, autosomal recessive;

Symbol : SPG45;

CISMeF acronym : SPG45;

Type : Phenotype, molecular basis known;

Description : For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (270800).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 5-prime nucleotidase, cytosolic II gene (NT5C2, 600417.0001);

Prefixed ID : #613162;

Details

Origin ID

613162;

UMLS CUI

C3888209;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 45 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 45 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 45 [DO Concept]
DO Cross reference
- hereditary spastic paraplegia 45 [DO Concept]
Genes related to phenotype
- 5-prime-nucleotidase, cytosolic II [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Dysplastic corpus callosum [HPO term]
- Flexion contracture [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Lower limb spasticity [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 45 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 45 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 45 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 45 [DO Concept]

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