Spastic paraplegia 12, autosomal dominant

Preferred Label : Spastic paraplegia 12, autosomal dominant;

Symbol : SPG12;

CISMeF acronym : SPG12;

Type : Phenotype, molecular basis known;

Description : Spastic paraplegia-12 is an autosomal dominant neurodegenerative disorder characterized by lower limb spasticity and hyperreflexia, resulting in walking difficulties. Some patients may have urinary symptoms and distal sensory impairment. The age at onset is variable and can range from childhood to adulthood (summary by Montenegro et al., 2012). For a general description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the reticulon 2 gene (RTN2, 603183.0001).;

Prefixed ID : #604805;

Details

Origin ID

604805;

UMLS CUI

C1858106;

Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 12 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 12 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 12 (disorder) [SNOMED CT concept]
- Spastic paraplegia 12, autosomal dominant [MeSH concept]
- hereditary spastic paraplegia 12 [DO Concept]
- spastic paraplegia 12, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 12 [DO Concept]
Genes related to phenotype
- Reticulon 2 [OMIM gene]
HPO term(s)
- Ankle clonus [HPO term]
- Ankle or knee clonus [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Knee clonus [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Sphincter disturbance [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
ORDO concept(s)
- Autosomal dominant spastic paraplegia type 12 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 12 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 12 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 12 (disorder) [SNOMED CT concept]
- Spastic paraplegia 12, autosomal dominant [MeSH concept]
- hereditary spastic paraplegia 12 [DO Concept]
- spastic paraplegia 12, autosomal dominant [MeSH Supplementary Concept]

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