Spastic paraplegia 11, autosomal recessive

Preferred Label : Spastic paraplegia 11, autosomal recessive;

Symbol : SPG11;

CISMeF acronym : HSP-TCC; SPG11;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum; Spastic paraplegia, autosomal recessive, complicated, with thin corpus callosum; HSP-TCC;

Description : Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity. For a discussion of genetic heterogeneity of autosomal recessive HSP, see SPG5A (270800), which has been mapped to chromosome 8p12-q13.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the spatacsin gene (SPG11, 610844.0001);

Prefixed ID : #604360;

Details

Origin ID

604360;

UMLS CUI

C1858479;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 11 [ICD-11 More detail]
- Autosomal recessive spastic paraplegia type 11 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 11 (disorder) [SNOMED CT concept]
- Nakamura Osame syndrome [MeSH concept]
- Spastic Paraplegia 11 [NCIt concept]
- Spastic paraplegia 11, autosomal recessive [MeSH concept]
- hereditary spastic paraplegia 11 [DO Concept]
- nakamura osame syndrome [MeSH Supplementary Concept]
- spastic paraplegia 11, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 11 [DO Concept]
Genes related to phenotype
- Spg11 vesicle trafficking associated, spatacsin [OMIM gene]
HPO term(s)
- Abnormal periventricular white matter morphology [HPO term]
- Adult onset [HPO term]
- Agenesis of corpus callosum [HPO term]
- Ankle clonus [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebral cortical atrophy [HPO term]
- Childhood onset [HPO term]
- Decreased number of peripheral myelinated nerve fibers [HPO term]
- Degeneration of the lateral corticospinal tracts [HPO term]
- Distal peripheral sensory neuropathy [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Intellectual disability [HPO term]
- Knee and ankle clonus [HPO term]
- Knee clonus [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Macular degeneration [HPO term]
- Mental deterioration [HPO term]
- Motor and sensory neuropathy [HPO term]
- Motor polyneuropathy [HPO term]
- Neurogenic muscle atrophy [HPO term]
- Obesity [HPO term]
- Pes cavus [HPO term]
- Pigmented macular degeneration [HPO term]
- Progressive [HPO term]
- Retinal degeneration [HPO term]
- Sensory neuropathy [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Specific learning disability [HPO term]
- Sphincter disturbance [HPO term]
- Thenar muscle atrophy [HPO term]
- Thin corpus callosum [HPO term]
- Tip-toe gait [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
- Visual impairment [HPO term]
- Walking on tiptoes [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 11 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic Paraplegia 11 [NCIt concept]
- Spastic paraplegia 11, autosomal recessive [MeSH concept]
- spastic paraplegia 11, autosomal recessive [MeSH Supplementary Concept]

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