Spastic paraplegia 46, autosomal recessive

Preferred Label : Spastic paraplegia 46, autosomal recessive;

Symbol : SPG46;

CISMeF acronym : SPG46;

Type : Phenotype, molecular basis known;

Description : Autosomal recessive spastic paraplegia-46 (SPG46) is a neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and cerebellar signs. Some patients have cognitive impairment, cataracts, and cerebral, cerebellar, and corpus callosum atrophy on brain imaging (summary by Boukhris et al., 2010 and Martin et al., 2013).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the beta acid glucosidase 2 gene (GBA2, 609471.0001);

Prefixed ID : #614409;

Détails

Origin ID

614409;

UMLS CUI

C2828721;

Currated CISMeF NLP mapping
- Autosomal recessive spastic paraplegia type 46 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 46 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 46 [DO Concept]
DO Cross reference
- hereditary spastic paraplegia 46 [DO Concept]
Genes related to phenotype
- Glucosidase, beta, acid 2 [OMIM gene]
HPO term(s)
- Ankle clonus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cataract [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Dementia [HPO term]
- Dysarthria [HPO term]
- Head tremor [HPO term]
- Hearing impairment [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Infertility [HPO term]
- Intellectual disability [HPO term]
- Jerky ocular pursuit movements [HPO term]
- Knee clonus [HPO term]
- Kyphosis [HPO term]
- Limb dysmetria [HPO term]
- Limb muscle weakness [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Mental deterioration [HPO term]
- Nystagmus [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Scoliosis [HPO term]
- Slowly progressive [HPO term]
- Spastic gait [HPO term]
- Spastic paraplegia [HPO term]
- Upper limb dysmetria [HPO term]
- Upper limb spasticity [HPO term]
- Urinary incontinence [HPO term]
ORDO concept(s)
- Autosomal recessive spastic paraplegia type 46 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive spastic paraplegia type 46 [ORDO Disease]
- Autosomal recessive spastic paraplegia type 46 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 46 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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