Spastic paraplegia 8, autosomal dominant

Preferred Label : Spastic paraplegia 8, autosomal dominant;

Symbol : SPG8;

CISMeF acronym : SPG8;

Type : Phenotype, molecular basis known;

Description : Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting in difficulty walking. Some patients may become wheelchair-bound after several decades. Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence (summary by de Bot et al., 2013). For a general phenotypic 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 KIAA0196 gene (KIAA0196, 610657.0001);

Prefixed ID : #603563;

Details

Origin ID

603563;

UMLS CUI

C1863704;

Automatic exact mappings (from CISMeF team)
- WASHC5 wt Allele [NCIt concept]
- symbol withdrawn SPG8 [HGNC gene]
Currated CISMeF NLP mapping
- Autosomal dominant spastic paraplegia type 8 [ICD-11 More detail]
- Autosomal dominant spastic paraplegia type 8 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 8 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 8 [DO Concept]
- spastic paraplegia type 8 [MeSH Supplementary Concept]
DO Cross reference
- hereditary spastic paraplegia 8 [DO Concept]
Genes related to phenotype
- Wash complex, subunit 5 [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Degeneration of the lateral corticospinal tracts [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Insidious onset [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]
- Upper limb spasticity [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
ORDO concept(s)
- Autosomal dominant spastic paraplegia type 8 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic paraplegia type 8 [ORDO Disease]
- Autosomal dominant spastic paraplegia type 8 (disorder) [SNOMED CT concept]
- hereditary spastic paraplegia 8 [DO Concept]
- spastic paraplegia type 8 [MeSH concept]
- spastic paraplegia type 8 [MeSH Supplementary Concept]

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