SPG16 gene related symptoms and diseases

All the information presented here about the SPG16 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SPG16 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Urinary incontinence Very Common - Between 80% and 100% cases
Motor aphasia Very Common - Between 80% and 100% cases
Functional abnormality of the gastrointestinal tract Very Common - Between 80% and 100% cases
Functional abnormality of the bladder Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SPG16 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Low frustration tolerance
  • Mood swings
  • Lower limb amyotrophy
  • Sensory ataxia
  • Shuffling gait
  • Facial hypotonia
  • Urinary bladder sphincter dysfunction
  • Restlessness

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SPG16 gene

Here you will find a list of rare diseases related to the SPG16. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


X-LINKED SPASTIC PARAPLEGIA TYPE 16


Alternate names

X-LINKED SPASTIC PARAPLEGIA TYPE 16 Is also known as spg16

Description

Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. Complicated SPGs are accompanied by additional neurologic symptoms such as cerebellar ataxia, sensory loss, mental retardation, nystagmus, and optic atrophy (summary by Steinmuller et al., 1997).A locus for spastic paraplegia-16 has been mapped to Xq11.2-q23 (Steinmuller et al., 1997).For a discussion of genetic heterogeneity of X-linked spastic paraplegia, see {303350}.

Most common symptoms of X-LINKED SPASTIC PARAPLEGIA TYPE 16

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Strabismus
  • Spasticity


More info about X-LINKED SPASTIC PARAPLEGIA TYPE 16

SOURCES: OMIM MESH ORPHANET




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