KLC2 gene related symptoms and diseases

All the information presented here about the KLC2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KLC2 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Sensory axonal neuropathy Very Common - Between 80% and 100% cases
Distal amyotrophy Very Common - Between 80% and 100% cases
Sensory neuropathy Very Common - Between 80% and 100% cases
Optic disc pallor Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KLC2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormality of extrapyramidal motor function
  • Sensorimotor neuropathy
  • Delayed gross motor development
  • Multiple joint contractures
  • Paraplegia
  • Progressive spastic paraplegia
  • Decreased number of peripheral myelinated nerve fibers
  • Impaired vibration sensation in the lower limbs

And 24 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KLC2 gene

Here you will find a list of rare diseases related to the KLC2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME


Alternate names

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan, spg68, autosomal recessive spastic paraplegia type 68

Description

Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

Most common symptoms of SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

SOURCES: ORPHANET MESH OMIM


Potential gene panels for KLC2 gene

Hereditary Spastic Paraplegia Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG

More info about this panel

KLC2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KLC2 gene.

More info about this panel


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