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  2. Rare Disease Genes
  3. SPG23

SPG23 gene related symptoms and diseases

All the information presented here about the SPG23 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to SPG23 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Progressive spastic paraplegia Very Common - Between 80% and 100% cases
Cafe-au-lait spot Very Common - Between 80% and 100% cases
Narrow face Very Common - Between 80% and 100% cases
Horseshoe kidney Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SPG23 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Paraparesis
  • Spastic paraparesis
  • Abnormality of the genitourinary system
  • Bowel incontinence
  • Premature graying of hair
  • Axonal degeneration
  • Vitiligo
  • Febrile seizures

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SPG23 gene

Here you will find a list of rare diseases related to the SPG23. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

Alternate names

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome, lison syndrome, spg23, spastic paraparesis, vitiligo, premature graying, characteristic facies, spastic paraplegia with pigmentary abnormalities

Description

Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

Most common symptoms of AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia
More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

SOURCES: ORPHANET OMIM MESH

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