Details of Disease

General Information of Disease (ID: DISR7JN1)

• Disease Name: Hereditary spastic paraplegia 23
• Synonyms: spastic paraparesis, vitiligo, premature graying, characteristic facies; spastic paraplegia and pigmentary abnormalities; SPG 23; spastic paraplegia vitiligo premature greying and characteristic facies; autosomal recessive spastic paraplegia type 23; spastic paraplegia vitiligo premature graying and characteristic facies; spastic paraplegia with pigmentary abnormalities; autosomal recessive complex spastic paraplegia caused by mutation in DSTYK; spastic paraplegia 23; SPG23; Lison syndrome; DSTYK autosomal recessive complex spastic paraplegia; hereditary spastic paraplegia type 23; spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
• Definition: 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.
• Disease Hierarchy:
  DIS9KXQY: Complex hereditary spastic paraplegia
  DISR7JN1: Hereditary spastic paraplegia 23
• Disease Identifiers:
  MONDO ID: MONDO_0010046
  MESH ID: C536859
  UMLS CUI: C0796019
  OMIM ID: 270750
  MedGen ID: 167094
  Orphanet ID: 101003
  SNOMED CT ID: 726608002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DSTYK	OTUL75IR	Supportive	Autosomal recessive	[1]

References

• [1] Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. Am J Hum Genet. 2017 Feb 2;100(2):364-370. doi: 10.1016/j.ajhg.2017.01.014.