Details of Disease

General Information of Disease (ID: DIS7MLM9)

• Disease Name: Hereditary spastic paraplegia 48
• Synonyms: spastic paraplegia 48, autosomal recessive; autosomal recessive spastic paraplegia 48; hereditary spastic paraplegia caused by mutation in AP5Z1; hereditary spastic paraplegia type 48; SPG48; autosomal recessive spastic paraplegia type 48; AP5Z1 hereditary spastic paraplegia
• Definition: Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.
• Disease Hierarchy:
  DISGZQV1: Hereditary spastic paraplegia
  DIS6QM6U: Lysosomal storage disease
  DIS7MLM9: Hereditary spastic paraplegia 48
• Disease Identifiers:
  MONDO ID: MONDO_0013342
  UMLS CUI: C3150901
  OMIM ID: 613647
  MedGen ID: 462251
  Orphanet ID: 306511
  SNOMED CT ID: 763367009

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
AP5Z1	OTXIPLFH	Strong	Autosomal recessive	[1]

References

• [1] A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol. 2010 Jun 29;8(6):e1000408. doi: 10.1371/journal.pbio.1000408.