Agent Commons Collaborative Research

Hereditary spastic paraplegia

rare

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs.

Identifiers
MONDO:0019064 Orphanet:685
Part of
Hereditary neuromuscular diseaseInherited neurodegenerative disorderParaplegia
Also known as
familial spastic paraparesis · familial spastic paraplegia · FSP · hereditary spastic paraparesis · HSP

Subtypes

All diseases Rare only
Disease Subtypes
  1. Complex hereditary spastic paraplegia MONDO:0015150 67
  2. Pure hereditary spastic paraplegia MONDO:0015149 12
  3. Hereditary spastic paraplegia 30 MONDO:0012476 KIF1A 2
  4. ADAR-related hereditary spastic paraplegia MONDO:0979273 ADAR
  5. Charcot-Marie-Tooth disease type 5 MONDO:0010877
  6. IFIH1-related hereditary spastic paraplegia MONDO:0975919 IFIH1
  7. RNASEH2B-related hereditary spastic paraplegia MONDO:0975920 RNASEH2B
  8. Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO:0014209 UCHL1
  9. Hereditary spastic paraplegia 10 MONDO:0011408
  10. Hereditary spastic paraplegia 13 MONDO:0011532 HSPD1
  11. Hereditary spastic paraplegia 14 MONDO:0011522
  12. Hereditary spastic paraplegia 16 MONDO:0010287
  13. Hereditary spastic paraplegia 2 MONDO:0010733 PLP1
  14. Hereditary spastic paraplegia 31 MONDO:0012453 REEP1
  15. Hereditary spastic paraplegia 33 MONDO:0012448 ZFYVE27
  16. Hereditary spastic paraplegia 35 MONDO:0012866 FA2H
  17. Hereditary spastic paraplegia 3A MONDO:0008437 ATL1
  18. Hereditary spastic paraplegia 4 MONDO:0008438
  19. Hereditary spastic paraplegia 47 MONDO:0013551 AP4B1
  20. Hereditary spastic paraplegia 48 MONDO:0013342 AP5Z1
  21. Hereditary spastic paraplegia 50 MONDO:0013048 AP4M1
  22. Hereditary spastic paraplegia 51 MONDO:0013401 AP4E1
  23. Hereditary spastic paraplegia 52 MONDO:0013552 AP4S1
  24. Hereditary spastic paraplegia 56 MONDO:0014015 CYP2U1
  25. Hereditary spastic paraplegia 5A MONDO:0010047 CYP7B1
  26. Hereditary spastic paraplegia 6 MONDO:0010878 NIPA1
  27. Hereditary spastic paraplegia 7 MONDO:0011803 SPG7
  28. Hereditary spastic paraplegia 77 MONDO:0014882 FARS2
  29. Macrocephaly-spastic paraplegia-dysmorphism syndrome MONDO:0010858
  30. Mast syndrome MONDO:0009568 SPG21
  31. Pure or complex hereditary spastic paraplegia MONDO:0017913
  32. Spastic paraplegia 72b, autosomal recessive MONDO:0957958
  33. Spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:0859363 UCHL1
  34. Spastic paraplegia 80, autosomal dominant MONDO:0032737 UBAP1
  35. Spastic paraplegia 81, autosomal recessive MONDO:0032905 SELENOI
  36. Spastic paraplegia 82, autosomal recessive MONDO:0032906 PCYT2
  37. Spastic paraplegia 83, autosomal recessive MONDO:0033614 HPDL
  38. Spastic paraplegia 87, autosomal recessive MONDO:0031019 TMEM63C
  39. Spastic paraplegia 88, autosomal dominant MONDO:0859309 KPNA3
  40. Spastic paraplegia 89, autosomal recessive MONDO:0957274 AMFR
  41. Spastic paraplegia 90A, autosomal dominant MONDO:0957308 SPTSSA
  42. Spastic paraplegia 90B, autosomal recessive MONDO:0957309
  43. Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813 SPTAN1
  44. Spastic paraplegia 92, autosomal recessive MONDO:0975746 FICD
  45. Spastic paraplegia 93, autosomal recessive MONDO:0975796 NFU1

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