Agent Commons Collaborative Research

Charcot-Marie-Tooth disease type 2

rare

A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell.

Identifiers
MONDO:0018993 Orphanet:64746
Part of
Charcot-Marie-Tooth disease
Also known as
autosomal dominant axonal Charcot-Marie-Tooth disease · Charcot-Marie-Tooth type 2 · CMT2 · hereditary motor and sensory neuropathy type 2

Subtypes

All diseases Rare only
Disease
  1. Charcot-Marie-Tooth disease axonal type 2C MONDO:0011633 TRPV4
  2. Charcot-Marie-Tooth disease axonal type 2CC MONDO:0014836 NEFH
  3. Charcot-Marie-Tooth disease axonal type 2F MONDO:0011687 HSPB1
  4. Charcot-Marie-Tooth disease axonal type 2H MONDO:0011901
  5. Charcot-Marie-Tooth disease axonal type 2K MONDO:0011916
  6. Charcot-Marie-Tooth disease axonal type 2L MONDO:0012096 HSPB8
  7. Charcot-Marie-Tooth disease axonal type 2N MONDO:0013212 AARS1
  8. Charcot-Marie-Tooth disease axonal type 2O MONDO:0013644
  9. Charcot-Marie-Tooth disease axonal type 2P MONDO:0013753 LRSAM1
  10. Charcot-Marie-Tooth disease axonal type 2Q MONDO:0014012 DHTKD1
  11. Charcot-Marie-Tooth disease axonal type 2S MONDO:0014511 IGHMBP2
  12. Charcot-Marie-Tooth disease axonal type 2U MONDO:0014566 MARS1
  13. Charcot-Marie-Tooth disease axonal type 2V MONDO:0014665 NAGLU
  14. Charcot-Marie-Tooth disease axonal type 2X MONDO:0014726 SPG11
  15. Charcot-Marie-Tooth disease axonal type 2Z MONDO:0014736 MORC2
  16. Charcot-Marie-Tooth disease type 2A1 MONDO:0007308 KIF1B
  17. Charcot-Marie-Tooth disease type 2A2 MONDO:0012231 MFN2
  18. Charcot-Marie-Tooth disease type 2B MONDO:0010949 RAB7A
  19. Charcot-Marie-Tooth disease type 2B1 MONDO:0011569 LMNA
  20. Charcot-Marie-Tooth disease type 2B2 MONDO:0011570
  21. Charcot-Marie-Tooth disease type 2B5 MONDO:0016454
  22. Charcot-Marie-Tooth disease type 2D MONDO:0011091 GARS1
  23. Charcot-Marie-Tooth disease type 2E MONDO:0011894 NEFL
  24. Charcot-Marie-Tooth disease type 2I MONDO:0011889
  25. Charcot-Marie-Tooth disease type 2J MONDO:0011903
  26. Charcot-Marie-Tooth disease type 2R MONDO:0014208 TRIM2
  27. Charcot-Marie-Tooth disease type 2T MONDO:0044640 MME
  28. Charcot-Marie-Tooth disease type 2Y MONDO:0014735 VCP
  29. Charcot-Marie-Tooth disease, axonal, type 2EE MONDO:0032728 MPV17
  30. Charcot-Marie-tooth disease, axonal, type 2DD MONDO:0054833 ATP1A1
  31. MME-related autosomal dominant Charcot Marie Tooth disease type 2 MONDO:0044657
  32. Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation MONDO:0017940
  33. Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation MONDO:0018567
  34. Autosomal dominant Charcot-Marie-Tooth disease type 2K MONDO:0020558
  35. Autosomal dominant Charcot-Marie-Tooth disease type 2M MONDO:0016431
  36. Autosomal dominant Charcot-Marie-Tooth disease type 2W MONDO:0014711 HARS1
  37. Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation MONDO:0044625 DGAT2
  38. Giant axonal neuropathy 2 MONDO:0012411 DCAF8

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