Details of Disease

General Information of Disease (ID: DISCM811)

• Disease Name: Charcot-Marie-Tooth disease type 2A1
• Synonyms: CMT 2A; Charcot-Marie-Tooth disease, axonal, type 2A1; HMSN IIa1; autosomal dominant Charcot-Marie-Tooth disease type 2A1; HMSN IIA; Charcot-Marie-Tooth disease, neuronal, type 2A1; Charcot-Marie-Tooth neuropathy, type 2A1; hereditary motor and sensory neuropathy 2 A; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1; Charcot-Marie-Tooth disease, axonal, type 2A; hereditary motor and sensory neuropathy IIa1; Charcot-Marie-Tooth disease, neuronal, type 2A; Charcot Marie Tooth disease type 2A; HMSN2A1; CMT2A1; HMSN IIA1; KIF1B Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth disease, type 2A1; autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1; Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1B; CMT2A; Charcot-Marie-Tooth neuropathy type 2A1; Charcot-Marie-Tooth disease type 2A; Charcot-Marie-Tooth disease neuronal type 2A1; Charcot-Marie-Tooth disease type 2A1; hereditary motor and sensory neuropathy IIA1
• Definition: Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.
• Disease Hierarchy:
  DISR30O9: Charcot-Marie-Tooth disease type 2
  DISCM811: Charcot-Marie-Tooth disease type 2A1
• Disease Identifiers:
  MONDO ID: MONDO_0007308
  MESH ID: C566138
  UMLS CUI: C1861678
  OMIM ID: 118210
  MedGen ID: 350076
  Orphanet ID: 99946
  SNOMED CT ID: 717016001

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
KIF1B	OTI1XQTO	Supportive	Autosomal dominant	[1]

References

• [1] Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. Cell. 2001 Jun 1;105(5):587-97. doi: 10.1016/s0092-8674(01)00363-4.