Details of Disease

General Information of Disease (ID: DISXRLFO)

• Disease Name: Charcot-Marie-Tooth disease axonal type 2P
• Synonyms: Charcot-Marie-Tooth disease type 2G; CMT2G; Charcot-Marie-Tooth disease, type 4A, axonal form; Charcot-Marie-Tooth neuropathy, type 2G; Charcot Marie Tooth disease type 2G; Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive; CMT 2G; Charcot-Marie-Tooth disease, axonal, type 2G, formerly; Charcot-Marie-Tooth disease, axonal, type 2G; Charcot-Marie-Tooth neuropathy type 2P; CMT2P; Charcot-Marie-Tooth disease caused by mutation in LRSAM1; autosomal dominant Charcot-Marie-Tooth disease type 2G; Charcot-Marie-Tooth disease, axonal, type 2P; Charcot-Marie-Tooth neuropathy, type 2P; Charcot-Marie-Toothe disease, axonal, type 2P; Charcot-Marie-Tooth disease type 2P; LRSAM1 Charcot-Marie-Tooth disease
• Definition: Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene.
• Disease Hierarchy:
  DISR30O9: Charcot-Marie-Tooth disease type 2
  DIS3BT2L: Charcot marie tooth disease
  DISXRLFO: Charcot-Marie-Tooth disease axonal type 2P
• Disease Identifiers:
  MONDO ID: MONDO_0013753
  UMLS CUI: C3280797
  OMIM ID: 614436
  MedGen ID: 482427
  Orphanet ID: 99941
  SNOMED CT ID: 782826009

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
LRSAM1	OTOKWR6C	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.