Details of Disease

General Information of Disease (ID: DISC8LSK)

• Disease Name: Charcot-Marie-Tooth disease dominant intermediate E
• Synonyms: Charcot-Marie-Tooth disease - nephropathy; Charcot-Marie-Tooth disease, dominant intermediate E; Charcot-Marie-Tooth disease, dominant Intermediate type E; CMTDIE; Charcot-Marie-Tooth disease dominant intermediate type E; autosomal dominant intermediate Charcot-Marie-Tooth disease type E; Charcot-Marie-Tooth neuropathy with focal segmental glomerulonephritis; Charcot-Marie-Tooth disease-nephropathy syndrome; Charcot-Marie-Tooth disease dominant intermediate E
• Definition: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is characterized by the association of Charcot-Marie-Tooth disease (hereditary peripheral neuropathy) with nephropathy. So far, around 15 cases have been described. All patients had proteinuria (with or without microhematuria) at onset and some patients presented with nephrotic syndrome. In the majority of cases, pathological studies revealed glomerulosclerosis. The mode of transmission is unknown.|Not in the OMIM series.
• Disease Hierarchy:
  DIS6XNC1: Autosomal dominant intermediate Charcot-Marie-Tooth disease
  DISC8LSK: Charcot-Marie-Tooth disease dominant intermediate E
• Disease Identifiers:
  MONDO ID: MONDO_0013758
  UMLS CUI: C4302667
  OMIM ID: 614455
  MedGen ID: 928336
  Orphanet ID: 93114
  SNOMED CT ID: 722294004

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
INF2	OT8ZM13C	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.