Details of Disease

General Information of Disease (ID: DIS5RRJE)

• Disease Name: Charcot-Marie-Tooth disease type 4E
• Synonyms: congenital hypomyelinating neuropathy (CHN); CMT 4E; CHN; Charcot Marie Tooth disease type 4E; hypomyelination, Severe congenital; Charcot-Marie-Tooth neuropathy, type 4E; CHN1; neuropathy, congenital hypomyelinating; neuropathy, congenital hypomyelinating or AMYELINATING, autosomal recessive; neuropathy, congenital hypomyelinating, autosomal dominant; NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; congenital hypomyelination neuropathy; Charcot-Marie-Tooth disease, type 4E; autosomal recessive congenital hypomyelinating neuropathy; neuropathy, congenital hypomyelinating, 1; hypomyelinating neuropathy, congenital, 1; Charcot-Marie-Tooth neuropathy type 4E; CMT4E; autosomal recessive congenital hypomyelinating or amyelinating neuropathy; Neuropathy, Congenital Hypomyelination; Charcot-Marie-Tooth disease type 4E
• Definition: Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity.|Not part of the OMIM series 118220 but maybe it should be? Alternate titles CHARCOT-MARIE-Tooth DISEASE, TYPE 4E; CMT4E and CHARCOT-MARIE-Tooth NEUROPATHY, TYPE 4E.
• Disease Hierarchy:
  DISZUW4L: Neuropathy, congenital hypomelinating
  DISM8IZN: Charcot-Marie-Tooth disease type 4
  DIS5RRJE: Charcot-Marie-Tooth disease type 4E
• Disease Identifiers:
  MONDO ID: MONDO_0011527
  UMLS CUI: C4721436
  OMIM ID: 605253
  MedGen ID: 1648303
  Orphanet ID: 99951

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MPZ	OTAR2YXH	Strong	Biomarker	[1]
EGR2	OTAVQ78J	Definitive	Autosomal recessive	[2]

References

• [1] Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.Brain. 2015 Nov;138(Pt 11):3180-92. doi: 10.1093/brain/awv241. Epub 2015 Aug 25.
• [2] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.