Details of Disease | DrugMAP

General Information of Disease (ID: DIS4U2DX)

Disease Name	Charcot-Marie-Tooth disease axonal type 2F
Synonyms	Charcot-Marie-Tooth disease type 2F; Charcot Marie Tooth disease type 2F; CMT 2F; Charcot-Marie-Tooth neuropathy, type 2F; Charcot-Marie-Tooth disease, neuronal, type 2F; Charcot-Marie-Tooth disease, axonal, type 2F; HSPB1 Charcot-Marie-Tooth disease type 2; Charcot-Marie-Tooth neuronal type 2F; Charcot-Marie-Tooth disease type 2 caused by mutation in HSPB1; CMT2F; Charcot-Marie-Tooth neuropathy type 2F; autosomal dominant Charcot-Marie-Tooth disease type 2F
Definition	Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2F is characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. CMT2F presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DIS4U2DX: Charcot-Marie-Tooth disease axonal type 2F
Disease Identifiers	MONDO ID MONDO_0011687 MESH ID C535413 UMLS CUI C1847823 OMIM ID 606595 MedGen ID 335784 Orphanet ID 99940 SNOMED CT ID 719510006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HSPB1	TT9AZWY	Strong	Genetic Variation	[1]
HSPB3	TTLH8WG	Strong	Genetic Variation	[1]
HSPB1	TT9AZWY	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HSPB2	OTS01646	Strong	Genetic Variation	[1]
MAD2L1BP	OT2O2IUJ	Strong	Genetic Variation	[3]
HSPB1	OTHFZ8ED	Definitive	Autosomal dominant	[2]
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References

1	Decreased ceramide underlies mitochondrial dysfunction in Charcot-Marie-Tooth 2F.FASEB J. 2018 Mar;32(3):1716-1728. doi: 10.1096/fj.201701067R. Epub 2018 Jan 3.
2	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.
3	A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Eur J Hum Genet. 2001 Aug;9(8):646-50. doi: 10.1038/sj.ejhg.5200686.