Details of Disease | DrugMAP

General Information of Disease (ID: DISM8IZN)

Disease Name	Charcot-Marie-Tooth disease type 4
Synonyms	autosomal recessive demyelinating Charcot-Marie-Tooth; AR-CMT1; CMT4
Definition	Charcot-Marie-Tooth disease type 4 (CMT4) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.
Disease Hierarchy	DIS3BT2L: Charcot marie tooth disease DISM8IZN: Charcot-Marie-Tooth disease type 4
Disease Identifiers	MONDO ID MONDO_0018995 UMLS CUI C4082197 MedGen ID 905419 Orphanet ID 64749 SNOMED CT ID 715795005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MTM1	TTY2TCU	Definitive	Biomarker	[1]
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This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FIG4	OT501PY9	Limited	CausalMutation	[2]
NDRG1	OTVO66BO	Limited	CausalMutation	[3]
SBF2	OTBB8NO8	Limited	CausalMutation	[4]
SH3TC2	OTJ6XY2A	Limited	CausalMutation	[5]
FGD4	OTYXJQCW	Disputed	Genetic Variation	[6]
GDAP1	OTQE1O25	Disputed	Genetic Variation	[7]
MTMR2	OTNCYGBP	Strong	Genetic Variation	[8]
PRX	OT34Z10B	Definitive	Autosomal recessive	[9]
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⏷ Show the Full List of 8 DOT(s)

References

1	Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.PLoS Genet. 2011 Oct;7(10):e1002319. doi: 10.1371/journal.pgen.1002319. Epub 2011 Oct 20.
2	Genetic heterogeneity of motor neuropathies.Neurology. 2017 Mar 28;88(13):1226-1234. doi: 10.1212/WNL.0000000000003772. Epub 2017 Mar 1.
3	Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia.J Appl Genet. 2013 Nov;54(4):455-60. doi: 10.1007/s13353-013-0168-7. Epub 2013 Aug 31.
4	Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.Acta Myol. 2014 Dec;33(3):144-8.
5	Audiological Findings in Charcot-Marie-Tooth Disease Type 4C.J Int Adv Otol. 2017 Apr;13(1):93-99. doi: 10.5152/iao.2017.3379.
6	Two novel missense mutations in FGD4/FRABIN cause Charcot-Marie-Tooth type 4H (CMT4H).J Peripher Nerv Syst. 2012 Jun;17(2):141-6. doi: 10.1111/j.1529-8027.2012.00405.x.
7	Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.Neuromuscul Disord. 2003 Nov;13(9):720-8. doi: 10.1016/s0960-8966(03)00093-2.
8	SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology. 2013 Jul 9;81(2):165-73. doi: 10.1212/WNL.0b013e31829a3421. Epub 2013 Jun 7.
9	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.