Details of Disease | DrugMAP

General Information of Disease (ID: DISNPA2O)

Disease Name	Charcot-Marie-Tooth disease type 2B2
Synonyms	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2; Charcot-Marie-Tooth disease, axonal, type 2B2; Charcot-Marie-Tooth neuropathy, type 2B2; Charcot-Marie-Tooth disease, neuronal, type 2B2; Charcot Marie Tooth disease type 2B2; Arcmt2B; Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2; CMT 2B2; MED25 Charcot-Marie-Tooth disease type 2; CMT2B2; Charcot-Marie-Tooth neuropathy type 2B2; Charcot-Marie-Tooth disease type 2 caused by mutation in MED25; autosomal recessive axonal CMT4C3; Charcot-Marie-Tooth disease type 2B2; Charcot-Marie-Tooth disease neuronal type 2B2; AR-CMT2B2; autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2; ARCMT2B; Charcot-Marie-Tooth disease, type 2B2
Definition	Charcot-Marie-Tooth disease, type 2B2 (CMT2B2, also referred to as CMT4C3) is an axonal CMT peripheral sensorimotor polyneuropathy that has been described in a large consanguineous Costa Rican family of Spanish ancestry.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DISNPA2O: Charcot-Marie-Tooth disease type 2B2
Disease Identifiers	MONDO ID MONDO_0011570 MESH ID C537991 UMLS CUI C1854150 OMIM ID 605589 MedGen ID 381352 Orphanet ID 101101 SNOMED CT ID 719981005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PNKP	TTHR3IE	Strong	Autosomal recessive	[1]
PNKP	TTHR3IE	Strong	Biomarker	[1]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAD2L1BP	OT2O2IUJ	Limited	Genetic Variation	[2]
MED25	OTDBY87B	Supportive	Autosomal recessive	[3]
PNKP	OTXJNXVW	Strong	Autosomal recessive	[1]
PRX	OT34Z10B	Strong	Genetic Variation	[4]
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References

1	The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25. Neurogenetics. 2018 Dec;19(4):215-225. doi: 10.1007/s10048-018-0555-7. Epub 2018 Jul 24.
2	A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.Neurogenetics. 2002 Oct;4(2):93-6. doi: 10.1007/s10048-002-0138-4.
3	Charcot-Marie-Tooth Neuropathy Type 2 C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 1998 Sep 24 [updated 2016 Apr 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
4	A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.Am J Hum Genet. 2001 Jan;68(1):269-74. doi: 10.1086/316934. Epub 2000 Dec 7.