Details of Disease | DrugMAP

General Information of Disease (ID: DIS7XS5C)

Disease Name	Charcot-Marie-Tooth disease type 4A
Synonyms	Charcot-Marie-Tooth disease, type 4A; Charcot-Marie-Tooth neuropathy, type 4A; Charcot-Marie-Tooth disease, demyelinating, autosomal recessive; Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A; Charcot Marie Tooth disease type 4A; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A; Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1; GDAP1 Charcot-Marie-Tooth disease type 4; Charcot-Marie-Tooth neuropathy type 4A; CMT4A
Definition	Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.
Disease Hierarchy	DISMM1M7: Charcot-Marie-Tooth disease recessive intermediate A DISM8IZN: Charcot-Marie-Tooth disease type 4 DIS7XS5C: Charcot-Marie-Tooth disease type 4A
Disease Identifiers	MONDO ID MONDO_0008961 MESH ID C535419 UMLS CUI C1859198 OMIM ID 214400 MedGen ID 347821 Orphanet ID 99948 SNOMED CT ID 715796006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GDAP1	OTQE1O25	Supportive	Autosomal recessive	[1]
JPH1	OTCAILYU	Strong	Biomarker	[2]
PMP2	OTKYV2NE	Strong	Biomarker	[3]
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References

1	GDAP1-Related Hereditary Motor and Sensory Neuropathy. 2004 May 11 [updated 2017 Mar 30]. 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.
2	A severe recessive and a mild dominant form of Charcot-Marie-Tooth disease associated with a newly identified Glu222Lys GDAP1 gene mutation.Acta Biochim Pol. 2014;61(4):739-44. Epub 2014 Oct 22.
3	Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A.Genomics. 1995 Jul 20;28(2):286-90. doi: 10.1006/geno.1995.1143.