FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
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General Information
Name
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
FlyBase ID
FBhh0000294
Disease Ontology Term
Parent Disease
OMIM
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
Overview

This report describes Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, which is a subtype of Charcot-Marie-Tooth disease; this form of CMT exhibits autosomal recessive inheritance. The human gene implicated in this disease is GDAP1, which is an integral membrane protein of the outer mitochondrial membrane and is found at high levels in neuronal cells. GDAP1 is implicated in several subtypes of Charcot-Marie-Tooth disease (MIM:214400, MIM:608340, MIM:607706, MIM:607831). See the report for Charcot-Marie-Tooth disease, GDAP1-related (FBhh0000092) for information on experimental results using Drosophila models of this and related diseases.

[updated Jul. 2017 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: Charcot-Marie-Tooth disease
Symptoms and phenotype

Charcot-Marie-Tooth disease (CMT) constitutes a clinically and genetically heterogeneous group of hereditary motor and sensory peripheral neuropathies. CMT is divided into several major types: Type 1 is characterized by demyelination and by a significantly slowed motor median nerve conduction velocity (NCV). Type 2 is characterized by axonal abnormalities and a normal or slightly reduced NCV. "Intermediate" types describe CMT families with nerve conduction velocities, in different affected individuals, that overlap the division between Type 1 and Type 2. Additional types are defined on the basis inheritance patterns. [from MIM:609260 and MIM:606482; 2015.12.15]

(OMIM, 2013-)

Symptoms typically include progressive distal muscle weakness and atrophy, often associated with mild to moderate sensory loss, depressed tendon reflexes, and high-arched feet. [from Gene Reviews, http://www.ncbi.nlm.nih.gov/books/NBK1358 2015.12.15]

(FlyBase Curators, 2013-)
Specific Disease Summary: Charcot-Marie-Tooth disease, axonal, with vocal cord paresis
OMIM report

[CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE](https://omim.org/entry/607706)

Human gene(s) implicated

[GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1; GDAP1](https://omim.org/entry/606598)

Symptoms and phenotype

See description of different CMT classification types, above.

(OMIM, 2013-)
Genetics

CMT, axonal, with vocal cord paresis shows an autosomal recessive pattern of inheritance; it has been shown to be caused by mutation in the GDAP1 gene. [from MIM:607706; 2016.05.26]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

GDAP1 is an integral membrane protein of the outer mitochondrial membrane; it is expressed in the central and peripheral nervous system (Niemann et al., 2005; pubmed:16172208). The C-terminal transmembrane domains are necessary for correct localization in mitochondria; 5 disease-causing missense mutations assayed did not alter mitochondrial localization (Pedrola et al. 2005; pubmed:15772096). [from MIM:606598; 2015.12.17]

(OMIM, 2013-)
External links
Disease synonyms
Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive
Charcot-Marie-Tooth disease, type 4A, axonal form
Charcot-Marie-Tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive
CMT2 with vocal cord paresis, autosomal recessive
neuropathy, axonal, with vocal cord paresis
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
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        Selected Drosophila transgenes
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        Publicly Available Stocks
        RNAi constructs available
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        Selected Drosophila classical alleles
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        Publicly Available Stocks
        References (2)