FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: Charcot-Marie-Tooth disease, axonal, type 2O
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General Information
Name
Charcot-Marie-Tooth disease, axonal, type 2O
FlyBase ID
FBhh0001598
Disease Ontology Term
Parent Disease
OMIM
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O
Overview

This report describes Charcot-Marie-Tooth disease, axonal, type 2O (CMT2O), which is one of several diseases associated with the human cytoplasmic dynein heavy chain gene DYNC1H1 (see MIM:600112). Information about fly models for this and related diseases can be found in the report 'DYNC1H1-related neurodevelopmental and neuromuscular disorders' (FBhh0001596).

[updated Aug. 2024 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, type 2O
OMIM report

[CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O](https://omim.org/entry/614228)

Human gene(s) implicated

[DYNEIN, CYTOPLASMIC 1, HEAVY CHAIN 1; DYNC1H1](https://omim.org/entry/600112)

Symptoms and phenotype
Genetics

Charcot-Marie-Tooth disease type 2O (CMT2O) is caused by heterozygous mutation in the DYNC1H1 gene. [from MIM:614228; 2024.08.27]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information
External links
    Disease synonyms
    CMT2O
    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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          Publicly Available Stocks
          Selected Drosophila transgenes
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          RNAi constructs available
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          Selected Drosophila classical alleles
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          Publicly Available Stocks
          References (3)