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Charcot-Marie-Tooth disease axonal type 2Q

Summary
Synonym
  • CMT2Q
  • Charcot-Marie-Tooth neuropathy type 2Q
  • autosomal dominant Charcot-Marie-Tooth disease type 2Q
  • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Definition
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14.
Super Class
Charcot-Marie-Tooth disease type 2 autosomal dominant disease
Disease Ontology
DOID:0110170
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
55526 DHTKD1 dehydrogenase E1 and transketolase domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
209692 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
361272 Dhtkd1 dehydrogenase E1 and transketolase domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
43689 CG1544 uncharacterized protein
Displaying 1 entry
Gene ID Gene Symbol Description Source
494076 dhtkd1 dehydrogenase E1 and transketolase domain containing 1
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
403360 dhtkd1.L dehydrogenase E1 and transketolase domain containing 1 L homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
179674 ogdh-2 Transketolase-like pyrimidine-binding domain-containing protein;putative 2-oxoadipate dehydrogenase complex component E1 homolog
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024