Charcot-Marie-Tooth Disease, Axonal, Type 2q

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OMIM 57 615025 Disease Ontology 12 DOID:0110170 ICD10 33 G60.0 Orphanet 59 ORPHA329258 ICD10 via Orphanet 34 G60.0

MedGen 42 C3554366 CN164583 MeSH 44 D002607 SNOMED-CT via HPO 69 263681008 228158008 74035001 UMLS 73 C3554366

UniProtKB/Swiss-Prot : ⁷⁵ Charcot-Marie-Tooth disease 2Q: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2q, also known as cmt2q, is related to charcot-marie-tooth disease type 2q and charcot-marie-tooth neuropathy type 1. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2q is DHTKD1 (Dehydrogenase E1 And Transketolase Domain Containing 1). Affiliated tissues include skeletal muscle, and related phenotypes are difficulty walking and skeletal muscle atrophy

Disease Ontology : ¹² 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.

Description from OMIM: 615025

Clinical features from OMIM:

615025

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