Charcot-Marie-Tooth Disease, Axonal, Type 2o (CMT2O)

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Disease Ontology 12 DOID:0110175 OMIM 57 614228 PS118220 MeSH 44 D002607 ICD10 33 G60.0

ICD10 via Orphanet 34 G60.0 Orphanet 59 ORPHA284232 MedGen 42 C3280220 UMLS 72 C3280220

UniProtKB/Swiss-Prot : ⁷⁴ Charcot-Marie-Tooth disease 2O: 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.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2o, also known as charcot-marie-tooth disease, axonal, type 20, is related to charcot-marie-tooth disease type 2o and mental retardation, autosomal dominant 13. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2o is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1). Related phenotypes are pes cavus and falls

Disease Ontology : ¹² A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.

More information from OMIM: 614228 PS118220

Clinical features from OMIM:

614228

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