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Charcot-Marie-Tooth disease type 1C

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.
Uniprot Description A dominant demyelinating 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). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet.
Mondo Term and Equivalent IDs
MONDO:0010995:  Charcot-Marie-Tooth disease type 1C
GARD:0001247: 
MESH:C537984: 
Orphanet:101083: 
UMLS:C0270913: