Charcot-Marie-Tooth Disease, Type 2b malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal diseases, Ear diseases, Metabolic diseases
Aliases & Descriptions for Charcot-Marie-Tooth Disease, Type 2b:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult
charcot-marie-tooth disease, type 2b:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases, Metabolic diseases
Anatomical: Neuronal diseases, Muscle diseases, Ear diseases
ICD10: 30 29
Rare neurological diseases
UniProtKB/Swiss-Prot:69 Charcot-Marie-Tooth disease 2B: A dominant 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, Type 2b, also known as cmt2b, is related to dnm2-related intermediate charcot-marie-tooth neuropathy and charcot-marie-tooth disease, type 2a1, and has symptoms including hyporeflexia, areflexia and pes cavus. An important gene associated with Charcot-Marie-Tooth Disease, Type 2b is RAB7A (RAB7A, Member RAS Oncogene Family). Affiliated tissues include brain.
Disease Ontology:11 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the RAB7 gene on chromosome 3q21.
NIH Rare Diseases:47 Charcot-Marie-Tooth disease type 2B (CMT2B) affects the peripheral nerves, the nerves running from outside the brain and spine. Common signs and symptoms include slowly progressive weakness and numbness in the feet, lower leg muscles, hands, and forearms. This type of CMT is also associated with the formation of ulcers in the hands and feet. Symptoms may start in childhood to early adulthood, although later onset (>50 years) has also been described. Symptoms of CMT2B vary but tend to be similar to that of CMT type 1. CMT2B is caused by changes in the RAB7A gene. It is inherited in an autosomal dominant fashion. Last updated: 9/9/2013
Description from OMIM:51 600882
Human phenotypes related to Charcot-Marie-Tooth Disease, Type 2b:63 (show all 16)
UMLS symptoms related to Charcot-Marie-Tooth Disease, Type 2b:gait, drop foot
MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Type 2b:35
Articles related to Charcot-Marie-Tooth Disease, Type 2b:
UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Type 2b:69
Clinvar genetic disease variations for Charcot-Marie-Tooth Disease, Type 2b:5
Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Type 2b.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet