Charcot-Marie-Tooth Disease, Type 2b1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Fetal diseases, Ear diseases, Metabolic diseases
Aliases & Descriptions for Charcot-Marie-Tooth Disease, Type 2b1:
Orphanet epidemiological data:53
charcot-marie-tooth disease type 2b1:
Inheritance: Autosomal recessive; Age of onset: Childhood
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 2B1: A recessive 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 2b1, also known as charcot-marie-tooth neuropathy type 2b1, is related to charcot-marie-tooth disease, type 2a1 and charcot-marie-tooth disease, type 2b2, and has symptoms including hyporeflexia, areflexia and pes cavus. An important gene associated with Charcot-Marie-Tooth Disease, Type 2b1 is LMNA (Lamin A/C).
Disease Ontology:11 A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.
OMIM:51 Charcot-Marie-Tooth disease constitutes a clinically and genetically heterogeneous group of hereditary motor and... (605588) more...
Human phenotypes related to Charcot-Marie-Tooth Disease, Type 2b1:63 (show all 15)
UMLS symptoms related to Charcot-Marie-Tooth Disease, Type 2b1:gait, drop foot
UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Type 2b1:69
Clinvar genetic disease variations for Charcot-Marie-Tooth Disease, Type 2b1:5
Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Type 2b1.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet