Charcot-Marie-Tooth Disease, Type 1e malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Fetal diseases, Muscle diseases, Metabolic diseases
Aliases & Descriptions for Charcot-Marie-Tooth Disease, Type 1e:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Age of onset: Childhood,Infancy; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases, Fetal diseases, Metabolic diseases
Anatomical: Neuronal diseases, Ear diseases, Muscle diseases
Rare neurological diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:46 Charcot-marie-tooth disease type 1e (cmt1e) is a form of charcot-marie-tooth disease, which is a group of rare conditions that affect the peripheral nerves. signs and symptoms of cmt1e generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. in general, cmt1e is associated with the typical features of charcot-marie-tooth disease type 1 (progressive weakness of the feet and/or ankles; foot drop; atrophy of muscles below the knee; absent tendon reflexes of upper and lower extremities; and a decreased sensitivity to touch, heat, and cold in the feet and/or lower legs) in addition to hearing loss. cmt1e is caused by certain changes (mutations) in the pmp22 gene and is inherited in an autosomal dominant manner. treatment is based on the signs and symptoms present in each person. last updated: 2/18/2016
MalaCards based summary: Charcot-Marie-Tooth Disease, Type 1e, also known as charcot-marie-tooth disease type 1, is related to x-linked charcot-marie-tooth disease type 1 and charcot-marie-tooth type 1 aplasia cutis congenita, and has symptoms including sensorineural hearing impairment, split hand and hyporeflexia. An important gene associated with Charcot-Marie-Tooth Disease, Type 1e is PMP22 (Peripheral Myelin Protein 22), and among its related pathways is Neural Crest Differentiation. Related mouse phenotype homeostasis/metabolism.
Disease Ontology:11 A charcot-marie-tooth disease characterized by demyelination of the peripheral nerve axons.
UniProtKB/Swiss-Prot:68 Charcot-Marie-Tooth disease 1E: An autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy.
Description from OMIM:50 118300
HPO human phenotypes related to Charcot-Marie-Tooth Disease, Type 1e:(show all 13)
Drugs for Charcot-Marie-Tooth Disease, Type 1e (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 9)
Interventional clinical trials:(show all 20)
Search NIH Clinical Center for Charcot-Marie-Tooth Disease, Type 1e
Articles related to Charcot-Marie-Tooth Disease, Type 1e:
UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Type 1e:68
Clinvar genetic disease variations for Charcot-Marie-Tooth Disease, Type 1e:5
Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Type 1e.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet