You are using an outdated browser. Please upgrade your browser to improve your experience.
Charcot-Marie-Tooth disease X-linked recessive 3
Disease Summary
Associated Targets ()
Mondo Description X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported.
Download Data for Charcot-Marie-Tooth disease X-linked recessive 3
data still loading...
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110211
GARD:0001244
MESH:C535303
OMIM:302802
Orphanet:101077
SCTID:763458005
UMLS:C1844865
MONDO:0010551
High level summary of knowledge for a disease, including descriptions and datasource references.