ONTOLOGY REPORT - ANNOTATIONS


Term:Lambert-Eaton myasthenic syndrome
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Accession:DOID:0050214 term browser browse the term
Definition:An autoimmune disease characterized by weakness and fatigability of proximal muscles, particularly of the pelvic girdle, lower extremities, trunk, and shoulder girdle. There is relative sparing of extraocular and bulbar muscles. CARCINOMA, SMALL CELL of the lung is a frequently associated condition, although other malignancies and autoimmune diseases may be associated. Muscular weakness results from impaired impulse transmission at the NEUROMUSCULAR JUNCTION. Presynaptic calcium channel dysfunction leads to a reduced amount of acetylcholine being released in response to stimulation of the nerve. (From Adams et al., Principles of Neurology, 6th ed, pp 1471)
Synonyms:exact_synonym: Eaton Lambert Syndrome;   Eaton-Lambert Myasthenic-Myopathic Syndrome;   Eaton-Lambert Myopathic-Myasthenic Syndromes;   LEMS;   Myasthenic Myopathic Syndrome of Eaton Lambert
 primary_id: MESH:D015624
 alt_id: RDO:0006910
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Lambert-Eaton myasthenic syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link 19 25,453,236 25,749,550 RGD:13592920
G Cacna1b calcium voltage-gated channel subunit alpha1 B JBrowse link 3 1,740,026 1,924,959 RGD:1626312
G Chrm1 cholinergic receptor, muscarinic 1 JBrowse link 1 224,869,087 224,885,101 RGD:5133415

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  disease 14823
    syndrome 4218
      Lambert-Eaton myasthenic syndrome 3
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        peripheral nervous system disease 2009
          neuropathy 1830
            neuromuscular disease 1411
              neuromuscular junction disease 86
                Lambert-Eaton myasthenic syndrome 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.