eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	lambert-eaton myasthenic syndrome

Disease ID	1095
Disease	lambert-eaton myasthenic syndrome
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)
Synonym	eaton lambert myasthenic syndrome eaton lambert myasthenic syndrome (disorder) eaton lambert syndrome eaton-lambert myasthenic syndrome eaton-lambert myasthenic-myopathic syndrome eaton-lambert myopathic-myasthenic syndrome eaton-lambert myopathic-myasthenic syndromes eaton-lambert syndrome eaton-lambert syndrome (disorder) eaton-lambert-rooke syndrome lambert eaton myasthenic syndrome lambert eaton syndrome lambert-eaton myasthenic syndrome [disease/finding] lambert-eaton myasthenic-myopathic syndrome lambert-eaton myasthenic-myopathic syndromes lambert-eaton myopathic-myasthenic syndrome lambert-eaton myopathic-myasthenic syndromes lambert-eaton syndrome lambert-eaton syndrome nos lems - lambert-eaton myasthenic syndrome myasthenic myopathic syndrome lambert eaton myasthenic myopathic syndrome of eaton lambert myasthenic myopathic syndrome of lambert eaton myasthenic syndrome myasthenic syndrome of lambert eaton myasthenic syndrome, eaton-lambert myasthenic syndrome, lambert eaton myasthenic syndrome, lambert-eaton myasthenic syndromes myasthenic-myopathic syndrome of eaton-lambert myasthenic-myopathic syndrome of lambert-eaton myopathic myasthenic syndrome of eaton lambert myopathic myasthenic syndrome of lambert eaton myopathic-myasthenic syndrome of eaton-lambert myopathic-myasthenic syndrome of lambert-eaton syndrome, eaton-lambert syndrome, eaton-lambert myasthenic syndrome, lambert-eaton syndrome, lambert-eaton myasthenic
Orphanet	ORPHANET:43393
DOID	DOID:0050214
UMLS	C0022972
MeSH	D015624
SNOMED-CT	SNOMEDCT_US_2016_09_01:56989000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:19) C0242379 \| lung cancer \| 6 C0149925 \| small cell lung cancer \| 5 C0040100 \| thymoma \| 2 C0027708 \| wilms tumor \| 1 C0014527 \| epidermolysis bullosa \| 1 C0007137 \| squamous cell carcinoma \| 1 C0026850 \| muscular dystrophy \| 1 C0026848 \| myopathies \| 1 C0042133 \| uterine leiomyoma \| 1 C0206695 \| neuroendocrine carcinoma \| 1 C1522378 \| large granular lymphocytic leukemia \| 1 C0023418 \| leukemia \| 1 C0003873 \| rheumatoid arthritis \| 1 C0026896 \| myasthenia gravis \| 1 C1527336 \| sjogren syndrome \| 1 C0152013 \| lung adenocarcinoma \| 1 C0001418 \| adenocarcinoma \| 1 C0023448 \| lymphocytic leukemia \| 1 C0007129 \| merkel cell carcinoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 783 \| CACNB2 \| UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:54) 375790 \| AGRN \| 3.938 \| DISEASES 273 \| AMPH \| 4.386 \| DISEASES 23141 \| ANKLE2 \| 3.373 \| DISEASES 551 \| AVP \| 1.047 \| DISEASES 773 \| CACNA1A \| 3.259 \| DISEASES 774 \| CACNA1B \| 2.223 \| DISEASES 779 \| CACNA1S \| 1.848 \| DISEASES 785 \| CACNB4 \| 2.553 \| DISEASES 820 \| CAMP \| 1.664 \| DISEASES 959 \| CD40LG \| 1.991 \| DISEASES 1038 \| CDR1 \| 1.674 \| DISEASES 1103 \| CHAT \| 1.779 \| DISEASES 1137 \| CHRNA4 \| 2.526 \| DISEASES 6900 \| CNTN2 \| 1.564 \| DISEASES 26047 \| CNTNAP2 \| 3.299 \| DISEASES 1621 \| DBH \| 2.327 \| DISEASES 51428 \| DDX41 \| 1.203 \| DISEASES 285489 \| DOK7 \| 2.97 \| DISEASES 1798 \| DPAGT1 \| 5.735 \| DISEASES 1993 \| ELAVL2 \| 1.999 \| DISEASES 1995 \| ELAVL3 \| 2.448 \| DISEASES 1996 \| ELAVL4 \| 3.593 \| DISEASES 2010 \| EMD \| 1.277 \| DISEASES 23085 \| ERC1 \| 3.709 \| DISEASES 2524 \| FUT2 \| 1.299 \| DISEASES 2673 \| GFPT1 \| 1.276 \| DISEASES 2705 \| GJB1 \| 2.057 \| DISEASES 2900 \| GRIK4 \| 2.21 \| DISEASES 219844 \| HYLS1 \| 1.726 \| DISEASES 386653 \| IL31 \| 1.649 \| DISEASES 3710 \| ITPR3 \| 1.79 \| DISEASES 9211 \| LGI1 \| 2.719 \| DISEASES 4038 \| LRP4 \| 2.098 \| DISEASES 4099 \| MAG \| 3.308 \| DISEASES 4155 \| MBP \| 1.06 \| DISEASES 4593 \| MUSK \| 5.508 \| DISEASES 84876 \| ORAI1 \| 1.709 \| DISEASES 103164619 \| PCAT2 \| 3.235 \| DISEASES 26227 \| PHGDH \| 1.216 \| DISEASES 10687 \| PNMA2 \| 2.325 \| DISEASES 340526 \| RGAG4 \| 3.438 \| DISEASES 6261 \| RYR1 \| 3.227 \| DISEASES 23583 \| SMUG1 \| 2.124 \| DISEASES 6656 \| SOX1 \| 5.329 \| DISEASES 6657 \| SOX2 \| 1.37 \| DISEASES 11166 \| SOX21 \| 3.149 \| DISEASES 6658 \| SOX3 \| 2.011 \| DISEASES 6809 \| STX3 \| 2.827 \| DISEASES 127833 \| SYT2 \| 2.914 \| DISEASES 8718 \| TNFRSF25 \| 2.482 \| DISEASES 1861 \| TOR1A \| 2.034 \| DISEASES 7222 \| TRPC3 \| 2.821 \| DISEASES 7273 \| TTN \| 2.469 \| DISEASES 7402 \| UTRN \| 1.25 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1095
Disease	lambert-eaton myasthenic syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:19) HP:0030357 \| Small cell lung carcinoma \| 5 HP:0002104 \| Absence of spontaneous respiration \| 3 HP:0001324 \| Muscular weakness \| 3 HP:0100522 \| Thymoma \| 2 HP:0003560 \| Muscular dystrophy \| 1 HP:0003418 \| Back pain \| 1 HP:0000131 \| Uterine leiomyoma \| 1 HP:0002015 \| Swallowing difficulty \| 1 HP:0001605 \| Vocal cord paralysis \| 1 HP:0003473 \| Fatigable weakness \| 1 HP:0030078 \| Lung adenocarcinoma \| 1 HP:0002667 \| Wilms tumor \| 1 HP:0001909 \| Leukemia \| 1 HP:0100295 \| Muscle fibre atrophy \| 1 HP:0002664 \| Neoplasia \| 1 HP:0012531 \| Pain \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0002460 \| Weakness of distal muscles \| 1 HP:0002860 \| Squamous cell carcinoma \| 1

Disease ID	1095
Disease	lambert-eaton myasthenic syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:10) C2020541 \| strabismus C1145670 \| respiratory failure C1145628 \| disorders of the autonomic nervous system C0684249 \| lung carcinoma C0149925 \| small cell lung cancer C0033377 \| ptosis C0030552 \| muscle paresis C0007758 \| cerebellar ataxia C0007459 \| neurogenic bladder C0004364 \| autoimmune disorder
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0149925 \| small cell lung cancer \| 5 C0242379 \| lung cancer \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1095
Disease	lambert-eaton myasthenic syndrome
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter