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GENE - TERM ANNOTATION REPORT

RGD ID: 69270
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Slc5a7
Name: solute carrier family 5 member 7
Acc ID: DOID:10595
Term: Charcot-Marie-Tooth disease
Definition: A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
Definition Source(s): MESH:D002607, https://www.genome.gov/11009201
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13488398554872ClinVarClinVar Annotator: match by term: Charcot-Marie-Tooth disease

PMID:11294660, PMID:23141292, PMID:7420092
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.