CRRD ID: 11788462
Species: Pan paniscus
CRRD Object: Gene
Symbol: SCN1A
Name: sodium voltage-gated channel alpha subunit 1
Acc ID: DOID:1921
Term: Klinefelter's syndrome
Definition: A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Definition Source(s): MESH:D007713
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)
 ISSCRRD:7357779068941ClinVarClinVar Annotator: match by term: Hypogonadotropic hypogonadism

PMID:11254445, PMID:17347258, PMID:18930999, PMID:19589774, PMID:21713554, PMID:25741868, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.