GENE - TERM ANNOTATION REPORT

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
Go Back to source page   Continue to Ontology report

NHLBI Logo

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