Disease

Pituitary Stalk Interruption Syndrome

About the Disease
Pituitary Stalk Interruption Syndrome, also known as ectopic neurohypophysis, is related to pituitary hypoplasia and hypopituitarism. An important gene associated with Pituitary Stalk Interruption Syndrome is ROBO1 (Roundabout Guidance Receptor 1), and among its related pathways/superpathways are Retinoblastoma gene in cancer and Hedgehog signaling pathway. The drugs Epitestosterone and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include pituitary, testis and hypothalamus, and related phenotypes are ectopic posterior pituitary and failure to thrive

Common Targets
PROKR2 | PMM2 | HESX1 | FANCD2 | ARID1B | SLIT2 | GLI2 | SMARCA2 | TGIF1 | BMP4 | FANCE | FSHR | FGFR3 | NKX2-1 | SEMA3E | VPS13B | GLI3 | IL17RD | PTCH1 | CHD7 | DHCR7 | GATA5 | CCDC141 | PRMT7 | RAF1 | LHX9 | CDON | PROP1 | ZNF423 | NBAS | WT1 | G1786 | SHH | CEP120 | FANCA | CFTR | FANCG | WDR11 | ROBO1 | CSPP1 | NSMF | SOX11 | CC2D2A | KATNIP | KISS1R | FANCC | INPP5E | SLX4

疾病靶点研报
Pituitary Stalk Interruption Syndrome

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