Pituitary Stalk Interruption Syndrome
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

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Frontotemporal Dementia | Non-proliferative Diabetic Retinopathy | Congenital Heart Defects | Stevens-Johnson Syndrome | Glioblastoma Multiforme | Synovitis | Coma | Hyperhomocysteinemia | Alopecia Areata | Pathological Gambling | Hepatitis E | Okihiro Syndrome | Large Granular Lymphocytic Leukemia | Brugada Syndrome 1 | Benign Familial Neonatal Convulsions | Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic | Shock, Cardiogenic | Myofibrillar Myopathy | LMNA-related Congenital Muscular Dystrophy | Sertoli Cell-only Syndrome | Barakat Syndrome | Dysthymia | Pemphigus Foliaceus | Heroin Dependence | Panniculitis | Nemaline Myopathy 10 | Hereditary Inclusion Body Myopathy | Spinocerebellar Ataxia Type 27 | Stroke, Ischemic | Multiple Sclerosis, Secondary Progressive | Double Outlet Right Ventricle | Diabetes Type 2 | Otitis Externa | Macular Corneal Dystrophy Type 1 | Rhabdoid Tumor | Acrodermatitis | REM Sleep Behavior Disorder | Budd-Chiari Syndrome | Synpolydactyly | Withdrawal 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