Disease

Beckwith-Wiedemann Syndrome

About the Disease
Beckwith-Wiedemann Syndrome, also known as wiedemann-beckwith syndrome, is related to hepatoblastoma and macroglossia. An important gene associated with Beckwith-Wiedemann Syndrome is CDKN1C (Cyclin Dependent Kinase Inhibitor 1C). The drugs Acetylcholine and Dactinomycin have been mentioned in the context of this disorder. Affiliated tissues include Kidney, tongue and liver, and related phenotypes are tall stature and large for gestational age

Common Targets
NAP1L5 | IGF2R | MEG3 | GRB10 | TGM1 | SNU13 | PADI6 | PPIEL | GET1 | SNRPN | ZNF597 | PLAGL1 | GNAS-AS1 | NSD1 | FIBP | KMT2A | RB1 | NNAT | FAM50B | GNAS | KCNQ1OT1 | ZFP57 | ZNF331 | NLRP2 | DIRAS3 | MCTS2 | MEST | IGF2 | DMD | H19 | H19-ICR | CDKN1C | L3MBTL1

疾病靶点研报
Beckwith-Wiedemann Syndrome

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