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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00713 | Beckwith-Wiedemann syndrome | ... telomeric ICR1, hypermethylation of the H19 promoter and loss of imprinting of IGF2 have been reported in a small fraction of patients with BWS. A few BWS cases could be related to NSD1 deletions or mutations. | Congenital malformation |
CDKN1C [HSA:1028] [KO:K09993] IGF2 [HSA:3481] [KO:K13769] KCNQ1 [HSA:3784] [KO:K04926] |
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| H00718 | Sotos syndrome | ... and developmental delay. It has been reported that the majority of patients with typical Sotos and Weaver syndrome have intragenic mutations or deletions of NSD1, and thus, represent allelic disorders. | Congenital malformation |
(SOTOS1) NSD1 [HSA:64324] [KO:K15588] (SOTOS2) NFIX [HSA:4784] [KO:K09171] (SOTOS3) APC2 [HSA:10297] [KO:K02085] |
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