Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00458 | Syndromic craniosynostoses | Craniosynostosis is the premature fusion of the cranial sutures and secondary distortion of skull shape. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial ... | Congenital malformation |
(Pfeiffer) FGFR1 [HSA:2260] [KO:K04362] (Apert, Pfeiffer, Crouzon, Jackson-Weiss, Beare-Stevenson, Antley-Bixler) FGFR2 [HSA:2263] [KO:K05093] (Muenke) FGFR3 [HSA:2261] [KO:K05094] (Saethre-Chotzen) TWIST1 [HSA:7291] [KO:K09069] (Antley-Bixler) POR [HSA:5447] [KO:K00327] (Carpenter) RAB23 [HSA:51715] [KO:K06234] (Craniofrontonasal) EFNB1 [HSA:1947] [KO:K05463] (Noonan) KRAS [HSA:3845] [KO:K07827] (Baller-Gerold) RECQL4 [HSA:9401] [KO:K10730] |
|
| H01888 | Carpenter syndrome | ... frequent include obesity, umbilical hernia, cryptorchidism, and congenital heart disease. Mutations of RAB23, that regulates vesicular transport, are present in the majority of cases. It has been reported ... | Congenital malformation |
(CRPT1) RAB23 [HSA:51715] [KO:K06234] (CRPT2) MEGF8 [HSA:1954] [KO:K23664] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |