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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00516 | Cleft lip and/or cleft palate | Cleft lip and/or cleft palate (orofacial cleft, OFC) represents a spectrum of craniofacial anomalies. These clefts are one of the most common congenital malformations that can arise as part of a syndrome ... | Congenital malformation |
(OFC5) MSX1 [HSA:4487] [KO:K09341] (OFC6) IRF6 [HSA:3664] [KO:K10154] (OFC7) NECTIN1 [HSA:5818] [KO:K06081] (OFC8/RHS) TP63 [HSA:8626] [KO:K10149] (OFC10) SUMO1 [HSA:7341] [KO:K12160] (OFC11) BMP4 [HSA:652] [KO:K04662] (OFC15) DLX4 [HSA:1748] [KO:K09314] |
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| H00611 | Popliteal pterygium syndrome (PPS) | Popliteal pterygium syndrome (PPS) is an autosomal dominant orofacial cleft syndrome caused by IRF6 mutations. Clinical manifestations of PPS include cleft lip and/or palate in association with webcausing ... | Congenital malformation | IRF6 [HSA:3664] [KO:K10154] | |
| H01927 | Van der Woude syndrome | ... syndrome (PPS) is an allelic syndrome of VWS. These syndromes emanate mainly from etiologic variants in IRF6 gene, though GRHL3 has been shown to be mutated in about 5% of VWS patients that lack etiologic ... | Congenital malformation |
(VWS1) IRF6 [HSA:3664] [KO:K10154] (VWS2) GRHL3 [HSA:57822] [KO:K09275] |
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