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Entry Name Description Category Pathway Gene
H00503 Ellis-van Creveld syndrome ... and nails. Congenital cardiovascular malformations are seen in 60% of the cases. Loss-of-function mutations in EVC1 or EVC2 genes and resulting hedgehog signaling defects are causative of this disease. Congenital malformation EVC1 [HSA:2121] [KO:K19605]
EVC2 [HSA:132884] [KO:K19608]
H01376 Acrofacial dysostosis Acrofacial dysostosis (AFD) is a heterogeneous group of disorders combining mandibulofacial dysostosis (micrognathia and ear anomalies) with limb defects. The predominantly preaxial form is called Nager ... Congenital malformation (POADS) DHODH [HSA:1723] [KO:K00254]
(AFD1) SF3B4 [HSA:10262] [KO:K12831]
(WAD) EVC2 [HSA:132884] [KO:K19608]
(WAD) EVC [HSA:2121] [KO:K19605]
(AFDCIN) POLR1A [HSA:25885] [KO:K02999]
H02158 Weyers acrofacial dysostosis
Curry-Hall syndrome 		... nail dystrophy, postaxial polydactyly, and mild short stature. It is caused by mutations in EVC1 or EVC2 genes. Both EVC1 and EVC2 localize to the basal bodies of primary cilia and play a role in hedgehog ... Congenital malformation EVC1 [HSA:2121] [KO:K19605]
EVC2 [HSA:132884] [KO:K19608]
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