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Entry Name Description Category Pathway Gene
H00523 Noonan syndrome and related disorders Noonan syndrome comprises genetically heterogeneous disorders that usually include postnatally reduced growth, distinctive facial dysmorphic features, and congenital heart defects and related disorders ... Congenital malformation (NS1/LPRD1) PTPN11 [HSA:5781] [KO:K07293]
(NS3/CFC2) KRAS [HSA:3845] [KO:K07827]
(NS4) SOS1 [HSA:6654] [KO:K03099]
(NS5/LPRD2) RAF1 [HSA:5894] [KO:K04366]
(NS6) NRAS [HSA:4893] [KO:K07828]
(NS7/LPRD3/CFC1) BRAF [HSA:673] [KO:K04365]
(NS8) RIT1 [HSA:6016] [KO:K07832]
(NS9) SOS2 [HSA:6655] [KO:K03099]
(NS10) LZTR1 [HSA:8216] [KO:K23330]
(CFC3) MAP2K1 [HSA:5604] [KO:K04368]
(CFC4) MAP2K2 [HSA:5605] [KO:K04369]
(CS) HRAS [HSA:3265] [KO:K02833]
(NFNS) NF1 [HSA:4763] [KO:K08052]
(NSLH1) SHOC2 [HSA:8036] [KO:K19613]
(NSLH2) PPP1CB [HSA:5500] [KO:K06269]
(CBL) CBL [HSA:867] [KO:K04707]
H02191 Noonan-like syndrome with loose anagen hair ... characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow growing. NSLH is caused by the mutations in SHOC2. Recently, the novel NSLH with mutations in PPP1CB has been identified. Congenital malformation (NSLH1) SHOC2 [HSA:8036] [KO:K19613]
(NSLH2) PPP1CB [HSA:5500] [KO:K06269]
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