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H02226
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Cardiospondylocarpofacial syndrome
Forney syndrome
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... cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. It has been reported that mutations in MAP3K7, encoding TGF-beta-activated kinase 1 (TAK1), cause this disease.
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Congenital malformation
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MAP3K7 [HSA:6885] [KO:K04427]
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H02227
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Frontometaphyseal dysplasia
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... skull. The cause of FMD in some individuals is mutations in the X-linked gene, FLNA. Recently, it has been reported that mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause FMD.
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Congenital malformation
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(FMD1) FLNA [HSA:2316] [KO:K04437]
(FMD2) MAP3K7 [HSA:6885] [KO:K04427]
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