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H00740
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Ichthyosis follicularis, alopecia, and photophobia syndrome
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... involved in endoplasmic reticulum stress response. Recently, it has been reported that mutations in SREBF1, encoding sterol regulatory element binding transcription factor 1, cause autosomal dominant IFAP ...
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Congenital malformation
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(IFAP1) MBTPS2 [HSA:51360] [KO:K07765]
(IFAP2) SREBF1 [HSA:6720] [KO:K07197]
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H02944
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Hereditary mucoepithelial dysplasia
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... intertrigo, and involvement of the conjunctival mucosa. It has been reported that HMD is associated with mutations in SREBF1, a transcription factor that controls cholesterol and fatty acid synthesis.
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Congenital malformation
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SREBF1 [HSA:6720] [KO:K07197]
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