Ifap syndrome 1, with or without bresheck syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
IFAP syndrome 1, with or without Bresheck syndrome
MONDO_0019414
MBTPS2 Causal
19361614 21179107 21426410 22105905 23316014 24090718
ClinGen, Open Targets
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Ifap syndrome 1, with or without bresheck syndrome.
5 View disease cluster →
Brain anomalies ectodermal dysplasia skeletal malformations hirschsprung disease syndrome 1 shared geneMBTPS2 Related via 1 shared gene including MBTPS2. Bresek syndrome 1 shared geneMBTPS2 Related via 1 shared gene including MBTPS2. Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia 1 shared geneMBTPS2 Related via 1 shared gene including MBTPS2. Keratosis follicularis spinulosa decalvans, x-linked 1 shared geneMBTPS2 Related via 1 shared gene including MBTPS2. Olmsted syndrome, x-linked 1 shared geneMBTPS2 Related via 1 shared gene including MBTPS2.