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Entry Name Description Category Pathway Gene
H00296 Defects in RecQ helicases ... Werner's syndrome (WS), and Rothmund-Thomson syndrome (RTS), which are caused by mutations in BLM, WRN and RECQL4, respectively. Despite the apparent structural and biochemical similarities between the BLM, WRN ... Congenital malformation BLM [HSA:641] [KO:K10901]
WRN [HSA:7486] [KO:K10900]
RECQL4 [HSA:9401] [KO:K10730]
H00458 Syndromic craniosynostoses Craniosynostosis is the premature fusion of the cranial sutures and secondary distortion of skull shape. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial ... Congenital malformation (Pfeiffer) FGFR1 [HSA:2260] [KO:K04362]
(Apert, Pfeiffer, Crouzon, Jackson-Weiss, Beare-Stevenson, Antley-Bixler) FGFR2 [HSA:2263] [KO:K05093]
(Muenke) FGFR3 [HSA:2261] [KO:K05094]
(Saethre-Chotzen) TWIST1 [HSA:7291] [KO:K09069]
(Antley-Bixler) POR [HSA:5447] [KO:K00327]
(Carpenter) RAB23 [HSA:51715] [KO:K06234]
(Craniofrontonasal) EFNB1 [HSA:1947] [KO:K05463]
(Noonan) KRAS [HSA:3845] [KO:K07827]
(Baller-Gerold) RECQL4 [HSA:9401] [KO:K10730]
H00965 RAPADILINO syndrome ... normal intelligence. It is an autosomal recessive disorder caused by mutations in human DNA helicase RECQL4. Unlike its allelic disorders Rothmund-Thomson syndrome and Baller-Gerold syndrome, RAPADILINO ... Congenital malformation RECQL4 [HSA:9401] [KO:K10730]
H01734 Rothmund-Thomson syndrome ... anaphase-promoting complex, cause RTS1. RTS type 2, which is defined by the presence of bi-allelic mutations in RECQL4, is characterized by increased cancer susceptibility. RECQL4 is shown to be important protein ... Congenital malformation (RTS1) ANAPC1 [HSA:64682] [KO:K03348]
(RTS2) RECQL4 [HSA:9401] [KO:K10730]
(RTS3) CRIPT [HSA:9419] [KO:K24826]
(RTS4) DNA2 [HSA:1763] [KO:K10742]
H01993 Baller-Gerold syndrome ... autosomal recessive condition with radial aplasia and craniosynostosis. BGS is caused by mutations in the RECQL4 gene that encodes a member of the RecQ helicase family. The RECQL4 plays a role in the initiation ... Congenital malformation RECQL4 [HSA:9401] [KO:K10730]
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