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Entry Name Description Category Pathway Gene
H00502 Pallister-Hall syndrome ... syndrome (PHS) is characterized by polydactyly, hypothalamic hamartoma, and malformations of other parts of the body. Cases with severe malformations are neonatally lethal. PHS is caused by GLI3 mutations. Congenital malformation GLI3 [HSA:2737] [KO:K06230]
H01226 Polysyndactyly
Preaxial polydactyly type IV
... preaxial polydactyly type IV, is a rare autosomal dominant limb malformation, caused by mutations in the GLI3 gene. It is comprising duplicated halluces, with syndactyly of preaxial toes, broad or duplicated ... Congenital malformation GLI3 [HSA:2737] [KO:K06230]
H01852 Postaxial polydactyly ... either autosomal dominant or recessive manner of inheritance. Given that both isolated PAPA1 and PAPB are caused by the mutations in the GLI3 gene, PAPB may be considered as a variant of PAPA1 in genetics. Congenital malformation (PAPA1,PAPB) GLI3 [HSA:2737] [KO:K06230]
(PAPA6) ZNF141 [HSA:7700] [KO:K09228]
(PAPA7) IQCE [HSA:23288] [KO:K24677]
(PAPA8) GLI1 [HSA:2735] [KO:K16797]
(PAPA9) FAM92A [HSA:137392] [KO:K23868]
(PAPA10) KIAA0825 [HSA:285600] [KO:K24554]
H02161 Greig cephalopolysyndactyly syndrome ... hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. Congenital malformation GLI3 [HSA:2737] [KO:K06230]
H02332 Preaxial polydactyly ... (PPD) refers to polydactyly where the additional digit grows toward the first digit of the hand or foot. Mutations in genes including GLI1, GLI3 and SHH/ZRS, involved in Hedgehog pathway, result in PPD. Congenital malformation (PPD1) GLI1 [HSA:2735] [KO:K16797]
(PPD2) ZRS/LMBR1 [HSA:64327] [KO:K25217]
(PPD4) GLI3 [HSA:2737] [KO:K06230]
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