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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] |
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| 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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