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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00459 | Synpolydactyly | ... and fourth fingers. Mutation in HOXD13 induces synpolydactyly. Synpolydactyly 2 is associated with metacarpal and metatarsal synostoses. Synpolydactyly 2 is very rare and caused by mutations in FBLN1. | Congenital malformation |
(SPD1) HOXD13 [HSA:3239] [KO:K09298] (SPD2) FBLN1 [HSA:2192] [KO:K17307] |
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| H00484 | Multiple synostosis syndrome | ... fusion of the proximal interphalangeal joints. Multiple synostosis syndrome (SYNS) is a more severe form of proximal symphalangism with additional bone fusions involving carpal, tarsal, and other joints. | Congenital malformation |
(SYNS1) NOG [HSA:9241] [KO:K04658] (SYNS2) GDF5 [HSA:8200] [KO:K04664] (SYNS3) FGF9 [HSA:2254] [KO:K04358] (SYNS4) GDF6 [HSA:392255] [KO:K20012] |
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| H00499 | Spondylocarpotarsal synostosis syndrome | Spondylocarpotarsal synostosis syndrome is an autosomal recessive disease characterized by the malsegmentation of vertebrae and the fusion of carpal and tarsal bones. Retinal anomalies and hearing loss ... | Congenital malformation | FLNB (nonsense mutation) [HSA:2317] [KO:K27392] | |
| H00778 | Tarsal-carpal coalition syndrome | Tarsal-carpal coalition syndrome (TCC) is a condition characterized by fusion of the carpals, tarsals, and phalanges in addition to shortened first metacarpals, brachydactyly, and humeroradial fusion. ... | Congenital malformation | NOG [HSA:9241] [KO:K04658] | |
| H01351 | Spastic ataxia | Spastic ataxia (SPAX) is a heterogeneous group of progressive neurodegenerative disorders, characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and ... | Neurodegenerative disease |
(SPAX1) VAMP1 [HSA:6843] [KO:K08510] (SPAX2) KIF1C [HSA:10749] [KO:K10392] (SPAX3/ARSAL) MARS2 [HSA:92935] [KO:K01874] (SPAX4) MTPAP [HSA:55149] [KO:K18060] (SPAX5) AFG3L2 [HSA:10939] [KO:K08956] (SPAX6/ARSACS) SACS [HSA:26278] [KO:K17592] (SPAX8) NKX6-2 [HSA:84504] [KO:K09350] (SPAX9) CHP1 [HSA:11261] [KO:K17610] (SPAX10) COQ4 [HSA:51117] [KO:K18586] |
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| H01854 | Metacarpal 4-5 fusion | ... limb malformation showing partial clinical overlap with MF4, in which metacarpal but additionally metatarsal synostosis coexists with other hand and foot abnormalities clearly distinguishing the two conditions | Congenital malformation | FGF16 [HSA:8823] [KO:K04358] | |
| H01865 | Multicentric carpotarsal osteolysis syndrome | Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal dysplasia characterized by progressive bone resorption (osteolysis), predominantly (although not exclusively) of the carpal and tarsal ... | Musculoskeletal disease | MAFB [HSA:9935] [KO:K09036] | |
| H01990 |
Muenke syndrome Muenke craniosynostosis |
... syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the mutation P250R in FGFR3 gene. | Congenital malformation | FGFR3 [HSA:2261] [KO:K05094] | |
| H02226 |
Cardiospondylocarpofacial syndrome Forney syndrome |
... syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve ... | Congenital malformation | MAP3K7 [HSA:6885] [KO:K04427] | |
| H02717 | Contractures, pterygia, and spondylocarpotarsal fusion syndrome | Contractures, pterygia, and spondylocarpotarsal fusion syndrome (CPSFS) is a myosinopathy characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or ... | Congenital malformation | MYH3 [HSA:4621] [KO:K24220] |
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