Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01393 |
Van Maldergem syndrome Cerebro-facio-articular syndrome |
... hypotonia, distinctive combination of minor facial anomalies, finger camptodactyly, and joint hyperlaxity. Biallelic mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 result in VMS. | Congenital malformation |
(VMLDS1) DCHS1 [HSA:8642] [KO:K16507] (VMLDS2) FAT4 [HSA:79633] [KO:K16669] |
|
| H02169 | Hennekam lymphangiectasia-lymphedema syndrome | ... extracellular matrix protein essential for the development of the lymphatic vasculature, have been found responsible for the syndrome. As a second cause for HKLLS, the mutations in FAT4 have been described. | Congenital malformation |
(HKLLS1) CCBE1 [HSA:147372] [KO:K19638] (HKLLS2) FAT4 [HSA:79633] [KO:K16669] (HKLLS3) ADAMTS3 [HSA:9508] [KO:K08619] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |