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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00270 | Periventricular nodular heterotopia | Periventricular nodular heterotopia (PVNH) is a malformation of neuronal migration in which a subset of neurons fails to migrate into the developing cerebral cortex and composes heterotopic nodules along ... | Congenital malformation |
(PVNH1) FLNA [HSA:2316] [KO:K04437] (PVNH2) ARFGEF2 [HSA:10564] [KO:K18442] (PVNH6) ERMARD [HSA:55780] [KO:K25139] (PVNH7) NEDD4L [HSA:23327] [KO:K13305] (PVNH8) ARF1 [HSA:375] [KO:K07937] (PVNH9) MAP1B [HSA:4131] [KO:K10429] |
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| H00456 | Fronto-otopalatodigital syndromes | Fronto-Otopalatodigital Osteodysplasia comprises four disorders that arise from missense mutations in FLNA encoding the actin-binding cytoskeletal protein filamin A. The disorders are inherited in X-linked ... | Congenital malformation | FLNA [HSA:2316] [KO:K04437] | |
| H00894 |
FG syndrome Opitz-Kaveggia syndrome |
... chromosome. A recurrent missense mutation in the MED12 gene has been identified as the cause for the subset of FGS cases. Filamin A gene (FLNA) and CASK gene mutations could be another causes of FG syndrome. | Congenital malformation |
(FGS1) MED12 [HSA:9968] [KO:K15162] (FGS2) FLNA [HSA:2316] [KO:K04437] (FGS4) CASK [HSA:8573] [KO:K06103] |
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| H01276 |
Chronic idiopathic intestinal pseudo-obstruction CIIP |
Chronic idiopathic intestinal pseudo-obstruction (CIIP) is a rare, often fatal syndrome, caused by a heterogeneous group of enteric neuromuscular diseases that result in a severe abnormality of gastrointestinal ... | Digestive system disease | FLNA [HSA:2316] [KO:K04437] | |
| H02227 | Frontometaphyseal dysplasia | ... affecting the long bones and skull. The cause of FMD in some individuals is mutations in the X-linked gene, FLNA. Recently, it has been reported that mutations in MAP3K7 that alter the activity of the TAK1 signaling ... | Congenital malformation |
(FMD1) FLNA [HSA:2316] [KO:K04437] (FMD2) MAP3K7 [HSA:6885] [KO:K04427] |
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| H02229 |
Terminal osseous dysplasia Terminal osseous dysplasia and pigmentary defects |
... male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma with onset in female infancy. TOD is caused by a mutation in the FLNA gene. | Congenital malformation | FLNA [HSA:2316] [KO:K04437] | |
| H02230 |
X-linked cardiac valvular dysplasia X-linked myxomatous valvular dystrophy |
... dystrophy frequently associated with degeneration of the aortic valves affecting males and, to a lower severity, females. It has been reported that mutations in FLNA encoding filamin A cause this disease. | Congenital malformation | FLNA [HSA:2316] [KO:K04437] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |