FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Bilateral Periventricular Nodular Heterotopia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		0.400 Biomarker disease BEFREE Phenotypic and imaging features of FLNA-negative patients with bilateral periventricular nodular heterotopia and epilepsy. 26340046 2015
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		0.400 GeneticVariation disease BEFREE The X-linked dominant form of BPNH, related to mutations in FLNA encoding filamin A, is the major cause of BPNH, causing prenatal and neonatal lethality in males that explain the excess of affected women. 22366253 2012
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		0.400 GeneticVariation disease BEFREE FLNA p.V528M was initially detected in a female autopsy case of X-linked bilateral periventricular nodular heterotopia (BPNH), a neuronal migration disorder characterized by subependymal nodules of gray matter. 20844545 2010
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		0.400 GeneticVariation disease BEFREE Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations. 19917821 2009
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		0.400 GeneticVariation disease BEFREE A new missense mutation found in the FLNA gene in a family with bilateral periventricular nodular heterotopia (BPNH) alters the splicing process. 18427995 2008
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		0.400 GeneticVariation disease BEFREE Bilateral periventricular nodular heterotopia is most commonly an X-linked disorder that involves mutations in the filamin A (FLNA) gene, but an autosomal recessive form and sporadic forms have been identified. 18660478 2008
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		0.400 GeneticVariation disease BEFREE Human Filamin A gene (FLNA) mutations are associated with classical X-linked bilateral periventricular nodular heterotopia (PNH), featuring contiguous heterotopic nodules, mega cisterna magna, cardiovascular malformations and epilepsy. 16684786 2006
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		0.400 Biomarker disease BEFREE This has enabled us to question the suggestion that duplication of the gene SOX3 is the cause of hypopituitarism and that duplication of Filamin A is the cause of bilateral periventricular nodular heterotopia/mental retardation syndrome (BPNH/MR). 15338277 2004
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		0.400 GeneticVariation disease BEFREE Additional, possibly autosomal recessive gene(s) are likely to be involved in causing BPNH non-linked to FLN1. 12185771 2002
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		0.400 Biomarker disease CTD_human Missense mutations and distal truncations consistent with partial loss of FLN1 function cause familial BPNH with the classical clinical phenotype including epilepsy and mild mental retardation, if any. 11914408 2002
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		0.400 GeneticVariation disease BEFREE We report here the histopathological features of an autopsy case of BPNH with widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex, in whom we found a novel exon 11 (Val528Met) filamin 1 mutation. 12410386 2002
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		0.400 GeneticVariation disease BEFREE Missense mutations and distal truncations consistent with partial loss of FLN1 function cause familial BPNH with the classical clinical phenotype including epilepsy and mild mental retardation, if any. 11914408 2002
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		0.400 GeneticVariation disease BEFREE Additional, possibly autosomal recessive gene(s) are likely to be involved in causing BPNH non-linked to FLN1. 11749114 2001
CUI: C4551969
Disease: Bilateral Periventricular Nodular Heterotopia
Bilateral Periventricular Nodular Heterotopia 		0.400 Biomarker disease CTD_human Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. 9883725 1998