FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 GeneticVariation disease BEFREE Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. 23032111 2013
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 Biomarker disease RGD A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A. 22076441 2012
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 Biomarker disease GENOMICS_ENGLAND Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. 17357080 2007
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 GeneticVariation disease UNIPROT A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. 16299064 2006
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 Biomarker disease MGD Cardiac malformations and midline skeletal defects in mice lacking filamin A. 16825286 2006
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 GeneticVariation disease UNIPROT Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 15994863 2006
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 GeneticVariation disease UNIPROT Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 15668422 2005
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 GeneticVariation disease UNIPROT Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. 15249610 2004
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 Biomarker disease GENOMICS_ENGLAND A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. 14988809 2004
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 GeneticVariation disease UNIPROT Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 11914408 2002
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 Biomarker disease CTD_human Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 11914408 2002
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 GeneticVariation disease UNIPROT Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. 11532987 2001
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 Biomarker disease CTD_human Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. 9883725 1998
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 GeneticVariation disease BEFREE • Loss-of-function mutation of filamin A is associated with X-linked inherited form of periventricular nodular heterotopia with or without epilepsy with most individuals affected being female. 30547349 2019
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 Biomarker disease BEFREE Progressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases. 30922288 2019
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 GeneticVariation disease BEFREE Frontometaphyseal dysplasia (FMD) is a dominant X-linked rare disease caused by mutations of FLNA. 29995760 2018
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 GeneticVariation disease BEFREE Phenotypic series of frontometaphyseal dysplasia also comprise variants in FLNA (type 1) and two patients with a heterozygous variant in TAB2 (type 3). 29467388 2018
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 GeneticVariation disease BEFREE A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. 29449050 2018
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 GeneticVariation disease BEFREE Structural and thermodynamic basis of a frontometaphyseal dysplasia mutation in filamin A. 28348077 2017
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 GeneticVariation disease BEFREE Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. 28498505 2017
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia 		0.700 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981 2017
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II 		0.700 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981 2017
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 GeneticVariation disease BEFREE Dominant mutations of the X-linked filamin A (<i>FLNA</i>) gene are responsible for filaminopathies A, which are rare disorders including brain periventricular nodular heterotopia, congenital intestinal pseudo-obstruction, cardiac valves or skeleton malformations, and often macrothrombocytopenia. 28428218 2017
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 Biomarker disease BEFREE Respiratory failure secondary to progressive obstructive lung disease during infancy may be the presenting phenotype of FLNA-associated periventricular nodular heterotopia. 28457522 2017
CUI: C1868720
Disease: Periventricular Nodular Heterotopia
Periventricular Nodular Heterotopia 		0.700 GeneticVariation disease BEFREE The unique constellation of clinical features in patients with NEDD4L mutations might help clinically distinguish them from patients with other genetic mutations including FLNA, which is a well-known causative gene of periventricular nodular heterotopia. 28515470 2017