Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: FLNA (Hsa)
Disease
Source: DOID:1826
Definition: A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.
Genes: FLNA (Hsa)
Disease
Source: DOID:988
Definition: A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole.
Genes: FLNA (Hsa)
Disease
Source: DOID:2256
Definition: A bone development disease that results_in defective development of cartilage or bone.
Genes: FLNA (Hsa)
Disease
Source: DOID:0111788
Definition: An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28.
Genes: FLNA (Hsa)
Source: DOID:0111765
Definition: A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28.
Genes: FLNA (Hsa)
Disease
Source: DOID:423
Definition: A muscular disease in which the muscle fibers do not function resulting in muscular weakness.
Genes: FLNA (Hsa)
Disease
Source: DOID:2340
Definition: A synostosis that results_in premature fusion located_in skull.
Genes: FLNA (Hsa)
Source: DOID:0050454
Definition: A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain.
Genes: FLNA (Hsa)
Source: DOID:0111786
Definition: A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28.
Genes: FLNA (Hsa)
Disease
Source: DOID:14004
Definition: An aortic aneurysm that is located_in the thoracic aorta.
Genes: FLNA (Hsa)
Disease
Source: DOID:13515
Definition: A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body.
Genes: FLNA (Hsa)
Disease
Source: DOID:0080096
Definition: A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32.
Genes: FLNA (Hsa)
Disease
Source: DOID:0111190
Definition: A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32.
Genes: FLNA (Hsa)
Disease
Source: DOID:0112149
Definition: A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28.
Genes: FLNA (Hsa)
Source: DOID:0111783
Definition: An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28.
Genes: FLNA (Hsa)
Source: DOID:0111784
Definition: An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28.
Genes: FLNA (Hsa)
Source: DOID:0080681
Definition: An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28.
Genes: FLNA (Hsa)
Source: DOID:0111782
Definition: A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28.
Genes: FLNA (Hsa)