Lattice corneal dystrophy Type II
|
|
0.040 |
GeneticVariation
|
BEFREE |
Hereditary gelsolin-related amyloidosis (AGel amyloidosis) is a systemic disorder caused by a G654A or G654T mutation in the gene coding for gelsolin, an actin-modulating protein.
|
10744159 |
2000 |
Lattice corneal dystrophy Type II
|
|
0.040 |
GeneticVariation
|
BEFREE |
Gelsolin-related amyloidosis (AGel amyloidosis) is a rare autosomal dominant disorder, reported worldwide in kindreds carrying a G654A or G654T gelsolin gene mutation.
|
10389096 |
1999 |
Lattice corneal dystrophy Type II
|
|
0.040 |
GeneticVariation
|
BEFREE |
Gelsolin-related amyloidosis (familial amyloidosis, Finnish type) is a rare disorder, reported worldwide in kindreds carrying a G654A or G654T gelsolin gene mutation.
|
10072044 |
1999 |
Lattice corneal dystrophy Type II
|
|
0.040 |
GeneticVariation
|
BEFREE |
Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan.
|
7550233 |
1995 |
Amyloidosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Hereditary gelsolin amyloidosis (AGel amyloidosis) is a systemic disorder caused by a G654A or G654T gelsolin mutation, reported from Europe, North America, and Japan.
|
17453628 |
2007 |
Amyloidosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Hereditary gelsolin amyloidosis (AGel amyloidosis) is an age-associated systemic disease with global distribution, caused by a G654A or G654T gelsolin gene mutation.
|
15727635 |
2005 |
Amyloidosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Hereditary gelsolin amyloidosis (AGel amyloidosis) is a systemic disorder reported worldwide in kindreds with a G654A or G654T gelsolin gene mutation.
|
12071640 |
2002 |
Amyloidosis, Familial
|
|
0.020 |
GeneticVariation
|
BEFREE |
A point mutation (G654A) in the gelsolin gene causes a dominantly inherited systemic amyloidosis called familial amyloidosis of the Finnish type (FAF).
|
10463954 |
1999 |
Amyloidosis, Familial
|
|
0.020 |
GeneticVariation
|
BEFREE |
Identification of the circulating amyloid precursor and other gelsolin metabolites in patients with G654A mutation in the gelsolin gene (Finnish familial amyloidosis): pathogenetic and diagnostic implications.
|
9354764 |
1997 |
Hypotension, Orthostatic
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report a Japanese FAF patient with a missense mutation (G654A), presenting multiple cranial nerve symptoms, corneal lattice dystrophy, carpal tunnel syndrome and orthostatic hypotension.
|
19422734 |
2010 |
Cutis Laxa
|
|
0.010 |
GeneticVariation
|
BEFREE |
AGel amyloidosis caused by a gelsolin G654A gene mutation is autosomally dominantly inherited and presents typically in the 30s with progressive corneal lattice dystrophy, followed by cutis laxa and cranial polyneuropathy.
|
19701715 |
2009 |
Polyneuropathy
|
|
0.010 |
GeneticVariation
|
BEFREE |
AGel amyloidosis caused by a gelsolin G654A gene mutation is autosomally dominantly inherited and presents typically in the 30s with progressive corneal lattice dystrophy, followed by cutis laxa and cranial polyneuropathy.
|
19701715 |
2009 |
Blood Coagulation Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results suggest that, in addition to amyloid deposition, the G654A gelsolin gene defect causes altered gelsolin-mediated cellular mechanisms, which may contribute, e.g., to bleeding tendency in AGel amyloidosis patients.
|
10744159 |
2000 |
Sleep Apnea Syndromes
|
|
0.010 |
GeneticVariation
|
BEFREE |
To evaluate whether sleep apnoea is present we performed nocturnal sleep recordings, cephalometric and spirometric analyses and multiple sleep latency tests (MSLT) in five snoring patients with a G654A gelsolin gene mutation.
|
10389096 |
1999 |
Inherited systemic amyloidosis
|
|
0.010 |
GeneticVariation
|
BEFREE |
A point mutation (G654A) in the gelsolin gene causes a dominantly inherited systemic amyloidosis called familial amyloidosis of the Finnish type (FAF).
|
10463954 |
1999 |