Schnyder crystalline corneal dystrophy
|
1.000 |
Biomarker
|
disease |
BEFREE |
Schnyder corneal dystrophy-associated UBIAD1 inhibits ER-associated degradation of HMG CoA reductase in mice.
|
30785396 |
2019 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The sister of the proband carried c.569T>C in UBIAD1 and had corneal crystal deposition in her anterior stroma consistent with the diagnosis of Schnyder corneal dystrophy.
|
30950897 |
2019 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase.
|
31323021 |
2019 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing for the UBIAD1 gene for Schnyder corneal dystrophy was negative.
|
30575622 |
2019 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disease in humans, characterized by abnormal deposition of cholesterol and phospholipids in cornea caused by mutations in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene.
|
29977031 |
2018 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants.
|
30084067 |
2018 |
Schnyder crystalline corneal dystrophy
|
1.000 |
Biomarker
|
disease |
MGD |
Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disease in humans, characterized by abnormal deposition of cholesterol and phospholipids in cornea caused by mutations in the UbiA prenyltransferase domain containing 1 (UBIAD1) gene.
|
29977031 |
2018 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy.
|
29319599 |
2018 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutant UBIAD1 variants associated with Schnyder corneal dystrophy (SCD), a human disorder characterized by corneal accumulation of cholesterol, resist GGpp-induced release from reductase and remain sequestered in the ER to block reductase ERAD.
|
29167270 |
2018 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutant forms of UBIAD1 associated with Schnyder corneal dystrophy (SCD), a human eye disease characterized by corneal accumulation of cholesterol, are sequestered in the ER and block reductase degradation.
|
27121042 |
2016 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to analyze the corneal morphology features and define mutations in the UbiA prenyltransferase domain-containing 1 (UBIAD1) gene in patients with Schnyder corneal dystrophy from a Polish population.
|
24608252 |
2014 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Schnyder corneal dystrophy (SCD) is an autosomal dominant disease characterized by germline variants in UBIAD1 introducing missense alterations leading to deposition of cholesterol in the cornea, progressive opacification, and loss of visual acuity.
|
23169578 |
2013 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Ubiad1 is an antioxidant enzyme that regulates eNOS activity by CoQ10 synthesis.
|
23374346 |
2013 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Schnyder corneal dystrophy (SCD) is an autosomal dominant disease characterized by germline variants in UBIAD1 introducing missense alterations leading to deposition of cholesterol in the cornea, progressive opacification, and loss of visual acuity.
|
23169578 |
2013 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Schnyder corneal dystrophy (SCD) is an autosomal dominant disease characterized by germline variants in UBIAD1 introducing missense alterations leading to deposition of cholesterol in the cornea, progressive opacification, and loss of visual acuity.
|
23169578 |
2013 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.
|
22065921 |
2011 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the UBIAD1 gene in a Han Chinese family with Schnyder corneal dystrophy.
|
22065921 |
2011 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Natural TERE1 mutations associate with Schnyder's corneal dystrophy, characterized by lipid accumulation.
|
21740188 |
2011 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.
|
20505825 |
2010 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.
|
20505825 |
2010 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy.
|
20489584 |
2010 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy.
|
20489584 |
2010 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Additionally, cosegregation of the mutation (Y174C) and SCCD was confirmed in 1 pedigree, indicating that the mutation of the UBIAD1 gene is causative for SCCD.
|
19394700 |
2009 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
We report on a novel heterozygous mutation of UBIAD1, G98S, in two patients with SCCD.
|
19649163 |
2009 |
Schnyder crystalline corneal dystrophy
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy.
|
19429578 |
2009 |