Xanthomatosis, Cerebrotendinous
|
0.800 |
Biomarker
|
disease |
BEFREE |
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder caused by defective sterol 27-hydroxylase activity.
|
29058268 |
2019 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
Biomarker
|
disease |
BEFREE |
Cerebrotendinous xanthomatosis (CTX) is an inborn error of cholesterol and bile acid metabolism, leading to neuropsychiatric and systemic manifestations.
|
30054180 |
2019 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
Biomarker
|
disease |
BEFREE |
Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance.
|
31796091 |
2019 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a new CTX family with a novel mutation in the CYP27A1 gene and analyze the clinical and molecular genetic features of CTX in Taiwan.
|
31706903 |
2019 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A total of 3 patients (1.8%) had biochemical and genetic confirmation of newly diagnosed CTX (plasma cholestanol level greater than 1.0 mg/dL, positive urine bile alcohol result, and disease-causative mutations in CYP27A1).
|
31536098 |
2019 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review.
|
29242796 |
2019 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
Biomarker
|
disease |
BEFREE |
Surprisingly, Cyp27a1 knockout mice (Cyp27a1-/-) do not present a CTX phenotype despite generating a similar global pattern of sterols.
|
30471425 |
2019 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
Biomarker
|
disease |
BEFREE |
Cerebrotendinous xanthomatosis (CTX) is a rare disorder due to defective sterol 27-hydroxylase causing a lack of chenodeoxycholic acid (CDCA) production and high plasma cholestanol levels.
|
30017468 |
2019 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cerebrotendinous Xanthomatosis (CTX) is a rare genetic disorder due to mutations in the CYP27A1 gene resulting in both systemic and neurologic manifestations from accumulation and deposition of cholestanol in tissues.
|
29731275 |
2018 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cerebrotendinous xanthomatosis (CTX, MIM 213700) is a rare autosomal recessive lipid storage disorder caused by CYP27A1 mutations.
|
29260356 |
2018 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism (IEM) due to mutations in the CYP27A1 gene.
|
28894950 |
2018 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Nationwide survey on cerebrotendinous xanthomatosis in Japan.
|
29321515 |
2018 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
|
28894950 |
2018 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.
|
29484516 |
2018 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Natural history of neurological abnormalities in cerebrotendinous xanthomatosis.
|
29484516 |
2018 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Nationwide survey on cerebrotendinous xanthomatosis in Japan.
|
29321515 |
2018 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing.
|
29269672 |
2018 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder due to mutations in CYP27A1, typically characterized by DN damage.
|
28168705 |
2017 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
Biomarker
|
disease |
BEFREE |
Cerebrotendinous xanthomatosis (CTX) is caused by defects in sterol 27-hydroxylase (CYP27A1, encoded by CYP27A1), a key enzyme in the bile acid synthesis pathway.
|
28937538 |
2017 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
Biomarker
|
disease |
BEFREE |
In humans, complete CYP27A1 deficiency leads to cerebrotendinous xanthomatosis or nodule formation in tendons and brain (preferentially in the cerebellum) rich in cholesterol and cholestanol, the 5α-saturated analog of cholesterol.
|
28190002 |
2017 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1.
|
28623566 |
2017 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1.
|
28623566 |
2017 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract.
|
27878435 |
2017 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by mutations in the cytochrome P450 CYP27A1 gene that result in production of a defective sterol 27-hydroxylase enzyme.
|
28980151 |
2017 |
Xanthomatosis, Cerebrotendinous
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Cerebrotendinous xanthomatosis (CTX) is a lipid-storage disease caused by mutations in CYP27A1.
|
28623566 |
2017 |