|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypic variability in a Spanish family with MNGIE.
|
12177387 |
2002 |
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.
|
10852545 |
2000 |
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
|
9924029 |
1999 |
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Mitochondrial DNA Depletion Syndrome 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Elevated plasma and urine thymidine and deoxyuridine, and genetic testing for TYMP variants, confirmed MNGIE.
|
30646848 |
2019 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare, complex mitochondrial disorder with variable phenotypes caused by a defect in the TYMP gene that codes for the thymidine phosphorylase enzyme.
|
31501730 |
2019 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A novel thymidine phosphorylase mutation in a Chinese MNGIE patient.
|
27709505 |
2017 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
She developed gastrointestinal symptoms, dysarthria, dysphagia and weakness, and MNGIE was considered due to its low TP levels and improvement after platelet transfusions.
|
28765176 |
2017 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
An atlas of genetic influences on human blood metabolites.
|
24816252 |
2014 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In the second patient, who had mitochondrial neurogastrointestinal encephalopathy (MNGIE), a maternally inherited 175-kb deletion and the paternally inherited point mutation c.261G>T (p.E87D) in the TYMP gene were identified.
|
23838601 |
2014 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Finally, TYMP mutations have been associated with mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease that typically presents before the age of 20 years with progressive gastrointestinal dysmotility and peripheral neuropathy.
|
23385875 |
2013 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This study reports an MNGIE patient with novel compound heterozygous missense mutations (Thr151Pro and Leu270Pro) in TYMP.
|
23685548 |
2013 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we report on the first MNGIE patient diagnosed in Bulgaria who carries a novel homozygous TYMP mutation (p.Leu347Pro).
|
23590577 |
2013 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.
|
21933806 |
2011 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathy.
|
21412940 |
2011 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This family with biochemically and genetically confirmed mitochondrial neurogastrointestinal encephalopathy syndrome uncharacteristically included heterozygous TYMP mutation carriers manifesting extra-ocular weakness.
|
21794876 |
2011 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Deficiency of the cytosolic enzyme thymidine phosphorylase (TP) causes a multisystem disorder called mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome.
|
20151198 |
2010 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
These findings indicate that a partial loss of thymidine phosphorylase activity may induce a late-onset and incomplete MNGIE phenotype.
|
19853446 |
2009 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We found pathogenic mutations on TP gene only in the MNGIE syndrome group: all the MNGIE patients were compound heterozygous or homozygous for mutations in the TP gene.
|
15781193 |
2005 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
A novel thymidine phosphorylase mutation in a Spanish MNGIE patient.
|
15607208 |
2005 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome (MNGIE) patients.
|
12529715 |
2003 |
|
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We have identified homozygous or compound-heterozygous thymidine phosphorylase gene mutations in 35 MNGIE patients (21 families) from diverse ethnic groups, including: Ashkenazi Jewish, Western European, Jamaican, Hispanic, and Japanese.
|
11166160 |
2001 |