Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report.
|
29618326 |
2018 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.
|
30414627 |
2018 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
|
28459997 |
2017 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
|
28459997 |
2017 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
Transcriptome-wide effects of a POLR3A gene mutation in patients with an unusual phenotype of striatal involvement.
|
27506977 |
2016 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
BEFREE |
POLR3A, on the other hand, is an autosomal gene, and its mutations cause a recessive form of a hypomyelination with leukodystrophy disease, also known as 4H syndrome, characterized by congenital Hypomyelination with thinning of the corpus callosum, Hypodontia and Hypogonadotropic Hypogonadism.
|
26096995 |
2015 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
|
25655951 |
2015 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
MRI findings are distinct between patients with POLR3A and 3B mutations, and can provide important clues for the diagnosis, as these patients sometimes have no clinical symptoms suggesting 4H syndrome.
|
23643445 |
2014 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.
|
23694757 |
2014 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism.
|
23355746 |
2013 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
We report the clinical, neuroradiologic, and neuropathologic findings of a patient affected by 4H syndrome with confirmed POLR3A mutations.
|
23242285 |
2013 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III.
|
22819058 |
2012 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
|
21855841 |
2011 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
|
21855841 |
2011 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
|
21855841 |
2011 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.
|
22036171 |
2011 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
GermlineCausalMutation
|
disease |
ORPHANET |
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
|
21855841 |
2011 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
Clear cell sarcoma of tendons and aponeurosis--a case report.
|
614258 |
1977 |
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|