POLR3A, RNA polymerase III subunit A, 11128

N. diseases: 219; N. variants: 47
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.750 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
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
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.750 CausalMutation disease CLINVAR Clear cell sarcoma of tendons and aponeurosis--a case report. 614258 1977
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.750 Biomarker disease CTD_human
CUI: C2676243
Disease: Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism 		0.750 Biomarker disease GENOMICS_ENGLAND