TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Disease: Dystonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 Biomarker phenotype BEFREE Dystonia type 4 (DYT4) was first described in a large family from Heacham in Norfolk with an autosomal dominantly inherited whispering dysphonia, generalized dystonia, and a characteristic hobby horse ataxic gait. 23424103 2013
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation phenotype BEFREE Dystonia-4 (DYT4) is another autosomal dominant dystonia that is characterized by onset in the second to third decade of progressive laryngeal dysphonia. 29127012 2018
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 Biomarker phenotype BEFREE DYT4 is a familial form of dystonia unrelated to known dystonia genes and loci. 21956287 2011
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation phenotype BEFREE A mutation in TUBB4 causes DYT4 dystonia in this Australian family with so-called whispering dysphonia, and other mutations in TUBB4 may contribute to spasmodic dysphonia. 23595291 2013
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation phenotype BEFREE A potentially pathogenic rare 3bp-in-frame deletion was found in a patient with cervical dystonia but no copy number variations were detected in this study, suggesting that TUBB4A mutations exceedingly rarely contribute to the etiology of isolated dystonia. 28655586 2017
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 AlteredExpression phenotype BEFREE Consistent with H-ABC's clinical presentation, TUBB4A is highly expressed in neurons, and a recent report has shown that an N-terminal alteration is associated with a heritable dystonia. 23582646 2013
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 Biomarker phenotype GENOMICS_ENGLAND Consistent with H-ABC's clinical presentation, TUBB4A is highly expressed in neurons, and a recent report has shown that an N-terminal alteration is associated with a heritable dystonia. 23582646 2013
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation phenotype BEFREE Conversely, the phenotype associated with TUBB4A mutations expanded from that of isolated dystonia to a syndrome of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC syndrome). 25643588 2015
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 Biomarker phenotype GENOMICS_ENGLAND Exome sequencing in undiagnosed inherited and sporadic ataxias. 25497598 2015
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 Biomarker phenotype BEFREE Furthermore, model systems are needed to study the biology of PRRT2, CIZ1, ANO3, Gαolf, and TUBB4A in the context of dystonia. 24952478 2014
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation phenotype BEFREE High-resolution melting and Sanger sequencing were used to inspect the entire coding region of TUBB4A in 575 subjects with primary laryngeal, segmental, or generalized dystonia. 24598712 2014
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation phenotype BEFREE However, three of these putative new genes still await independent confirmation (TUBB4/DYT4; CIZ1/DYT23; ANO3/DYT24) and only 11 'DYT' genes have been unequivocally demonstrated to cause different forms of dystonia. 24262166 2014
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation phenotype CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation phenotype BEFREE It is highly likely that there is a disease continuum associated with TUBB4A mutations, of which hypomyelination with atrophy of the basal ganglia and cerebellum and dystonia type 4 are the extremes. 24785942 2014
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 GeneticVariation phenotype BEFREE Mutations in TUBB4A have been associated with a spectrum of neurological conditions, ranging from the severe hypomyelination with atrophy of the basal ganglia and cerebellum syndrome to the clinically milder dystonia type 4. 25772097 2015
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 Biomarker phenotype GENOMICS_ENGLAND Mutations in the TUBB4A gene have been identified so far in two neurodegenerative disorders with extremely different clinical features and course: whispering dysphonia, also known as dystonia type 4 (DYT4), and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). 24526230 2014
CUI: C0013421
Disease: Dystonia
Dystonia 		0.500 Biomarker phenotype BEFREE Rather, isolated dystonia as seen in DYT4 might be an exceptional feature occurring in the heterogeneous phenotypic spectrum due to TUBB4A mutations. 26318963 2015