TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1851943
Disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 		0.720 GeneticVariation disease BEFREE Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum ranging from hereditary generalized dystonia with whispering dysphonia (DYT4) to the leukodystrophy hypomyelination syndrome with atrophy of the basal ganglia and cerebellum (H-ABC). 28655586 2017
CUI: C1851943
Disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder) 		0.720 GeneticVariation disease BEFREE We present a study of the cellular effects of TUBB4A mutations responsible for H-ABC (p.Asp249Asn), DYT4 (p.Arg2Gly), a severe combined phenotype with hypomyelination and encephalopathy (p.Asn414Lys), as well as milder phenotypes causing isolated hypomyelination (p.Val255Ile and p.Arg282Pro). 28973395 2017
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary 		0.620 Biomarker disease BEFREE TUBB4A mutations also have been described as causative of DYT4 ("hereditary whispering dysphonia"). 25545912 2015
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary 		0.620 GeneticVariation disease BEFREE After the recent identification of TUBB4A mutation as the genetic basis of the disease, the clinical and neuroimaging phenotype related to TUBB4A mutations expanded, ranging from primary dystonia type 4 with normal MRI to severe H-ABC cases. 26643067 2016
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 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 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 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 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 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 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 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 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
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 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 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 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: C1527344
Disease: Dysphonia
Dysphonia 		0.170 GeneticVariation phenotype BEFREE Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum ranging from hereditary generalized dystonia with whispering dysphonia (DYT4) to the leukodystrophy hypomyelination syndrome with atrophy of the basal ganglia and cerebellum (H-ABC). 28655586 2017
CUI: C1527344
Disease: Dysphonia
Dysphonia 		0.170 GeneticVariation phenotype BEFREE Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal. 21956287 2011
CUI: C1527344
Disease: Dysphonia
Dysphonia 		0.170 GeneticVariation phenotype BEFREE Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum of diseases ranging from hereditary generalized dystonia with whispering dysphonia (DYT-TUBB4A) and hereditary spastic paraplegia (HSP) to leukodystrophy hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). 30079973 2018
CUI: C1527344
Disease: Dysphonia
Dysphonia 		0.170 Biomarker 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: C1527344
Disease: Dysphonia
Dysphonia 		0.170 GeneticVariation phenotype BEFREE No pathogenic variants, including the exon 1 variant (c.4C>G) identified in the DYT4 whispering dysphonia kindred, were found in this study. 24598712 2014
CUI: C1527344
Disease: Dysphonia
Dysphonia 		0.170 GeneticVariation phenotype BEFREE Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. 23595291 2013
CUI: C1527344
Disease: Dysphonia
Dysphonia 		0.170 Biomarker phenotype BEFREE 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: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.140 GeneticVariation disease BEFREE Mutations in TUBB4A have been identified to cause a wide phenotypic spectrum of diseases ranging from hereditary generalized dystonia with whispering dysphonia (DYT-TUBB4A) and hereditary spastic paraplegia (HSP) to leukodystrophy hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). 30079973 2018