HDAC4, histone deacetylase 4, 9759

N. diseases: 256; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		0.680 Biomarker disease BEFREE Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor. 30848064 2019
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		0.680 Biomarker disease GENOMICS_ENGLAND Albright hereditary osteodystrophy (AHO)-like syndrome is also known as brachydactyly-mental retardation syndrome (BDMR; OMIM 60040). 25402011 2015
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		0.680 GeneticVariation disease BEFREE Albright hereditary osteodystrophy (AHO)-like syndrome is also known as brachydactyly-mental retardation syndrome (BDMR; OMIM 60040). 25402011 2015
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		0.680 Biomarker disease BEFREE This is in contradistinction to previous reports that haploinsufficiency of HDAC4 is sufficient to cause BDMR. 24715439 2014
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		0.680 Biomarker disease BEFREE One of the patients showed a typical BDMR phenotype, and HDAC4 was included in the deletion region. 25329715 2014
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		0.680 Biomarker disease BEFREE We conclude that HDAC4 haploinsufficiency is responsible for psychomotor and behavioural abnormalities in combination with the BDMR syndrome-specific facial dysmorphism pattern and that these clinical features have a central diagnostic relevance. 23188045 2013
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		0.680 ChromosomalRearrangement disease ORPHANET We conclude that HDAC4 haploinsufficiency is responsible for psychomotor and behavioural abnormalities in combination with the BDMR syndrome-specific facial dysmorphism pattern and that these clinical features have a central diagnostic relevance. 23188045 2013
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		0.680 GeneticVariation disease BEFREE Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of chromosomal region 2q37 and characterized with AHO-like phenotype without any hormone resistance. 23645122 2013
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		0.680 GeneticVariation disease BEFREE Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype. 22753018 2012
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		0.680 Biomarker disease GENOMICS_ENGLAND Considering the known molecular function of HDAC4 and the mouse knockout phenotype, taken together with deletion or mutation of HDAC4 in multiple subjects with BDMR, we conclude that haploinsufficiency of HDAC4 results in brachydactyly mental retardation syndrome. 20691407 2010
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		0.680 ChromosomalRearrangement disease ORPHANET Considering the known molecular function of HDAC4 and the mouse knockout phenotype, taken together with deletion or mutation of HDAC4 in multiple subjects with BDMR, we conclude that haploinsufficiency of HDAC4 results in brachydactyly mental retardation syndrome. 20691407 2010
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		0.680 Biomarker disease BEFREE Considering the known molecular function of HDAC4 and the mouse knockout phenotype, taken together with deletion or mutation of HDAC4 in multiple subjects with BDMR, we conclude that haploinsufficiency of HDAC4 results in brachydactyly mental retardation syndrome. 20691407 2010
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		0.680 Biomarker disease CTD_human Considering the known molecular function of HDAC4 and the mouse knockout phenotype, taken together with deletion or mutation of HDAC4 in multiple subjects with BDMR, we conclude that haploinsufficiency of HDAC4 results in brachydactyly mental retardation syndrome. 20691407 2010
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		0.680 Biomarker disease GENOMICS_ENGLAND FARP2, HDLBP and PASK are downregulated in a patient with autism and 2q37.3 deletion syndrome. 19365831 2009
CUI: C2931817
Disease: Chromosome 2q37 deletion syndrome
Chromosome 2q37 deletion syndrome 		0.680 Biomarker disease GENOMICS_ENGLAND
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.440 Biomarker disease BEFREE Patients presented with BDE and short stature without intellectual disability, showing that haploinsufficiency of the HDAC4 critical region may lead to a spectrum of phenotypes, ranging from isolated brachydactyly type E to BDMR. 25402011 2015
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.440 GeneticVariation disease BEFREE Presented here are three individuals with haploinsufficiency of HDAC4 who have brachydactyly type E, non-dysmorphic facial features, and normal intelligence. 24715439 2014
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.440 Biomarker disease BEFREE Recently, histone deacetylase 4 (HDAC4) haploinsufficiency has been postulated to be the critical genetic mechanism responsible for the main clinical characteristics of the BDMR syndrome like developmental delay and behavioural abnormalities in combination with brachydactyly type E (BDE). 23188045 2013
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.440 GeneticVariation disease BEFREE Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype. 22753018 2012
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.440 Biomarker disease CTD_human Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. 20691407 2010
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.440 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 AlteredExpression group BEFREE We propose a core pathway of transcription regulators, including Hdac4, involved in chromatin condensation and transcriptional repression, and one of its targets, the transcription factor Twist1, as potential drivers of the ID and infantile spasms in patients with ARX polyalanine expansion mutations. 27798109 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation group BEFREE Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals. 24715439 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 GeneticVariation group BEFREE Mutation or deletion of HDAC4 causes brachydactyly mental retardation syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly type E. We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype. 22753018 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.430 Biomarker group CTD_human Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. 20691407 2010