TBC1D24, TBC1 domain family member 24, 57465

N. diseases: 218; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016399
Disease: Epilepsy, Partial, Motor
Epilepsy, Partial, Motor 		0.010 GeneticVariation disease BEFREE Our data thus show that mutations in the TLDc domain of TBC1D24 cause Rolandic-type focal motor epilepsy and exercise-induced dystonia. 31257402 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.010 GeneticVariation group BEFREE Mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) gene are associated with a range of inherited neurological disorders, from drug-refractory lethal epileptic encephalopathy and DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, seizures) to non-syndromic hearing loss. 30335140 2019
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		0.010 GeneticVariation group BEFREE Our data thus show that mutations in the TLDc domain of TBC1D24 cause Rolandic-type focal motor epilepsy and exercise-induced dystonia. 31257402 2019
CUI: C0751494
Disease: Convulsive Seizures
Convulsive Seizures 		0.010 GeneticVariation phenotype BEFREE The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy. 30602030 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 Biomarker group BEFREE TBC1D24-related disorders are rare neurodevelopmental disorders that show a broad range of neuropsychiatric deficits and are mostly inherited in an autosomal recessive manner. 30680869 2019
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.010 GeneticVariation disease BEFREE Using CRISPR-Cas9 genome editing, we engineered a mouse with a premature translation stop codon equivalent to human S324Tfs*3, a recessive mutation of TBC1D24 associated with early infantile epileptic encephalopathy (EIEE). 30602030 2019
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 GeneticVariation phenotype BEFREE These two mutations resulted in the severe phenotypes observed in our patient <b>Conclusions:</b> The identification of the novel TBC1D24 mutation and consequent complicated clinical manifestations suggest that patients with NCSE and ataxia demand more attention. 30108545 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE The malignant behavior, including proliferation, migration, and invasion ability, was determined after silencing TBC1D24 in breast cancer MCF-7 cells. 29893377 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 AlteredExpression group BEFREE However, there are no reports about the expression and function of TBC1D24 in cancer. 29893377 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 GeneticVariation phenotype BEFREE These two mutations resulted in the severe phenotypes observed in our patient <b>Conclusions:</b> The identification of the novel TBC1D24 mutation and consequent complicated clinical manifestations suggest that patients with NCSE and ataxia demand more attention. 30108545 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE The effect of TBC1D24 on MCF-7 cells growth in vivo was evaluated by a tumor xenograft study. 29893377 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 AlteredExpression disease BEFREE RESULTS TBC1D24 expression was elevated and was associated with poor outcome in breast carcinoma. 29893377 2018
CUI: C0751523
Disease: Non-Convulsive Status Epilepticus
Non-Convulsive Status Epilepticus 		0.010 GeneticVariation disease BEFREE These two mutations resulted in the severe phenotypes observed in our patient <b>Conclusions:</b> The identification of the novel TBC1D24 mutation and consequent complicated clinical manifestations suggest that patients with NCSE and ataxia demand more attention. 30108545 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE The aim of the present study was to evaluate the effect of proliferation, migration, and invasion after silencing TBC1D24 expression in breast cancer MCF-7 cells, and to elucidate the potential mechanism of TBC1D24 in breast cancer. 29893377 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 AlteredExpression group BEFREE However, there are no reports about the expression and function of TBC1D24 in cancer. 29893377 2018
CUI: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua 		0.010 GeneticVariation disease BEFREE Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 28292732 2017
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		0.010 GeneticVariation disease BEFREE The three examples of clinical and genetic complexities are drawn from studies of (i) Pendred syndrome/DFNB4 (PDS, OMIM 274600), (ii) Perrault syndrome (deafness and infertility) due to mutations of CLPP (PRTLS3, OMIM 614129), and (iii) the unexplained extensive clinical variability associated with TBC1D24 mutations. 27259978 2017
CUI: C0278110
Disease: Hemiplegia, Crossed
Hemiplegia, Crossed 		0.010 GeneticVariation disease BEFREE This study describes for the first time the association between TBC1D24 variants and AH expanding the phenotypic spectrum of TBC1D24-related diseases and suggesting that TBC1D24 molecular analysis should be considered in the diagnostic work up of AH patients. 28292732 2017
CUI: C0338488
Disease: Alternating hemiplegia of childhood
Alternating hemiplegia of childhood 		0.010 GeneticVariation disease BEFREE This study describes for the first time the association between TBC1D24 variants and AH expanding the phenotypic spectrum of TBC1D24-related diseases and suggesting that TBC1D24 molecular analysis should be considered in the diagnostic work up of AH patients. 28292732 2017
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		0.010 GeneticVariation disease BEFREE The three examples of clinical and genetic complexities are drawn from studies of (i) Pendred syndrome/DFNB4 (PDS, OMIM 274600), (ii) Perrault syndrome (deafness and infertility) due to mutations of CLPP (PRTLS3, OMIM 614129), and (iii) the unexplained extensive clinical variability associated with TBC1D24 mutations. 27259978 2017
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation phenotype BEFREE TBC1D24-related epilepsy syndromes show marked phenotypic pleiotropy, with multisystem involvement and severity spectrum ranging from isolated deafness (not studied here), benign myoclonic epilepsy restricted to childhood with complete seizure control and normal intellect, to early-onset epileptic encephalopathy with severe developmental delay and early death. 27281533 2016
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		0.010 Biomarker disease BEFREE TBC1D24 is a newly recognized gene in which variations lead to variable clinical phenotypes including drug-resistant epilepsy. 27502353 2016
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.010 GeneticVariation disease BEFREE Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 25769375 2015
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		0.010 GeneticVariation disease BEFREE Identification of mutations in PRNP, SACS and TBC1D24 expand their phenotypic spectra to PME. 25401298 2015
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		0.010 GeneticVariation disease BEFREE Other variants in TBC1D24 have been associated with a panoply of clinical symptoms including autosomal recessive NSHL, syndromic hearing impairment associated with onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS syndrome), and a wide range of epileptic disorders. 24729539 2014