MCID: TBC002
MIFTS: 12

Tbc1d24-Related Disorders

Categories: Rare diseases

Aliases & Classifications for Tbc1d24-Related Disorders

MalaCards integrated aliases for Tbc1d24-Related Disorders:

Name: Tbc1d24-Related Disorders 24 53

Classifications:



Summaries for Tbc1d24-Related Disorders

MalaCards based summary : Tbc1d24-Related Disorders is related to deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome and branchiootic syndrome 1. An important gene associated with Tbc1d24-Related Disorders is TBC1D24 (TBC1 Domain Family Member 24). Affiliated tissues include cortex.

GeneReviews: NBK274566

Related Diseases for Tbc1d24-Related Disorders

Graphical network of the top 20 diseases related to Tbc1d24-Related Disorders:



Diseases related to Tbc1d24-Related Disorders

Symptoms & Phenotypes for Tbc1d24-Related Disorders

Drugs & Therapeutics for Tbc1d24-Related Disorders

Search Clinical Trials , NIH Clinical Center for Tbc1d24-Related Disorders

Genetic Tests for Tbc1d24-Related Disorders

Anatomical Context for Tbc1d24-Related Disorders

MalaCards organs/tissues related to Tbc1d24-Related Disorders:

41
Cortex

Publications for Tbc1d24-Related Disorders

Articles related to Tbc1d24-Related Disorders:

(show all 39)
# Title Authors PMID Year
1
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. 38 4
27541164 2016
2
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability. 4
28663785 2017
3
Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function. 4
27669036 2016
4
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 4
27652284 2016
5
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features. 4
27281533 2016
6
Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations. 4
25557349 2015
7
Recessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss Pedigrees. 4
26371875 2015
8
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. 4
25401298 2015
9
TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss. 4
24729539 2014
10
A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment. 4
24729547 2014
11
TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway. 4
24469796 2014
12
The genetic basis of DOORS syndrome: an exome-sequencing study. 4
24291220 2014
13
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. 4
24387994 2014
14
TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation. 4
23517570 2013
15
Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. 4
23526554 2013
16
TBC1D24 truncating mutation resulting in severe neurodegeneration. 4
23343562 2013
17
Metabolic causes of epileptic encephalopathy. 4
23762547 2013
18
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. 4
22719002 2012
19
Rare copy number variants are an important cause of epileptic encephalopathies. 4
22190369 2011
20
DOOR syndrome. 4
21743113 2011
21
Loss of skywalker reveals synaptic endosomes as sorting stations for synaptic vesicle proteins. 4
21458671 2011
22
Early-onset progressive myoclonic epilepsy with dystonia mapping to 16pter-p13.3. 4
21087195 2010
23
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. 4
20727515 2010
24
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. 4
20797691 2010
25
Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 4
20196795 2010
26
DOOR syndrome concomitant with non-convulsive status epilepticus and hyperintense cerebellar cortex on T2-weighted imaging. 4
18440741 2009
27
DOOR syndrome: clinical report, literature review and discussion of natural history. 4
17994565 2007
28
Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome. 4
17343268 2007
29
Systematic analysis of genes required for synapse structure and function. 4
16049479 2005
30
Familial infantile myoclonic epilepsy: clinical features in a large kindred with autosomal recessive inheritance. 4
11879364 2001
31
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. 4
11422340 2001
32
Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13. 4
10741954 2000
33
Digito-reno-cerebral syndrome: confirmation of Eronen syndrome. 4
1424243 1992
34
DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients. 4
3812564 1987
35
New syndrome: a digito-reno-cerebral syndrome. 4
4050858 1985
36
Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome. 4
6707793 1984
37
Congenital sensori-neural deafness associated with onycho-osteo dystrophy and mental retardation (D.O.O.R. syndrome). 4
1132883 1975
38
A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy. 38
30680869 2019
39
TBC1D24-Related Disorders 38
25719194 2015

Variations for Tbc1d24-Related Disorders

Expression for Tbc1d24-Related Disorders

Search GEO for disease gene expression data for Tbc1d24-Related Disorders.

Pathways for Tbc1d24-Related Disorders

GO Terms for Tbc1d24-Related Disorders

Sources for Tbc1d24-Related Disorders

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