MCID: BTN005
MIFTS: 20

Biotin-Thiamine-Responsive Basal Ganglia Disease

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Biotin-Thiamine-Responsive Basal Ganglia Disease

MalaCards integrated aliases for Biotin-Thiamine-Responsive Basal Ganglia Disease:

Name: Biotin-Thiamine-Responsive Basal Ganglia Disease 23 49 24
Biotin-Responsive Basal Ganglia Disease 23 49 24
Thiamine Transporter-2 Deficiency 23 24
Btbgd 23 24
Bbgd 49 24
Thiamine Metabolism Dysfunction Syndrome 2 24
Basal Ganglia Disease, Biotin-Responsive 69
Thiamine-Responsive Encephalopathy 24
Thmd2 24

Classifications:



External Ids:

UMLS 69 C1843807

Summaries for Biotin-Thiamine-Responsive Basal Ganglia Disease

NIH Rare Diseases : 49 Biotin-thiamine-responsive basal ganglia disease is a rare condition that affects the brain and other parts of the nervous system. The severity of the condition and the associated signs and symptoms vary from person to person, even within the same family. Without early diagnosis and treatment, most affected people develop features of the condition between ages 3 and 10 years. Signs and symptoms may include recurrent episodes of confusion, seizures, ataxia (problems coordinating movements), dystonia, facial palsy (weakness of the facial muscles), external ophthalmoplegia (paralysis of the muscles surrounding the eye), and dysphagia. Eventually, these episodes can lead to coma or even death. Biotin-thiamine-responsive basal ganglia disease is caused by changes (mutations) in the SLC19A3 gene and is inherited in an autosomal recessive manner. As its name suggests, early and lifelong treatment with the vitamins biotin and thiamine may improve the symptoms. Last updated: 1/15/2016

MalaCards based summary : Biotin-Thiamine-Responsive Basal Ganglia Disease, also known as biotin-responsive basal ganglia disease, is related to thiamine metabolism dysfunction syndrome 2 and basal ganglia disease, and has symptoms including gait ataxia, abnormal pyramidal signs and paraparesis. An important gene associated with Biotin-Thiamine-Responsive Basal Ganglia Disease is SLC19A3 (Solute Carrier Family 19 Member 3). Affiliated tissues include brain and eye.

Genetics Home Reference : 24 Biotin-thiamine-responsive basal ganglia disease is a disorder that affects the nervous system, including a group of structures in the brain called the basal ganglia, which help control movement. As its name suggests, the condition may improve if the vitamins biotin and thiamine are given as treatment. Without early and lifelong vitamin treatment, people with biotin-thiamine-responsive basal ganglia disease experience a variety of neurological problems that gradually get worse. The occurrence of specific neurological problems and their severity vary even among affected individuals within the same family.

GeneReviews: NBK169615

Related Diseases for Biotin-Thiamine-Responsive Basal Ganglia Disease

Diseases related to Biotin-Thiamine-Responsive Basal Ganglia Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 thiamine metabolism dysfunction syndrome 2 11.9
2 basal ganglia disease 10.7
3 leigh syndrome 10.0
4 lactic acidosis 10.0

Symptoms & Phenotypes for Biotin-Thiamine-Responsive Basal Ganglia Disease

UMLS symptoms related to Biotin-Thiamine-Responsive Basal Ganglia Disease:


gait ataxia, abnormal pyramidal signs, paraparesis, seizures, muscle rigidity

Drugs & Therapeutics for Biotin-Thiamine-Responsive Basal Ganglia Disease

Search Clinical Trials , NIH Clinical Center for Biotin-Thiamine-Responsive Basal Ganglia Disease

Genetic Tests for Biotin-Thiamine-Responsive Basal Ganglia Disease

Anatomical Context for Biotin-Thiamine-Responsive Basal Ganglia Disease

MalaCards organs/tissues related to Biotin-Thiamine-Responsive Basal Ganglia Disease:

38
Brain, Eye

Publications for Biotin-Thiamine-Responsive Basal Ganglia Disease

Articles related to Biotin-Thiamine-Responsive Basal Ganglia Disease:

(show all 12)
# Title Authors Year
1
Biotin Thiamin Responsive Basal Ganglia Disease in Siblings. ( 29101630 )
2018
2
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. ( 28696212 )
2017
3
Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease. ( 28944253 )
2017
4
Biotin-thiamine responsive basal ganglia disease: Identification of a pyruvate peak on brain spectroscopy, novel mutation in SLC19A3, and calculation of prevalence based on allele frequencies from aggregated next-generation sequencing data. ( 28402605 )
2017
5
Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment. ( 27905264 )
2017
6
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease. ( 28677371 )
2017
7
A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended? ( 27749535 )
2016
8
Biotin thiamine responsive basal ganglia disease-A potentially treatable inborn error of metabolism. ( 27841215 )
2016
9
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. ( 27896110 )
2014
10
Stress Induced Up-Regulation of Slc19a3 is Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease. ( 24372704 )
2013
11
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. ( 23742248 )
2013
12
Biotin-Thiamine-Responsive Basal Ganglia Disease ( 24260777 )
1993

Variations for Biotin-Thiamine-Responsive Basal Ganglia Disease

ClinVar genetic disease variations for Biotin-Thiamine-Responsive Basal Ganglia Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC19A3 NM_025243.3(SLC19A3): c.20C> A (p.Ser7Ter) single nucleotide variant Pathogenic rs713993048 GRCh37 Chromosome 2, 228567015: 228567015
2 SLC19A3 NM_025243.3(SLC19A3): c.74dupT (p.Ser26Leufs) duplication Pathogenic rs786205213 GRCh38 Chromosome 2, 227702245: 227702245
3 SLC19A3 NM_025243.3(SLC19A3): c.68G> T (p.Gly23Val) single nucleotide variant Pathogenic rs121917882 GRCh37 Chromosome 2, 228566967: 228566967
4 SLC19A3 NM_025243.3(SLC19A3): c.1264A> G (p.Thr422Ala) single nucleotide variant Pathogenic rs121917884 GRCh37 Chromosome 2, 228552932: 228552932
5 SLC19A3 SLC19A3, IVS3AS, A-G, -14 single nucleotide variant Pathogenic
6 SLC19A3 NM_025243.3(SLC19A3): c.130A> G (p.Lys44Glu) single nucleotide variant Pathogenic rs137852957 GRCh37 Chromosome 2, 228566905: 228566905
7 SLC19A3 NM_025243.3(SLC19A3): c.958G> C (p.Glu320Gln) single nucleotide variant Pathogenic rs137852958 GRCh37 Chromosome 2, 228563473: 228563473
8 SLC19A3 SLC19A3, 1-BP DUP, 74T duplication Pathogenic
9 SLC19A3 NM_025243.3(SLC19A3): c.81_82dupGA (p.Met28Argfs) duplication Pathogenic rs775835429 GRCh38 Chromosome 2, 227702237: 227702238
10 SLC19A3 NM_025243.3(SLC19A3): c.-4404_-3+408del deletion Pathogenic GRCh38 Chromosome 2, 227717535: 227722344

Expression for Biotin-Thiamine-Responsive Basal Ganglia Disease

Search GEO for disease gene expression data for Biotin-Thiamine-Responsive Basal Ganglia Disease.

Pathways for Biotin-Thiamine-Responsive Basal Ganglia Disease

GO Terms for Biotin-Thiamine-Responsive Basal Ganglia Disease

Sources for Biotin-Thiamine-Responsive Basal Ganglia Disease

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