MCID: BTN005
MIFTS: 24

Biotin-Thiamine-Responsive Basal Ganglia Disease

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare 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 25 54 26 30 6
Biotin-Responsive Basal Ganglia Disease 25 54 26
Thiamine Transporter-2 Deficiency 25 26 30
Btbgd 25 26
Bbgd 54 26
Thiamine Metabolism Dysfunction Syndrome 2 26
Basal Ganglia Disease, Biotin-Responsive 74
Thiamine-Responsive Encephalopathy 26
Thmd2 26

Classifications:



External Ids:

UMLS 74 C1843807

Summaries for Biotin-Thiamine-Responsive Basal Ganglia Disease

NIH Rare Diseases : 54 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.

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 seizures, gait ataxia 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 : 26 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 12.1
2 basal ganglia disease 10.9
3 leigh syndrome 10.2
4 depression 10.2
5 lactic acidosis 10.1
6 encephalopathy 10.0

Graphical network of the top 20 diseases related to Biotin-Thiamine-Responsive Basal Ganglia Disease:



Diseases related to Biotin-Thiamine-Responsive Basal Ganglia Disease

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

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


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

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

Genetic tests related to Biotin-Thiamine-Responsive Basal Ganglia Disease:

# Genetic test Affiliating Genes
1 Biotin-Thiamine-Responsive Basal Ganglia Disease 30 SLC19A3
2 Thiamine Transporter-2 Deficiency 30

Anatomical Context for Biotin-Thiamine-Responsive Basal Ganglia Disease

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

42
Brain, Eye

Publications for Biotin-Thiamine-Responsive Basal Ganglia Disease

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

(show all 31)
# Title Authors Year
1
Biotin-Thiamine-Responsive Basal Ganglia Disease: Case Report and Follow-Up of a Patient With Poor Compliance. ( 29770345 )
2018
2
Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease? ( 30054086 )
2018
3
Biotin-Thiamine-Responsive Basal Ganglia Disease-A Treatable Metabolic Disorder. ( 30119991 )
2018
4
Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment. ( 27905264 )
2017
5
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
6
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease. ( 28677371 )
2017
7
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. ( 28696212 )
2017
8
Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease. ( 28944253 )
2017
9
Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia. ( 29236641 )
2017
10
Teaching NeuroImages: MRI findings of biotin-responsive basal ganglia disease before and after treatment. ( 26880816 )
2016
11
Teaching NeuroImages: Biotin-responsive basal ganglia disease. ( 27164647 )
2016
12
Depression in adult patients with biotin responsive basal ganglia disease. ( 27534451 )
2016
13
A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended? ( 27749535 )
2016
14
Biotin thiamine responsive basal ganglia disease-A potentially treatable inborn error of metabolism. ( 27841215 )
2016
15
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing. ( 25876998 )
2015
16
Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone. ( 26095097 )
2015
17
Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome. ( 24166474 )
2014
18
Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease. ( 24372704 )
2014
19
Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment. ( 24812013 )
2014
20
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. ( 27896110 )
2014
21
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. ( 23269594 )
2013
22
Bilateral external ophthalmoplegia in biotin-responsive basal ganglia disease. ( 23360564 )
2013
23
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
24
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. ( 23423671 )
2013
25
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. ( 20065143 )
2010
26
Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood. ( 19491117 )
2009
27
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy. ( 19387023 )
2009
28
Biotin-responsive basal ganglia disease: case report and review of the literature. ( 19294600 )
2008
29
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. ( 16790503 )
2006
30
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. ( 15871139 )
2005
31
Biotin-responsive basal ganglia disease: a novel entity. ( 9679779 )
1998

Variations for Biotin-Thiamine-Responsive Basal Ganglia Disease

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

6 (show top 50) (show all 133)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC19A3 NM_025243.3(SLC19A3): c.68G> T (p.Gly23Val) single nucleotide variant Pathogenic rs121917882 GRCh37 Chromosome 2, 228566967: 228566967
2 SLC19A3 NM_025243.3(SLC19A3): c.68G> T (p.Gly23Val) single nucleotide variant Pathogenic rs121917882 GRCh38 Chromosome 2, 227702251: 227702251
3 SLC19A3 NM_025243.3(SLC19A3): c.1264A> G (p.Thr422Ala) single nucleotide variant Pathogenic rs121917884 GRCh37 Chromosome 2, 228552932: 228552932
4 SLC19A3 NM_025243.3(SLC19A3): c.1264A> G (p.Thr422Ala) single nucleotide variant Pathogenic rs121917884 GRCh38 Chromosome 2, 227688216: 227688216
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.130A> G (p.Lys44Glu) single nucleotide variant Pathogenic rs137852957 GRCh38 Chromosome 2, 227702189: 227702189
8 SLC19A3 NM_025243.3(SLC19A3): c.958G> C (p.Glu320Gln) single nucleotide variant Pathogenic rs137852958 GRCh37 Chromosome 2, 228563473: 228563473
9 SLC19A3 NM_025243.3(SLC19A3): c.958G> C (p.Glu320Gln) single nucleotide variant Pathogenic rs137852958 GRCh38 Chromosome 2, 227698757: 227698757
10 SLC19A3 SLC19A3, 1-BP DUP, 74T duplication Pathogenic
11 SLC19A3 NM_025243.3(SLC19A3): c.1049T> C (p.Val350Ala) single nucleotide variant Benign rs34507036 GRCh37 Chromosome 2, 228560728: 228560728
12 SLC19A3 NM_025243.3(SLC19A3): c.1049T> C (p.Val350Ala) single nucleotide variant Benign rs34507036 GRCh38 Chromosome 2, 227696012: 227696012
13 SLC19A3 NM_025243.3(SLC19A3): c.309G> A (p.Val103=) single nucleotide variant Benign/Likely benign rs142837989 GRCh37 Chromosome 2, 228564122: 228564122
14 SLC19A3 NM_025243.3(SLC19A3): c.309G> A (p.Val103=) single nucleotide variant Benign/Likely benign rs142837989 GRCh38 Chromosome 2, 227699406: 227699406
15 SLC19A3 NM_025243.3(SLC19A3): c.42C> T (p.Tyr14=) single nucleotide variant Benign/Likely benign rs34080459 GRCh37 Chromosome 2, 228566993: 228566993
16 SLC19A3 NM_025243.3(SLC19A3): c.42C> T (p.Tyr14=) single nucleotide variant Benign/Likely benign rs34080459 GRCh38 Chromosome 2, 227702277: 227702277
17 SLC19A3 NM_025243.3(SLC19A3): c.435C> T (p.Ser145=) single nucleotide variant Benign/Likely benign rs76517176 GRCh37 Chromosome 2, 228563996: 228563996
18 SLC19A3 NM_025243.3(SLC19A3): c.435C> T (p.Ser145=) single nucleotide variant Benign/Likely benign rs76517176 GRCh38 Chromosome 2, 227699280: 227699280
19 SLC19A3 NM_025243.3(SLC19A3): c.520G> A (p.Val174Ile) single nucleotide variant Benign/Likely benign rs59736804 GRCh37 Chromosome 2, 228563911: 228563911
20 SLC19A3 NM_025243.3(SLC19A3): c.520G> A (p.Val174Ile) single nucleotide variant Benign/Likely benign rs59736804 GRCh38 Chromosome 2, 227699195: 227699195
21 SLC19A3 NM_025243.3(SLC19A3): c.549T> C (p.Ala183=) single nucleotide variant Benign/Likely benign rs74693100 GRCh37 Chromosome 2, 228563882: 228563882
22 SLC19A3 NM_025243.3(SLC19A3): c.549T> C (p.Ala183=) single nucleotide variant Benign/Likely benign rs74693100 GRCh38 Chromosome 2, 227699166: 227699166
23 SLC19A3 NM_025243.3(SLC19A3): c.421G> A (p.Gly141Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148144444 GRCh37 Chromosome 2, 228564010: 228564010
24 SLC19A3 NM_025243.3(SLC19A3): c.421G> A (p.Gly141Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs148144444 GRCh38 Chromosome 2, 227699294: 227699294
25 SLC19A3 NM_025243.3(SLC19A3): c.756G> A (p.Leu252=) single nucleotide variant Benign rs12185721 GRCh37 Chromosome 2, 228563675: 228563675
26 SLC19A3 NM_025243.3(SLC19A3): c.756G> A (p.Leu252=) single nucleotide variant Benign rs12185721 GRCh38 Chromosome 2, 227698959: 227698959
27 SLC19A3 NM_025243.3(SLC19A3): c.20C> A (p.Ser7Ter) single nucleotide variant Pathogenic rs713993048 GRCh37 Chromosome 2, 228567015: 228567015
28 SLC19A3 NM_025243.3(SLC19A3): c.20C> A (p.Ser7Ter) single nucleotide variant Pathogenic rs713993048 GRCh38 Chromosome 2, 227702299: 227702299
29 SLC19A3 NM_025243.3(SLC19A3): c.74dupT (p.Ser26Leufs) duplication Pathogenic rs786205213 GRCh38 Chromosome 2, 227702245: 227702245
30 SLC19A3 NM_025243.3(SLC19A3): c.74dupT (p.Ser26Leufs) duplication Pathogenic rs786205213 GRCh37 Chromosome 2, 228566961: 228566961
31 SLC19A3 NM_025243.3(SLC19A3): c.546G> A (p.Val182=) single nucleotide variant Benign/Likely benign rs143188189 GRCh37 Chromosome 2, 228563885: 228563885
32 SLC19A3 NM_025243.3(SLC19A3): c.546G> A (p.Val182=) single nucleotide variant Benign/Likely benign rs143188189 GRCh38 Chromosome 2, 227699169: 227699169
33 SLC19A3 NM_025243.3(SLC19A3): c.1379_1381dupTTA (p.Ile460_Thr461insIle) duplication Uncertain significance rs756676536 GRCh37 Chromosome 2, 228552223: 228552225
34 SLC19A3 NM_025243.3(SLC19A3): c.1379_1381dupTTA (p.Ile460_Thr461insIle) duplication Uncertain significance rs756676536 GRCh38 Chromosome 2, 227687507: 227687509
35 SLC19A3 NM_025243.3(SLC19A3): c.1112C> T (p.Ala371Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142166552 GRCh37 Chromosome 2, 228560665: 228560665
36 SLC19A3 NM_025243.3(SLC19A3): c.1112C> T (p.Ala371Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142166552 GRCh38 Chromosome 2, 227695949: 227695949
37 SLC19A3 NM_025243.3(SLC19A3): c.621A> G (p.Ile207Met) single nucleotide variant Conflicting interpretations of pathogenicity rs145804755 GRCh37 Chromosome 2, 228563810: 228563810
38 SLC19A3 NM_025243.3(SLC19A3): c.621A> G (p.Ile207Met) single nucleotide variant Conflicting interpretations of pathogenicity rs145804755 GRCh38 Chromosome 2, 227699094: 227699094
39 SLC19A3 NM_025243.3(SLC19A3): c.557T> C (p.Phe186Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs116533505 GRCh37 Chromosome 2, 228563874: 228563874
40 SLC19A3 NM_025243.3(SLC19A3): c.557T> C (p.Phe186Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs116533505 GRCh38 Chromosome 2, 227699158: 227699158
41 SLC19A3 NM_025243.3(SLC19A3): c.801A> G (p.Gln267=) single nucleotide variant Conflicting interpretations of pathogenicity rs147205930 GRCh37 Chromosome 2, 228563630: 228563630
42 SLC19A3 NM_025243.3(SLC19A3): c.801A> G (p.Gln267=) single nucleotide variant Conflicting interpretations of pathogenicity rs147205930 GRCh38 Chromosome 2, 227698914: 227698914
43 SLC19A3 NM_025243.3(SLC19A3): c.1145G> A (p.Ser382Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145288025 GRCh37 Chromosome 2, 228560632: 228560632
44 SLC19A3 NM_025243.3(SLC19A3): c.1145G> A (p.Ser382Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145288025 GRCh38 Chromosome 2, 227695916: 227695916
45 SLC19A3 NM_025243.3(SLC19A3): c.399C> G (p.Pro133=) single nucleotide variant Conflicting interpretations of pathogenicity rs138363524 GRCh37 Chromosome 2, 228564032: 228564032
46 SLC19A3 NM_025243.3(SLC19A3): c.399C> G (p.Pro133=) single nucleotide variant Conflicting interpretations of pathogenicity rs138363524 GRCh38 Chromosome 2, 227699316: 227699316
47 SLC19A3 NM_025243.3(SLC19A3): c.99A> G (p.Pro33=) single nucleotide variant Conflicting interpretations of pathogenicity rs17853011 GRCh38 Chromosome 2, 227702220: 227702220
48 SLC19A3 NM_025243.3(SLC19A3): c.99A> G (p.Pro33=) single nucleotide variant Conflicting interpretations of pathogenicity rs17853011 GRCh37 Chromosome 2, 228566936: 228566936
49 SLC19A3 NM_025243.3(SLC19A3): c.977G> T (p.Gly326Val) single nucleotide variant Uncertain significance rs747823282 GRCh38 Chromosome 2, 227698738: 227698738
50 SLC19A3 NM_025243.3(SLC19A3): c.977G> T (p.Gly326Val) single nucleotide variant Uncertain significance rs747823282 GRCh37 Chromosome 2, 228563454: 228563454

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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