BBGD
MCID: BTN005
MIFTS: 26

Biotin-Thiamine-Responsive Basal Ganglia Disease (BBGD)

Categories: 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 20 43 6
Biotin-Responsive Basal Ganglia Disease 25 20 43
Thiamine Transporter-2 Deficiency 25 43 29
Bbgd 25 20 43
Btbgd 25 43
Thiamine Metabolism Dysfunction Syndrome 2 43
Thiamine Metabolism Dysfunction Syndrome-2 25
Basal Ganglia Disease, Biotin-Responsive 70
Thiamine-Responsive Encephalopathy 43
Thmd2 43

Classifications:



External Ids:

UMLS 70 C1843807

Summaries for Biotin-Thiamine-Responsive Basal Ganglia Disease

MedlinePlus Genetics : 43 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.The signs and symptoms of biotin-thiamine-responsive basal ganglia disease usually begin between the ages of 3 and 10, but the disorder can appear at any age. Many of the neurological problems that can occur in biotin-thiamine-responsive basal ganglia disease affect movement, and can include involuntary tensing of various muscles (dystonia), muscle rigidity, muscle weakness on one or both sides of the body (hemiparesis or quadriparesis), problems coordinating movements (ataxia), and exaggerated reflexes (hyperreflexia). Movement problems can also affect the face, and may include the inability to move facial muscles due to facial nerve paralysis (supranuclear facial palsy), paralysis of the eye muscles (external ophthalmoplegia), difficulty chewing or swallowing (dysphagia), and slurred speech. Affected individuals may also experience confusion, loss of previously learned skills, intellectual disability, and seizures. Severe cases may result in coma and become life-threatening.Typically, the neurological symptoms occur as increasingly severe episodes, which may be triggered by fever, injury, or other stresses on the body. Less commonly, the signs and symptoms persist at the same level or slowly increase in severity over time rather than occurring as episodes that come and go. In these individuals, the neurological problems are usually limited to dystonia, seizure disorders, and delay in the development of mental and motor skills (psychomotor delay).

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 eye.

GARD : 20 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.

GeneReviews: NBK169615

Related Diseases for Biotin-Thiamine-Responsive Basal Ganglia Disease

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 Thiamine Transporter-2 Deficiency 29

Anatomical Context for Biotin-Thiamine-Responsive Basal Ganglia Disease

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

40
Eye

Publications for Biotin-Thiamine-Responsive Basal Ganglia Disease

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

(show top 50) (show all 52)
# Title Authors PMID Year
1
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy. 61 25 6
26863430 2016
2
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. 61 6 25
23742248 2013
3
Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. 25 6 61
23589815 2013
4
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. 6 25
20065143 2010
5
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy. 25 6
19387023 2009
6
Biotin Thiamin Responsive Basal Ganglia Disease in Siblings. 61 6
29101630 2018
7
A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended? 6 61
27749535 2016
8
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome. 61 6
26657515 2016
9
Thiamine transporter-2 deficiency: outcome and treatment monitoring. 6 61
24957181 2014
10
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. 61 6
27896110 2014
11
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. 61 6
22777947 2012
12
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening. 25 61
31557427 2019
13
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. 6
29453417 2018
14
Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia. 6
29236641 2017
15
A clinically driven variant prioritization framework outperforms purely computational approaches for the diagnostic analysis of singleton WES data. 6
28832562 2017
16
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
17
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 6
27290639 2016
18
Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome. 6
24166474 2014
19
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. 6
23482991 2013
20
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. 6
23423671 2013
21
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. 6
16790503 2006
22
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. 6
15871139 2005
23
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6. 25
31754459 2019
24
Organic acid disorders. 25
30740403 2018
25
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
26
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
27
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. 25
23269594 2013
28
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. 25
21176162 2010
29
Systematic identification of human mitochondrial disease genes through integrative genomics. 25
16582907 2006
30
Biotin-responsive basal ganglia disease: a novel entity. 25
9679779 1998
31
Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease. 61
32600842 2020
32
Vitamin-Responsive Movement Disorders in Children. 61
32606520 2020
33
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes. 61
32020600 2020
34
[Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease]. 61
32034746 2020
35
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature. 61
31061755 2019
36
[Paroxysmal crying and motor regression for more than two months in an infant]. 61
31014436 2019
37
Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis. 61
31951338 2019
38
Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease? 61
30054086 2018
39
Biotin-Thiamine-Responsive Basal Ganglia Disease-A Treatable Metabolic Disorder. 61
30119991 2018
40
[Biotin-thiamine-responsive basal ganglia disease]. 61
29886612 2018
41
SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review. 61
28962040 2018
42
Biotin-Thiamine-Responsive Basal Ganglia Disease: Case Report and Follow-Up of a Patient With Poor Compliance. 61
29770345 2018
43
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. 61
28696212 2017
44
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. 61
28402605 2017
45
Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment. 61
27905264 2017
46
Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease. 61
28944253 2017
47
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease. 61
28677371 2017
48
Biotin thiamine responsive basal ganglia disease-A potentially treatable inborn error of metabolism. 61
27841215 2016
49
Wernicke encephalopathy in children and adolescents. 61
25515801 2014
50
Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease. 61
24372704 2014

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 259)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC19A3 NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) SNV Pathogenic 4562 rs121917882 GRCh37: 2:228566967-228566967
GRCh38: 2:227702251-227702251
2 SLC19A3 NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala) SNV Pathogenic 4563 rs121917884 GRCh37: 2:228552932-228552932
GRCh38: 2:227688216-227688216
3 SLC19A3 SLC19A3, IVS3AS, A-G, -14 SNV Pathogenic 4564 GRCh37:
GRCh38:
4 SLC19A3 NM_025243.4(SLC19A3):c.130A>G (p.Lys44Glu) SNV Pathogenic 4565 rs137852957 GRCh37: 2:228566905-228566905
GRCh38: 2:227702189-227702189
5 SLC19A3 NM_025243.4(SLC19A3):c.958G>C (p.Glu320Gln) SNV Pathogenic 4566 rs137852958 GRCh37: 2:228563473-228563473
GRCh38: 2:227698757-227698757
6 SLC19A3 SLC19A3, 1-BP DUP, 74T Duplication Pathogenic 4567 GRCh37:
GRCh38:
7 SLC19A3 NM_025243.4(SLC19A3):c.20C>A (p.Ser7Ter) SNV Pathogenic 162137 rs713993048 GRCh37: 2:228567015-228567015
GRCh38: 2:227702299-227702299
8 SLC19A3 NM_025243.4(SLC19A3):c.74dup (p.Ser26fs) Duplication Pathogenic 190224 rs786205213 GRCh37: 2:228566960-228566961
GRCh38: 2:227702244-227702245
9 SLC19A3 NM_025243.4(SLC19A3):c.1154T>G (p.Leu385Arg) SNV Pathogenic 215161 rs563607795 GRCh37: 2:228560623-228560623
GRCh38: 2:227695907-227695907
10 SLC19A3 NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs) Duplication Pathogenic 369672 rs775835429 GRCh37: 2:228566952-228566953
GRCh38: 2:227702236-227702237
11 SLC19A3 NM_025243.3(SLC19A3):c.-4404_-3+408del Deletion Pathogenic 425554 GRCh37: 2:228582251-228587060
GRCh38: 2:227717535-227722344
12 SLC19A3 NM_025243.4(SLC19A3):c.541T>C (p.Ser181Pro) SNV Pathogenic 488596 rs773971505 GRCh37: 2:228563890-228563890
GRCh38: 2:227699174-227699174
13 SLC19A3 NM_025243.4(SLC19A3):c.1274_1276TAG[1] (p.Val426del) Microsatellite Pathogenic 438725 rs1553568249 GRCh37: 2:228552917-228552919
GRCh38: 2:227688201-227688203
14 SLC19A3 NM_025243.4(SLC19A3):c.265A>C (p.Ser89Arg) SNV Pathogenic 438726 rs759807393 GRCh37: 2:228564166-228564166
GRCh38: 2:227699450-227699450
15 SLC19A3 NM_025243.4(SLC19A3):c.197T>C (p.Leu66Pro) SNV Pathogenic 438727 rs1553571813 GRCh37: 2:228564234-228564234
GRCh38: 2:227699518-227699518
16 SLC19A3 NM_025243.4(SLC19A3):c.962C>T (p.Ala321Val) SNV Pathogenic 438728 rs1282844765 GRCh37: 2:228563469-228563469
GRCh38: 2:227698753-227698753
17 SLC19A3 NM_025243.4(SLC19A3):c.850T>C (p.Trp284Arg) SNV Pathogenic 438729 rs1553571227 GRCh37: 2:228563581-228563581
GRCh38: 2:227698865-227698865
18 SLC19A3 NM_025243.4(SLC19A3):c.597dup (p.His200fs) Duplication Pathogenic 533549 rs773140674 GRCh37: 2:228563833-228563834
GRCh38: 2:227699117-227699118
19 SLC19A3 NM_025243.4(SLC19A3):c.980-14A>G SNV Pathogenic 446038 rs200542114 GRCh37: 2:228560811-228560811
GRCh38: 2:227696095-227696095
20 SLC19A3 NM_025243.4(SLC19A3):c.1079dup (p.Leu360fs) Duplication Pathogenic 579605 rs1559247315 GRCh37: 2:228560697-228560698
GRCh38: 2:227695981-227695982
21 SLC19A3 NC_000002.12:g.(?_227687377)_(227702338_?)del Deletion Pathogenic 830446 GRCh37: 2:228552093-228567054
GRCh38:
22 SLC19A3 NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter) SNV Pathogenic 848983 GRCh37: 2:228563577-228563577
GRCh38: 2:227698861-227698861
23 overlap with 2 genes NC_000002.12:g.(?_227616600)_(227744395_?)del Deletion Pathogenic 805846 GRCh37: 2:228481316-228609111
GRCh38:
24 SLC19A3 NM_025243.4(SLC19A3):c.384C>G (p.Tyr128Ter) SNV Pathogenic 953688 GRCh37: 2:228564047-228564047
GRCh38: 2:227699331-227699331
25 SLC19A3 NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His) SNV Pathogenic/Likely pathogenic 369673 rs145999922 GRCh37: 2:228564094-228564094
GRCh38: 2:227699378-227699378
26 SLC19A3 NM_025243.4(SLC19A3):c.111del (p.Tyr38fs) Deletion Likely pathogenic 590823 rs1559252723 GRCh37: 2:228566924-228566924
GRCh38: 2:227702208-227702208
27 SLC19A3 NM_025243.4(SLC19A3):c.150+2T>C SNV Likely pathogenic 945140 GRCh37: 2:228566883-228566883
GRCh38: 2:227702167-227702167
28 SLC19A3 NM_025243.4(SLC19A3):c.482_483del (p.Leu161fs) Deletion Likely pathogenic 973536 GRCh37: 2:228563948-228563949
GRCh38: 2:227699232-227699233
29 SLC19A3 NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) SNV Conflicting interpretations of pathogenicity 290414 rs138363524 GRCh37: 2:228564032-228564032
GRCh38: 2:227699316-227699316
30 SLC19A3 NM_025243.4(SLC19A3):c.801A>G (p.Gln267=) SNV Conflicting interpretations of pathogenicity 281501 rs147205930 GRCh37: 2:228563630-228563630
GRCh38: 2:227698914-227698914
31 SLC19A3 NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn) SNV Conflicting interpretations of pathogenicity 288883 rs145288025 GRCh37: 2:228560632-228560632
GRCh38: 2:227695916-227695916
32 SLC19A3 NM_025243.4(SLC19A3):c.1204C>T (p.Arg402Cys) SNV Conflicting interpretations of pathogenicity 771249 rs150523975 GRCh37: 2:228552992-228552992
GRCh38: 2:227688276-227688276
33 SLC19A3 NM_025243.4(SLC19A3):c.861C>T (p.Phe287=) SNV Conflicting interpretations of pathogenicity 792418 rs764867524 GRCh37: 2:228563570-228563570
GRCh38: 2:227698854-227698854
34 SLC19A3 NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) SNV Conflicting interpretations of pathogenicity 215152 rs145804755 GRCh37: 2:228563810-228563810
GRCh38: 2:227699094-227699094
35 SLC19A3 NM_025243.4(SLC19A3):c.390G>T (p.Val130=) SNV Conflicting interpretations of pathogenicity 334882 rs376187918 GRCh37: 2:228564041-228564041
GRCh38: 2:227699325-227699325
36 SLC19A3 NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly) SNV Conflicting interpretations of pathogenicity 334880 rs199558186 GRCh37: 2:228563818-228563818
GRCh38: 2:227699102-227699102
37 SLC19A3 NM_025243.4(SLC19A3):c.557T>C (p.Phe186Ser) SNV Uncertain significance 215151 rs116533505 GRCh37: 2:228563874-228563874
GRCh38: 2:227699158-227699158
38 SLC19A3 NM_025243.4(SLC19A3):c.697C>G (p.Pro233Ala) SNV Uncertain significance 464954 rs756864477 GRCh37: 2:228563734-228563734
GRCh38: 2:227699018-227699018
39 SLC19A3 NM_025243.4(SLC19A3):c.914A>G (p.Tyr305Cys) SNV Uncertain significance 464955 rs189540672 GRCh37: 2:228563517-228563517
GRCh38: 2:227698801-227698801
40 SLC19A3 NM_025243.4(SLC19A3):c.461G>A (p.Gly154Glu) SNV Uncertain significance 464953 rs202145913 GRCh37: 2:228563970-228563970
GRCh38: 2:227699254-227699254
41 SLC19A3 NM_025243.4(SLC19A3):c.*1121G>A SNV Uncertain significance 334854 rs539114374 GRCh37: 2:228550992-228550992
GRCh38: 2:227686276-227686276
42 SLC19A3 NM_025243.4(SLC19A3):c.-52T>C SNV Uncertain significance 334884 rs572061835 GRCh37: 2:228582708-228582708
GRCh38: 2:227717992-227717992
43 SLC19A3 NM_025243.4(SLC19A3):c.*2033A>G SNV Uncertain significance 334836 rs886055753 GRCh37: 2:228550080-228550080
GRCh38: 2:227685364-227685364
44 SLC19A3 NM_025243.4(SLC19A3):c.*1072A>C SNV Uncertain significance 334857 rs886055755 GRCh37: 2:228551041-228551041
GRCh38: 2:227686325-227686325
45 SLC19A3 NM_025243.4(SLC19A3):c.*176A>G SNV Uncertain significance 334874 rs886055761 GRCh37: 2:228551937-228551937
GRCh38: 2:227687221-227687221
46 SLC19A3 NM_025243.4(SLC19A3):c.*1818T>A SNV Uncertain significance 334843 rs189430957 GRCh37: 2:228550295-228550295
GRCh38: 2:227685579-227685579
47 SLC19A3 NM_025243.4(SLC19A3):c.*1059C>G SNV Uncertain significance 334858 rs886055756 GRCh37: 2:228551054-228551054
GRCh38: 2:227686338-227686338
48 SLC19A3 NM_025243.4(SLC19A3):c.*1104T>C SNV Uncertain significance 334855 rs886055754 GRCh37: 2:228551009-228551009
GRCh38: 2:227686293-227686293
49 SLC19A3 NM_025243.4(SLC19A3):c.*2139G>A SNV Uncertain significance 334829 rs554398899 GRCh37: 2:228549974-228549974
GRCh38: 2:227685258-227685258
50 SLC19A3 NM_025243.4(SLC19A3):c.*685G>A SNV Uncertain significance 334864 rs886055759 GRCh37: 2:228551428-228551428
GRCh38: 2:227686712-227686712

Expression for Biotin-Thiamine-Responsive Basal Ganglia Disease

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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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