BBGD
MCID: BTN005
MIFTS: 28

Biotin-Thiamine-Responsive Basal Ganglia Disease (BBGD)

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 24 52 25 29 6
Biotin-Responsive Basal Ganglia Disease 24 52 25
Thiamine Transporter-2 Deficiency 24 25 29
Btbgd 24 25
Bbgd 52 25
Thiamine Metabolism Dysfunction Syndrome 2 25
Basal Ganglia Disease, Biotin-Responsive 71
Thiamine-Responsive Encephalopathy 25
Thmd2 25

Classifications:



External Ids:

UMLS 71 C1843807

Summaries for Biotin-Thiamine-Responsive Basal Ganglia Disease

Genetics Home Reference : 25 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 brain and eye.

NIH Rare Diseases : 52 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

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

(show all 23)
# Related Disease Score Top Affiliating Genes
1 thiamine metabolism dysfunction syndrome 2 12.2
2 basal ganglia disease 10.9
3 encephalopathy 10.7
4 dystonia 10.7
5 dysphagia 10.5
6 leigh syndrome 10.5
7 ocular motor apraxia 10.3
8 kearns-sayre syndrome 10.3
9 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.3
10 autosomal recessive disease 10.3
11 spastic quadriplegia 10.3
12 respiratory failure 10.3
13 locked-in syndrome 10.3
14 quadriplegia 10.3
15 facial paralysis 10.3
16 tremor 10.3
17 neurometabolic disease 10.3
18 kawasaki disease 10.1
19 megaloblastic anemia 10.1
20 inherited metabolic disorder 10.1
21 hereditary dystonia 10.1
22 depression 10.1
23 lactic acidosis 10.1

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 29 SLC19A3
2 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
Brain, Eye

Publications for Biotin-Thiamine-Responsive Basal Ganglia Disease

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

(show all 37)
# Title Authors PMID Year
1
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. 24 61
23742248 2013
2
Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. 61 24
23589815 2013
3
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. 24
23482991 2013
4
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. 24
23423671 2013
5
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. 24
23269594 2013
6
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. 24
21176162 2010
7
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. 24
20065143 2010
8
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy. 24
19387023 2009
9
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. 24
16790503 2006
10
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. 24
15871139 2005
11
Biotin-responsive basal ganglia disease: a novel entity. 24
9679779 1998
12
Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening. 61
31557427 2019
13
Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature. 61
31061755 2019
14
[Paroxysmal crying and motor regression for more than two months in an infant]. 61
31014436 2019
15
Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease? 61
30054086 2018
16
Biotin-Thiamine-Responsive Basal Ganglia Disease-A Treatable Metabolic Disorder. 61
30119991 2018
17
[Biotin-thiamine-responsive basal ganglia disease]. 61
29886612 2018
18
SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review. 61
28962040 2018
19
Biotin Thiamin Responsive Basal Ganglia Disease in Siblings. 61
29101630 2018
20
Biotin-Thiamine-Responsive Basal Ganglia Disease: Case Report and Follow-Up of a Patient With Poor Compliance. 61
29770345 2018
21
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. 61
28696212 2017
22
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
23
Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment. 61
27905264 2017
24
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease. 61
28677371 2017
25
Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease. 61
28944253 2017
26
Biotin thiamine responsive basal ganglia disease-A potentially treatable inborn error of metabolism. 61
27841215 2016
27
A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended? 61
27749535 2016
28
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy. 61
26863430 2016
29
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome. 61
26657515 2016
30
Nuclear Gene-Encoded Leigh Syndrome Overview 61
26425749 2015
31
Wernicke encephalopathy in children and adolescents. 61
25515801 2014
32
Thiamine transporter-2 deficiency: outcome and treatment monitoring. 61
24957181 2014
33
Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease. 61
24372704 2014
34
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. 61
27896110 2014
35
Biotin-Thiamine-Responsive Basal Ganglia Disease 61
24260777 2013
36
Treatable Leigh-like encephalopathy presenting in adolescence. 61
24099834 2013
37
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. 61
22777947 2012

Variations for Biotin-Thiamine-Responsive Basal Ganglia Disease

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

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC19A3 NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)SNV Pathogenic 4562 rs121917882 2:228566967-228566967 2:227702251-227702251
2 SLC19A3 NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala)SNV Pathogenic 4563 rs121917884 2:228552932-228552932 2:227688216-227688216
3 SLC19A3 SLC19A3, IVS3AS, A-G, -14SNV Pathogenic 4564
4 SLC19A3 NM_025243.4(SLC19A3):c.130A>G (p.Lys44Glu)SNV Pathogenic 4565 rs137852957 2:228566905-228566905 2:227702189-227702189
5 SLC19A3 NM_025243.4(SLC19A3):c.958G>C (p.Glu320Gln)SNV Pathogenic 4566 rs137852958 2:228563473-228563473 2:227698757-227698757
6 SLC19A3 SLC19A3, 1-BP DUP, 74Tduplication Pathogenic 4567
7 SLC19A3 NM_025243.4(SLC19A3):c.20C>A (p.Ser7Ter)SNV Pathogenic 162137 rs713993048 2:228567015-228567015 2:227702299-227702299
8 SLC19A3 NM_025243.4(SLC19A3):c.74dup (p.Ser26fs)duplication Pathogenic 190224 rs786205213 2:228566961-228566961 2:227702245-227702245
9 SLC19A3 NM_025243.4(SLC19A3):c.1154T>G (p.Leu385Arg)SNV Pathogenic 215161 rs563607795 2:228560623-228560623 2:227695907-227695907
10 SLC19A3 NM_025243.3(SLC19A3):c.-4404_-3+408deldeletion Pathogenic 425554 2:228582251-228587060 2:227717535-227722344
11 SLC19A3 NM_025243.4(SLC19A3):c.1274_1276TAG[1] (p.Val426del)short repeat Pathogenic 438725 rs1553568249 2:228552918-228552920 2:227688202-227688204
12 SLC19A3 NM_025243.4(SLC19A3):c.962C>T (p.Ala321Val)SNV Pathogenic 438728 rs1282844765 2:228563469-228563469 2:227698753-227698753
13 SLC19A3 NM_025243.4(SLC19A3):c.850T>C (p.Trp284Arg)SNV Pathogenic 438729 rs1553571227 2:228563581-228563581 2:227698865-227698865
14 SLC19A3 NM_025243.4(SLC19A3):c.265A>C (p.Ser89Arg)SNV Pathogenic 438726 rs759807393 2:228564166-228564166 2:227699450-227699450
15 SLC19A3 NM_025243.4(SLC19A3):c.197T>C (p.Leu66Pro)SNV Pathogenic 438727 rs1553571813 2:228564234-228564234 2:227699518-227699518
16 SLC19A3 NM_025243.4(SLC19A3):c.980-14A>GSNV Pathogenic 446038 rs200542114 2:228560811-228560811 2:227696095-227696095
17 SLC19A3 NM_025243.4(SLC19A3):c.81_82dup (p.Met28fs)duplication Pathogenic 369672 rs775835429 2:228566953-228566954 2:227702237-227702238
18 SLC19A3 NM_025243.4(SLC19A3):c.541T>C (p.Ser181Pro)SNV Pathogenic 488596 rs773971505 2:228563890-228563890 2:227699174-227699174
19 SLC19A3 NM_025243.4(SLC19A3):c.597dup (p.His200fs)duplication Pathogenic 533549 rs773140674 2:228563834-228563834 2:227699118-227699118
20 SLC19A3 NM_025243.4(SLC19A3):c.1079dup (p.Leu360fs)duplication Pathogenic 579605 rs1559247315 2:228560698-228560698 2:227695982-227695982
21 SLC19A3 NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His)SNV Pathogenic/Likely pathogenic 369673 rs145999922 2:228564094-228564094 2:227699378-227699378
22 SLC19A3 NM_025243.4(SLC19A3):c.111del (p.Tyr38fs)deletion Likely pathogenic 590823 rs1559252723 2:228566924-228566924 2:227702208-227702208
23 SLC19A3 NM_025243.4(SLC19A3):c.390G>T (p.Val130=)SNV Conflicting interpretations of pathogenicity 334882 rs376187918 2:228564041-228564041 2:227699325-227699325
24 SLC19A3 NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn)SNV Conflicting interpretations of pathogenicity 288883 rs145288025 2:228560632-228560632 2:227695916-227695916
25 SLC19A3 NM_025243.4(SLC19A3):c.399C>G (p.Pro133=)SNV Conflicting interpretations of pathogenicity 290414 rs138363524 2:228564032-228564032 2:227699316-227699316
26 SLC19A3 NM_025243.4(SLC19A3):c.99A>G (p.Pro33=)SNV Conflicting interpretations of pathogenicity 334883 rs17853011 2:228566936-228566936 2:227702220-227702220
27 SLC19A3 NM_025243.4(SLC19A3):c.613A>G (p.Arg205Gly)SNV Conflicting interpretations of pathogenicity 334880 rs199558186 2:228563818-228563818 2:227699102-227699102
28 SLC19A3 NM_025243.4(SLC19A3):c.1112C>T (p.Ala371Val)SNV Conflicting interpretations of pathogenicity 215156 rs142166552 2:228560665-228560665 2:227695949-227695949
29 SLC19A3 NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)SNV Conflicting interpretations of pathogenicity 215152 rs145804755 2:228563810-228563810 2:227699094-227699094
30 SLC19A3 NM_025243.4(SLC19A3):c.557T>C (p.Phe186Ser)SNV Conflicting interpretations of pathogenicity 215151 rs116533505 2:228563874-228563874 2:227699158-227699158
31 SLC19A3 NM_025243.4(SLC19A3):c.801A>G (p.Gln267=)SNV Conflicting interpretations of pathogenicity 281501 rs147205930 2:228563630-228563630 2:227698914-227698914
32 SLC19A3 NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser)SNV Conflicting interpretations of pathogenicity 139123 rs148144444 2:228564010-228564010 2:227699294-227699294
33 SLC19A3 NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile)SNV Uncertain significance 285907 rs780569649 2:228564106-228564106 2:227699390-227699390
34 SLC19A3 NM_025243.4(SLC19A3):c.187T>C (p.Tyr63His)SNV Uncertain significance 212193 rs144817990 2:228564244-228564244 2:227699528-227699528
35 SLC19A3 NM_025243.4(SLC19A3):c.1379_1381dup (p.Ile460dup)duplication Uncertain significance 215160 rs756676536 2:228552223-228552225 2:227687507-227687509
36 SLC19A3 NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val)SNV Uncertain significance 334879 rs747823282 2:228563454-228563454 2:227698738-227698738
37 SLC19A3 duplication Uncertain significance 464951 2:227687377-227702338
38 SLC19A3 NM_025243.4(SLC19A3):c.781G>A (p.Val261Ile)SNV Uncertain significance 533548 rs779016400 2:228563650-228563650 2:227698934-227698934
39 SLC19A3 NM_025243.4(SLC19A3):c.151A>G (p.Ile51Val)SNV Uncertain significance 533545 rs764398318 2:228564280-228564280 2:227699564-227699564
40 SLC19A3 NM_025243.4(SLC19A3):c.917A>G (p.Lys306Arg)SNV Uncertain significance 533542 rs1453716517 2:228563514-228563514 2:227698798-227698798
41 SLC19A3 NM_025243.4(SLC19A3):c.697C>G (p.Pro233Ala)SNV Uncertain significance 464954 rs756864477 2:228563734-228563734 2:227699018-227699018
42 SLC19A3 NM_025243.4(SLC19A3):c.461G>A (p.Gly154Glu)SNV Uncertain significance 464953 rs202145913 2:228563970-228563970 2:227699254-227699254
43 SLC19A3 NM_025243.4(SLC19A3):c.914A>G (p.Tyr305Cys)SNV Uncertain significance 464955 rs189540672 2:228563517-228563517 2:227698801-227698801
44 SLC19A3 NM_025243.4(SLC19A3):c.1364T>G (p.Met455Arg)SNV Uncertain significance 533547 rs1308805272 2:228552240-228552240 2:227687524-227687524
45 SLC19A3 NM_025243.4(SLC19A3):c.637G>C (p.Val213Leu)SNV Uncertain significance 533543 rs534012377 2:228563794-228563794 2:227699078-227699078
46 SLC19A3 NM_025243.4(SLC19A3):c.562C>G (p.Leu188Val)SNV Uncertain significance 596366 2:228563869-228563869 2:227699153-227699153
47 SLC19A3 NM_025243.4(SLC19A3):c.548C>T (p.Ala183Val)SNV Uncertain significance 635037 rs199970847 2:228563883-228563883 2:227699167-227699167
48 SLC19A3 NM_025243.4(SLC19A3):c.1451C>T (p.Pro484Leu)SNV Uncertain significance 652148 2:228552153-228552153 2:227687437-227687437
49 SLC19A3 NM_025243.4(SLC19A3):c.1448A>G (p.His483Arg)SNV Uncertain significance 647857 2:228552156-228552156 2:227687440-227687440
50 SLC19A3 NM_025243.4(SLC19A3):c.1339G>A (p.Ala447Thr)SNV Uncertain significance 655252 2:228552265-228552265 2:227687549-227687549

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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