THMD2
MCID: THM010
MIFTS: 49

Thiamine Metabolism Dysfunction Syndrome 2 (THMD2)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Thiamine Metabolism Dysfunction Syndrome 2

MalaCards integrated aliases for Thiamine Metabolism Dysfunction Syndrome 2:

Name: Thiamine Metabolism Dysfunction Syndrome 2 57 13
Biotin-Responsive Basal Ganglia Disease 12 58 72 36 29 6 15
Basal Ganglia Disease, Biotin-Responsive 57 44 70
Btbgd 57 58 72
Bbgd 57 58 72
Thiamine-Responsive Encephalopathy 58 72
Thmd2 57 72
Thiamine Metabolism Dysfunction Syndrome 2, Biotin- or Thiamine-Responsive Type 72
Biotin-Thiamine-Responsive Basal Ganglia Disease 58
Thiamine Metabolism Dysfunction Syndrome, Type 2 39
Basal Ganglia Disease, Biotin-Responsive; Bbgd 57
Encephalopathy, Thiamine-Responsive 57

Characteristics:

Orphanet epidemiological data:

58
thiamine-responsive encephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
biotin-thiamine-responsive basal ganglia disease
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset (birth to adolescence)
may be precipitated by minor illness (e.g., viral infection, fever)
responsive to high-dose biotin or biotin/thiamine treatment
dystonia and seizures may persist after resolution of episodes


HPO:

31
thiamine metabolism dysfunction syndrome 2:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0050659
OMIM® 57 607483
OMIM Phenotypic Series 57 PS249270
KEGG 36 H01231
MESH via Orphanet 45 C537658
ICD10 via Orphanet 33 G93.8
UMLS via Orphanet 71 C1843807
MedGen 41 C1843807
UMLS 70 C1843807

Summaries for Thiamine Metabolism Dysfunction Syndrome 2

OMIM® : 57 Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by Debs et al., 2010). For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (249270). (607483) (Updated 20-May-2021)

MalaCards based summary : Thiamine Metabolism Dysfunction Syndrome 2, also known as biotin-responsive basal ganglia disease, is related to basal ganglia disease and megaloblastic anemia, and has symptoms including ataxia, dysphagia and dystonia. An important gene associated with Thiamine Metabolism Dysfunction Syndrome 2 is SLC19A3 (Solute Carrier Family 19 Member 3), and among its related pathways/superpathways are Vitamin digestion and absorption and Metabolism. Affiliated tissues include brain, and related phenotypes are global developmental delay and psychomotor retardation

Disease Ontology : 12 A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has symptom confusion, has symptom seizure, has symptom ataxia, has symptom dystonia, has symptom supranuclear facial palsy, has symptom external ophthalmoplegia, and has symptom dysphagia.

KEGG : 36 Biotin-responsive basal ganglia disease (BBGD) is a rare autosomal recessive disorder. The disease has its onset in childhood, and is characterized by episodic encephalopathy presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. BBGD symptoms disappear within a few days with the administration of high doses of biotin (5-10 mg/kg/d). It has been reported that BBGD is due to mutations in the transporter gene SLC19A3.

UniProtKB/Swiss-Prot : 72 Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type: An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia.

Related Diseases for Thiamine Metabolism Dysfunction Syndrome 2

Diseases in the Thiamine Metabolism Dysfunction Syndrome 2 family:

Thiamine Metabolism Dysfunction Syndrome 4 Thiamine Metabolism Dysfunction Syndrome 5

Diseases related to Thiamine Metabolism Dysfunction Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 basal ganglia disease 31.1 SLC5A6 SLC19A3 SLC19A2
2 megaloblastic anemia 29.5 TPK1 SLC46A1 SLC19A3 SLC19A2 SLC19A1
3 biotin-thiamine-responsive basal ganglia disease 11.6
4 dystonia 10.6
5 encephalopathy 10.5
6 lactic acidosis 10.4
7 leigh syndrome 10.3
8 kearns-sayre syndrome 10.3
9 autosomal recessive disease 10.3
10 dysphagia 10.3
11 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.3
12 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.3
13 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.3
14 west syndrome 10.3
15 respiratory failure 10.3
16 facial paralysis 10.3
17 status epilepticus 10.3
18 pathologic nystagmus 10.3
19 tremor 10.3
20 neurometabolic disease 10.3
21 ocular motor apraxia 10.2
22 ataxia and polyneuropathy, adult-onset 10.2
23 kawasaki disease 10.2
24 spastic quadriplegia 10.2
25 quadriplegia 10.2
26 inherited metabolic disorder 10.2
27 hereditary dystonia 10.2
28 dry beriberi 10.1 SLC19A3 SLC19A2
29 wet beriberi 10.1 SLC19A3 SLC19A2
30 methotrexate toxicity 10.1 SLC46A1 SLC19A1
31 thiamine-responsive megaloblastic anemia syndrome 10.0 SLC19A3 SLC19A2 SLC19A1
32 holocarboxylase synthetase deficiency 9.9 SLC5A6 BTD
33 biotinidase deficiency 9.9 SLC5A6 BTD
34 thiamine deficiency disease 9.8 TPK1 SLC19A3 SLC19A2
35 wernicke encephalopathy 9.8 TPK1 SLC19A3 SLC19A2
36 biotin deficiency 9.8 SLC5A6 SLC19A3 BTD
37 wernicke-korsakoff syndrome 9.8 TPK1 SLC19A3 SLC19A2
38 multiple carboxylase deficiency 9.8 SLC5A6 BTD
39 folate malabsorption, hereditary 9.8 SLC46A1 SLC19A3 SLC19A2 SLC19A1
40 pyridoxamine 5-prime-phosphate oxidase deficiency 9.7 QDPR BTD
41 beriberi 9.6 TPK1 SLC5A6 SLC19A3 SLC19A2
42 tyrosinemia 9.5 QDPR BTD

Graphical network of the top 20 diseases related to Thiamine Metabolism Dysfunction Syndrome 2:



Diseases related to Thiamine Metabolism Dysfunction Syndrome 2

Symptoms & Phenotypes for Thiamine Metabolism Dysfunction Syndrome 2

Human phenotypes related to Thiamine Metabolism Dysfunction Syndrome 2:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 psychomotor retardation 31 very rare (1%) HP:0025356
3 ptosis 31 HP:0000508
4 nystagmus 31 HP:0000639
5 dysarthria 31 HP:0001260
6 dysphagia 31 HP:0002015
7 hypertonia 31 HP:0001276
8 fever 31 HP:0001945
9 irritability 31 HP:0000737
10 dystonia 31 HP:0001332
11 gait ataxia 31 HP:0002066
12 babinski sign 31 HP:0003487
13 encephalopathy 31 HP:0001298
14 external ophthalmoplegia 31 HP:0000544
15 rigidity 31 HP:0002063
16 coma 31 HP:0001259
17 confusion 31 HP:0001289
18 muscular hypotonia of the trunk 31 HP:0008936
19 inability to walk 31 HP:0002540
20 paraparesis 31 HP:0002385
21 mutism 31 HP:0002300
22 craniofacial dystonia 31 HP:0012179
23 abnormality of the basal ganglia 31 HP:0002134
24 morphological abnormality of the pyramidal tract 31 HP:0002062
25 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
dysarthria
irritability
dystonia
gait ataxia
more
Abdomen Gastrointestinal:
dysphagia
swallowing difficulties

Head And Neck Eyes:
ptosis
nystagmus
external ophthalmoplegia
gaze palsy

Head And Neck Face:
facial dystonia

Clinical features from OMIM®:

607483 (Updated 20-May-2021)

Symptoms:

12
  • ataxia
  • dysphagia
  • dystonia
  • external ophthalmoplegia
  • confusion
  • seizure
  • supranuclear facial palsy

UMLS symptoms related to Thiamine Metabolism Dysfunction Syndrome 2:


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

GenomeRNAi Phenotypes related to Thiamine Metabolism Dysfunction Syndrome 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 9.32 SLC26A1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 9.32 SLC19A2 SLC19A3 SLC26A1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-140 9.32 SLC26A1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.32 SLC26A1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 9.32 SLC26A1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-24 9.32 SLC26A1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 9.32 SLC19A3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-64 9.32 SLC19A3

MGI Mouse Phenotypes related to Thiamine Metabolism Dysfunction Syndrome 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 BTD QDPR SLC19A1 SLC19A2 SLC19A3 SLC26A1
2 digestive/alimentary MP:0005381 9.55 SLC19A1 SLC19A2 SLC19A3 SLC26A1 SLC5A6
3 renal/urinary system MP:0005367 9.02 BTD SLC19A1 SLC19A3 SLC26A1 SLC5A6

Drugs & Therapeutics for Thiamine Metabolism Dysfunction Syndrome 2

Search Clinical Trials , NIH Clinical Center for Thiamine Metabolism Dysfunction Syndrome 2

Cochrane evidence based reviews: basal ganglia disease, biotin-responsive

Genetic Tests for Thiamine Metabolism Dysfunction Syndrome 2

Genetic tests related to Thiamine Metabolism Dysfunction Syndrome 2:

# Genetic test Affiliating Genes
1 Biotin-Responsive Basal Ganglia Disease 29 SLC19A3

Anatomical Context for Thiamine Metabolism Dysfunction Syndrome 2

MalaCards organs/tissues related to Thiamine Metabolism Dysfunction Syndrome 2:

40
Brain

Publications for Thiamine Metabolism Dysfunction Syndrome 2

Articles related to Thiamine Metabolism Dysfunction Syndrome 2:

(show all 46)
# Title Authors PMID Year
1
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. 61 57 6
20065143 2010
2
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. 6 57 61
15871139 2005
3
Case 38-2017. A 20-Year-Old Woman with Seizures and Progressive Dystonia. 6 57
29236641 2017
4
Thiamine transporter-2 deficiency: outcome and treatment monitoring. 6 57
24957181 2014
5
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy. 6 57
23482991 2013
6
Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome. 6 57
23423671 2013
7
Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy. 57 6
19387023 2009
8
Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome. 6 61
24166474 2014
9
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
23742248 2013
10
Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. 61 6
22777947 2012
11
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. 6 61
16790503 2006
12
Biotin-responsive basal ganglia disease: a novel entity. 61 57
9679779 1998
13
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. 6
29453417 2018
14
Biotin Thiamin Responsive Basal Ganglia Disease in Siblings. 6
29101630 2018
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
A case report of biotin-thiamine-responsive basal ganglia disease in a Saudi child: Is extended genetic family study recommended? 6
27749535 2016
18
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre. 6
27290639 2016
19
Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy. 6
26863430 2016
20
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome. 6
26657515 2016
21
Thiamine Deficiency-Mediated Brain Mitochondrial Pathology in Alaskan Huskies with Mutation in SLC19A3.1. 57
25117056 2015
22
Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. 57
24878500 2014
23
Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. 57
24878501 2014
24
Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease. 57
24878502 2014
25
Whole exome sequencing reveals compound heterozygous mutations in SLC19A3 causing biotin-thiamine responsive basal ganglia disease. 6
27896110 2014
26
Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency. 6
23589815 2013
27
Genome-wide association analysis identifies a mutation in the thiamine transporter 2 (SLC19A3) gene associated with Alaskan Husky encephalopathy. 57
23469184 2013
28
Unusual case of biotin-thiamine responsive encephalopathy without basal ganglia involvement. 61
33000323 2021
29
Thiamine phosphokinase deficiency and mutation in TPK1 presenting as biotin responsive basal ganglia disease. 61
31404531 2019
30
SLC19A3 Gene Defects Sorting the Phenotype and Acronyms: Review. 61
28962040 2018
31
Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease. 61
28696212 2017
32
High-dose thiamine prevents brain lesions and prolongs survival of Slc19a3-deficient mice. 61
28665968 2017
33
Teaching NeuroImages: Biotin-responsive basal ganglia disease. 61
27164647 2016
34
Teaching NeuroImages: MRI findings of biotin-responsive basal ganglia disease before and after treatment. 61
26880816 2016
35
Depression in adult patients with biotin responsive basal ganglia disease. 61
27534451 2016
36
Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone. 61
26095097 2015
37
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing. 61
25876998 2015
38
Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment. 61
24812013 2014
39
Defects of thiamine transport and metabolism. 61
24789339 2014
40
Bilateral external ophthalmoplegia in biotin-responsive basal ganglia disease. 61
23360564 2013
41
Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors. 61
23506878 2013
42
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. 61
23269594 2013
43
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. 61
21176162 2010
44
Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood. 61
19491117 2009
45
Biotin-responsive basal ganglia disease: case report and review of the literature. 61
19294600 2008
46
[The varied etiologies of childhood-onset dystonia]. 61
11984483 2002

Variations for Thiamine Metabolism Dysfunction Syndrome 2

ClinVar genetic disease variations for Thiamine Metabolism Dysfunction Syndrome 2:

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.1274_1276TAG[1] (p.Val426del) Microsatellite Pathogenic 438725 rs1553568249 GRCh37: 2:228552917-228552919
GRCh38: 2:227688201-227688203
13 SLC19A3 NM_025243.4(SLC19A3):c.265A>C (p.Ser89Arg) SNV Pathogenic 438726 rs759807393 GRCh37: 2:228564166-228564166
GRCh38: 2:227699450-227699450
14 SLC19A3 NM_025243.4(SLC19A3):c.197T>C (p.Leu66Pro) SNV Pathogenic 438727 rs1553571813 GRCh37: 2:228564234-228564234
GRCh38: 2:227699518-227699518
15 SLC19A3 NM_025243.4(SLC19A3):c.962C>T (p.Ala321Val) SNV Pathogenic 438728 rs1282844765 GRCh37: 2:228563469-228563469
GRCh38: 2:227698753-227698753
16 SLC19A3 NM_025243.4(SLC19A3):c.850T>C (p.Trp284Arg) SNV Pathogenic 438729 rs1553571227 GRCh37: 2:228563581-228563581
GRCh38: 2:227698865-227698865
17 SLC19A3 NM_025243.4(SLC19A3):c.541T>C (p.Ser181Pro) SNV Pathogenic 488596 rs773971505 GRCh37: 2:228563890-228563890
GRCh38: 2:227699174-227699174
18 SLC19A3 NM_025243.4(SLC19A3):c.980-14A>G SNV Pathogenic 446038 rs200542114 GRCh37: 2:228560811-228560811
GRCh38: 2:227696095-227696095
19 SLC19A3 NM_025243.4(SLC19A3):c.1079dup (p.Leu360fs) Duplication Pathogenic 579605 rs1559247315 GRCh37: 2:228560697-228560698
GRCh38: 2:227695981-227695982
20 SLC19A3 NM_025243.4(SLC19A3):c.597dup (p.His200fs) Duplication Pathogenic 533549 rs773140674 GRCh37: 2:228563833-228563834
GRCh38: 2:227699117-227699118
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

UniProtKB/Swiss-Prot genetic disease variations for Thiamine Metabolism Dysfunction Syndrome 2:

72
# Symbol AA change Variation ID SNP ID
1 SLC19A3 p.Gly23Val VAR_025992 rs121917882
2 SLC19A3 p.Thr422Ala VAR_025993 rs121917884

Expression for Thiamine Metabolism Dysfunction Syndrome 2

Search GEO for disease gene expression data for Thiamine Metabolism Dysfunction Syndrome 2.

Pathways for Thiamine Metabolism Dysfunction Syndrome 2

Pathways related to Thiamine Metabolism Dysfunction Syndrome 2 according to KEGG:

36
# Name Kegg Source Accession
1 Vitamin digestion and absorption hsa04977

GO Terms for Thiamine Metabolism Dysfunction Syndrome 2

Cellular components related to Thiamine Metabolism Dysfunction Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.33 SLC5A6 SLC46A1 SLC19A1
2 brush border membrane GO:0031526 9.13 SLC5A6 SLC46A1 SLC19A1
3 basolateral plasma membrane GO:0016323 8.92 SLC5A6 SLC46A1 SLC26A1 SLC19A1

Biological processes related to Thiamine Metabolism Dysfunction Syndrome 2 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 folic acid transport GO:0015884 9.5 SLC46A1 SLC19A2 SLC19A1
2 folic acid metabolic process GO:0046655 9.49 SLC46A1 SLC19A1
3 biotin metabolic process GO:0006768 9.48 SLC5A6 BTD
4 folate import across plasma membrane GO:1904447 9.46 SLC46A1 SLC19A1
5 thiamine transmembrane transport GO:0071934 9.43 SLC19A3 SLC19A2
6 vitamin transport GO:0051180 9.43 SLC19A3 SLC19A2 SLC19A1
7 thiamine transport GO:0015888 9.4 SLC19A3 SLC19A2
8 methotrexate transport GO:0051958 9.37 SLC46A1 SLC19A1
9 vitamin transmembrane transport GO:0035461 9.33 SLC19A3 SLC19A2 SLC19A1
10 transmembrane transport GO:0055085 9.17 SLC5A6 SLC47A2 SLC46A1 SLC26A1 SLC19A3 SLC19A2
11 thiamine-containing compound metabolic process GO:0042723 9.13 TPK1 SLC19A3 SLC19A2

Molecular functions related to Thiamine Metabolism Dysfunction Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transmembrane transporter activity GO:0022857 9.58 SLC5A6 SLC47A2 SLC46A1
2 antiporter activity GO:0015297 9.5 SLC47A2 SLC26A1 SLC19A1
3 folic acid binding GO:0005542 9.37 SLC46A1 SLC19A1
4 thiamine transmembrane transporter activity GO:0015234 9.26 SLC19A3 SLC19A2
5 methotrexate transmembrane transporter activity GO:0015350 9.16 SLC46A1 SLC19A1
6 vitamin transmembrane transporter activity GO:0090482 9.13 SLC19A3 SLC19A2 SLC19A1
7 folic acid transmembrane transporter activity GO:0008517 8.8 SLC46A1 SLC19A2 SLC19A1

Sources for Thiamine Metabolism Dysfunction Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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