MCID: THM026
MIFTS: 25

Thiamine Deficiency Disease

Categories: Metabolic diseases

Aliases & Classifications for Thiamine Deficiency Disease

MalaCards integrated aliases for Thiamine Deficiency Disease:

Name: Thiamine Deficiency Disease 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0070313
NCIt 49 C34418
SNOMED-CT 67 399357009
ICD10 32 E51.9

Summaries for Thiamine Deficiency Disease

Disease Ontology : 12 A nutritional deficiency disease that is characterized by low levels of thiamine.

MalaCards based summary : Thiamine Deficiency Disease is related to beriberi and alcoholic neuropathy. An important gene associated with Thiamine Deficiency Disease is TKT (Transketolase), and among its related pathways/superpathways are Metabolism and Carbon metabolism. Related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Thiamine Deficiency Disease

Diseases related to Thiamine Deficiency Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 beriberi 30.7 TPK1 TKT THTPA SLC35F3 SLC25A19 SLC19A3
2 alcoholic neuropathy 10.4 TKT THTPA
3 inflammatory and toxic neuropathy 10.4 TKT THTPA
4 cholinergic urticaria 10.4 SERPINA3 ACHE
5 thiamine metabolism dysfunction syndrome 2 10.4 TPK1 SLC19A3 SLC19A2
6 folate malabsorption, hereditary 10.3 SLC19A3 SLC19A2
7 conjunctival nevus 10.3 TKTL1 NGF
8 neurotrophic keratoconjunctivitis 10.3 NGF BDNF
9 atypical depressive disorder 10.3 SERPINA3 BDNF
10 cataract 38 10.3 NGF CHAT
11 neuromuscular junction disease 10.3 SERPINA3 CHAT ACHE
12 adrenal gland pheochromocytoma 10.2 NGF BDNF
13 scrapie 10.2 SERPINA3 CHAT ACHE
14 megaloblastic anemia 10.2 TPK1 TKT SLC19A3 SLC19A2
15 diabetic encephalopathy 10.2 NGF BDNF
16 chronic cystitis 10.2 NGF BDNF
17 tendinosis 10.2 CHAT BDNF ACHE
18 anterograde amnesia 10.2 BDNF ACHE
19 amnestic disorder 10.2 CHAT BDNF ACHE
20 retrograde amnesia 10.1 BDNF ACHE
21 ocular dominance 10.1 NGF CHAT BDNF
22 meningoencephalitis 10.1 SERPINA3 NGF BDNF
23 normal pressure hydrocephalus 10.1 SERPINA3 NGF BDNF
24 simultanagnosia 10.1 ADAMTS2 ACHE
25 nominal aphasia 10.0 ADAMTS2 ACHE
26 vascular dementia 10.0 SERPINA3 NGF CHAT ACHE
27 autonomic nervous system neoplasm 10.0 SERPINA3 NGF BDNF
28 neuropathy, hereditary sensory and autonomic, type v 10.0 NGF BDNF
29 peripheral nervous system neoplasm 10.0 SERPINA3 NGF BDNF
30 neuromuscular disease 9.9 SERPINA3 CHAT BDNF ACHE
31 central nervous system disease 9.9 SERPINA3 NGF CHAT BDNF
32 cannabis abuse 9.9 NGF BDNF
33 peripheral nervous system disease 9.9 SERPINA3 NGF BDNF ACHE
34 specific developmental disorder 9.9 SERPINA3 NGF BDNF
35 pyomyositis 9.8
36 wernicke encephalopathy 9.8 TPK1 TKT THTPA SLC19A3 SLC19A2 OGDH
37 toxic encephalopathy 9.8 SERPINA3 NGF CHAT BDNF ACHE
38 supranuclear palsy, progressive, 1 9.8 SERPINA3 CHAT ADAMTS2 ACHE
39 dementia 9.8 SERPINA3 NGF CHAT BDNF ACHE
40 dry beriberi 9.7 TKT THTPA SLC35F3 SLC25A19 SLC19A3 SLC19A2
41 wet beriberi 9.7 TKT SLC35F3 SLC19A3 SLC19A2 EPHA3 BMX
42 speech and communication disorders 9.6 NGF BDNF ADAMTS2 ACHE
43 optic nerve disease 9.6 SERPINA3 NGF BDNF
44 dementia, lewy body 9.6 SERPINA3 CHAT BDNF ADAMTS2 ACHE
45 disease of mental health 9.5 SERPINA3 NGF BDNF ADAMTS2 ACHE
46 pick disease of brain 9.3 SERPINA3 NGF CHAT BDNF ADAMTS2 ACHE
47 parkinson disease, late-onset 9.3 SERPINA3 OGDH NGF EPHA3 CHAT BDNF
48 wernicke-korsakoff syndrome 7.0 TPK1 TKTL2 TKTL1 TKT THTPA SLC25A19

Graphical network of the top 20 diseases related to Thiamine Deficiency Disease:



Diseases related to Thiamine Deficiency Disease

Symptoms & Phenotypes for Thiamine Deficiency Disease

MGI Mouse Phenotypes related to Thiamine Deficiency Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 ACHE BDNF CHAT EPHA3 FOXB1 NGF
2 growth/size/body region MP:0005378 9.73 ACHE ADAMTS2 BDNF CHAT FOXB1 NGF
3 mortality/aging MP:0010768 9.44 ACHE BDNF CHAT EPHA3 FOXB1 NGF

Drugs & Therapeutics for Thiamine Deficiency Disease

Search Clinical Trials , NIH Clinical Center for Thiamine Deficiency Disease

Genetic Tests for Thiamine Deficiency Disease

Anatomical Context for Thiamine Deficiency Disease

Publications for Thiamine Deficiency Disease

Articles related to Thiamine Deficiency Disease:

# Title Authors PMID Year
1
Re-emergence of thiamine deficiency disease in the Pacific islands (2014-15): A case-control study. 61
29879174 2018
2
Pharmacokinetics of thiamine in female Baltic salmon (Salmo salar L.) broodfish. 61
21783470 2005
3
Elevation of blood keto acids in cerebrocortical necrosis. 61
7292935 1981
4
Tropical pyomyositis, a thiamine-deficiency disease. 61
7219252 1981

Variations for Thiamine Deficiency Disease

Expression for Thiamine Deficiency Disease

Search GEO for disease gene expression data for Thiamine Deficiency Disease.

Pathways for Thiamine Deficiency Disease

Pathways related to Thiamine Deficiency Disease according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.75 TPK1 TKTL2 TKTL1 TKT THTPA SLC25A19
2
Show member pathways
11.88 TKTL2 TKTL1 TKT OGDH
3 11.72 NGF EPHA3 BDNF
4
Show member pathways
11.63 TPK1 THTPA SLC25A19 SLC19A3 SLC19A2
5 11.45 NGF EPHA3 BMX BDNF
6 11.44 NGF CHAT BDNF
7
Show member pathways
11.12 TKTL2 TKTL1 TKT
8
Show member pathways
10.84 CHAT ACHE
9 10.64 TPK1 THTPA
10 10.48 CHAT ACHE
11 9.8 CHAT ACHE

GO Terms for Thiamine Deficiency Disease

Biological processes related to Thiamine Deficiency Disease according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.71 NGF EPHA3 BDNF
2 neurotrophin TRK receptor signaling pathway GO:0048011 9.52 NGF BDNF
3 nerve development GO:0021675 9.51 NGF BDNF
4 neurotransmitter biosynthetic process GO:0042136 9.49 CHAT ACHE
5 nerve growth factor signaling pathway GO:0038180 9.48 NGF BDNF
6 thalamus development GO:0021794 9.46 OGDH FOXB1
7 vitamin transport GO:0051180 9.43 SLC19A3 SLC19A2
8 thiamine metabolic process GO:0006772 9.43 TPK1 TKTL1 THTPA
9 positive regulation of collateral sprouting GO:0048672 9.4 NGF BDNF
10 vitamin transmembrane transport GO:0035461 9.37 SLC19A3 SLC19A2
11 thiamine transmembrane transport GO:0071934 9.33 SLC25A19 SLC19A3 SLC19A2
12 axon target recognition GO:0007412 9.32 FOXB1 BDNF
13 thiamine transport GO:0015888 9.13 SLC35F3 SLC19A3 SLC19A2
14 thiamine-containing compound metabolic process GO:0042723 9.02 TPK1 THTPA SLC25A19 SLC19A3 SLC19A2

Molecular functions related to Thiamine Deficiency Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 thiamine transmembrane transporter activity GO:0015234 9.33 SLC25A19 SLC19A3 SLC19A2
2 vitamin transmembrane transporter activity GO:0090482 9.32 SLC19A3 SLC19A2
3 nerve growth factor receptor binding GO:0005163 9.26 NGF BDNF
4 transketolase activity GO:0004802 9.13 TKTL2 TKTL1 TKT
5 thiamine pyrophosphate binding GO:0030976 8.92 TKTL2 TKTL1 TKT OGDH

Sources for Thiamine Deficiency Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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