Aliases & Classifications for Ariboflavinosis

MalaCards integrated aliases for Ariboflavinosis:

Name: Ariboflavinosis 12 15
Vitamin B2 Deficiency 12 29 6
Riboflavin Deficiency 44 73

Classifications:



External Ids:

Disease Ontology 12 DOID:8454
ICD10 33 E53.0
ICD9CM 35 266.0
MeSH 44 D012257
UMLS 73 C0035528

Summaries for Ariboflavinosis

MalaCards based summary : Ariboflavinosis, also known as vitamin b2 deficiency, is related to riboflavin deficiency and kwashiorkor. An important gene associated with Ariboflavinosis is SLC52A1 (Solute Carrier Family 52 Member 1), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and NRF2 pathway. The drugs Riboflavin and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include testes.

Wikipedia : 76 Riboflavin, also known as vitamin B2, is a vitamin found in food and used as a dietary supplement. Food... more...

Related Diseases for Ariboflavinosis

Diseases related to Ariboflavinosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 riboflavin deficiency 30.1 GSR MTHFR SLC52A1
2 kwashiorkor 29.3 ALB TF
3 penicilliosis 10.2 TLR4 TLR6
4 stomatitis 10.1
5 keratomalacia 9.9 RBP4 TF
6 patterson pseudoleprechaunism syndrome 9.8
7 keratopathy 9.8
8 pellagra 9.8
9 blepharitis 9.8
10 plummer vinson syndrome 9.8
11 vitamin b12 deficiency 9.7 MTHFR TF
12 yellow nail syndrome 9.5 ALB TF
13 marasmus 9.5 ALB TF
14 pure red-cell aplasia 9.4 ALB TF
15 stroke, ischemic 9.4 HMGB1 MTHFR TLR4
16 legionnaires' disease 9.4 ALB TLR4 TLR6
17 filariasis 9.3 ALB TLR4 TLR6
18 analbuminemia 9.3 ALB TF
19 lipoid nephrosis 9.1 ALB TF
20 hepatic vascular disease 9.1 ALB MTHFR
21 nutritional deficiency disease 9.0 ALB MTHFR TF

Graphical network of the top 20 diseases related to Ariboflavinosis:



Diseases related to Ariboflavinosis

Symptoms & Phenotypes for Ariboflavinosis

Drugs & Therapeutics for Ariboflavinosis

Drugs for Ariboflavinosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Not Applicable 83-88-5 493570
2
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
3 Micronutrients Not Applicable
4 Dermatologic Agents Not Applicable
5 Trace Elements Not Applicable
6 Vitamin B Complex Not Applicable
7 Vitamins Not Applicable
8 Photosensitizing Agents Not Applicable
9 Folate Nutraceutical Not Applicable
10 Vitamin B2 Nutraceutical Not Applicable
11 Vitamin B9 Nutraceutical Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Evaluation of the Effect of Riboflavin Supplementation on Blood Pressure and Possible Effect Modification by the MTHFR C677T Genotype Not yet recruiting NCT03151096 Not Applicable

Search NIH Clinical Center for Ariboflavinosis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: riboflavin deficiency

Genetic Tests for Ariboflavinosis

Genetic tests related to Ariboflavinosis:

# Genetic test Affiliating Genes
1 Vitamin B2 Deficiency 29 SLC52A1

Anatomical Context for Ariboflavinosis

MalaCards organs/tissues related to Ariboflavinosis:

41
Testes

Publications for Ariboflavinosis

Articles related to Ariboflavinosis:

(show all 31)
# Title Authors Year
1
Soyamilk fermented with riboflavin-producing Lactobacillus plantarum CRL 2130 reverts and prevents ariboflavinosis in murine models. ( 27641762 )
2016
2
[Metazid-inducible vitamin B2 deficiency in rats and its prevention]. ( 8111300 )
1993
3
Biochemical ariboflavinosis among Nigerian rural school children. ( 6511484 )
1984
4
Nutritional and ariboflavinosis-curing effects of riboflavin-5'-monobutyrate and monopalmitate. ( 7363382 )
1980
5
Influence of glucose-6-phosphate dehydrogenase deficiency on the glutathione reductase test for ariboflavinosis. ( 4656452 )
1972
6
Angular stomatitis and biochemical ariboflavinosis in village pre-school children in Northeast Thailand. ( 5136715 )
1971
7
Physiological implications of reduced glutathione reductase activity of red blood cells in human ariboflavinosis. ( 4396781 )
1971
8
Ariboflavinosis keratopathy. ( 5353175 )
1969
9
Frequency analysis of electroencephalograms and latency of photically induced average evoked responses in children with ariboflavinosis (preliminary report). ( 5671796 )
1968
10
Malabsorption of vitamin B12 in ariboflavinosis due to defective vitamin B12-binding power of gastric mucosa. ( 5832642 )
1965
11
STUDIES ON FATTY ACID ESTERS OF FLAVINS. III. NUTRITIONAL AND ARIBOFLAVINOSIS-CURING EFFECTS. ( 14066704 )
1963
12
Salivary lysozyme: its relation to angular stomatitis in ariboflavinosis. ( 14482941 )
1961
13
Salivary lysozyme: its relation to angular stomatitis in ariboflavinosis. II. Lytic action of lysozyme upon Micrococcus lysodeikticus cultured with or without riboflavin. ( 14482940 )
1961
14
Observations on ariboflavinosis and kwashiorkor in Sicily. ( 13704534 )
1960
15
Reversible chronic recurrent keratitis with vascularization due to ariboflavinosis. ( 14381853 )
1955
16
Relation of protein and fat intake to growth and corneal vascularization in galactoflavin-produced ariboflavinosis. ( 13143446 )
1954
17
A peculiar ocular manifestation of ariboflavinosis. ( 12990190 )
1952
18
Endemic occurrence of ariboflavinosis and pellagra; clinical observations of so-called Shibi or Gatchaki in Tsugaru district. ( 14922404 )
1951
19
Epithelial changes in human ariboflavinosis; a histological study. ( 14783800 )
1950
20
Correlation of urinary excretion of riboflavin with dietary intake and symptoms of ariboflavinosis. ( 15422413 )
1950
21
Ariboflavinosis; with case report on parenchymatous keratitis following riboflavin deficiency. ( 15391867 )
1949
22
Angular blepharitis in ariboflavinosis, a not well known clinical manifestation of riboflavin deficiency. ( 18914530 )
1948
23
Eczematous keratitis and ariboflavinosis. ( 18103821 )
1948
24
Flare-up of trachomatous pannus due to ariboflavinosis. ( 18874336 )
1948
25
Relation between SjAPgren's disease, the Plummer-Vinson syndrome, and ariboflavinosis. ( 20250971 )
1947
26
Kwashiorkor and ariboflavinosis. ( 21028608 )
1946
27
Problems of Ariboflavinosis. ( 20785569 )
1944
28
The Ariboflavinosis Syndrome. ( 20784950 )
1943
29
Ariboflavinosis. ( 20784221 )
1942
30
Possible Ariboflavinosis in a Premature Infant. ( 21434024 )
1942
31
Clinical Manifestations of Ariboflavinosis. ( 18015415 )
1941

Variations for Ariboflavinosis

ClinVar genetic disease variations for Ariboflavinosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC52A1 SLC52A1, 1.9-KB DEL deletion Pathogenic
2 SLC52A1 deletion Pathogenic
3 SLC52A1 NM_071986.3: c.234+11G> A single nucleotide variant Pathogenic
4 SLC52A1 NM_017986.3(SLC52A1): c.928C> T (p.Arg310Cys) single nucleotide variant Uncertain significance rs778417188 GRCh37 Chromosome 17, 4936856: 4936856
5 SLC52A1 NM_017986.3(SLC52A1): c.928C> T (p.Arg310Cys) single nucleotide variant Uncertain significance rs778417188 GRCh38 Chromosome 17, 5033561: 5033561
6 SLC52A1 NM_017986.3(SLC52A1): c.628G> A (p.Ala210Thr) single nucleotide variant Uncertain significance rs139373407 GRCh38 Chromosome 17, 5033861: 5033861
7 SLC52A1 NM_017986.3(SLC52A1): c.628G> A (p.Ala210Thr) single nucleotide variant Uncertain significance rs139373407 GRCh37 Chromosome 17, 4937156: 4937156

Expression for Ariboflavinosis

Search GEO for disease gene expression data for Ariboflavinosis.

Pathways for Ariboflavinosis

GO Terms for Ariboflavinosis

Cellular components related to Ariboflavinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.7 ALB EPHA3 F2R HMGB1 HSPA1A RBP4
2 receptor complex GO:0043235 9.13 EPHA3 TLR4 TLR6
3 early endosome GO:0005769 9.02 EPHA3 F2R HMGB1 TF TLR4

Biological processes related to Ariboflavinosis according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.84 F2R HMGB1 TLR4 TLR6
2 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.8 F2R TLR4 TLR6
3 positive regulation of MAPK cascade GO:0043410 9.74 EPHA3 F2R HMGB1
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.72 HSPA1A TLR4 TLR6
5 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.67 EPHA3 F2R HMGB1 TLR4
6 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.64 TLR4 TLR6
7 cellular response to amyloid-beta GO:1904646 9.63 TLR4 TLR6
8 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.63 TLR4 TLR6
9 positive regulation of interleukin-8 production GO:0032757 9.62 HSPA1A TLR4
10 negative regulation of interferon-gamma production GO:0032689 9.61 HMGB1 TLR4
11 positive regulation of interleukin-1 beta secretion GO:0050718 9.61 HMGB1 TLR4
12 positive regulation of interferon-beta production GO:0032728 9.6 HMGB1 TLR4
13 positive regulation of interleukin-12 production GO:0032735 9.59 HMGB1 TLR4
14 positive regulation of interleukin-6 secretion GO:2000778 9.58 F2R HMGB1
15 positive regulation of interleukin-10 production GO:0032733 9.58 HMGB1 TLR4
16 activation of innate immune response GO:0002218 9.56 HMGB1 TLR4
17 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.52 TLR4 TLR6
18 positive regulation of macrophage activation GO:0043032 9.51 TLR4 TLR6
19 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.49 TLR4 TLR6
20 positive regulation of interferon-alpha production GO:0032727 9.48 HMGB1 TLR4
21 regulation of cytokine secretion GO:0050707 9.46 TLR4 TLR6
22 T-helper 1 type immune response GO:0042088 9.43 TLR4 TLR6
23 interleukin-1 beta secretion GO:0050702 9.4 TLR4 TLR6
24 toll-like receptor signaling pathway GO:0002224 9.33 HMGB1 TLR4 TLR6
25 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.32 TLR4 TLR6
26 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.26 TLR4 TLR6
27 positive regulation of oxidative stress-induced neuron death GO:1903223 8.96 TLR4 TLR6
28 positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070434 8.62 HSPA1A TLR4

Molecular functions related to Ariboflavinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.02 BMX F2R HSPA1A TLR4 TLR6
2 lipopolysaccharide binding GO:0001530 8.96 HMGB1 TLR4

Sources for Ariboflavinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MedGen
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45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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