Aliases & Classifications for Ariboflavinosis

MalaCards integrated aliases for Ariboflavinosis:

Name: Ariboflavinosis 12 15
Vitamin B2 Deficiency 12 30 6
Riboflavin Deficiency 45 74

Classifications:



External Ids:

Disease Ontology 12 DOID:8454
ICD9CM 36 266.0
MeSH 45 D012257
SNOMED-CT 69 20307000
ICD10 34 E53.0
UMLS 74 C0035528

Summaries for Ariboflavinosis

Disease Ontology : 12 A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has material basis in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis.

MalaCards based summary : Ariboflavinosis, also known as vitamin b2 deficiency, is related to riboflavin deficiency and stomatitis, and has symptoms including red chapped lips 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 liver, tongue and skin, and related phenotype is liver/biliary system.

Wikipedia : 77 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 top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 riboflavin deficiency 30.4 GSR MTHFR SLC52A1
2 stomatitis 10.2
3 neuropathy 10.2
4 kwashiorkor 10.2
5 cataract 10.1
6 peripheral nervous system disease 10.1
7 marasmus 10.1
8 penicilliosis 10.0 TLR4 TLR6
9 patterson pseudoleprechaunism syndrome 10.0
10 keratopathy 10.0
11 pellagra 10.0
12 blepharitis 10.0
13 plummer vinson syndrome 10.0
14 malaria 10.0
15 hypothyroidism 10.0
16 gastric cardia carcinoma 10.0 MTHFR TLR4
17 diabetes mellitus, noninsulin-dependent 9.9
18 endocervicitis 9.8 CCL2 TLR4
19 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.8
20 cleft palate, isolated 9.8
21 esophageal cancer 9.8
22 down syndrome 9.8
23 cystic fibrosis 9.8
24 multiple acyl-coa dehydrogenase deficiency 9.8
25 diabetes mellitus 9.8
26 epidemic typhus 9.8
27 endemic typhus 9.8
28 angular cheilitis 9.8
29 gastric ulcer 9.8
30 keratomalacia 9.8
31 heart disease 9.8
32 superficial keratitis 9.8
33 polyneuropathy 9.8
34 demyelinating polyneuropathy 9.8
35 lymphosarcoma 9.8
36 exencephaly 9.8
37 granulocytopenia 9.8
38 pyridoxine deficiency 9.8
39 acute motor and sensory axonal neuropathy 9.8
40 retinal vascular occlusion 9.8 CCL2 MTHFR
41 anterior uveitis 9.8 CCL2 TLR4
42 grange syndrome 9.8 CCL2 MTHFR
43 hepatic vascular disease 9.8 ALB MTHFR
44 legionnaires' disease 9.7 ALB TLR4 TLR6
45 filariasis 9.7 ALB TLR4 TLR6
46 ascending cholangitis 9.7 ALB CCL2
47 bacteriuria 9.7 CCL2 TLR4
48 pulmonary artery disease 9.7 ALB MTHFR
49 pelvic inflammatory disease 9.6 CCL2 TLR4 TLR6
50 acute cystitis 9.6 ALB CCL2

Graphical network of the top 20 diseases related to Ariboflavinosis:



Diseases related to Ariboflavinosis

Symptoms & Phenotypes for Ariboflavinosis

Symptoms:

12
  • red chapped lips

MGI Mouse Phenotypes related to Ariboflavinosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.1 ALB CYB5A EPHA3 F2R MTHFR TLR4

Drugs & Therapeutics for Ariboflavinosis

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

(show all 12)
# 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 Nutrients Not Applicable
4 Vitamin B Complex Not Applicable
5 Vitamin B2 Not Applicable
6 Trace Elements Not Applicable
7 Vitamins Not Applicable
8 Micronutrients Not Applicable
9 Vitamin B9 Not Applicable
10 Folate Not Applicable
11 Dermatologic Agents Not Applicable
12 Photosensitizing Agents 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 Recruiting NCT03151096 Not Applicable

Search NIH Clinical Center for Ariboflavinosis

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: riboflavin deficiency

Genetic Tests for Ariboflavinosis

Genetic tests related to Ariboflavinosis:

# Genetic test Affiliating Genes
1 Vitamin B2 Deficiency 30 SLC52A1

Anatomical Context for Ariboflavinosis

MalaCards organs/tissues related to Ariboflavinosis:

42
Liver, Tongue, Skin, Testes, Adipocyte

Publications for Ariboflavinosis

Articles related to Ariboflavinosis:

(show all 41)
# Title Authors Year
1
Vitamin B2 deficiency enhances the pro-inflammatory activity of adipocyte, consequences for insulin resistance and metabolic syndrome development. ( 28414075 )
2017
2
Soyamilk fermented with riboflavin-producing Lactobacillus plantarum CRL 2130 reverts and prevents ariboflavinosis in murine models. ( 27641762 )
2016
3
Riboflavin (vitamin B2 ) deficiency impairs NADPH oxidase 2 (Nox2) priming and defense against Listeria monocytogenes. ( 24272050 )
2014
4
Methazid-induced vitamin B2 deficiency in rats and its prevention. ( 8867318 )
1995
5
[Metazid-inducible vitamin B2 deficiency in rats and its prevention]. ( 8111300 )
1993
6
Effect of vitamin B2 deficiency on rat liver dihydropyrimidine dehydrogenase activity. ( 1880634 )
1991
7
Influence of vitamin B2 deficiency on polychlorinated biphenyls-induced liver lipid peroxides formation in rats. ( 2276883 )
1990
8
Biochemical ariboflavinosis among Nigerian rural school children. ( 6511484 )
1984
9
Nutritional and ariboflavinosis-curing effects of riboflavin-5'-monobutyrate and monopalmitate. ( 7363382 )
1980
10
Influence of glucose-6-phosphate dehydrogenase deficiency on the glutathione reductase test for ariboflavinosis. ( 4656452 )
1972
11
Angular stomatitis and biochemical ariboflavinosis in village pre-school children in Northeast Thailand. ( 5136715 )
1971
12
Physiological implications of reduced glutathione reductase activity of red blood cells in human ariboflavinosis. ( 4396781 )
1971
13
Ocular lesions induced by vitamin B2 deficiency. ( 5547736 )
1971
14
Ariboflavinosis keratopathy. ( 5353175 )
1969
15
Frequency analysis of electroencephalograms and latency of photically induced average evoked responses in children with ariboflavinosis (preliminary report). ( 5671796 )
1968
16
Malabsorption of vitamin B12 in ariboflavinosis due to defective vitamin B12-binding power of gastric mucosa. ( 5832642 )
1965
17
STUDIES ON FATTY ACID ESTERS OF FLAVINS. III. NUTRITIONAL AND ARIBOFLAVINOSIS-CURING EFFECTS. ( 14066704 )
1963
18
Salivary lysozyme: its relation to angular stomatitis in ariboflavinosis. ( 14482941 )
1961
19
Salivary lysozyme: its relation to angular stomatitis in ariboflavinosis. II. Lytic action of lysozyme upon Micrococcus lysodeikticus cultured with or without riboflavin. ( 14482940 )
1961
20
Observations on ariboflavinosis and kwashiorkor in Sicily. ( 13704534 )
1960
21
Reversible chronic recurrent keratitis with vascularization due to ariboflavinosis. ( 14381853 )
1955
22
Relation of protein and fat intake to growth and corneal vascularization in galactoflavin-produced ariboflavinosis. ( 13143446 )
1954
23
Effect of vitamin B2 deficiency on the toxicity of strychnine. ( 13058510 )
1953
24
A peculiar ocular manifestation of ariboflavinosis. ( 12990190 )
1952
25
Endemic occurrence of ariboflavinosis and pellagra; clinical observations of so-called Shibi or Gatchaki in Tsugaru district. ( 14922404 )
1951
26
Epithelial changes in human ariboflavinosis; a histological study. ( 14783800 )
1950
27
Correlation of urinary excretion of riboflavin with dietary intake and symptoms of ariboflavinosis. ( 15422413 )
1950
28
Ariboflavinosis; with case report on parenchymatous keratitis following riboflavin deficiency. ( 15391867 )
1949
29
Angular blepharitis in ariboflavinosis, a not well known clinical manifestation of riboflavin deficiency. ( 18914530 )
1948
30
Eczematous keratitis and ariboflavinosis. ( 18103821 )
1948
31
Flare-up of trachomatous pannus due to ariboflavinosis. ( 18874336 )
1948
32
Relation between SjAPgren's disease, the Plummer-Vinson syndrome, and ariboflavinosis. ( 20250971 )
1947
33
Kwashiorkor and ariboflavinosis. ( 21028608 )
1946
34
Shark-skin (ariboflavinosis?). ( 21066697 )
1946
35
A New Manifestation of Ariboflavinosis. Lesions of the Vulva. ( 29015842 )
1945
36
Problems of Ariboflavinosis. ( 20785569 )
1944
37
The Ariboflavinosis Syndrome. ( 20784950 )
1943
38
Parenchymatous Keratitis Following Riboflavin (Vitamin B2) Deficiency. ( 29012266 )
1943
39
Ariboflavinosis. ( 20784221 )
1942
40
Possible Ariboflavinosis in a Premature Infant. ( 21434024 )
1942
41
Clinical Manifestations of Ariboflavinosis. ( 18015415 )
1941

Variations for Ariboflavinosis

ClinVar genetic disease variations for Ariboflavinosis:

6 (show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC52A1 deletion Pathogenic
2 SLC52A1 SLC52A1, 1.9-KB DEL 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
8 SLC52A1 NM_017986.3(SLC52A1): c.1240G> A (p.Ala414Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 5033064: 5033064
9 SLC52A1 NM_017986.3(SLC52A1): c.1240G> A (p.Ala414Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 4936359: 4936359
10 SLC52A1 NM_017986.3(SLC52A1): c.1321G> C (p.Asp441His) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 4936278: 4936278
11 SLC52A1 NM_017986.3(SLC52A1): c.1321G> C (p.Asp441His) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 5032983: 5032983

Expression for Ariboflavinosis

Search GEO for disease gene expression data for Ariboflavinosis.

Pathways for Ariboflavinosis

Pathways related to Ariboflavinosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 CYB5A MTHFR RBP4 SLC52A1
2 11.66 EPHA3 GSR HSPA1A
3
Show member pathways
11.46 BMX CCL2 F2R TLR4 TLR6
4
Show member pathways
11.43 HMGB1 TLR4 TLR6
5
Show member pathways
11.26 ALB CCL2 GSR MTHFR
6 10.91 CCL2 TLR4
7 10.77 CCL2 F2R

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 9.5 ALB CCL2 EPHA3 F2R HMGB1 HSPA1A
2 early endosome GO:0005769 8.8 EPHA3 F2R TLR4

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.79 F2R TLR4 TLR6
2 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.73 HSPA1A TLR4 TLR6
3 inflammatory response GO:0006954 9.72 CCL2 F2R HMGB1 TLR4 TLR6
4 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.64 TLR4 TLR6
5 cellular response to amyloid-beta GO:1904646 9.63 TLR4 TLR6
6 negative regulation of interferon-gamma production GO:0032689 9.63 HMGB1 TLR4
7 positive regulation of interleukin-1 beta secretion GO:0050718 9.62 HMGB1 TLR4
8 positive regulation of interleukin-8 production GO:0032757 9.61 HSPA1A TLR4
9 positive regulation of interleukin-12 production GO:0032735 9.6 HMGB1 TLR4
10 positive regulation of interleukin-6 secretion GO:2000778 9.59 F2R HMGB1
11 positive regulation of interleukin-10 production GO:0032733 9.58 HMGB1 TLR4
12 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.58 TLR4 TLR6
13 activation of innate immune response GO:0002218 9.57 HMGB1 TLR4
14 positive regulation of MAPK cascade GO:0043410 9.55 F2R HMGB1
15 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.54 TLR4 TLR6
16 positive regulation of macrophage activation GO:0043032 9.52 TLR4 TLR6
17 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.51 CCL2 TLR4
18 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.49 TLR4 TLR6
19 regulation of cytokine secretion GO:0050707 9.46 TLR4 TLR6
20 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.43 TLR4 TLR6
21 interleukin-1 beta secretion GO:0050702 9.4 TLR4 TLR6
22 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.37 TLR4 TLR6
23 positive regulation of interferon-beta production GO:0032728 9.3 TLR4
24 positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070434 9.26 HSPA1A TLR4
25 positive regulation of interferon-alpha production GO:0032727 9.18 TLR4
26 positive regulation of oxidative stress-induced neuron death GO:1903223 9.16 TLR4 TLR6
27 toll-like receptor signaling pathway GO:0002224 9.13 HMGB1 TLR4 TLR6
28 positive regulation of ERK1 and ERK2 cascade GO:0070374 8.92 CCL2 F2R HMGB1 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 CCL2 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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