Aliases & Classifications for Ariboflavinosis

MalaCards integrated aliases for Ariboflavinosis:

Name: Ariboflavinosis 12 15
Vitamin B2 Deficiency 12 29 6
Riboflavin Deficiency 44 72

Classifications:



External Ids:

Disease Ontology 12 DOID:8454
ICD9CM 35 266.0
MeSH 44 D012257
SNOMED-CT 68 20307000
ICD10 33 E53.0
UMLS 72 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 keratitis, hereditary, 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 Phagosome. The drugs Folic acid and Riboflavin have been mentioned in the context of this disorder. Affiliated tissues include liver, tongue and skin, and related phenotype is liver/biliary system.

Wikipedia : 75 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 84)
# Related Disease Score Top Affiliating Genes
1 riboflavin deficiency 30.6 SLC52A1 MTHFR GSR
2 keratitis, hereditary 10.3
3 stomatitis 10.3
4 cataract 10.3
5 neuropathy 10.3
6 kwashiorkor 10.2
7 syphilis 10.2
8 diabetes mellitus 10.2
9 peripheral nervous system disease 10.2
10 coproporphyria, hereditary 10.1
11 patterson pseudoleprechaunism syndrome 10.1
12 rickets 10.1
13 keratopathy 10.1
14 macrocytic anemia 10.1
15 dermatitis 10.1
16 carbohydrate metabolic disorder 10.1
17 liver cirrhosis 10.1
18 pellagra 10.1
19 seborrheic dermatitis 10.1
20 rosacea 10.1
21 blepharitis 10.1
22 plummer vinson syndrome 10.1
23 papillomatosis, confluent and reticulated 10.0
24 multiple acyl-coa dehydrogenase deficiency 10.0
25 marasmus 10.0
26 hypoglycemia 10.0
27 riboflavin transporter deficiency neuronopathy 10.0
28 penicilliosis 10.0 TLR6 TLR4
29 alcohol dependence 10.0
30 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.0
31 malaria 10.0
32 deficiency anemia 10.0
33 keratomalacia 10.0
34 dysentery 10.0
35 hypothyroidism 10.0
36 bilirubin metabolic disorder 10.0
37 fatty liver disease 10.0
38 acyl-coa dehydrogenase deficiency 10.0
39 chromosome 2q35 duplication syndrome 9.9
40 listeriosis 9.9
41 crohn's disease 9.9
42 fetal erythroblastosis 9.9 TFRC ALB
43 gastric cardia carcinoma 9.8 TLR4 MTHFR
44 cleft palate, isolated 9.8
45 esophageal cancer 9.8
46 fibrosis of extraocular muscles, congenital, 1 9.8
47 down syndrome 9.8
48 acyl-coa dehydrogenase, short-chain, deficiency of 9.8
49 cystic fibrosis 9.8
50 galactokinase deficiency 9.8

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.17 ALB CYB5A EPHA3 F2R MTHFR TFRC

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
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
2
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved 83-88-5 493570
3 Trace Elements
4 Micronutrients
5 Vitamins
6 Vitamin B9
7 Folate
8 Nutrients
9 Vitamin B Complex
10 Dermatologic Agents
11 Vitamin B2
12 Photosensitizing Agents

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 Active, not recruiting NCT03151096

Search NIH Clinical Center for Ariboflavinosis

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Riboflavin
Riboflavin
riboflavin 5'-phosphate
riboflavin 5'-phosphate sodium

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
Liver, Tongue, Skin, Pancreas, Kidney, Small Intestine, Adipocyte

Publications for Ariboflavinosis

Articles related to Ariboflavinosis:

(show top 50) (show all 117)
# Title Authors PMID Year
1
Malnutrition and skin disease in Far East prisoners-of-war in World War II. 38
29855062 2018
2
[Vitamin status of adult population of the Russian Federation: 1987-2017]. 38
30570959 2018
3
Vitamin B2 deficiency enhances the pro-inflammatory activity of adipocyte, consequences for insulin resistance and metabolic syndrome development. 38
28414075 2017
4
Micronutrient-Fortified Milk and Academic  Performance among Chinese Middle School Students:  A Cluster-Randomized Controlled Trial. 38
28257107 2017
5
Soyamilk fermented with riboflavin-producing Lactobacillus plantarum CRL 2130 reverts and prevents ariboflavinosis in murine models. 38
27641762 2016
6
The effects of regular consumption of a multiple micronutrient fortified milk beverage on the micronutrient status of school children and on their mental and physical performance. 38
25746819 2016
7
Immunomodulatory effect of riboflavin deficiency and enrichment - reversible pathological response versus silencing of inflammatory activation. 38
26769828 2015
8
Riboflavin (vitamin B2 ) deficiency impairs NADPH oxidase 2 (Nox2) priming and defense against Listeria monocytogenes. 38
24272050 2014
9
Assessment of intake and nutritional status of vitamin b1, b2, and b6 in men and women with different physical activity levels. 38
24744477 2013
10
[The study on the relationship between serum folic acid and vitamin B2 levels and esophageal cancer]. 38
23805525 2013
11
Suspected outbreak of riboflavin deficiency among populations reliant on food assistance: a case study of drought-stricken Karamoja, Uganda, 2009-2010. 38
23658790 2013
12
[Vitamin and mineral status of oarsmen during the training-competition cycles]. 38
24340936 2013
13
[Vitamin-antioxidant sufficiency of winter sports athletes]. 38
24741956 2013
14
[Does 5-methyltetrahydrofolate offer any advantage over folic acid?]. 38
23350208 2012
15
Erythrocyte pyridoxamine phosphate oxidase activity: a potential biomarker of riboflavin status? 38
19740970 2009
16
Selective vulnerability of peripheral nerves in avian riboflavin deficiency demyelinating polyneuropathy. 38
19112122 2009
17
[Efficiency of diet therapy containing carbohydrate-protein product enriched with vitamins and minerals in patients with cardiovascular diseases, obesity, and osteopenia]. 38
19227864 2008
18
Fifty-five-year personal experience with human nutrition worldwide. 38
17506667 2007
19
A novel dairy product fermented with Propionibacterium freudenreichii improves the riboflavin status of deficient rats. 38
16533593 2006
20
Ingestion of milk fermented by genetically modified Lactococcus lactis improves the riboflavin status of deficient rats. 38
16162516 2005
21
Lactococcus lactis is capable of improving the riboflavin status in deficient rats. 38
16115361 2005
22
Highly purified vitamin B2 presents a promising therapeutic strategy for sepsis and septic shock. 38
14977995 2004
23
B vitamins, vitamin C and hematological measurements in overweight and obese Thais in Bangkok. 38
12075716 2002
24
[Dietary and biochemical riboflavin status in a cohort of young people in the community of Madrid]. 38
11475682 2001
25
Methazid-induced vitamin B2 deficiency in rats and its prevention. 38
8867318 1995
26
Vitamin B1, B2 and B6 during the course of pregnancy of rural and urban women in northeast Thailand. 38
7591529 1995
27
[Comparative biochemical evaluation of riboflavin body status]. 38
7732679 1994
28
[Metazid-inducible vitamin B2 deficiency in rats and its prevention]. 38
8111300 1993
29
[The use of preparations of methazid combined with riboflavin and pyridoxine for the correction of methazid-induced metabolic disorders of the B-group vitamins in rats]. 38
8290532 1993
30
[Comparison of biochemical criteria for supplying the human body with riboflavin]. 38
1759408 1991
31
Urinary riboflavin and its metabolites: effects of riboflavin supplementation in healthy residents of rural Georgia (USA). 38
1915203 1991
32
Effect of vitamin B2 deficiency on rat liver dihydropyrimidine dehydrogenase activity. 38
1880634 1991
33
Nutritional status of low socioeconomic school children at Srakaew Temple, Ang Thong. 38
1902867 1991
34
Influence of vitamin B2 deficiency on polychlorinated biphenyls-induced liver lipid peroxides formation in rats. 38
2276883 1990
35
An investigation into the riboflavin status of young Egyptians from the oasis with glucose-6-phosphate dehydrogenase deficiency. 38
2768849 1989
36
[Relationship between the character of pathological changes in the esophageal mucosa and deficiency of several vitamins in a population with high incidence of esophageal cancer]. 38
2529705 1989
37
[Metabolism of 25-hydroxyvitamin D3 in the kidney and nuclear receptors of 1,25-dihydroxyvitamin D3 in small intestine mucosa of rats with vitamin B2 deficiency]. 38
2833032 1987
38
[The effect of flavin adenine dinucleotide (FAD) on the vitamin B2 deficiency caused by antibiotics treatment]. 38
3611907 1987
39
Biochemical ariboflavinosis among Nigerian rural school children. 38
6511484 1984
40
Effect of riboflavin supplementation on riboflavin nutriture of a secondary school population in Nigeria. 38
6711480 1984
41
Riboflavin, vitamin A and zinc status in Chinese subjects in a high-risk area for oesophageal cancer in China. 38
7174357 1982
42
Milk, cellular equilibrium and nutritional evolution. 38
7319729 1981
43
[A case of palpebral ariboflavinosis]. 38
6783331 1980
44
[Effects of vitamin B2-deficiency and B2-butyrate feeding on rat liver microsomes (author's transl)]. 38
7293694 1980
45
Nutritional and ariboflavinosis-curing effects of riboflavin-5'-monobutyrate and monopalmitate. 38
7363382 1980
46
[Vitamin B2 deficiency and total parenteral nutrition]. 38
115441 1979
47
Effect of riboflavin deficiency on the 32P turnover in the macromolecular phosphate compounds of the rat lens. 38
591204 1977
48
Socio-economic, health and nutritional status of the villagers in the Nong Wai irrigation area, Khon Kaen, Northeast Thailand. 38
1030856 1976
49
Relationship between hepatic mitochondrial oxidative metabolism and morphology during riboflavin deficiency and recovery in mice. 38
1245893 1976
50
Electron microscopic study on the lens of riboflavin-deficient albino rat. 38
1225943 1975

Variations for Ariboflavinosis

ClinVar genetic disease variations for Ariboflavinosis:

6 (show all 11)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SLC52A1 SLC52A1, 1.9-KB DEL deletion Pathogenic
2 SLC52A1 deletion Pathogenic
3 SLC52A1 NM_001104577.1(SLC52A1): c.1134+11G> A single nucleotide variant Pathogenic rs141935493 17:4936545-4936545 17:5033250-5033250
4 SLC52A1 NM_001104577.1(SLC52A1): c.628G> A (p.Ala210Thr) single nucleotide variant Uncertain significance rs139373407 17:4937156-4937156 17:5033861-5033861
5 SLC52A1 NM_001104577.1(SLC52A1): c.1240G> A (p.Ala414Thr) single nucleotide variant Uncertain significance 17:4936359-4936359 17:5033064-5033064
6 SLC52A1 NM_001104577.1(SLC52A1): c.1321G> C (p.Asp441His) single nucleotide variant Uncertain significance 17:4936278-4936278 17:5032983-5032983
7 SLC52A1 NM_001104577.1(SLC52A1): c.1062del (p.Tyr355fs) deletion Uncertain significance 17:4936628-4936628 17:5033334-5033334
8 SLC52A1 NM_001104577.1(SLC52A1): c.950T> C (p.Val317Ala) single nucleotide variant Uncertain significance 17:4936834-4936834 17:5033539-5033539
9 SLC52A1 NM_001104577.1(SLC52A1): c.874G> A (p.Val292Met) single nucleotide variant Uncertain significance 17:4936910-4936910 17:5033615-5033615
10 SLC52A1 NM_001104577.1(SLC52A1): c.505C> T (p.Arg169Cys) single nucleotide variant Uncertain significance 17:4937279-4937279 17:5033984-5033984
11 SLC52A1 NM_001104577.1(SLC52A1): c.928C> T (p.Arg310Cys) single nucleotide variant Uncertain significance rs778417188 17:4936856-4936856 17:5033561-5033561

Expression for Ariboflavinosis

Search GEO for disease gene expression data 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 integral component of plasma membrane GO:0005887 9.43 TLR6 TLR4 TFRC SLC52A1 F2R EPHA3
2 blood microparticle GO:0072562 9.33 TFRC HSPA1A ALB
3 early endosome GO:0005769 8.92 TLR4 TFRC F2R EPHA3

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 TLR6 TLR4 HMGB1 F2R
2 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.8 TLR6 TLR4 F2R
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.73 TLR6 TLR4 HSPA1A
4 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.64 TLR6 TLR4
5 cellular response to amyloid-beta GO:1904646 9.63 TLR6 TLR4
6 positive regulation of interleukin-1 beta secretion GO:0050718 9.62 TLR4 HMGB1
7 negative regulation of interferon-gamma production GO:0032689 9.62 TLR4 HMGB1
8 positive regulation of interleukin-8 production GO:0032757 9.61 TLR4 HSPA1A
9 viral entry into host cell GO:0046718 9.61 TFRC SLC52A1 HSPA1A
10 positive regulation of interleukin-6 secretion GO:2000778 9.6 HMGB1 F2R
11 positive regulation of interleukin-12 production GO:0032735 9.59 TLR4 HMGB1
12 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.58 TLR6 TLR4
13 positive regulation of interleukin-10 production GO:0032733 9.58 TLR4 HMGB1
14 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.58 TLR4 HMGB1 F2R
15 activation of innate immune response GO:0002218 9.57 TLR4 HMGB1
16 positive regulation of MAPK cascade GO:0043410 9.55 HMGB1 F2R
17 positive regulation of macrophage activation GO:0043032 9.52 TLR6 TLR4
18 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.51 TLR6 TLR4
19 positive regulation of reactive oxygen species biosynthetic process GO:1903428 9.49 TLR6 TLR4
20 interleukin-1 beta secretion GO:0050702 9.37 TLR6 TLR4
21 toll-like receptor signaling pathway GO:0002224 9.33 TLR6 TLR4 HMGB1
22 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.32 TLR6 TLR4
23 positive regulation of interferon-beta production GO:0032728 9.3 TLR4
24 positive regulation of NLRP3 inflammasome complex assembly GO:1900227 9.26 TLR6 TLR4
25 regulation of cytokine secretion GO:0050707 9.18 TLR6
26 positive regulation of interferon-alpha production GO:0032727 9.16 TLR4
27 positive regulation of oxidative stress-induced neuron death GO:1903223 8.96 TLR6 TLR4
28 positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070434 8.62 TLR4 HSPA1A

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.26 TLR6 TLR4 HSPA1A F2R
2 lipopolysaccharide binding GO:0001530 9.16 TLR4 HMGB1
3 virus receptor activity GO:0001618 8.8 TFRC SLC52A1 HSPA1A

Sources for Ariboflavinosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
40 LOVD
42 MedGen
44 MeSH
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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