RBFVD
MCID: RBF001
MIFTS: 46

Riboflavin Deficiency (RBFVD)

Categories: Genetic diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Riboflavin Deficiency

MalaCards integrated aliases for Riboflavin Deficiency:

Name: Riboflavin Deficiency 57 74 13 55 40 72 33
Rbfvd 57 74
Maternal Riboflavin Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
maternal riboflavin deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
one family has been reported (last curated january 2013)
mutation carrier is clinically asymptomatic
offspring of mutation carrier may show clinical signs of secondary riboflavin deficiency in the neonatal period
riboflavin supplementation normalizes any clinical or biochemical changes


HPO:

32
riboflavin deficiency:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

OMIM 57 615026
MeSH 44 D012257
ICD10 33 E53.0
ICD10 via Orphanet 34 P00.4
Orphanet 59 ORPHA411712
MedGen 42 C0035528
UMLS 72 C0035528

Summaries for Riboflavin Deficiency

UniProtKB/Swiss-Prot : 74 Riboflavin deficiency: A disorder caused by a primary defect in riboflavin metabolism, or by dietary riboflavin deficiency. Riboflavin deficiency during pregnancy results in hypoglycemia, metabolic acidosis, dicarboxylic aciduria and elevated plasma acylcarnitine levels in the newborn. Treatment with oral riboflavin results in complete resolution of the clinical and biochemical findings.

MalaCards based summary : Riboflavin Deficiency, also known as rbfvd, is related to ariboflavinosis and multiple acyl-coa dehydrogenase deficiency. An important gene associated with Riboflavin Deficiency is SLC52A1 (Solute Carrier Family 52 Member 1), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Folic acid and Riboflavin have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and skin, and related phenotypes are hypoglycemia and metabolic acidosis

Wikipedia : 75 Riboflavin, also known as vitamin B2, is a vitamin found in food and used as a dietary supplement. Food... more...

More information from OMIM: 615026

Related Diseases for Riboflavin Deficiency

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 ariboflavinosis 33.9 SLC52A1 MTHFR GSR
2 multiple acyl-coa dehydrogenase deficiency 28.8 SLC52A1 FLAD1 ETFDH ETFA ACADS
3 madras motor neuron disease 10.3 SLC52A3 SLC52A1
4 mastoiditis 10.3 MTHFR CRP
5 cataract 10.3
6 neuropathy 10.3
7 ischemic neuropathy 10.2 MTHFR CRP
8 testicular infarct 10.2 MTHFR CRP
9 peripheral nervous system disease 10.2
10 lemierre's syndrome 10.2 MTHFR CRP
11 diverticulitis 10.2 CRP ACADS
12 carotid artery dissection 10.2 MTHFR ACADS
13 kwashiorkor 10.2
14 arteritic anterior ischemic optic neuropathy 10.1 MTHFR CRP
15 prediabetes syndrome 10.1 CRP APOB
16 papillomatosis, confluent and reticulated 10.0
17 marasmus 10.0
18 stomatitis 10.0
19 hypoglycemia 10.0
20 riboflavin transporter deficiency neuronopathy 10.0
21 brown-vialetto-van laere syndrome 10.0 SLC52A3 SLC52A1 FLAD1
22 alcohol dependence 10.0
23 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.0
24 keratitis, hereditary 10.0
25 malaria 10.0
26 deficiency anemia 10.0
27 keratomalacia 10.0
28 dysentery 10.0
29 hypothyroidism 10.0
30 bilirubin metabolic disorder 10.0
31 fatty liver disease 10.0
32 acyl-coa dehydrogenase deficiency 10.0
33 peripheral artery disease 10.0 CRP APOB
34 inherited metabolic disorder 9.9 MTHFR CRP APOB
35 coronary heart disease 1 9.9 MTHFR CRP APOB
36 cerebrovascular disease 9.9 MTHFR CRP APOB
37 carotid stenosis 9.9 MTHFR CRP
38 vascular disease 9.9 MTHFR CRP APOB
39 stroke, ischemic 9.8 MTHFR CRP APOB
40 cleft palate, isolated 9.8
41 esophageal cancer 9.8
42 fibrosis of extraocular muscles, congenital, 1 9.8
43 down syndrome 9.8
44 acyl-coa dehydrogenase, short-chain, deficiency of 9.8
45 cystic fibrosis 9.8
46 galactokinase deficiency 9.8
47 carbonic anhydrase va deficiency, hyperammonemia due to 9.8
48 epidemic typhus 9.8
49 endemic typhus 9.8
50 rheumatic heart disease 9.8

Graphical network of the top 20 diseases related to Riboflavin Deficiency:



Diseases related to Riboflavin Deficiency

Symptoms & Phenotypes for Riboflavin Deficiency

Human phenotypes related to Riboflavin Deficiency:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypoglycemia 32 HP:0001943
2 metabolic acidosis 32 HP:0001942
3 poor suck 32 HP:0002033
4 dicarboxylic aciduria 32 HP:0003215
5 elevated plasma acylcarnitine levels 32 HP:0045045
6 low levels of vitamin b2 32 HP:0100504

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
increased plasma acylcarnitine levels (if untreated)

Clinical features from OMIM:

615026

Drugs & Therapeutics for Riboflavin Deficiency

Drugs for Riboflavin Deficiency (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 Riboflavin Deficiency

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


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

Genetic Tests for Riboflavin Deficiency

Anatomical Context for Riboflavin Deficiency

MalaCards organs/tissues related to Riboflavin Deficiency:

41
Liver, Testes, Skin, Heart, Kidney, Small Intestine, Eye

Publications for Riboflavin Deficiency

Articles related to Riboflavin Deficiency:

(show top 50) (show all 494)
# Title Authors PMID Year
1
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. 38 8 71
29122468 2017
2
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. 38 8 71
21089064 2011
3
Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. 38 8 71
17689999 2007
4
Riboflavin deficiency causes protein and DNA damage in HepG2 cells, triggering arrest in G1 phase of the cell cycle. 9 38
16109485 2006
5
Methylenetetrahydrofolate reductase C677T polymorphism, folic acid and riboflavin are important determinants of genome stability in cultured human lymphocytes. 9 38
14704292 2004
6
Glutathione reductase deficiency in Saudi Arabia. 9 38
11924113 1999
7
Morphologic, biochemical, and cytogenetic studies of bone marrow and circulating blood cells in painters exposed to ethylene glycol ethers. 9 38
1425515 1992
8
Enzymatic evaluation of riboflavin status of infants. 9 38
1915204 1991
9
Age-related changes of glutathione content, glutathione reductase and glutathione peroxidase activity of human erythrocytes. 9 38
1823259 1991
10
Riboflavin deficiency affects lipid metabolism partly by reducing apolipoprotein B100 synthesis in rats. 38
31176989 2019
11
Suboptimal Biochemical Riboflavin Status Is Associated with Lower Hemoglobin and Higher Rates of Anemia in a Sample of Canadian and Malaysian Women of Reproductive Age. 38
31318024 2019
12
Impact and consequences of dietary riboflavin deficiency treatment on flesh quality loss in on-growing grass carp (Ctenopharyngodon idella). 38
31112144 2019
13
Maternal diet deficient in riboflavin induces embryonic death associated with alterations in the hepatic proteome of duck embryos. 38
30918526 2019
14
Malnutrition and skin disease in Far East prisoners-of-war in World War II. 38
29855062 2018
15
Riboflavin Depletion Promotes Tumorigenesis in HEK293T and NIH3T3 Cells by Sustaining Cell Proliferation and Regulating Cell Cycle-Related Gene Transcription. 38
29741716 2018
16
Transcriptional profiling of liver in riboflavin-deficient chicken embryos explains impaired lipid utilization, energy depletion, massive hemorrhaging, and delayed feathering. 38
29506485 2018
17
Adaptive regulation of riboflavin transport in heart: effect of dietary riboflavin deficiency in cardiovascular pathogenesis. 38
28836047 2018
18
Riboflavin in Human Health: A Review of Current Evidences. 38
29477226 2018
19
FAD influx enhances neuronal differentiation of human neural stem cells by facilitating nuclear localization of LSD1. 38
29226080 2017
20
Riboflavin and health: A review of recent human research. 38
27029320 2017
21
Severe riboflavin deficiency induces alterations in the hepatic proteome of starter Pekin ducks. 38
29185933 2017
22
Update on riboflavin and multiple sclerosis: a systematic review. 38
29085589 2017
23
Vitamin B2 deficiency enhances the pro-inflammatory activity of adipocyte, consequences for insulin resistance and metabolic syndrome development. 38
28414075 2017
24
Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases. 38
28475111 2017
25
Riboflavin deficiency induces a significant change in proteomic profiles in HepG2 cells. 38
28367977 2017
26
Riboflavin Deficiency in Rats Decreases de novo Formate Production but Does Not Affect Plasma Formate Concentration. 38
28122934 2017
27
Soyamilk fermented with riboflavin-producing Lactobacillus plantarum CRL 2130 reverts and prevents ariboflavinosis in murine models. 38
27641762 2016
28
Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice. 38
27272163 2016
29
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles. 38
26409463 2016
30
Immunomodulatory effect of riboflavin deficiency and enrichment - reversible pathological response versus silencing of inflammatory activation. 38
26769828 2015
31
Intestinal immune function, antioxidant status and tight junction proteins mRNA expression in young grass carp (Ctenopharyngodon idella) fed riboflavin deficient diet. 38
26419312 2015
32
Dietary riboflavin deficiency decreases immunity and antioxidant capacity, and changes tight junction proteins and related signaling molecules mRNA expression in the gills of young grass carp (Ctenopharyngodon idella). 38
25882633 2015
33
Riboflavin Transporter Deficiency Neuronopathy 38
26072523 2015
34
Elevated anthranilic acid plasma concentrations in type 1 but not type 2 diabetes mellitus. 38
26523229 2015
35
Modified-release capsules containing sodium riboflavin 5'-phosphate. 38
24083326 2014
36
Evaluation of riboflavin intakes and status of 20-64-year-old adults in South Korea. 38
25558909 2014
37
Low activity of LSD1 elicits a pro-inflammatory gene expression profile in riboflavin-deficient human T Lymphoma Jurkat cells. 38
25103574 2014
38
Transcriptional regulation of the albumin gene depends on the removal of histone methylation marks by the FAD-dependent monoamine oxidase lysine-specific demethylase 1 in HepG2 human hepatocarcinoma cells. 38
24744315 2014
39
Riboflavin (vitamin B2 ) deficiency impairs NADPH oxidase 2 (Nox2) priming and defense against Listeria monocytogenes. 38
24272050 2014
40
From cholesterogenesis to steroidogenesis: role of riboflavin and flavoenzymes in the biosynthesis of vitamin D. 38
24618756 2014
41
Riboflavin deprivation inhibits macrophage viability and activity - a study on the RAW 264.7 cell line. 38
23415257 2013
42
Riboflavin laurate nanosuspensions as an intramuscular injection for long-term riboflavin supplementation. 38
23583503 2013
43
Supplementary biotin decreases tibial bone weight, density and strength in riboflavin-deficient starter diets for turkey poults. 38
24325327 2013
44
Suspected outbreak of riboflavin deficiency among populations reliant on food assistance: a case study of drought-stricken Karamoja, Uganda, 2009-2010. 38
23658790 2013
45
Riboflavin supplementation to patients with multiple sclerosis does not improve disability status nor is riboflavin supplementation correlated to homocysteine. 38
25305223 2013
46
Association of the plasma and tissue riboflavin levels with C20orf54 expression in cervical lesions and its relationship to HPV16 infection. 38
24260322 2013
47
[The state of the antioxidant status of children of different ages]. 38
24340929 2013
48
The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. 38
23107375 2012
49
Etiology of anemia among infants, school-aged children, and young non-pregnant women in different settings of South-Central Cote d'Ivoire. 38
22848097 2012
50
Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10). 38
22231380 2012

Variations for Riboflavin Deficiency

ClinVar genetic disease variations for Riboflavin Deficiency:

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.928C> T (p.Arg310Cys) single nucleotide variant Uncertain significance rs778417188 17:4936856-4936856 17:5033561-5033561
5 SLC52A1 NM_001104577.1(SLC52A1): c.628G> A (p.Ala210Thr) single nucleotide variant Uncertain significance rs139373407 17:4937156-4937156 17:5033861-5033861
6 SLC52A1 NM_001104577.1(SLC52A1): c.1240G> A (p.Ala414Thr) single nucleotide variant Uncertain significance 17:4936359-4936359 17:5033064-5033064
7 SLC52A1 NM_001104577.1(SLC52A1): c.1321G> C (p.Asp441His) single nucleotide variant Uncertain significance 17:4936278-4936278 17:5032983-5032983
8 SLC52A1 NM_001104577.1(SLC52A1): c.505C> T (p.Arg169Cys) single nucleotide variant Uncertain significance 17:4937279-4937279 17:5033984-5033984
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.950T> C (p.Val317Ala) single nucleotide variant Uncertain significance 17:4936834-4936834 17:5033539-5033539
11 SLC52A1 NM_001104577.1(SLC52A1): c.1062del (p.Tyr355fs) deletion Uncertain significance 17:4936628-4936628 17:5033334-5033334

Expression for Riboflavin Deficiency

Search GEO for disease gene expression data for Riboflavin Deficiency.

Pathways for Riboflavin Deficiency

GO Terms for Riboflavin Deficiency

Cellular components related to Riboflavin Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.02 GSR FLAD1 ETFDH ETFA ACADS

Biological processes related to Riboflavin Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.72 MTHFR GSR ETFDH ETFA ACADS
2 electron transport chain GO:0022900 9.43 GSR ETFDH ETFA
3 riboflavin transport GO:0032218 9.16 SLC52A3 SLC52A1
4 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.13 ETFDH ETFA ACADS
5 riboflavin metabolic process GO:0006771 8.92 SLC52A3 SLC52A1 RFK FLAD1

Molecular functions related to Riboflavin Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.55 MTHFR GSR ETFDH ETFA ACADS
2 electron transfer activity GO:0009055 9.43 GSR ETFDH ETFA
3 NADP binding GO:0050661 9.37 MTHFR GSR
4 low-density lipoprotein particle receptor binding GO:0050750 9.32 CRP APOB
5 flavin adenine dinucleotide binding GO:0050660 9.02 MTHFR GSR ETFDH ETFA ACADS
6 riboflavin transmembrane transporter activity GO:0032217 8.96 SLC52A3 SLC52A1

Sources for Riboflavin Deficiency

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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