RBFVD
MCID: RBF001
MIFTS: 49

Riboflavin Deficiency (RBFVD)

Categories: Genetic diseases, Metabolic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Riboflavin Deficiency

MalaCards integrated aliases for Riboflavin Deficiency:

Name: Riboflavin Deficiency 57 12 73 13 54 44 15 39 71 32
Maternal Riboflavin Deficiency 58 29 6
Rbfvd 57 73
Vitamin B2 Deficiency 12
Ariboflavinosis 12

Characteristics:

Orphanet epidemiological data:

58
maternal riboflavin deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 05-Mar-2021)
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:

31
riboflavin deficiency:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:8454
OMIM® 57 615026
ICD9CM 34 266.0
MeSH 44 D012257
SNOMED-CT 67 20307000
ICD10 32 E53.0
ICD10 via Orphanet 33 P00.4
Orphanet 58 ORPHA411712
MedGen 41 C0035528
UMLS 71 C0035528

Summaries for Riboflavin Deficiency

UniProtKB/Swiss-Prot : 73 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 maternal riboflavin deficiency, is related to acyl-coa dehydrogenase deficiency and acyl-coa dehydrogenase, short-chain, deficiency of, and has symptoms including red chapped lips 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. Affiliated tissues include liver, tongue and skin, and related phenotypes are hypoglycemia and metabolic acidosis

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.

Wikipedia : 74 Riboflavin, also known as vitamin B2, is a vitamin found in food and used as a dietary supplement. It is... 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 109)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase deficiency 30.1 ETFDH ETFA
2 acyl-coa dehydrogenase, short-chain, deficiency of 29.8 ETFDH ETFA ACADS
3 inherited metabolic disorder 29.6 MTHFR CRP APOB
4 fazio-londe disease 29.3 SLC52A3 SLC52A2 SLC52A1 ETFDH ETFA ACADS
5 multiple acyl-coa dehydrogenase deficiency 28.7 SLC52A3 SLC52A2 SLC52A1 RFK FLAD1 ETFDH
6 neuropathy 10.2
7 muscular lipidosis 10.2 ETFDH ACADS
8 reye syndrome 10.2 GSR ETFDH
9 lemierre's syndrome 10.2 MTHFR CRP
10 intracranial sinus thrombosis 10.2 MTHFR CRP
11 glutaric acidemia i 10.2 ETFDH ETFA
12 peripheral nervous system disease 10.2
13 buerger disease 10.2 GSR CRP
14 branch retinal artery occlusion 10.2 MTHFR CRP
15 mastoiditis 10.2 MTHFR CRP
16 central retinal artery occlusion 10.1 MTHFR CRP
17 silent myocardial infarction 10.1 CRP APOB
18 physical urticaria 10.1 ETFA CRP
19 cataract 10.1
20 generalized atherosclerosis 10.1 CRP APOB
21 multiple acyl-coa dehydrogenase deficiency, severe neonatal type 10.1 FLAD1 ETFDH ETFA
22 mild cognitive impairment 10.1 MTHFR CHAT
23 multiple acyl-coa dehydrogenase deficiency, mild type 10.1 FLAD1 ETFDH ETFA
24 brown-vialetto-van laere syndrome 2 10.1 SLC52A3 SLC52A2
25 brown-vialetto-van laere syndrome 1 10.1 SLC52A3 SLC52A2
26 chronic apical periodontitis 10.1 SLC52A3 SLC52A2
27 parametritis 10.1 CRP APOB
28 acyl-coa dehydrogenase, very long-chain, deficiency of 10.1 ETFDH ETFA ACADS
29 carnitine deficiency, systemic primary 10.1 ETFDH ETFA ACADS
30 esophageal cancer 10.1
31 kwashiorkor 10.1
32 stomatitis 10.1
33 encephalomalacia 10.0 MTHFR CRP
34 vitamin metabolic disorder 10.0 PNPO MTHFR
35 syphilis 10.0
36 thrombophlebitis 10.0 MTHFR CRP
37 cerebral atherosclerosis 10.0 MTHFR CRP APOB
38 madras motor neuron disease 10.0 SLC52A3 SLC52A2 SLC52A1
39 hyperuricemia 10.0 MTHFR CRP APOB
40 retinal vascular occlusion 10.0 MTHFR CRP
41 central sleep apnea 10.0 CRP CHAT
42 keratitis, hereditary 10.0
43 papillomatosis, confluent and reticulated 10.0
44 keratomalacia 10.0
45 dysentery 10.0
46 hypothyroidism 10.0
47 bilirubin metabolic disorder 10.0
48 spinocerebellar ataxia, autosomal recessive 3 10.0 SLC52A2 ACADS
49 peripheral vascular disease 10.0 MTHFR CRP APOB
50 chromosome 2q35 duplication syndrome 9.9

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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hypoglycemia 31 HP:0001943
2 metabolic acidosis 31 HP:0001942
3 poor suck 31 HP:0002033
4 dicarboxylic aciduria 31 HP:0003215
5 elevated circulating acylcarnitine concentration 31 HP:0045045
6 low levels of vitamin b2 31 HP:0100504

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Laboratory Abnormalities:
increased plasma acylcarnitine levels (if untreated)

Clinical features from OMIM®:

615026 (Updated 05-Mar-2021)

Symptoms:

12
  • red chapped lips

GenomeRNAi Phenotypes related to Riboflavin Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased POU5F1-GFP protein expression GR00184-A-1 8.92 ACADS ETFDH PNPO SLC52A1

Drugs & Therapeutics for Riboflavin Deficiency

Search Clinical Trials , NIH Clinical Center for Riboflavin Deficiency

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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

Cochrane evidence based reviews: riboflavin deficiency

Genetic Tests for Riboflavin Deficiency

Genetic tests related to Riboflavin Deficiency:

# Genetic test Affiliating Genes
1 Maternal Riboflavin Deficiency 29 SLC52A1

Anatomical Context for Riboflavin Deficiency

MalaCards organs/tissues related to Riboflavin Deficiency:

40
Liver, Tongue, Skin, Heart, Small Intestine, Breast, Eye

Publications for Riboflavin Deficiency

Articles related to Riboflavin Deficiency:

(show top 50) (show all 506)
# Title Authors PMID Year
1
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. 6 57 61
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. 61 57 6
21089064 2011
3
Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. 6 57 61
17689999 2007
4
Riboflavin deficiency causes protein and DNA damage in HepG2 cells, triggering arrest in G1 phase of the cell cycle. 54 61
16109485 2006
5
Methylenetetrahydrofolate reductase C677T polymorphism, folic acid and riboflavin are important determinants of genome stability in cultured human lymphocytes. 54 61
14704292 2004
6
Glutathione reductase deficiency in Saudi Arabia. 61 54
11924113 1999
7
Morphologic, biochemical, and cytogenetic studies of bone marrow and circulating blood cells in painters exposed to ethylene glycol ethers. 61 54
1425515 1992
8
Enzymatic evaluation of riboflavin status of infants. 61 54
1915204 1991
9
Age-related changes of glutathione content, glutathione reductase and glutathione peroxidase activity of human erythrocytes. 61 54
1823259 1991
10
Demand-oriented riboflavin supply of organic broiler using a feed material from fermentation of Ashbya gossypii. 61
33516011 2020
11
Correction: Dietary riboflavin deficiency induces genomic instability of esophageal squamous cells that is associated with gut microbiota dysbiosis in rats. 61
33210681 2020
12
Dietary riboflavin deficiency induces genomic instability of esophageal squamous cells that is associated with gut microbiota dysbiosis in rats. 61
33135706 2020
13
Effect of riboflavin deficiency on development of the cerebral cortex in Slc52a3 knockout mice. 61
33116204 2020
14
Decreased plasma riboflavin is associated with poor prognosis, invasion, and metastasis in esophageal squamous cell carcinoma. 61
32060383 2020
15
Dietary riboflavin deficiency induces ariboflavinosis and esophageal epithelial atrophy in association with modification of gut microbiota in rats. 61
32458157 2020
16
Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism. 61
32481712 2020
17
Effects of a riboflavin source suitable for use in organic broiler diets on performance traits and health indicators. 61
31623698 2020
18
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. 61
31318024 2019
19
Riboflavin Deficiency Alters Cholesterol Homeostasis Partly by Reducing Apolipoprotein B100 Synthesis in HepG2 Cells. 61
31656126 2019
20
Riboflavin deficiency affects lipid metabolism partly by reducing apolipoprotein B100 synthesis in rats. 61
31176989 2019
21
Global Health Implications of Nutrient Changes in Rice Under High Atmospheric Carbon Dioxide. 61
32159041 2019
22
Impact and consequences of dietary riboflavin deficiency treatment on flesh quality loss in on-growing grass carp (Ctenopharyngodon idella). 61
31112144 2019
23
Dietary riboflavin deficiency promotes N-nitrosomethylbenzylamine-induced esophageal tumorigenesis in rats by inducing chronic inflammation. 61
31815047 2019
24
Flavin Imbalance as an Important Player in Diabetic Retinopathy. 61
31884673 2019
25
Maternal diet deficient in riboflavin induces embryonic death associated with alterations in the hepatic proteome of duck embryos. 61
30918526 2019
26
Malnutrition and skin disease in Far East prisoners-of-war in World War II. 61
29855062 2018
27
Riboflavin Depletion Promotes Tumorigenesis in HEK293T and NIH3T3 Cells by Sustaining Cell Proliferation and Regulating Cell Cycle-Related Gene Transcription. 61
29741716 2018
28
Transcriptional profiling of liver in riboflavin-deficient chicken embryos explains impaired lipid utilization, energy depletion, massive hemorrhaging, and delayed feathering. 61
29506485 2018
29
Adaptive regulation of riboflavin transport in heart: effect of dietary riboflavin deficiency in cardiovascular pathogenesis. 61
28836047 2018
30
Riboflavin in Human Health: A Review of Current Evidences. 61
29477226 2018
31
FAD influx enhances neuronal differentiation of human neural stem cells by facilitating nuclear localization of LSD1. 61
29226080 2017
32
Severe riboflavin deficiency induces alterations in the hepatic proteome of starter Pekin ducks. 61
29185933 2017
33
Riboflavin and health: A review of recent human research. 61
27029320 2017
34
Update on riboflavin and multiple sclerosis: a systematic review. 61
29085589 2017
35
Vitamin B2 deficiency enhances the pro-inflammatory activity of adipocyte, consequences for insulin resistance and metabolic syndrome development. 61
28414075 2017
36
Riboflavin Responsive Mitochondrial Dysfunction in Neurodegenerative Diseases. 61
28475111 2017
37
Riboflavin deficiency induces a significant change in proteomic profiles in HepG2 cells. 61
28367977 2017
38
Riboflavin Deficiency in Rats Decreases de novo Formate Production but Does Not Affect Plasma Formate Concentration. 61
28122934 2017
39
Soyamilk fermented with riboflavin-producing Lactobacillus plantarum CRL 2130 reverts and prevents ariboflavinosis in murine models. 61
27641762 2016
40
Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice. 61
27272163 2016
41
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles. 61
26409463 2016
42
Immunomodulatory effect of riboflavin deficiency and enrichment - reversible pathological response versus silencing of inflammatory activation. 61
26769828 2015
43
Intestinal immune function, antioxidant status and tight junction proteins mRNA expression in young grass carp (Ctenopharyngodon idella) fed riboflavin deficient diet. 61
26419312 2015
44
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). 61
25882633 2015
45
Riboflavin Transporter Deficiency Neuronopathy 61
26072523 2015
46
Elevated anthranilic acid plasma concentrations in type 1 but not type 2 diabetes mellitus. 61
26523229 2015
47
Modified-release capsules containing sodium riboflavin 5'-phosphate. 61
24083326 2014
48
Evaluation of riboflavin intakes and status of 20-64-year-old adults in South Korea. 61
25558909 2014
49
Low activity of LSD1 elicits a pro-inflammatory gene expression profile in riboflavin-deficient human T Lymphoma Jurkat cells. 61
25103574 2014
50
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. 61
24744315 2014

Variations for Riboflavin Deficiency

ClinVar genetic disease variations for Riboflavin Deficiency:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC52A1 SLC52A1, 1.9-KB DEL Deletion Pathogenic 39608
2 SLC52A1 Deletion Pathogenic 210044
3 SLC52A1 NM_017986.4(SLC52A1):c.628G>A (p.Ala210Thr) SNV Uncertain significance 527955 rs139373407 17:4937156-4937156 17:5033861-5033861
4 SLC52A1 NM_017986.4(SLC52A1):c.928C>T (p.Arg310Cys) SNV Uncertain significance 527956 rs778417188 17:4936856-4936856 17:5033561-5033561
5 SLC52A1 NM_017986.4(SLC52A1):c.1240G>A (p.Ala414Thr) SNV Uncertain significance 583054 rs142353672 17:4936359-4936359 17:5033064-5033064
6 SLC52A1 NM_017986.4(SLC52A1):c.874G>A (p.Val292Met) SNV Uncertain significance 644808 rs767702906 17:4936910-4936910 17:5033615-5033615
7 SLC52A1 NM_017986.4(SLC52A1):c.505C>T (p.Arg169Cys) SNV Uncertain significance 659118 rs201198708 17:4937279-4937279 17:5033984-5033984
8 SLC52A1 NM_017986.4(SLC52A1):c.1062del (p.Tyr355fs) Deletion Uncertain significance 662101 rs537206157 17:4936628-4936628 17:5033333-5033333
9 SLC52A1 NM_017986.4(SLC52A1):c.950T>C (p.Val317Ala) SNV Uncertain significance 665487 rs1004440864 17:4936834-4936834 17:5033539-5033539
10 SLC52A1 NM_017986.4(SLC52A1):c.1229C>A (p.Ala410Glu) SNV Uncertain significance 841357 17:4936370-4936370 17:5033075-5033075
11 SLC52A1 NM_017986.4(SLC52A1):c.1014C>A (p.Ser338=) SNV Uncertain significance 842788 17:4936676-4936676 17:5033381-5033381
12 SLC52A1 NM_017986.4(SLC52A1):c.702A>T (p.Gln234His) SNV Uncertain significance 850064 17:4937082-4937082 17:5033787-5033787
13 SLC52A1 NM_017986.4(SLC52A1):c.921C>G (p.Pro307=) SNV Uncertain significance 853779 17:4936863-4936863 17:5033568-5033568
14 SLC52A1 NM_017986.4(SLC52A1):c.1337G>A (p.Cys446Tyr) SNV Uncertain significance 864587 17:4936262-4936262 17:5032967-5032967
15 SLC52A1 NM_017986.4(SLC52A1):c.1000G>A (p.Val334Met) SNV Uncertain significance 808203 rs150164483 17:4936784-4936784 17:5033489-5033489
16 SLC52A1 NM_017986.4(SLC52A1):c.287C>T (p.Ala96Val) SNV Uncertain significance 946353 17:4937497-4937497 17:5034202-5034202
17 SLC52A1 NM_017986.4(SLC52A1):c.565G>C (p.Glu189Gln) SNV Uncertain significance 953282 17:4937219-4937219 17:5033924-5033924
18 SLC52A1 NM_017986.4(SLC52A1):c.434G>A (p.Arg145Gln) SNV Uncertain significance 962341 17:4937350-4937350 17:5034055-5034055
19 SLC52A1 NM_017986.4(SLC52A1):c.63G>A (p.Met21Ile) SNV Uncertain significance 970405 17:4937839-4937839 17:5034544-5034544
20 SLC52A1 NM_017986.4(SLC52A1):c.240C>T (p.Pro80=) SNV Likely benign 726559 rs775262570 17:4937544-4937544 17:5034249-5034249
21 SLC52A1 NM_017986.4(SLC52A1):c.167C>T (p.Ala56Val) SNV Likely benign 791751 rs138410039 17:4937617-4937617 17:5034322-5034322
22 SLC52A1 NM_017986.4(SLC52A1):c.936C>T (p.Ala312=) SNV Likely benign 799824 rs767093536 17:4936848-4936848 17:5033553-5033553
23 SLC52A1 NM_017986.4(SLC52A1):c.1321G>C (p.Asp441His) SNV Likely benign 574646 rs148979394 17:4936278-4936278 17:5032983-5032983
24 SLC52A1 NM_017986.4(SLC52A1):c.1134+11G>A SNV Benign 488359 rs141935493 17:4936545-4936545 17:5033250-5033250
25 SLC52A1 NM_017986.4(SLC52A1):c.510C>T (p.Leu170=) SNV Benign 711184 rs144716094 17:4937274-4937274 17:5033979-5033979
26 SLC52A1 NM_017986.4(SLC52A1):c.1010+10_1010+19del Deletion Benign 777112 rs553728943 17:4936755-4936764 17:5033460-5033469
27 SLC52A1 NM_017986.4(SLC52A1):c.929G>A (p.Arg310His) SNV Benign 785949 rs9897165 17:4936855-4936855 17:5033560-5033560
28 SLC52A1 NM_017986.4(SLC52A1):c.371C>T (p.Ala124Val) SNV Benign 377104 rs146289149 17:4937413-4937413 17:5034118-5034118

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 9.8 PNPO MTHFR GSR ETFDH ETFA CYB5RL
2 electron transport chain GO:0022900 9.5 GSR ETFDH ETFA
3 respiratory electron transport chain GO:0022904 9.37 ETFDH ETFA
4 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.33 ETFDH ETFA ACADS
5 riboflavin transport GO:0032218 9.13 SLC52A3 SLC52A2 SLC52A1
6 riboflavin metabolic process GO:0006771 9.02 SLC52A3 SLC52A2 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 9.7 PNPO MTHFR GSR ETFDH ETFA CYB5RL
2 electron transfer activity GO:0009055 9.43 GSR ETFDH ETFA
3 low-density lipoprotein particle receptor binding GO:0050750 9.32 CRP APOB
4 riboflavin transmembrane transporter activity GO:0032217 9.13 SLC52A3 SLC52A2 SLC52A1
5 flavin adenine dinucleotide binding GO:0050660 9.02 MTHFR GSR ETFDH ETFA ACADS

Sources for Riboflavin Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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