RBFVD
MCID: RBF001
MIFTS: 45

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 75 13 55 40 73
Rbfvd 57 75
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
Orphanet 59 ORPHA411712
ICD10 via Orphanet 34 P00.4
MedGen 42 C0035528
MeSH 44 D012257
ICD10 33 E53.0
UMLS 73 C0035528

Summaries for Riboflavin Deficiency

UniProtKB/Swiss-Prot : 75 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, heart and skin, and related phenotypes are hypoglycemia and metabolic acidosis

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

Description from OMIM: 615026

Related Diseases for Riboflavin Deficiency

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

(show all 50)
# Related Disease Score Top Affiliating Genes
1 ariboflavinosis 33.4 GSR MTHFR SLC52A1
2 multiple acyl-coa dehydrogenase deficiency 29.3 ACADS ETFA ETFDH FLAD1 SLC52A1
3 neuropathy 10.2
4 mastoiditis 10.2 CRP MTHFR
5 ischemic neuropathy 10.1 CRP MTHFR
6 testicular infarct 10.1 CRP MTHFR
7 peripheral nervous system disease 10.1
8 madras motor neuron disease 10.1 SLC52A1 SLC52A3
9 lemierre's syndrome 10.1 CRP MTHFR
10 diverticulitis 10.1 ACADS CRP
11 arteritic anterior ischemic optic neuropathy 10.1 CRP MTHFR
12 marasmus 10.1
13 kwashiorkor 10.1
14 carotid artery dissection 10.0 ACADS MTHFR
15 brown-vialetto-van laere syndrome 10.0 FLAD1 SLC52A1 SLC52A3
16 carotid stenosis 10.0 CRP MTHFR
17 prediabetes syndrome 10.0 APOB CRP
18 malaria 10.0
19 cataract 10.0
20 hypothyroidism 10.0
21 multiple acyl-coa dehydrogenase deficiency, severe neonatal type 10.0 ETFA ETFDH FLAD1
22 multiple acyl-coa dehydrogenase deficiency, mild type 10.0 ETFA ETFDH FLAD1
23 ischemic heart disease 9.9 APOB CRP MTHFR
24 peripheral artery disease 9.9 APOB CRP
25 inherited metabolic disorder 9.9 APOB CRP MTHFR
26 cerebrovascular disease 9.9 APOB CRP MTHFR
27 vascular disease 9.9 APOB CRP MTHFR
28 coronary heart disease 1 9.9 APOB CRP MTHFR
29 chronic kidney failure 9.9 APOB CRP MTHFR
30 stroke, ischemic 9.9 APOB CRP MTHFR
31 hypercarotenemia and vitamin a deficiency, autosomal dominant 9.8
32 cleft palate, isolated 9.8
33 esophageal cancer 9.8
34 down syndrome 9.8
35 cystic fibrosis 9.8
36 diabetes mellitus 9.8
37 endemic typhus 9.8
38 angular cheilitis 9.8
39 gastric ulcer 9.8
40 keratomalacia 9.8
41 heart disease 9.8
42 superficial keratitis 9.8
43 polyneuropathy 9.8
44 demyelinating polyneuropathy 9.8
45 lymphosarcoma 9.8
46 blepharitis 9.8
47 exencephaly 9.8
48 granulocytopenia 9.8
49 pyridoxine deficiency 9.8
50 coronary stenosis 9.8 APOB CRP

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



Diseases related to Riboflavin Deficiency

Symptoms & Phenotypes for Riboflavin Deficiency

Symptoms via clinical synopsis from OMIM:

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


Clinical features from OMIM:

615026

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 vitamin b2 deficiency 32 HP:0100504

Drugs & Therapeutics for Riboflavin Deficiency

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

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

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


Genetic Tests for Riboflavin Deficiency

Anatomical Context for Riboflavin Deficiency

MalaCards organs/tissues related to Riboflavin Deficiency:

41
Liver, Heart, Skin, Testes, Kidney, Eye, Brain

Publications for Riboflavin Deficiency

Articles related to Riboflavin Deficiency:

(show top 50) (show all 252)
# Title Authors Year
1
Riboflavin Deficiency in Rats Decreases de novo Formate Production but Does Not Affect Plasma Formate Concentration. ( 28122934 )
2017
2
Riboflavin Deficiency ( 29262062 )
2017
3
Severe riboflavin deficiency induces alterations in the hepatic proteome of starter Pekin ducks. ( 29185933 )
2017
4
Riboflavin deficiency induces a significant change in proteomic profiles in HepG2 cells. ( 28367977 )
2017
5
Adaptive regulation of riboflavin transport in heart: effect of dietary riboflavin deficiency in cardiovascular pathogenesis. ( 28836047 )
2017
6
Disruption of Slc52a3 gene causes neonatal lethality with riboflavin deficiency in mice. ( 27272163 )
2016
7
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). ( 25882633 )
2015
8
Immunomodulatory effect of riboflavin deficiency and enrichment - reversible pathological response versus silencing of inflammatory activation. ( 26769828 )
2015
9
Suspected outbreak of riboflavin deficiency among populations reliant on food assistance: a case study of drought-stricken Karamoja, Uganda, 2009-2010. ( 23658790 )
2013
10
Correcting a marginal riboflavin deficiency improves hematologic status in young women in the United Kingdom (RIBOFEM). ( 21525198 )
2011
11
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. ( 21089064 )
2011
12
Selective vulnerability of peripheral nerves in avian riboflavin deficiency demyelinating polyneuropathy. ( 19112122 )
2009
13
Mild riboflavin deficiency is highly prevalent in school-age children but does not increase risk for anaemia in CA'te d'Ivoire. ( 17381972 )
2007
14
Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. ( 17689999 )
2007
15
Novel fibroblastic onion bulbs in a demyelinating avian peripheral neuropathy produced by riboflavin deficiency. ( 17357800 )
2007
16
Riboflavin deficiency causes protein and DNA damage in HepG2 cells, triggering arrest in G1 phase of the cell cycle. ( 16109485 )
2006
17
Avian riboflavin deficiency: an acquired tomaculous neuropathy. ( 16966461 )
2006
18
Early paranodal myelin swellings (tomacula) in an avian riboflavin deficiency model of demyelinating neuropathy. ( 16336963 )
2006
19
Prevalence of thiamin and riboflavin deficiency among the elderly in Taiwan. ( 16169834 )
2005
20
Riboflavin deficiency and esophageal cancer: a case control-household study in the Caspian Littoral of Iran. ( 16183212 )
2005
21
Riboflavin deficiency impairs oxidative folding and secretion of apolipoprotein B-100 in HepG2 cells, triggering stress response systems. ( 15867268 )
2005
22
HepG2 cells develop signs of riboflavin deficiency within 4 days of culture in riboflavin-deficient medium. ( 16081269 )
2005
23
Erythrocyte riboflavin for the detection of riboflavin deficiency in pregnant Nepali women. ( 16244290 )
2005
24
Riboflavin deficiency induces ocular surface damage. ( 15103207 )
2004
25
Riboflavin deficiency in cystic fibrosis: three case reports. ( 11906577 )
2001
26
Riboflavin deficiency: early effects on post-weaning development of the duodenum in rats. ( 11737957 )
2001
27
Riboflavin deficiency and preeclampsia. ( 10862839 )
2000
28
Decompensation of hepatic and cerebral acyl-CoA metabolism in BALB/cByJ mice by chronic riboflavin deficiency: restoration by acetyl-L-carnitine. ( 9250376 )
1997
29
Sudden death of chicken embryos with hereditary riboflavin deficiency. ( 8642476 )
1996
30
Peripheral neuropathy of dietary riboflavin deficiency in racing pigeons. ( 8672588 )
1996
31
Acute ethanol exposure alters hepatic glutathione metabolism in riboflavin deficiency. ( 7748513 )
1995
32
Hepatic CCAAT/enhancer binding protein (C/EBP-alpha and C/EBP-beta) expression changes with riboflavin deficiency, diet restriction and starvation in rats. ( 16856317 )
1994
33
Effects of riboflavin deficiency and riboflavin administration on carcinogen-DNA binding. ( 8225133 )
1993
34
Prevalence of riboflavin deficiency among Guatemalan elderly people and its relationship to milk intake. ( 8317395 )
1993
35
Defective Down syndrome in chicks is not caused by riboflavin deficiency in breeders. ( 8358643 )
1993
36
A proposed intestinal mechanism for the effect of riboflavin deficiency on iron loss in the rat. ( 8490008 )
1993
37
Significance of phototherapy-induced riboflavin deficiency in the full-term neonate. ( 1567934 )
1992
38
Riboflavin deficiency and iron absorption in adult Gambian men. ( 1590670 )
1992
39
Riboflavin deficiency is associated with selective preservation of critical flavoenzyme-dependent metabolic pathways. ( 1599612 )
1992
40
Low thyroxine levels in female psychiatric inpatients with riboflavin deficiency: implications for folate-dependent methylation. ( 1605056 )
1992
41
Riboflavin deficiency: mucocutaneous signs of acute and chronic deficiency. ( 1764356 )
1991
42
Intramitochondrial fatty acid metabolism: riboflavin deficiency and energy production. ( 1793560 )
1991
43
Riboflavin deficiency caused by treatment with adriamycin. ( 1802973 )
1991
44
Riboflavin deficiency in the rat: effects on iron utilization and loss. ( 1878361 )
1991
45
Glutathione and related indices in rat lenses, liver and red cells during riboflavin deficiency and its correction. ( 1879496 )
1991
46
Plasma ferritin concentrations in anemic children: relative importance of malaria, riboflavin deficiency, and other infections. ( 2309651 )
1990
47
Analysis of the syndrome of congenital malformations induced in genetically defined mice by acute riboflavin deficiency. ( 1981950 )
1990
48
Liberation of 14CO2 from [14C]adipic acid and [14C]octanoic acid by adult rats during riboflavin deficiency and its reversal. ( 2116894 )
1990
49
Riboflavin deficiency. ( 2183235 )
1990
50
Riboflavin deficiency in cultured rat hepatoma cells: a model for studying the hepatic effects of riboflavin deficiency. ( 2318792 )
1990

Variations for Riboflavin Deficiency

ClinVar genetic disease variations for Riboflavin Deficiency:

6 (show all 11)
# 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
8 SLC52A1 NM_017986.3(SLC52A1): c.1240G> A (p.Ala414Thr) single nucleotide variant Uncertain significance rs142353672 GRCh37 Chromosome 17, 4936359: 4936359
9 SLC52A1 NM_017986.3(SLC52A1): c.1240G> A (p.Ala414Thr) single nucleotide variant Uncertain significance rs142353672 GRCh38 Chromosome 17, 5033064: 5033064
10 SLC52A1 NM_017986.3(SLC52A1): c.1321G> C (p.Asp441His) single nucleotide variant Uncertain significance rs148979394 GRCh37 Chromosome 17, 4936278: 4936278
11 SLC52A1 NM_017986.3(SLC52A1): c.1321G> C (p.Asp441His) single nucleotide variant Uncertain significance rs148979394 GRCh38 Chromosome 17, 5032983: 5032983

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 ACADS ETFA ETFDH FLAD1 GSR

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 ACADS ETFA ETFDH GSR MTHFR
2 electron transport chain GO:0022900 9.43 ETFA ETFDH GSR
3 riboflavin transport GO:0032218 9.16 SLC52A1 SLC52A3
4 fatty acid beta-oxidation using acyl-CoA dehydrogenase GO:0033539 9.13 ACADS ETFA ETFDH
5 riboflavin metabolic process GO:0006771 8.92 FLAD1 RFK SLC52A1 SLC52A3

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 ACADS ETFA ETFDH GSR MTHFR
2 electron transfer activity GO:0009055 9.43 ETFA ETFDH GSR
3 NADP binding GO:0050661 9.37 GSR MTHFR
4 low-density lipoprotein particle receptor binding GO:0050750 9.32 APOB CRP
5 flavin adenine dinucleotide binding GO:0050660 9.02 ACADS ETFA ETFDH GSR MTHFR
6 riboflavin transmembrane transporter activity GO:0032217 8.96 SLC52A1 SLC52A3

Sources for Riboflavin Deficiency

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
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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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