MCID: CHL045
MIFTS: 40

Choline Deficiency Disease

Categories: Metabolic diseases

Aliases & Classifications for Choline Deficiency Disease

MalaCards integrated aliases for Choline Deficiency Disease:

Name: Choline Deficiency Disease 12 15
Choline Deficiency 12 56 45 74

Classifications:



External Ids:

Disease Ontology 12 DOID:8456
MeSH 45 D002796
UMLS 74 C0008412

Summaries for Choline Deficiency Disease

Disease Ontology : 12 A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has material basis in inadequate intake and exacerbated by a genetic predisposition.

MalaCards based summary : Choline Deficiency Disease, also known as choline deficiency, is related to nonalcoholic steatohepatitis and fatty liver disease. An important gene associated with Choline Deficiency Disease is PEMT (Phosphatidylethanolamine N-Methyltransferase), and among its related pathways/superpathways are Metabolism and Cytochrome P450 - arranged by substrate type. The drugs leucovorin and Choline have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and kidney, and related phenotype is Decreased shRNA abundance.

Wikipedia : 77 Choline /ˈkoʊliːn/ is a water-soluble vitamin-like essential nutrient. It is a constituent of lecithin,... more...

Related Diseases for Choline Deficiency Disease

Graphical network of the top 20 diseases related to Choline Deficiency Disease:



Diseases related to Choline Deficiency Disease

Symptoms & Phenotypes for Choline Deficiency Disease

GenomeRNAi Phenotypes related to Choline Deficiency Disease according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.8 CHDH SLC44A1 UGT2B10

Drugs & Therapeutics for Choline Deficiency Disease

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Not Applicable 58-05-9 143 6006
2
Choline Approved, Nutraceutical Not Applicable 62-49-7 305
3
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
4 Lipid Regulating Agents Not Applicable
5 Hypolipidemic Agents Not Applicable
6 Nootropic Agents Not Applicable
7 Gastrointestinal Agents Not Applicable
8 Antimetabolites Not Applicable
9 Vitamin B9 Not Applicable
10 Nutrients Not Applicable
11 Hematinics Not Applicable
12 Vitamin B Complex Not Applicable
13 Vitamins Not Applicable
14 Folate Not Applicable
15 Micronutrients Not Applicable
16 Trace Elements Not Applicable
17 Estrogens Not Applicable
18 Hormones, Hormone Substitutes, and Hormone Antagonists Not Applicable
19 Hormone Antagonists Not Applicable
20 Hormones Not Applicable
21 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Choline Nutrition in Children With Cystic Fibrosis (CF) Completed NCT00686361 Not Applicable Choline supplementation
2 Cracking the Egg Potential: Improving Young Child Nutrition in Ecuador Completed NCT02446873 Not Applicable
3 Parental One-carbon Folate and Choline Nutrition Modulates Risk of Off-spring Cancer Development: Human Cohort Study Completed NCT02266641 Not Applicable
4 Human Requirements for the Nutrient Choline Completed NCT00065546 Not Applicable
5 Evaluation of the Involvement of the Intestinal Microbiota and Choline Deficiency in the Severity of Chronic Liver Disease Explored by Analyzing Collection of Biological Samples (MICRONACH) Recruiting NCT02650115

Search NIH Clinical Center for Choline Deficiency Disease

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


Cochrane evidence based reviews: choline deficiency

Genetic Tests for Choline Deficiency Disease

Anatomical Context for Choline Deficiency Disease

MalaCards organs/tissues related to Choline Deficiency Disease:

42
Liver, Brain, Kidney, Lung, Heart, Fetal Brain, Bone

Publications for Choline Deficiency Disease

Articles related to Choline Deficiency Disease:

(show top 50) (show all 269)
# Title Authors Year
1
Betaine modulates oxidative stress, inflammation, apoptosis, autophagy, and Akt/mTOR signaling in methionine-choline deficiency-induced fatty liver disease. ( 30689995 )
2019
2
Effect of Phyllanthus emblica L. fruit on methionine and choline-deficiency diet-induced nonalcoholic steatohepatitis. ( 30249323 )
2018
3
Evaluation of polyherbal formulation and synthetic choline chloride on choline deficiency model in broilers: implications on zootechnical parameters, serum biochemistry and liver histopathology. ( 29642669 )
2018
4
Chicoric acid attenuate a nonalcoholic steatohepatitis by inhibiting key regulators of lipid metabolism, fibrosis, oxidation, and inflammation in mice with methionine and choline deficiency. ( 27981809 )
2017
5
Intestinal immune responses of Jian carp against Aeromonas hydrophila depressed by choline deficiency: Varied change patterns of mRNA levels of cytokines, tight junction proteins and related signaling molecules among three intestinal segments. ( 28366783 )
2017
6
Erratum: Comparative study of fatty liver induced by methionine and choline-deficiency in C57BL/6N mice originating from three different sources. ( 29399032 )
2017
7
Comparative study of fatty liver induced by methionine and choline-deficiency in C57BL/6N mice originating from three different sources. ( 28747982 )
2017
8
Choline Deficiency Causes Colonic Type II Natural Killer T (NKT) Cell Loss and Alleviates Murine Colitis under Type I NKT Cell Deficiency. ( 28095507 )
2017
9
A Comparative Study on Antioxidant System in Fish Hepatopancreas and Intestine Affected by Choline Deficiency: Different Change Patterns of Varied Antioxidant Enzyme Genes and Nrf2 Signaling Factors. ( 28099509 )
2017
10
Dietary choline deficiency and excess induced intestinal inflammation and alteration of intestinal tight junction protein transcription potentially by modulating NF-κB, STAT and p38 MAPK signaling molecules in juvenile Jian carp. ( 27693201 )
2016
11
Perinatal choline deficiency delays brain development and alters metabolite concentrations in the young pig. ( 26046479 )
2016
12
Perinatal Dietary Choline Deficiency in Sows Influences Concentrations of Choline Metabolites, Fatty Acids, and Amino Acids in Milk throughout Lactation. ( 27733523 )
2016
13
Mechanism of choline deficiency and membrane alteration in postural orthostatic tachycardia syndrome primary skin fibroblasts. ( 25466896 )
2015
14
Alpha-lipoic acid affects the oxidative stress in various brain structures in mice with methionine and choline deficiency. ( 25193852 )
2015
15
Purified anthocyanins from bilberry and black currant attenuate hepatic mitochondrial dysfunction and steatohepatitis in mice with methionine and choline deficiency. ( 25536170 )
2015
16
Choline deficiency impairs intestinal lipid metabolism in the lactating rat. ( 26092371 )
2015
17
Moderate Perinatal Choline Deficiency Elicits Altered Physiology and Metabolomic Profiles in the Piglet. ( 26196148 )
2015
18
Suppression effects of betaine-enriched spinach on hyperhomocysteinemia induced by guanidinoacetic acid and choline deficiency in rats. ( 25250392 )
2014
19
The protective effect of menhaden oil in the oxidative damage and renal necrosis due to dietary choline deficiency. ( 23235886 )
2013
20
Heart dysfunction induced by choline-deficiency in adult rats: the protective role of L-carnitine. ( 23562624 )
2013
21
Role of choline deficiency in the Fatty liver phenotype of mice fed a low protein, very low carbohydrate ketogenic diet. ( 24009777 )
2013
22
Effects of betaine supplementation and choline deficiency on folate deficiency-induced hyperhomocysteinemia in rats. ( 22790564 )
2012
23
Factors contributing to the resistivity of a higher casein diet against choline deficiency-induced hyperhomocysteinemia in rats. ( 22790565 )
2012
24
Effect of dietary supplementation with folate on choline deficiency-induced hyperhomocysteinemia in rats. ( 23007063 )
2012
25
Dietary choline deficiency causes DNA strand breaks and alters epigenetic marks on DNA and histones. ( 22041500 )
2012
26
Choline Deficiency Attenuates Body Weight Gain and Improves Glucose Tolerance in ob/ob Mice. ( 22778916 )
2012
27
Methionine and serine synergistically suppress hyperhomocysteinemia induced by choline deficiency, but not by guanidinoacetic acid, in rats fed a low casein diet. ( 22146711 )
2011
28
Aberrant estrogen regulation of PEMT results in choline deficiency-associated liver dysfunction. ( 21059658 )
2011
29
Metabolic pathways promoting intrahepatic fatty acid accumulation in methionine and choline deficiency: implications for the pathogenesis of steatohepatitis. ( 21119028 )
2011
30
Association between composition of the human gastrointestinal microbiome and development of fatty liver with choline deficiency. ( 21129376 )
2011
31
Effect of vitamin K2 on cortical and cancellous bone mass and hepatic lipids in rats with combined methionine-choline deficiency. ( 21352961 )
2011
32
Prenatal choline deficiency does not enhance hippocampal vulnerability after kainic acid-induced seizures in adulthood. ( 21840511 )
2011
33
Interaction between total body gamma-irradiation and choline deficiency triggers immediate modulation of choline and choline-containing moieties. ( 21923302 )
2011
34
Time-dependent changes in lipid metabolism in mice with methionine choline deficiency-induced fatty liver disease. ( 22083307 )
2011
35
Choline deficiency alters global histone methylation and epigenetic marking at the Re1 site of the calbindin 1 gene. ( 19752176 )
2010
36
Oxidative damage: the biochemical mechanism of cellular injury and necrosis in choline deficiency. ( 19913531 )
2010
37
Maternal dietary choline deficiency alters angiogenesis in fetal mouse hippocampus. ( 20624989 )
2010
38
Increased susceptibility to experimental steatohepatitis induced by methionine-choline deficiency in HBs-Tg mice. ( 20943461 )
2010
39
Perinatal choline deficiency produces abnormal sensory inhibition in Sprague-Dawley rats. ( 18778692 )
2008
40
Prenatal choline deficiency increases choline transporter expression in the septum and hippocampus during postnatal development and in adulthood in rats. ( 17399691 )
2007
41
Gestational choline deficiency causes global and Igf2 gene DNA hypermethylation by up-regulation of Dnmt1 expression. ( 17724018 )
2007
42
A developmental cycle masks output from the circadian oscillator under conditions of choline deficiency in Neurospora. ( 18056807 )
2007
43
Dietary choline deficiency alters global and gene-specific DNA methylation in the developing hippocampus of mouse fetal brains. ( 16394266 )
2006
44
Diethanolamine and phenobarbital produce an altered pattern of methylation in GC-rich regions of DNA in B6C3F1 mouse hepatocytes similar to that resulting from choline deficiency. ( 16396840 )
2006
45
Distinct effects of folate and choline deficiency on plasma kinetics of methionine and homocysteine in rats. ( 16784961 )
2006
46
Choline deficiency is associated with increased risk for venous catheter thrombosis. ( 16804129 )
2006
47
Choline deficiency increases lymphocyte apoptosis and DNA damage in humans. ( 16825685 )
2006
48
LINE-1 hypomethylation in a choline-deficiency-induced liver cancer in rats: dependence on feeding period. ( 16877811 )
2006
49
Ocular lesions and experimental choline deficiency. ( 17137170 )
2006
50
Regulation of choline deficiency apoptosis by epidermal growth factor in CWSV-1 rat hepatocytes. ( 15665516 )
2005

Variations for Choline Deficiency Disease

Expression for Choline Deficiency Disease

Search GEO for disease gene expression data for Choline Deficiency Disease.

Pathways for Choline Deficiency Disease

Pathways related to Choline Deficiency Disease according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 BHMT CHDH MGST2 MGST3 PEMT SLC44A1
2
Show member pathways
12.77 MGST2 MGST3 UGT2A3 UGT2B10 UGT2B28
3
Show member pathways
12.39 BHMT CHDH PEMT SLC44A1 SLC44A2
4
Show member pathways
12.28 MGST2 MGST3 UGT2A3 UGT2B10 UGT2B28
5
Show member pathways
11.99 UGT2A3 UGT2B10 UGT2B28
6 11.36 MGST2 MGST3
7
Show member pathways
11.32 UGT2A3 UGT2B10 UGT2B28
8
Show member pathways
11.19 BHMT CHDH
9
Show member pathways
10.86 MGST2 MGST3
10 10.77 MGST2 MGST3
11 10.58 PEMT SLC44A1 SLC44A2

GO Terms for Choline Deficiency Disease

Cellular components related to Choline Deficiency Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.91 ABCC12 MGST2 MGST3 PEMT SLC44A1 SLC44A2
2 endoplasmic reticulum membrane GO:0005789 9.55 MGST2 MGST3 PEMT UGT2B10 UGT2B28
3 intracellular membrane-bounded organelle GO:0043231 9.35 MGST2 MGST3 UGT2A3 UGT2B10 UGT2B28
4 organelle membrane GO:0031090 8.92 MGST2 MGST3 UGT2B10 UGT2B28
5 membrane GO:0016020 10.02 ABCC12 CHDH MGST2 MGST3 PEMT SLC44A1

Biological processes related to Choline Deficiency Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.71 MGST2 MGST3 PEMT UGT2B10
2 xenobiotic metabolic process GO:0006805 9.48 MGST2 MGST3
3 cellular oxidant detoxification GO:0098869 9.46 MGST2 MGST3
4 response to organonitrogen compound GO:0010243 9.43 MGST2 MGST3
5 glutathione derivative biosynthetic process GO:1901687 9.37 MGST2 MGST3
6 leukotriene biosynthetic process GO:0019370 9.32 MGST2 MGST3
7 choline transport GO:0015871 9.26 SLC44A1 SLC44A2
8 S-adenosylmethionine metabolic process GO:0046500 9.16 BHMT PEMT
9 phosphatidylcholine biosynthetic process GO:0006656 9.13 PEMT SLC44A1 SLC44A2
10 choline catabolic process GO:0042426 8.8 BHMT CHDH SLC44A1

Molecular functions related to Choline Deficiency Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.87 BHMT MGST2 MGST3 PEMT UGT2A3 UGT2B10
2 transferase activity, transferring glycosyl groups GO:0016757 9.63 UGT2A3 UGT2B10 UGT2B28
3 glutathione transferase activity GO:0004364 9.43 MGST2 MGST3
4 glutathione peroxidase activity GO:0004602 9.4 MGST2 MGST3
5 choline transmembrane transporter activity GO:0015220 9.37 SLC44A1 SLC44A2
6 transferase activity, transferring hexosyl groups GO:0016758 9.33 UGT2A3 UGT2B10 UGT2B28
7 leukotriene-C4 synthase activity GO:0004464 9.26 MGST2 MGST3
8 glucuronosyltransferase activity GO:0015020 9.13 UGT2A3 UGT2B10 UGT2B28
9 UDP-glycosyltransferase activity GO:0008194 8.8 UGT2A3 UGT2B10 UGT2B28

Sources for Choline Deficiency Disease

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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