MCID: CHL045
MIFTS: 39

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 55 44 72

Classifications:



External Ids:

Disease Ontology 12 DOID:8456
MeSH 44 D002796
UMLS 72 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 fatty liver disease and non-alcoholic steatohepatitis. 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 Choline and Lecithin have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and kidney, and related phenotype is Decreased shRNA abundance.

Wikipedia : 75 Choline /E^koESliE?n/ is a water-soluble vitamin-like essential nutrient. It is a constituent of... more...

Related Diseases for Choline Deficiency Disease

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 fatty liver disease 10.8
2 non-alcoholic steatohepatitis 10.7
3 fatty liver disease, nonalcoholic 1 10.6
4 non-alcoholic fatty liver disease 10.6
5 liver disease 10.5
6 liver cirrhosis 10.5
7 hepatocellular carcinoma 10.2
8 homocysteinemia 10.2
9 acute pancreatitis 10.1
10 hepatic adenomas, familial 10.0
11 adenoma 10.0
12 muscular dystrophy 10.0
13 dentinogenesis imperfecta type 2 10.0
14 fibrosis of extraocular muscles, congenital, 1 10.0
15 papillomatosis, confluent and reticulated 10.0
16 deficiency anemia 10.0
17 glucose intolerance 10.0
18 triiodothyronine receptor auxiliary protein 9.9
19 viral hepatitis 9.9
20 acute kidney failure 9.9
21 pancreatitis 9.9
22 48,xyyy 9.9
23 hemoglobinemia 9.9
24 progressive muscular dystrophy 9.9
25 toxocariasis 9.9 SLC44A2 SLC44A1
26 creatine phosphokinase, elevated serum 9.7
27 hypercholesterolemia, familial, 1 9.7
28 hypertension, essential 9.7
29 pheochromocytoma 9.7
30 polykaryocytosis inducer 9.7
31 hydrops, lactic acidosis, and sideroblastic anemia 9.7
32 adrenal gland pheochromocytoma 9.7
33 colitis 9.7
34 thrombosis 9.7
35 bone resorption disease 9.7
36 postural orthostatic tachycardia syndrome 9.7
37 interstitial nephritis 9.7
38 renal hypertension 9.7
39 portal hypertension 9.7
40 visual epilepsy 9.7
41 hemosiderosis 9.7
42 alcoholic hepatitis 9.7
43 dysentery 9.7
44 cholestasis 9.7
45 reye syndrome 9.7
46 alcohol use disorder 9.7
47 vascular disease 9.7
48 hyperinsulinism 9.7
49 arteriosclerosis 9.7
50 iron metabolism disease 9.7

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:

26
# 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 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Choline Approved, Nutraceutical Phase 2 62-49-7 305
2 Lecithin Phase 2
3 Flax Phase 2
4 Soy Bean Phase 2
5 Sunflower Phase 2
6 Gastrointestinal Agents Phase 2
7 Nootropic Agents Phase 2
8 Lipid Regulating Agents Phase 2
9 Hypolipidemic Agents Phase 2
10 Antimetabolites Phase 2
11 Liver Extracts Phase 2
12
leucovorin Approved 58-05-9 143 6006
13
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
14 Estrogens
15 Hormones
16 Nutrients
17 Hormone Antagonists
18 Hormones, Hormone Substitutes, and Hormone Antagonists
19 Trace Elements
20 Micronutrients
21 Vitamins
22 Vitamin B9
23 Vitamin B Complex
24 Hematinics
25 Folate
26 Omega 3 Fatty Acid

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Phase II Study: LYM-X-SORB™, an Organized Lipid Matrix: Fatty Acids and Choline in CF Completed NCT00406536 Phase 2
2 Prevention of TPN-Associated Hepatic Steatosis: A Placebo Controlled Trial Terminated NCT00031135 Phase 2 Choline Chloride
3 Human Requirements for the Nutrient Choline Completed NCT00065546
4 To Investigate Whether Choline Supplementation in Children With CF Will Correct Biochemical Markers of Choline Deficiency and Improve Plasma Indices of Methylation Capacity and Redox Status and Result in Decreased Pro-inflammatory Cytokines Completed NCT00686361 Choline supplementation
5 Supplemental Choline and Neurodevelopment in Humans Completed NCT00678925
6 Choline Nutritional Status Of Children With Cystic Fibrosis X-Sectional Study Completed NCT01150136
7 Parental One-carbon Folate and Choline Nutrition Modulates Risk of Off-spring Cancer Development: Human Cohort Study Completed NCT02266641
8 Nahrungsergänzung Mit Cholin- Und Docosahexaensäure Bei Sehr Unreifen Frühgeborenen Completed NCT02509728
9 Cracking the Egg Potential: Improving Young Child Nutrition in Ecuador Completed NCT02446873
10 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 Recruiting NCT02650115
11 The Association Between Dietary Choline, Genetics and Anxiety/Depression Not yet recruiting NCT04036552

Search NIH Clinical Center for Choline Deficiency Disease

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


Choline
CHOLINE BITARTRATE PWDR

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:

41
Liver, Brain, Kidney, Lung, Pancreas, Cortex, Bone

Publications for Choline Deficiency Disease

Articles related to Choline Deficiency Disease:

(show top 50) (show all 503)
# Title Authors PMID Year
1
Common genetic polymorphisms affect the human requirement for the nutrient choline. 9 38
16816108 2006
2
Adenovirus‑mediated overexpression of bone morphogenetic protein‑9 promotes methionine choline deficiency‑induced non‑alcoholic steatohepatitis in non‑obese mice. 38
31322255 2019
3
Adiposity May Moderate the Link Between Choline Intake and Non-alcoholic Fatty Liver Disease. 38
31305223 2019
4
Betaine modulates oxidative stress, inflammation, apoptosis, autophagy, and Akt/mTOR signaling in methionine-choline deficiency-induced fatty liver disease. 38
30689995 2019
5
Choline and choline-related nutrients in regular and preterm infant growth. 38
30298207 2019
6
Methionine-Choline Deprivation Impairs Adult Hippocampal Neurogenesis in C57BL/6 Mice. 38
30990755 2019
7
Choline Supplementation in Cystic Fibrosis-The Metabolic and Clinical Impact. 38
30889905 2019
8
Homocysteine supplementation ameliorates steatohepatitis induced by a choline-deficient diet in mice. 38
30048033 2019
9
Murine Methyl Donor Deficiency Impairs Early Growth in Association with Dysmorphic Small Intestinal Crypts and Reduced Gut Microbial Community Diversity. 38
30643852 2019
10
Feasibility and Stability of Liver Biopsy before Treatment for Preclinical Nonalcoholic Fatty Liver Studies. 38
30636945 2019
11
Modulation of Tetrachloroethylene-Associated Kidney Effects by Nonalcoholic Fatty Liver or Steatohepatitis in Male C57BL/6J Mice. 38
30202895 2019
12
Development and validation of a quantitative choline food frequency questionnaire for use with drinking and non-drinking pregnant women in Cape Town, South Africa. 38
30466439 2018
13
Evaluation of polyherbal formulation and synthetic choline chloride on choline deficiency model in broilers: implications on zootechnical parameters, serum biochemistry and liver histopathology. 38
29642669 2018
14
Effect of Phyllanthus emblica L. fruit on methionine and choline-deficiency diet-induced nonalcoholic steatohepatitis. 38
30249323 2018
15
Transport of long-chain polyunsaturated fatty acids in preterm infant plasma is dominated by phosphatidylcholine. 38
28638995 2018
16
Is maternal microbial metabolism an early-life determinant of health? 38
30143761 2018
17
Molecular and Functional Characterization of Choline Transporter-Like Proteins in Esophageal Cancer Cells and Potential Therapeutic Targets. 38
29223141 2018
18
Maternal Dietary Choline Status Influences Brain Gray and White Matter Development in Young Pigs. 38
29955727 2018
19
Supplementary choline attenuates olive oil lipid emulsion-induced enterocyte apoptosis through suppression of CELF1/AIF pathway. 38
29105957 2018
20
Pharmacological stimulation of p53 with low-dose doxorubicin ameliorates diet-induced nonalcoholic steatosis and steatohepatitis. 38
29290620 2018
21
Erratum: Comparative study of fatty liver induced by methionine and choline-deficiency in C57BL/6N mice originating from three different sources. 38
29399032 2017
22
Functional analysis of choline transporters in rheumatoid arthritis synovial fibroblasts. 38
28121199 2017
23
Metabolic, Epigenetic, and Transgenerational Effects of Gut Bacterial Choline Consumption. 38
28844887 2017
24
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. 38
28366783 2017
25
Comparative study of fatty liver induced by methionine and choline-deficiency in C57BL/6N mice originating from three different sources. 38
28747982 2017
26
Chicoric acid attenuate a nonalcoholic steatohepatitis by inhibiting key regulators of lipid metabolism, fibrosis, oxidation, and inflammation in mice with methionine and choline deficiency. 38
27981809 2017
27
Phospholipids in mitochondrial dysfunction during hemorrhagic shock. 38
27999981 2017
28
Molecular Imaging with Kupffer Cell-Targeting Nanobodies for Diagnosis and Prognosis in Mouse Models of Liver Pathogenesis. 38
27339464 2017
29
Dietary choline levels modify the effects of prenatal alcohol exposure in rats. 38
27888055 2017
30
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. 38
28099509 2017
31
Choline Deficiency Causes Colonic Type II Natural Killer T (NKT) Cell Loss and Alleviates Murine Colitis under Type I NKT Cell Deficiency. 38
28095507 2017
32
Commentary: 'Unhealthy diet,' nutrient status, and ADHD symptoms: a confounding role for environmental nitrous oxide exposure - reflections on Rijlaarsdam et al. (2016). 38
27982437 2017
33
Metabolic profiling of type 1 diabetes mellitus in children and adolescents: a case-control study. 38
28674557 2017
34
Deletion of Gab2 in mice protects against hepatic steatosis and steatohepatitis: a novel therapeutic target for fatty liver disease. 38
27282405 2016
35
Perinatal choline deficiency delays brain development and alters metabolite concentrations in the young pig. 38
26046479 2016
36
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. 38
27693201 2016
37
Perinatal Dietary Choline Deficiency in Sows Influences Concentrations of Choline Metabolites, Fatty Acids, and Amino Acids in Milk throughout Lactation. 38
27733523 2016
38
Genetic impairments in folate enzymes increase dependence on dietary choline for phosphatidylcholine production at the expense of betaine synthesis. 38
27342765 2016
39
CircRNA expression pattern and circRNA-miRNA-mRNA network in the pathogenesis of nonalcoholic steatohepatitis. 38
27677588 2016
40
The association of serum choline with linear growth failure in young children from rural Malawi. 38
27281303 2016
41
Identification and functional analysis of choline transporter in tongue cancer: A novel molecular target for tongue cancer therapy. 38
27262903 2016
42
Maternal dietary intake of choline in mice regulates development of the cerebral cortex in the offspring. 38
26700730 2016
43
Immunohistochemical determination of the extracellular matrix modulation in a rat model of choline-deprived myocardium: the effects of carnitine. 38
26501493 2016
44
Choline, Its Potential Role in Nonalcoholic Fatty Liver Disease, and the Case for Human and Bacterial Genes. 38
26773011 2016
45
No up-regulation of the phosphatidylethanolamine N-methyltransferase pathway and choline production by sex hormones in cats. 38
26552767 2015
46
Choline deficiency impairs intestinal lipid metabolism in the lactating rat. 38
26092371 2015
47
Effects of dietary choline availability on latent inhibition of flavor aversion learning. 38
24840626 2015
48
Maternal Choline Status, but Not Fetal Genotype, Influences Cord Plasma Choline Metabolite Concentrations. 38
25972528 2015
49
Mechanism of choline deficiency and membrane alteration in postural orthostatic tachycardia syndrome primary skin fibroblasts. 38
25466896 2015
50
Alpha-lipoic acid affects the oxidative stress in various brain structures in mice with methionine and choline deficiency. 38
25193852 2015

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 UGT2B28 UGT2B10 UGT2A3 SLC44A2 SLC44A1 PEMT
2
Show member pathways
12.77 UGT2B28 UGT2B10 UGT2A3 MGST3 MGST2
3
Show member pathways
12.39 SLC44A2 SLC44A1 PEMT CHDH BHMT
4
Show member pathways
12.28 UGT2B28 UGT2B10 UGT2A3 MGST3 MGST2
5
Show member pathways
11.99 UGT2B28 UGT2B10 UGT2A3
6 11.36 MGST3 MGST2
7
Show member pathways
11.32 UGT2B28 UGT2B10 UGT2A3
8
Show member pathways
11.19 CHDH BHMT
9
Show member pathways
10.86 MGST3 MGST2
10 10.77 MGST3 MGST2
11 10.58 SLC44A2 SLC44A1 PEMT

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 UGT2B28 UGT2B10 UGT2A3 SLC44A2 SLC44A1 PEMT
2 endoplasmic reticulum membrane GO:0005789 9.55 UGT2B28 UGT2B10 PEMT MGST3 MGST2
3 intracellular membrane-bounded organelle GO:0043231 9.35 UGT2B28 UGT2B10 UGT2A3 MGST3 MGST2
4 organelle membrane GO:0031090 8.92 UGT2B28 UGT2B10 MGST3 MGST2
5 membrane GO:0016020 10.02 UGT2B28 UGT2B10 UGT2A3 SLC44A2 SLC44A1 PEMT

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

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

Sources for Choline Deficiency Disease

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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