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 54 43 71

Classifications:



External Ids:

Disease Ontology 12 DOID:8456
MeSH 43 D002796
SNOMED-CT 67 238113006
UMLS 71 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 non-alcoholic steatohepatitis and fatty liver disease, nonalcoholic 1. An important gene associated with Choline Deficiency Disease is PEMT (Phosphatidylethanolamine N-Methyltransferase), and among its related pathways/superpathways are Metabolism and Glycerophospholipid biosynthesis. The drugs Choline and Lecithin have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and kidney, and related phenotypes are growth/size/body region and liver/biliary system

Wikipedia : 74 Choline /ˈkəʊliːn/ is an essential nutrient for humans and many other animals. Choline occurs as a... 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 109)
# Related Disease Score Top Affiliating Genes
1 non-alcoholic steatohepatitis 31.1 PPARA PEMT NR1H4 GPT
2 fatty liver disease, nonalcoholic 1 30.9 PPARA GPT
3 fatty liver disease 30.9 SREBF1 PPARA NR1H4 GPT
4 homocysteinemia 29.5 MTR MTHFR BHMT AHCY
5 non-alcoholic fatty liver disease 10.6
6 liver disease 10.5
7 liver cirrhosis 10.5
8 total spina bifida aperta 10.3 MTHFR MTHFD1
9 cervicothoracic spina bifida aperta 10.3 MTHFR MTHFD1
10 cervical spina bifida aperta 10.3 MTHFR MTHFD1
11 lumbosacral spina bifida aperta 10.3 MTHFR MTHFD1
12 thoracolumbosacral spina bifida aperta 10.3 MTHFR MTHFD1
13 upper thoracic spina bifida aperta 10.3 MTHFR MTHFD1
14 total spina bifida cystica 10.3 MTHFR MTHFD1
15 thoracolumbosacral spina bifida cystica 10.3 MTHFR MTHFD1
16 lumbosacral spina bifida cystica 10.3 MTHFR MTHFD1
17 cervical spina bifida cystica 10.3 MTHFR MTHFD1
18 cervicothoracic spina bifida cystica 10.3 MTHFR MTHFD1
19 upper thoracic spina bifida cystica 10.3 MTHFR MTHFD1
20 hepatocellular carcinoma 10.2
21 placental abruption 10.2 MTHFR MTHFD1 BHMT
22 adult syndrome 10.2 PPARA IGF2 DNMT1
23 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.2 MTR MTHFR
24 trimethylaminuria 10.1 NR1H4 FMO3 CHDH
25 neural tube defects, folate-sensitive 10.1 MTR MTHFR MTHFD1
26 acute pancreatitis 10.1
27 myelomeningocele 10.1 MTR MTHFR MTHFD1
28 omphalocele 10.1 MTHFR MTHFD1 IGF2
29 anencephaly 10.1 MTR MTHFR MTHFD1
30 homocystinuria 10.0 MTR MTHFR BHMT
31 adenoma 10.0
32 muscular dystrophy 10.0
33 dentinogenesis imperfecta type 2 10.0
34 megaloblastic anemia 10.0 MTR MTHFR MTHFD1
35 fibrosis of extraocular muscles, congenital, 1 10.0
36 papillomatosis, confluent and reticulated 10.0
37 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.0
38 deficiency anemia 10.0
39 glucose intolerance 10.0
40 functional diarrhea 10.0 NR1H4 GPBAR1
41 methotrexate toxicity 9.9 MTR MTHFR GPT
42 vitamin b12 deficiency 9.9 MTR MTHFR GPT
43 physical disorder 9.9 MTR MTHFR MTHFD1 IGF2
44 colorectal adenoma 9.9 MTR MTHFR IGF2
45 viral hepatitis 9.9
46 acute kidney failure 9.9
47 pancreatitis 9.9
48 progressive muscular dystrophy 9.9
49 copper deficiency myelopathy 9.8 MTR AHCY
50 spina bifida occulta 9.8 MTHFR MTHFD1

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



Diseases related to Choline Deficiency Disease

Symptoms & Phenotypes for Choline Deficiency Disease

MGI Mouse Phenotypes related to Choline Deficiency Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.73 BHMT DNMT1 EHMT2 GPBAR1 IGF2 MTHFD1
2 liver/biliary system MP:0005370 9.28 BHMT CHDH GPBAR1 IGF2 MTHFR NR1H4

Drugs & Therapeutics for Choline Deficiency Disease

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

(show all 20)
# 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 Lipid Regulating Agents Phase 2
8 Hypolipidemic Agents Phase 2
9 Antimetabolites Phase 2
10 Liver Extracts Phase 2
11
leucovorin Approved 58-05-9 6006 143
12
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
13 Hormones
14 Hormone Antagonists
15 Nutrients
16 Estrogens
17 Vitamin B Complex
18 Folate
19 Vitamin B9
20 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 Parental One-carbon Folate and Choline Nutrition Modulates Risk of Off-spring Cancer Development: Human Cohort Study Completed NCT02266641
7 Choline Nutritional Status Of Children With Cystic Fibrosis X-Sectional Study Completed NCT01150136
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 71 / NDF-RT 50 :


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:

40
Liver, Brain, Kidney, Lung, Cortex, Pancreas, Bone

Publications for Choline Deficiency Disease

Articles related to Choline Deficiency Disease:

(show top 50) (show all 507)
# Title Authors PMID Year
1
Common genetic polymorphisms affect the human requirement for the nutrient choline. 61 54
16816108 2006
2
Dietary Choline Supplementation Attenuates High-Fat-Diet-Induced Hepatocellular Carcinoma in Mice. 61
31851339 2020
3
The Effects of B1344, a Novel Fibroblast Growth Factor 21 Analog, on Nonalcoholic Steatohepatitis in Nonhuman Primates. 61
32354858 2020
4
Protein kinase C promotes choline transporter‑like protein 1 function via improved cell surface expression in immortalized human hepatic cells. 61
31974614 2020
5
Antagonizing circRNA_002581-miR-122-CPEB1 axis alleviates NASH through restoring PTEN-AMPK-mTOR pathway regulated autophagy. 61
32054840 2020
6
Attenuation of the Hepatoprotective Effects of Ileal Apical Sodium Dependent Bile Acid Transporter (ASBT) Inhibition in Choline-Deficient L-Amino Acid-Defined (CDAA) Diet-Fed Mice. 61
32158763 2020
7
Adiposity May Moderate the Link Between Choline Intake and Non-alcoholic Fatty Liver Disease. 61
31305223 2019
8
Adenovirus‑mediated overexpression of bone morphogenetic protein‑9 promotes methionine choline deficiency‑induced non‑alcoholic steatohepatitis in non‑obese mice. 61
31322255 2019
9
Betaine modulates oxidative stress, inflammation, apoptosis, autophagy, and Akt/mTOR signaling in methionine-choline deficiency-induced fatty liver disease. 61
30689995 2019
10
Choline and choline-related nutrients in regular and preterm infant growth. 61
30298207 2019
11
Methionine-Choline Deprivation Impairs Adult Hippocampal Neurogenesis in C57BL/6 Mice. 61
30990755 2019
12
Choline Supplementation in Cystic Fibrosis-The Metabolic and Clinical Impact. 61
30889905 2019
13
Homocysteine supplementation ameliorates steatohepatitis induced by a choline-deficient diet in mice. 61
30048033 2019
14
Modulation of Tetrachloroethylene-Associated Kidney Effects by Nonalcoholic Fatty Liver or Steatohepatitis in Male C57BL/6J Mice. 61
30202895 2019
15
Feasibility and Stability of Liver Biopsy before Treatment for Preclinical Nonalcoholic Fatty Liver Studies. 61
30636945 2019
16
Development and validation of a quantitative choline food frequency questionnaire for use with drinking and non-drinking pregnant women in Cape Town, South Africa. 61
30466439 2018
17
Evaluation of polyherbal formulation and synthetic choline chloride on choline deficiency model in broilers: implications on zootechnical parameters, serum biochemistry and liver histopathology. 61
29642669 2018
18
Effect of Phyllanthus emblica L. fruit on methionine and choline-deficiency diet-induced nonalcoholic steatohepatitis. 61
30249323 2018
19
Is maternal microbial metabolism an early-life determinant of health? 61
30143761 2018
20
Transport of long-chain polyunsaturated fatty acids in preterm infant plasma is dominated by phosphatidylcholine. 61
28638995 2018
21
Molecular and Functional Characterization of Choline Transporter-Like Proteins in Esophageal Cancer Cells and Potential Therapeutic Targets. 61
29223141 2018
22
Maternal Dietary Choline Status Influences Brain Gray and White Matter Development in Young Pigs. 61
29955727 2018
23
Supplementary choline attenuates olive oil lipid emulsion-induced enterocyte apoptosis through suppression of CELF1/AIF pathway. 61
29105957 2018
24
Pharmacological stimulation of p53 with low-dose doxorubicin ameliorates diet-induced nonalcoholic steatosis and steatohepatitis. 61
29290620 2018
25
Erratum: Comparative study of fatty liver induced by methionine and choline-deficiency in C57BL/6N mice originating from three different sources. 61
29399032 2017
26
Functional analysis of choline transporters in rheumatoid arthritis synovial fibroblasts. 61
28121199 2017
27
Metabolic, Epigenetic, and Transgenerational Effects of Gut Bacterial Choline Consumption. 61
28844887 2017
28
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. 61
28366783 2017
29
Comparative study of fatty liver induced by methionine and choline-deficiency in C57BL/6N mice originating from three different sources. 61
28747982 2017
30
Chicoric acid attenuate a nonalcoholic steatohepatitis by inhibiting key regulators of lipid metabolism, fibrosis, oxidation, and inflammation in mice with methionine and choline deficiency. 61
27981809 2017
31
Phospholipids in mitochondrial dysfunction during hemorrhagic shock. 61
27999981 2017
32
Molecular Imaging with Kupffer Cell-Targeting Nanobodies for Diagnosis and Prognosis in Mouse Models of Liver Pathogenesis. 61
27339464 2017
33
Dietary choline levels modify the effects of prenatal alcohol exposure in rats. 61
27888055 2017
34
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. 61
28099509 2017
35
Choline Deficiency Causes Colonic Type II Natural Killer T (NKT) Cell Loss and Alleviates Murine Colitis under Type I NKT Cell Deficiency. 61
28095507 2017
36
Commentary: 'Unhealthy diet,' nutrient status, and ADHD symptoms: a confounding role for environmental nitrous oxide exposure - reflections on Rijlaarsdam et al. (2016). 61
27982437 2017
37
Metabolic profiling of type 1 diabetes mellitus in children and adolescents: a case-control study. 61
28674557 2017
38
Deletion of Gab2 in mice protects against hepatic steatosis and steatohepatitis: a novel therapeutic target for fatty liver disease. 61
27282405 2016
39
Perinatal choline deficiency delays brain development and alters metabolite concentrations in the young pig. 61
26046479 2016
40
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. 61
27693201 2016
41
Perinatal Dietary Choline Deficiency in Sows Influences Concentrations of Choline Metabolites, Fatty Acids, and Amino Acids in Milk throughout Lactation. 61
27733523 2016
42
Genetic impairments in folate enzymes increase dependence on dietary choline for phosphatidylcholine production at the expense of betaine synthesis. 61
27342765 2016
43
CircRNA expression pattern and circRNA-miRNA-mRNA network in the pathogenesis of nonalcoholic steatohepatitis. 61
27677588 2016
44
The association of serum choline with linear growth failure in young children from rural Malawi. 61
27281303 2016
45
Identification and functional analysis of choline transporter in tongue cancer: A novel molecular target for tongue cancer therapy. 61
27262903 2016
46
Maternal dietary intake of choline in mice regulates development of the cerebral cortex in the offspring. 61
26700730 2016
47
Immunohistochemical determination of the extracellular matrix modulation in a rat model of choline-deprived myocardium: the effects of carnitine. 61
26501493 2016
48
Choline, Its Potential Role in Nonalcoholic Fatty Liver Disease, and the Case for Human and Bacterial Genes. 61
26773011 2016
49
No up-regulation of the phosphatidylethanolamine N-methyltransferase pathway and choline production by sex hormones in cats. 61
26552767 2015
50
Choline deficiency impairs intestinal lipid metabolism in the lactating rat. 61
26092371 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.2 SREBF1 SLC44A5 SLC44A2 SLC44A1 PPARA PEMT
2
Show member pathways
12.53 SLC44A5 SLC44A2 SLC44A1 PEMT CHDH BHMT
3
Show member pathways
12 MTR MTHFR MTHFD1 AHCY
4
Show member pathways
11.65 MTR DNMT1 BHMT AHCY
5
Show member pathways
11.59 MTR MTHFR MTHFD1 DNMT1 BHMT AHCY
6 10.9 SLC44A5 SLC44A2 SLC44A1 PEMT
7 10.68 SREBF1 PPARA

GO Terms for Choline Deficiency Disease

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 10.04 SREBF1 PPARA NR1H4 IGF2 EHMT2 DNMT1
2 cellular response to starvation GO:0009267 9.73 SREBF1 PPARA EHMT2
3 cellular amino acid biosynthetic process GO:0008652 9.67 MTR MTHFD1 GPT
4 intracellular receptor signaling pathway GO:0030522 9.65 SREBF1 PPARA NR1H4
5 one-carbon metabolic process GO:0006730 9.63 MTHFR MTHFD1 AHCY
6 response to lipid GO:0033993 9.61 SREBF1 PPARA NR1H4
7 folic acid metabolic process GO:0046655 9.59 MTHFR MTHFD1
8 positive regulation of gluconeogenesis GO:0045722 9.58 PPARA GPT
9 tetrahydrofolate interconversion GO:0035999 9.58 MTHFR MTHFD1
10 regulation of fatty acid metabolic process GO:0019217 9.55 SREBF1 PPARA
11 methionine metabolic process GO:0006555 9.54 MTHFR MTHFD1
12 S-adenosylmethionine metabolic process GO:0046500 9.54 PEMT MTHFR BHMT
13 choline transport GO:0015871 9.52 SLC44A2 SLC44A1
14 cellular response to bile acid GO:1903413 9.51 NR1H4 GPBAR1
15 choline catabolic process GO:0042426 9.5 SLC44A1 CHDH BHMT
16 phosphatidylcholine biosynthetic process GO:0006656 9.46 SLC44A5 SLC44A2 SLC44A1 PEMT
17 sulfur amino acid metabolic process GO:0000096 9.43 MTR BHMT AHCY
18 methylation GO:0032259 9.43 PEMT MTR EHMT2 DNMT1 BHMT AHCY
19 DNA methylation on cytosine within a CG sequence GO:0010424 9.4 EHMT2 DNMT1
20 methionine biosynthetic process GO:0009086 8.92 MTR MTHFR MTHFD1 BHMT

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

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 9.88 PPARA NR1H4 MTR EHMT2 DNMT1 BHMT
2 flavin adenine dinucleotide binding GO:0050660 9.54 MTHFR FMO3 CHDH
3 nuclear receptor activity GO:0004879 9.5 SREBF1 PPARA NR1H4
4 transcription factor activity, direct ligand regulated sequence-specific DNA binding GO:0098531 9.43 PPARA NR1H4
5 choline transmembrane transporter activity GO:0015220 9.26 SLC44A2 SLC44A1
6 betaine-homocysteine S-methyltransferase activity GO:0047150 9.16 MTR BHMT
7 methyltransferase activity GO:0008168 9.02 PEMT MTR EHMT2 DNMT1 BHMT
8 bile acid receptor activity GO:0038181 8.96 NR1H4 GPBAR1

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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