MCID: CHL045
MIFTS: 39

Choline Deficiency Disease

Categories: Endocrine diseases, Metabolic diseases
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Aliases & Classifications for Choline Deficiency Disease

MalaCards integrated aliases for Choline Deficiency Disease:

Name: Choline Deficiency Disease 11 14
Choline Deficiency 11 53 43 71 33

Classifications:



External Ids:

Disease Ontology 11 DOID:8456
MeSH 43 D002796
SNOMED-CT 68 238113006
ICD11 33 1231437224
UMLS 71 C0008412

Summaries for Choline Deficiency Disease

Disease Ontology: 11 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 hyperhomocysteinemia and non-alcoholic 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 Glycerophospholipid biosynthesis. The drugs Choline and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and kidney, and related phenotypes are no effect and no effect

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 155)
# Related Disease Score Top Affiliating Genes
1 hyperhomocysteinemia 30.3 MTR MTHFR MTHFD1 BHMT
2 non-alcoholic fatty liver disease 30.1 SREBF1 PPARA PEMT NR1H4 INS GPT
3 fatty liver disease 30.0 SREBF1 PPARA NR1H4 INS GPT
4 liver disease 29.7 SREBF1 PPARA NR1H4 INS GPT
5 hypercholesterolemia, familial, 1 29.7 NR1H4 INS GPT
6 arteriosclerosis 29.5 PPARA INS GPT FMO3
7 non-alcoholic steatohepatitis 29.4 SREBF1 PPARA NR1H4 INS GPT GPBAR1
8 familial hyperlipidemia 29.4 PPARA INS DGAT2
9 lipid metabolism disorder 29.2 SREBF1 PPARA NR1H4 INS H2AC18 GPT
10 vascular disease 29.1 NR1H4 MTR MTHFR INS H2AC18 BHMT
11 deficiency anemia 29.1 PPARA MTR INS H2AC18 GPT DNMT1
12 cardiovascular system disease 29.1 PPARA NR1H4 MTR MTHFR INS H2AC18
13 froelich syndrome 10.3 SLC44A1 PEMT CHDH
14 liver cirrhosis 10.3
15 fatty liver disease, nonalcoholic 1 10.3
16 total spina bifida aperta 10.3 MTHFR MTHFD1
17 cervicothoracic spina bifida aperta 10.3 MTHFR MTHFD1
18 cervical spina bifida aperta 10.3 MTHFR MTHFD1
19 lumbosacral spina bifida aperta 10.3 MTHFR MTHFD1
20 thoracolumbosacral spina bifida aperta 10.3 MTHFR MTHFD1
21 upper thoracic spina bifida aperta 10.3 MTHFR MTHFD1
22 total spina bifida cystica 10.3 MTHFR MTHFD1
23 thoracolumbosacral spina bifida cystica 10.3 MTHFR MTHFD1
24 lumbosacral spina bifida cystica 10.3 MTHFR MTHFD1
25 cervical spina bifida cystica 10.3 MTHFR MTHFD1
26 cervicothoracic spina bifida cystica 10.3 MTHFR MTHFD1
27 upper thoracic spina bifida cystica 10.3 MTHFR MTHFD1
28 albinism, oculocutaneous, type v 10.2 NR1H4 GPBAR1
29 trimethylaminuria 10.2 NR1H4 FMO3 CHDH
30 pericholangitis 10.2 NR1H4 GPT
31 homocysteinemia 10.2 MTR MTHFR
32 glycine n-methyltransferase deficiency 10.2 PEMT MTHFR BHMT
33 functional diarrhea 10.2 NR1H4 GPBAR1
34 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.2 MTR MTHFR
35 cholangitis 10.2 NR1H4 GPT GPBAR1
36 endemic typhus 10.1 H2AC18 GPT
37 intrahepatic cholestasis of pregnancy 10.1 NR1H4 GPT GPBAR1
38 sclerosing cholangitis 10.1 NR1H4 GPT GPBAR1
39 fetal alcohol spectrum disorder 10.1 IGF2 H2AC18 DNMT1
40 methylmalonic aciduria and homocystinuria, cblx type 10.1 MTR MTHFR BHMT
41 homocystinuria 10.1 MTR MTHFR BHMT
42 neural tube defects, folate-sensitive 10.1 MTR MTHFR MTHFD1
43 myelomeningocele 10.1 MTR MTHFR MTHFD1
44 blood coagulation disease 10.1 MTHFR H2AC18 GPT
45 retroperitoneal hemangiopericytoma 10.1 INS IGF2
46 megaloblastic anemia 10.0 MTR MTHFR MTHFD1
47 peptic ulcer disease 10.0 INS H2AC18 GPT
48 familial partial lipodystrophy 10.0 SREBF1 PPARA INS
49 mineral metabolism disease 10.0 INS H2AC18 GPT
50 bile duct disease 10.0 NR1H4 H2AC18 GPT GPBAR1

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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.21 BHMT CHDH DGAT2 DNMT1 FMO3 GPBAR1
2 no effect GR00402-S-2 10.21 BHMT CHDH DGAT2 DNMT1 FMO3 GPBAR1

MGI Mouse Phenotypes related to Choline Deficiency Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 10 BHMT CHDH DGAT2 GPBAR1 IGF2 INS
2 homeostasis/metabolism MP:0005376 9.8 BHMT CHDH DGAT2 FMO3 GPBAR1 IGF2
3 adipose tissue MP:0005375 9.7 BHMT DGAT2 FMO3 GPBAR1 INS NR1H4
4 growth/size/body region MP:0005378 9.44 BHMT DGAT2 DNMT1 FMO3 GPBAR1 IGF2

Drugs & Therapeutics for Choline Deficiency Disease

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

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Choline Approved, Nutraceutical 62-49-7 305
2 Liver Extracts
3 Gastrointestinal Agents
4 Lipid Regulating Agents
5 Antimetabolites
6 Hypolipidemic Agents
7 Nootropic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Association Between Dietary Choline, Genetics and Anxiety/Depression Unknown status NCT04036552
2 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 Completed NCT02650115
3 Cracking the Egg Potential: Improving Young Child Nutrition in Ecuador Completed NCT02446873
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

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

Organs/tissues related to Choline Deficiency Disease:

MalaCards : Liver, Brain, Kidney, Pancreas, Adrenal Cortex, Cortex, Fetal Liver

Publications for Choline Deficiency Disease

Articles related to Choline Deficiency Disease:

(show top 50) (show all 541)
# Title Authors PMID Year
1
Common genetic polymorphisms affect the human requirement for the nutrient choline. 53 62
16816108 2006
2
Exosomes derived from human umbilical cord mesenchymal stem cells ameliorate experimental non-alcoholic steatohepatitis via Nrf2/NQO-1 pathway. 62
36096356 2022
3
Exploring the Therapeutic Effects of Black Ginseng on Non-Alcoholic Fatty Liver Disease by Using Network Pharmacology and Molecular Docking. 62
36040357 2022
4
Discovery of Betulinic Acid Derivatives as Potent Intestinal Farnesoid X Receptor Antagonists to Ameliorate Nonalcoholic Steatohepatitis. 62
36107013 2022
5
Hepatic PEMT Expression Decreases with Increasing NAFLD Severity. 62
36012560 2022
6
Hepatocyte-derived MASP1-enriched small extracellular vesicles activate HSCs to promote liver fibrosis. 62
35849032 2022
7
Tanshinone IIA regulates the TGF-β1/Smad signaling pathway to ameliorate non-alcoholic steatohepatitis-related fibrosis. 62
35761808 2022
8
[Functional characteristics of YAP-positive hepatocytes expression in an early stage of NASH with transcriptome sequence analysis]. 62
36038328 2022
9
Rhubarb free anthraquinones improved mice nonalcoholic fatty liver disease by inhibiting NLRP3 inflammasome. 62
35765026 2022
10
Severe choline deficiency induces alternative splicing aberrance in optimized duck primary hepatocyte cultures. 62
35507845 2022
11
Choline deficiency-related multi-omics characteristics are susceptible factors for chemotherapy-induced thrombocytopenia. 62
35248699 2022
12
Choline deficiency: Is it being recognized? 62
34862116 2022
13
Differential metabolism of choline supplements in adult volunteers. 62
34287673 2022
14
Medicinal Formula Huazhi-Rougan Attenuates Non-Alcoholic Steatohepatitis Through Enhancing Fecal Bile Acid Excretion in Mice. 62
35721143 2022
15
Tanshinone IIA Ameliorates Nonalcoholic Steatohepatitis in Mice by Modulating Neutrophil Extracellular Traps and Hepatocyte Apoptosis. 62
36091584 2022
16
Mild Choline Deficiency and MTHFD1 Synthetase Deficiency Interact to Increase Incidence of Developmental Delays and Defects in Mice. 62
35011003 2021
17
Zonarol Protected Liver from Methionine- and Choline-Deficient Diet-Induced Nonalcoholic Fatty Liver Disease in a Mouse Model. 62
34684455 2021
18
Resolution of severe hepatosteatosis in a cystic fibrosis patient with multifactorial choline deficiency: A case report. 62
34217074 2021
19
Understanding Choline Bioavailability and Utilization: First Step Toward Personalizing Choline Nutrition. 62
34392687 2021
20
Polymorphisms in SLC44A1 are associated with cognitive improvement in children diagnosed with fetal alcohol spectrum disorder: an exploratory study of oral choline supplementation. 62
33876196 2021
21
Salvia-Nelumbinis naturalis extract protects mice against MCD diet-induced steatohepatitis via activation of colonic FXR-FGF15 pathway. 62
33865013 2021
22
Choline in cystic fibrosis: relations to pancreas insufficiency, enterohepatic cycle, PEMT and intestinal microbiota. 62
32797252 2021
23
Two methods for assessment of choline status in a randomized crossover study with varying dietary choline intake in people: isotope dilution MS of plasma and in vivo single-voxel magnetic resonance spectroscopy of liver. 62
33668062 2021
24
Effects of dietary choline on liver lipid composition, liver histology and plasma biochemistry of juvenile yellowtail kingfish (Seriola lalandi). 62
32943119 2021
25
Role of Choline in Ocular Diseases. 62
33946979 2021
26
[Role of 1, 25-dihydroxyvitamin D3 in liver lipid metabolism induced by methionine-choline-deficient diet in rats]. 62
33685086 2021
27
Functional Expression of Choline Transporters in Human Neural Stem Cells and Its Link to Cell Proliferation, Cell Viability, and Neurite Outgrowth. 62
33672580 2021
28
Liver choline metabolism and gene expression in choline-deficient mice offspring differ with gender. 62
33604639 2021
29
Insufficient dietary choline aggravates disease severity in a mouse model of Citrobacter rodentium-induced colitis. 62
32792032 2021
30
Unravelling the metabolic alterations of liver damage induced by thirdhand smoke. 62
33197790 2021
31
Deciphering the Effective Constituents and Mechanisms of Portulaca oleracea L. for Treating NASH via Integrating Bioinformatics Analysis and Experimental Pharmacology. 62
35126150 2021
32
In silico Gene Set and Pathway Enrichment Analyses Highlight Involvement of Ion Transport in Cholinergic Pathways in Autism: Rationale for Nutritional Intervention. 62
33958984 2021
33
TNF-Like Ligand 1 Aberrance Aggravates Nonalcoholic Steatohepatitis via M1 Macrophage Polarization. 62
35003513 2021
34
Molecular and Functional Analysis of Choline Transporters and Antitumor Effects of Choline Transporter-Like Protein 1 Inhibitors in Human Pancreatic Cancer Cells. 62
32707889 2020
35
Dietary Choline Supplementation Attenuates High-Fat-Diet-Induced Hepatocellular Carcinoma in Mice. 62
31851339 2020
36
Antagonizing circRNA_002581-miR-122-CPEB1 axis alleviates NASH through restoring PTEN-AMPK-mTOR pathway regulated autophagy. 62
32054840 2020
37
Protein kinase C promotes choline transporter‑like protein 1 function via improved cell surface expression in immortalized human hepatic cells. 62
31974614 2020
38
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. 62
32158763 2020
39
Adenovirus‑mediated overexpression of bone morphogenetic protein‑9 promotes methionine choline deficiency‑induced non‑alcoholic steatohepatitis in non‑obese mice. 62
31322255 2019
40
Adiposity May Moderate the Link Between Choline Intake and Non-alcoholic Fatty Liver Disease. 62
31305223 2019
41
Betaine modulates oxidative stress, inflammation, apoptosis, autophagy, and Akt/mTOR signaling in methionine-choline deficiency-induced fatty liver disease. 62
30689995 2019
42
Methionine-Choline Deprivation Impairs Adult Hippocampal Neurogenesis in C57BL/6 Mice. 62
30990755 2019
43
Choline and choline-related nutrients in regular and preterm infant growth. 62
30298207 2019
44
Choline Supplementation in Cystic Fibrosis-The Metabolic and Clinical Impact. 62
30889905 2019
45
Homocysteine supplementation ameliorates steatohepatitis induced by a choline-deficient diet in mice. 62
30048033 2019
46
Feasibility and Stability of Liver Biopsy before Treatment for Preclinical Nonalcoholic Fatty Liver Studies. 62
30636945 2019
47
Modulation of Tetrachloroethylene-Associated Kidney Effects by Nonalcoholic Fatty Liver or Steatohepatitis in Male C57BL/6J Mice. 62
30202895 2019
48
Development and validation of a quantitative choline food frequency questionnaire for use with drinking and non-drinking pregnant women in Cape Town, South Africa. 62
30466439 2018
49
Evaluation of polyherbal formulation and synthetic choline chloride on choline deficiency model in broilers: implications on zootechnical parameters, serum biochemistry and liver histopathology. 62
29642669 2018
50
Effect of Phyllanthus emblica L. fruit on methionine and choline-deficiency diet-induced nonalcoholic steatohepatitis. 62
30249323 2018

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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.98 SREBF1 SLC44A5 SLC44A2 SLC44A1 PPARA PEMT
2
Show member pathways
12.64 SLC44A5 SLC44A2 SLC44A1 PEMT DGAT2
4
Show member pathways
11.43 MTR MTHFR MTHFD1 DNMT1 BHMT
5 11.33 SREBF1 PPARA NR1H4 INS
6
Show member pathways
11.29 MTR CHDH BHMT
7 11.07 PEMT SLC44A1 SLC44A2 SLC44A5
8
Show member pathways
10.98 SLC44A1 CHDH BHMT
9 10.79 INS GPT
10 10.79 MTR DNMT1 BHMT
11 10.75 SREBF1 PPARA
12 10.68 SREBF1 NR1H4
13 10.68 PEMT MTHFR DNMT1 CHDH BHMT
14 10.58 MTR MTHFR MTHFD1
15 10.46 MTR MTHFR
16
Show member pathways
10.27 MTR BHMT

GO Terms for Choline Deficiency Disease

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.99 PEMT MTR DNMT1 BHMT
2 intracellular receptor signaling pathway GO:0030522 9.95 SREBF1 PPARA NR1H4
3 regulation of fatty acid metabolic process GO:0019217 9.86 SREBF1 PPARA
4 cellular triglyceride homeostasis GO:0035356 9.85 NR1H4 DGAT2
5 positive regulation of insulin receptor signaling pathway GO:0046628 9.85 NR1H4 INS IGF2
6 methionine metabolic process GO:0006555 9.83 MTHFR MTHFD1
7 cellular response to bile acid GO:1903413 9.8 NR1H4 GPBAR1
8 positive regulation of gluconeogenesis GO:0045722 9.8 PPARA GPT DGAT2
9 choline catabolic process GO:0042426 9.73 SLC44A1 CHDH
10 fatty acid homeostasis GO:0055089 9.73 NR1H4 INS DGAT2
11 regulation of lipid storage GO:0010883 9.71 SREBF1 PPARA
12 lipid localization GO:0010876 9.71 PPARA SREBF1
13 S-adenosylmethionine metabolic process GO:0046500 9.63 MTHFR BHMT
14 choline transport GO:0015871 9.63 SLC44A1 SLC44A2 SLC44A5
15 phosphatidylcholine biosynthetic process GO:0006656 9.56 SLC44A5 SLC44A2 SLC44A1 PEMT
16 methionine biosynthetic process GO:0009086 9.23 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 nuclear receptor activity GO:0004879 9.8 SREBF1 PPARA NR1H4
2 methyltransferase activity GO:0008168 9.56 PEMT MTR DNMT1 BHMT
3 bile acid receptor activity GO:0038181 9.26 NR1H4 GPBAR1
4 S-methyltransferase activity GO:0008172 9.16 MTR BHMT
5 choline transmembrane transporter activity GO:0015220 9.1 SLC44A5 SLC44A2 SLC44A1

Sources for Choline Deficiency Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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