MCID: GNT167
MIFTS: 35

Genetic Obesity

Categories: Endocrine diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Genetic Obesity

MalaCards integrated aliases for Genetic Obesity:

Name: Genetic Obesity 59 37

Classifications:

Orphanet: 59  
Rare endocrine diseases


External Ids:

KEGG 37 H02106
ICD10 via Orphanet 34 E66.8
Orphanet 59 ORPHA77828

Summaries for Genetic Obesity

KEGG : 37
Obesity predisposes to many diseases. It has a very heterogeneous phenotypic expression and the molecular mechanisms involved in its development are diverse. Although environmental factors are important, genes also have a significant role in its pathogenesis. Several genes that are involved in monogenic, syndromic and polygenic obesity, have been identified.

MalaCards based summary : Genetic Obesity is related to hyperinsulinism and hyperglycemia. An important gene associated with Genetic Obesity is IGF1 (Insulin Like Growth Factor 1), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Thermogenesis. The drugs Liraglutide and Aluminum hydroxide, magnesium hydroxide, simethicone drug combination have been mentioned in the context of this disorder. Affiliated tissues include liver, adipocyte and brain, and related phenotypes are adipose tissue and limbs/digits/tail

Related Diseases for Genetic Obesity

Diseases related to Genetic Obesity via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 hyperinsulinism 30.4 LEP IGF1
2 hyperglycemia 30.0 LEP IGF1
3 insulin-like growth factor i 29.5 LEP IGF1
4 fatty liver disease 29.1 LEPR LEP
5 hypothyroidism 29.1 LEP IGF1
6 body mass index quantitative trait locus 11 28.6 LEPR LEPQTL1 LEP IGF1
7 glucose intolerance 28.3 LEPR LEPQTL1 LEP IGF1
8 diabetes mellitus, noninsulin-dependent 28.2 LEPR LEPQTL1 LEP IGF1
9 prader-willi syndrome 28.1 LEPR LEPQTL1 LEP IGF1
10 body mass index quantitative trait locus 9 10.3
11 body mass index quantitative trait locus 8 10.3
12 body mass index quantitative trait locus 4 10.3
13 body mass index quantitative trait locus 10 10.3
14 body mass index quantitative trait locus 7 10.3
15 body mass index quantitative trait locus 12 10.3
16 body mass index quantitative trait locus 14 10.3
17 body mass index quantitative trait locus 18 10.3
18 body mass index quantitative trait locus 19 10.3
19 body mass index quantitative trait locus 20 10.3
20 hypertriglyceridemia, familial 10.1
21 hypercholesterolemia, familial, 1 10.1
22 autism 6 10.0 LEPQTL1 LEP
23 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.0 LEPQTL1 LEP
24 obesity-hypoventilation syndrome 10.0 LEPQTL1 LEP
25 berardinelli-seip congenital lipodystrophy 10.0 LEPQTL1 LEP
26 endocrine pancreas disease 10.0 LEP IGF1
27 pancreas disease 10.0 LEP IGF1
28 protein-energy malnutrition 9.9 LEP IGF1
29 anovulation 9.9 LEP IGF1
30 leptin deficiency or dysfunction 9.9
31 acanthosis nigricans 9.9 LEP IGF1
32 nutritional deficiency disease 9.9 LEP IGF1
33 vascular disease 9.9
34 muscle hypertrophy 9.9 LEP IGF1
35 glucose metabolism disease 9.8 LEP IGF1
36 fatty liver disease, nonalcoholic 1 9.8
37 polycystic ovary syndrome 9.8 LEP IGF1
38 leptin receptor deficiency 9.7
39 atrial fibrillation 9.7
40 non-alcoholic steatohepatitis 9.7
41 lipid metabolism disorder 9.7
42 insulinoma 9.7
43 lymphopenia 9.7
44 diabetes mellitus 9.7
45 hypothalamic obesity 9.7
46 rapidly involuting congenital hemangioma 9.7
47 lipoblastoma 9.7 LEPR LEP
48 severe pre-eclampsia 9.6 LEPR LEP
49 eating disorder 9.6 LEPR LEP
50 pseudohypoparathyroidism, type ia 9.6

Graphical network of the top 20 diseases related to Genetic Obesity:



Diseases related to Genetic Obesity

Symptoms & Phenotypes for Genetic Obesity

MGI Mouse Phenotypes related to Genetic Obesity:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.33 IGF1 LEP LEPR
2 limbs/digits/tail MP:0005371 9.13 IGF1 LEP LEPR
3 neoplasm MP:0002006 8.8 IGF1 LEP LEPR

Drugs & Therapeutics for Genetic Obesity

Drugs for Genetic Obesity (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Liraglutide Approved 204656-20-2 44147092
2 Aluminum hydroxide, magnesium hydroxide, simethicone drug combination
3 Antioxidants
4 Protective Agents
5 TEMPO
6 Hormones
7 Hormone Antagonists
8 Incretins
9 Hormones, Hormone Substitutes, and Hormone Antagonists
10 Hypoglycemic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Regression of Fatty Heart by Valsartan Therapy Withdrawn NCT00745953 Phase 4 Valsartan;Hydrochlorothiazide
2 The TEMPO (Tracing the Effect of the MC4 Pathway in Obesity) Registry Involving Variants in Hypothalamic Genes Upstream or Downstream From the Melanocortin-4 Receptor (MC4R) Recruiting NCT03479437
3 Implementation of a National Register of Children and Adults Presenting Prader-Willi Syndrome Recruiting NCT02829684
4 Vanderbilt Childhood Obesity Registry Recruiting NCT02957916
5 Investigation of the Metabolic Effects of 3mg Liraglutide on Patients With Overweight or Obesity Recruiting NCT03885297 Saxenda

Search NIH Clinical Center for Genetic Obesity

Genetic Tests for Genetic Obesity

Anatomical Context for Genetic Obesity

MalaCards organs/tissues related to Genetic Obesity:

41
Liver, Adipocyte, Brain, Skeletal Muscle, Heart, Thyroid, Small Intestine

Publications for Genetic Obesity

Articles related to Genetic Obesity:

(show top 50) (show all 365)
# Title Authors PMID Year
1
Adipocyte specific deletion of IL-6 does not attenuate obesity-induced weight gain or glucose intolerance in mice. 38
31386565 2019
2
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses. 38
31298310 2019
3
A comprehensive diagnostic approach to detect underlying causes of obesity in adults. 38
30821060 2019
4
Extensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity. 38
31216558 2019
5
A toddler with a novel LEPR mutation. 38
30778850 2019
6
Association between genetic obesity susceptibility and mother-reported eating behaviour in children up to 5 years. 38
30702799 2019
7
Genetic obesity increases pancreatic expression of mitochondrial proteins which regulate cholesterol efflux in BRIN-BD11 insulinoma cells. 38
30819824 2019
8
Insights into the Allosteric Mechanism of Setmelanotide (RM-493) as a Potent and First-in-Class Melanocortin-4 Receptor (MC4R) Agonist To Treat Rare Genetic Disorders of Obesity through an in Silico Approach. 38
30048591 2019
9
Tracing the effect of the melanocortin-4 receptor pathway in obesity: study design and methodology of the TEMPO registry. 38
31239751 2019
10
Increased brain age in adults with Prader-Willi syndrome. 38
30658944 2019
11
Hippocampal brain-derived neurotrophic factor determines recruitment of anatomically connected networks after stress in diabetic mice. 38
30098276 2018
12
ROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two Cases 38
29553042 2018
13
Genetic obesity: next-generation sequencing results of 1230 patients with obesity. 38
29970488 2018
14
p53 Functions in Adipose Tissue Metabolism and Homeostasis. 38
30181511 2018
15
Finding treatable genetic obesity: strategies for success. 38
29771759 2018
16
Obesity-induced overexpression of miRNA-24 regulates cholesterol uptake and lipid metabolism by targeting SR-B1. 38
29787826 2018
17
Discovery of dimethyl pent-4-ynoic acid derivatives, as potent and orally bioavailable DGAT1 inhibitors that suppress body weight in diet-induced mouse obesity model. 38
29699923 2018
18
Enoyl coenzyme A hydratase 1 protects against high-fat-diet-induced hepatic steatosis and insulin resistance. 38
29526751 2018
19
Genetic factors in sleep-disordered breathing. 38
29548648 2018
20
A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome. 38
29590610 2018
21
Effects of a combined intervention with a lentil protein hydrolysate and a mixed training protocol on the lipid metabolism and hepatic markers of NAFLD in Zucker rats. 38
29364302 2018
22
Genetically Obese Human Gut Microbiota Induces Liver Steatosis in Germ-Free Mice Fed on Normal Diet. 38
30079055 2018
23
Dipeptidyl-Peptidase 4 Inhibitor Sitagliptin Ameliorates Hepatic Insulin Resistance by Modulating Inflammation and Autophagy in ob/ob Mice. 38
30123267 2018
24
Pyruvate induces torpor in obese mice. 38
29311303 2018
25
Metabolic biomarkers and gallstone disease - a population-based study. 38
28799434 2017
26
FTO genotype and weight status among preadolescents: Assessing the mediating effects of obesogenic appetitive traits. 38
28712975 2017
27
Dietary effects of Raphanus sativus cv Sango on lipid and oxysterols accumulation in rat brain: A lipidomic study on a non-genetic obesity model. 38
28539223 2017
28
Engineering brown fat into skeletal muscle using ultrasound-targeted microbubble destruction gene delivery in obese Zucker rats: Proof of concept design. 38
28762248 2017
29
Long-term effects of bariatric surgery in patients with obesity and chromosome 16 p11.2 microdeletion. 38
28600117 2017
30
Obesity-induced discrepancy between contractile and metabolic phenotypes in slow- and fast-twitch skeletal muscles of female obese Zucker rats. 38
28522764 2017
31
Response by Chatterjee et al to Letter Regarding Article, "Genetic Obesity and the Risk of Atrial Fibrillation: Causal Estimates From Mendelian Randomization". 38
28739818 2017
32
Letter by Koh Regarding Article, "Genetic Obesity and the Risk of Atrial Fibrillation: Causal Estimates from Mendelian Randomization". 38
28739817 2017
33
Genetic Obesity Risk and Attenuation Effect of Physical Fitness in Mexican-Mestizo Population: a Case-Control Study. 38
28294290 2017
34
High aminopeptidase A activity contributes to blood pressure control in ob/ob mice by AT2 receptor-dependent mechanism. 38
27940965 2017
35
Genetic Obesity and the Risk of Atrial Fibrillation: Causal Estimates from Mendelian Randomization. 38
27974350 2017
36
Obesity-induced endoplasmic reticulum stress suppresses nuclear factor-Y expression. 38
27837431 2017
37
Interactome of Obesity: Obesidome : Genetic Obesity, Stress Induced Obesity, Pathogenic Obesity Interaction. 38
28971462 2017
38
[Genetic obesity: new diagnostic options]. 38
28351432 2017
39
A cafeteria diet triggers intestinal inflammation and oxidative stress in obese rats. 38
28132653 2017
40
Deactivation of the left dorsolateral prefrontal cortex in Prader-Willi syndrome after meal consumption. 38
27121248 2016
41
Farnesoid X Receptor Signaling Shapes the Gut Microbiota and Controls Hepatic Lipid Metabolism. 38
27822554 2016
42
FADD is a key regulator of lipid metabolism. 38
27357657 2016
43
Effects of pterostilbene in brown adipose tissue from obese rats. 38
28243863 2016
44
Targeting hepatic TRAF1-ASK1 signaling to improve inflammation, insulin resistance, and hepatic steatosis. 38
26860405 2016
45
Diet-induced and mono-genetic obesity alter volatile organic compound signature in mice. 38
26860833 2016
46
Genetic Rodent Models of Obesity-Associated Ovarian Dysfunction and Subfertility: Insights into Polycystic Ovary Syndrome. 38
27375552 2016
47
Hepatocyte TRAF3 promotes insulin resistance and type 2 diabetes in mice with obesity. 38
26909311 2015
48
Intestine-selective farnesoid X receptor inhibition improves obesity-related metabolic dysfunction. 38
26670557 2015
49
Dehydroepiandrosterone-enhanced dual specificity protein phosphatase (DDSP) prevents diet-induced and genetic obesity. 38
26523513 2015
50
Role of Gut Microbiota in Liver Disease. 38
26447960 2015

Variations for Genetic Obesity

Expression for Genetic Obesity

Search GEO for disease gene expression data for Genetic Obesity.

Pathways for Genetic Obesity

Pathways related to Genetic Obesity according to KEGG:

37
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080
2 Thermogenesis hsa04714
3 Regulation of lipolysis in adipocytes hsa04923
4 PPAR signaling pathway hsa03320

GO Terms for Genetic Obesity

Biological processes related to Genetic Obesity according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of MAPK cascade GO:0043410 9.55 LEP IGF1
2 glucose homeostasis GO:0042593 9.54 LEPR LEP
3 positive regulation of cold-induced thermogenesis GO:0120162 9.52 LEPR LEP
4 cholesterol metabolic process GO:0008203 9.51 LEPR LEP
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.49 LEP IGF1
6 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.48 LEP IGF1
7 phagocytosis GO:0006909 9.46 LEPR LEP
8 negative regulation of autophagy GO:0010507 9.43 LEPR LEP
9 T cell differentiation GO:0030217 9.4 LEPR LEP
10 energy reserve metabolic process GO:0006112 9.37 LEPR LEP
11 sexual reproduction GO:0019953 9.32 LEPR LEP
12 leptin-mediated signaling pathway GO:0033210 9.26 LEPR LEP
13 regulation of bone remodeling GO:0046850 9.16 LEPR LEP
14 bone mineralization involved in bone maturation GO:0035630 8.96 LEP IGF1
15 bone growth GO:0098868 8.62 LEPR LEP

Molecular functions related to Genetic Obesity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 LEP IGF1

Sources for Genetic Obesity

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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