MCID: GNT167
MIFTS: 32

Genetic Obesity

Categories: Endocrine diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Genetic Obesity

MalaCards integrated aliases for Genetic Obesity:

Name: Genetic Obesity 58 36

Classifications:

Orphanet: 58  
Rare endocrine diseases


External Ids:

KEGG 36 H02106
ICD10 via Orphanet 33 E66.8
Orphanet 58 ORPHA77828

Summaries for Genetic Obesity

KEGG : 36 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 syndromic obesity and leptin deficiency or dysfunction. An important gene associated with Genetic Obesity is LEP (Leptin), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Thermogenesis. Affiliated tissues include skeletal muscle, adipocyte and endothelial, 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 126)
# Related Disease Score Top Affiliating Genes
1 syndromic obesity 30.1 LEPR LEP
2 leptin deficiency or dysfunction 29.7 LEPR LEP IGF1
3 alstrom syndrome 29.7 LEP CEP290
4 body mass index quantitative trait locus 11 29.5 LEPR LEPQTL1 LEP IGF1
5 pseudohypoparathyroidism 29.5 LEP IGF1
6 hypothalamic obesity 29.5 LEPR LEP IGF1
7 glucose intolerance 29.5 LEPR LEP IGF1
8 bardet-biedl syndrome 29.4 LEPR LEP CEP290
9 hyperinsulinism 29.2 LEPR LEPQTL1 LEP IGF1
10 non-alcoholic fatty liver disease 29.2 LEPR LEP IGF1
11 prader-willi syndrome 29.1 LEPR LEPQTL1 LEP IGF1
12 diabetes mellitus 28.8 PTEN LEPR LEP IGF1
13 type 2 diabetes mellitus 28.1 PTEN LEPR LEPQTL1 LEP IGF1
14 body mass index quantitative trait locus 4 10.3
15 body mass index quantitative trait locus 10 10.3
16 body mass index quantitative trait locus 7 10.3
17 body mass index quantitative trait locus 12 10.3
18 body mass index quantitative trait locus 14 10.3
19 body mass index quantitative trait locus 18 10.3
20 body mass index quantitative trait locus 19 10.3
21 body mass index quantitative trait locus 8 10.3
22 body mass index quantitative trait locus 9 10.3
23 lipoblastoma 10.2 LEPR LEP
24 central precocious puberty 10.1 LEP IGF1
25 skin tag 10.0 LEP IGF1
26 intracranial hypertension, idiopathic 10.0 LEP IGF1
27 pigmentation disease 10.0 LEP IGF1
28 adermatoglyphia 10.0 LEP IGF1
29 apnea, obstructive sleep 10.0 LEP IGF1
30 adult syndrome 10.0 LEP IGF1
31 myoma 10.0 LEPR LEP
32 acanthosis nigricans 10.0 LEP IGF1
33 persistent fetal circulation syndrome 10.0 LEP IGF1
34 anovulation 10.0 LEP IGF1
35 female breast cancer 10.0 LEP IGF1
36 disorder of sexual development 10.0 LEP IGF1
37 short bowel syndrome 10.0 LEP IGF1
38 muscle hypertrophy 10.0 LEP IGF1
39 aromatase excess syndrome 10.0 LEP IGF1
40 abdominal obesity-metabolic syndrome 1 10.0 LEPR LEP
41 amenorrhea 10.0 LEP IGF1
42 uterine benign neoplasm 10.0 PTEN IGF1
43 reproductive organ benign neoplasm 10.0 PTEN IGF1
44 central nervous system benign neoplasm 10.0 PTEN IGF1
45 fibromyalgia 10.0 LEP IGF1
46 autism 6 10.0 LEPQTL1 LEP
47 thyroid gland disease 10.0 LEP IGF1
48 obesity-hypoventilation syndrome 10.0 LEPQTL1 LEP
49 berardinelli-seip congenital lipodystrophy 9.9 LEPQTL1 LEP
50 tuberous sclerosis 2 9.9 PTEN IGF1

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 9.73 IGF1 LEP LEPR PTEN
2 limbs/digits/tail MP:0005371 9.71 IGF1 LEP LEPR PTEN
3 liver/biliary system MP:0005370 9.67 CEP290 LEP LEPR PTEN
4 renal/urinary system MP:0005367 9.65 CEP290 IGF1 LEP LEPR PTEN
5 neoplasm MP:0002006 9.62 IGF1 LEP LEPR PTEN
6 reproductive system MP:0005389 9.55 CEP290 IGF1 LEP LEPR PTEN
7 respiratory system MP:0005388 9.35 CEP290 IGF1 LEP LEPR PTEN
8 skeleton MP:0005390 9.02 CEP290 IGF1 LEP LEPR PTEN

Drugs & Therapeutics for Genetic Obesity

Search Clinical Trials , NIH Clinical Center for Genetic Obesity

Genetic Tests for Genetic Obesity

Anatomical Context for Genetic Obesity

MalaCards organs/tissues related to Genetic Obesity:

40
Skeletal Muscle, Adipocyte, Endothelial, Brain, Pancreas, Hypothalamus, Pituitary

Publications for Genetic Obesity

Articles related to Genetic Obesity:

(show top 50) (show all 389)
# Title Authors PMID Year
1
Lipocalin 13 enhances insulin secretion but is dispensable for systemic metabolic control. 61
33536239 2021
2
Benefits of multidisciplinary care in Prader-Willi syndrome. 61
33724138 2021
3
Clinical management of patients with genetic obesity during COVID-19 pandemic: position paper of the ESE Growth & Genetic Obesity COVID-19 Study Group and Rare Endo-ERN main thematic group on Growth and Obesity. 61
33512658 2021
4
Independent and combined associations between fast-food outlet exposure and genetic risk for obesity: a population-based, cross-sectional study in the UK. 61
33588846 2021
5
Class A1 scavenger receptor prevents obesity-associated blood pressure elevation through suppressing overproduction of vascular endothelial growth factor B in macrophages. 61
32044963 2021
6
Experimental models of metabolic and alcoholic fatty liver disease. 61
33505147 2021
7
Unilateral section of the superior ovarian nerve induces first ovulation in the Zucker fatty (fa/fa) rat. 61
33017581 2021
8
MECHANISMS IN ENDOCRINOLOGY: Update on treatments for patients with genetic obesity. 61
33107433 2020
9
Impact of Genetic Variations and Epigenetic Mechanisms on the Risk of Obesity. 61
33261141 2020
10
Angiopoietin-like 8 (ANGPTL8) as a potential predictor of NAFLD in paediatric patients with Prader-Willi Syndrome. 61
33067796 2020
11
Bardet-Biedl syndrome and related disorders in Japan. 61
32451492 2020
12
Fat-Free Mass Is Better Related to Serum Uric Acid Than Metabolic Homeostasis in Prader-Willi Syndrome. 61
32854398 2020
13
Leptin-Mediated Changes in the Human Metabolome. 61
32392278 2020
14
Obesity and genetics. 61
32658169 2020
15
Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders. 61
32729070 2020
16
Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity. 61
31650404 2020
17
Delivery of phosphatidylethanolamine blunts stress in hepatoma cells exposed to elevated palmitate by targeting the endoplasmic reticulum. 61
33563941 2020
18
Adenosine accumulation causes metabolic disorders in testes and associates with lower testosterone level in obese mice. 61
32026564 2020
19
Delivery of phosphatidylethanolamine blunts stress in hepatoma cells exposed to elevated palmitate by targeting the endoplasmic reticulum. 61
32123584 2020
20
Differential contribution of Nox1, Nox2 and Nox4 to kidney vascular oxidative stress and endothelial dysfunction in obesity. 61
31563085 2020
21
Causal Inference for Genetic Obesity, Cardiometabolic Profile and COVID-19 Susceptibility: A Mendelian Randomization Study. 61
33262790 2020
22
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center. 61
32384097 2020
23
Adipocyte-specific deletion of IL-6 does not attenuate obesity-induced weight gain or glucose intolerance in mice. 61
31386565 2019
24
Mendelian non-syndromic obesity. 61
31577261 2019
25
Genetics of lipedema: new perspectives on genetic research and molecular diagnoses. 61
31298310 2019
26
A toddler with a novel LEPR mutation. 61
30778850 2019
27
A comprehensive diagnostic approach to detect underlying causes of obesity in adults. 61
30821060 2019
28
Association between genetic obesity susceptibility and mother-reported eating behaviour in children up to 5 years. 61
30702799 2019
29
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. 61
30048591 2019
30
Genetic obesity increases pancreatic expression of mitochondrial proteins which regulate cholesterol efflux in BRIN-BD11 insulinoma cells. 61
30819824 2019
31
Extensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity. 61
31216558 2019
32
Increased brain age in adults with Prader-Willi syndrome. 61
30658944 2019
33
Tracing the effect of the melanocortin-4 receptor pathway in obesity: study design and methodology of the TEMPO registry. 61
31239751 2019
34
Genetics of Obesity. 61
31588542 2019
35
Hippocampal brain-derived neurotrophic factor determines recruitment of anatomically connected networks after stress in diabetic mice. 61
30098276 2018
36
ROHHAD Syndrome, a Rare Cause of Hypothalamic Obesity: Report of Two Cases 61
29553042 2018
37
Genetic obesity: next-generation sequencing results of 1230 patients with obesity. 61
29970488 2018
38
p53 Functions in Adipose Tissue Metabolism and Homeostasis. 61
30181511 2018
39
Finding treatable genetic obesity: strategies for success. 61
29771759 2018
40
Obesity-induced overexpression of miRNA-24 regulates cholesterol uptake and lipid metabolism by targeting SR-B1. 61
29787826 2018
41
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. 61
29699923 2018
42
Enoyl coenzyme A hydratase 1 protects against high-fat-diet-induced hepatic steatosis and insulin resistance. 61
29526751 2018
43
Genetic factors in sleep-disordered breathing. 61
29548648 2018
44
A Transcriptomic Signature of the Hypothalamic Response to Fasting and BDNF Deficiency in Prader-Willi Syndrome. 61
29590610 2018
45
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. 61
29364302 2018
46
Genetically Obese Human Gut Microbiota Induces Liver Steatosis in Germ-Free Mice Fed on Normal Diet. 61
30079055 2018
47
Dipeptidyl-Peptidase 4 Inhibitor Sitagliptin Ameliorates Hepatic Insulin Resistance by Modulating Inflammation and Autophagy in ob/ob Mice. 61
30123267 2018
48
Pyruvate induces torpor in obese mice. 61
29311303 2018
49
Metabolic biomarkers and gallstone disease - a population-based study. 61
28799434 2017
50
Dietary effects of Raphanus sativus cv Sango on lipid and oxysterols accumulation in rat brain: A lipidomic study on a non-genetic obesity model. 61
28539223 2017

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:

36
# 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

Cellular components related to Genetic Obesity according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.02 PTEN LEPR LEP IGF1 CEP290

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.75 PTEN LEP IGF1
2 negative regulation of apoptotic process GO:0043066 9.74 PTEN LEP IGF1
3 angiogenesis GO:0001525 9.61 PTEN LEPR LEP
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.58 LEP IGF1
5 response to nutrient GO:0007584 9.56 PTEN LEP
6 phagocytosis GO:0006909 9.55 LEPR LEP
7 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.54 LEP IGF1
8 negative regulation of autophagy GO:0010507 9.52 LEPR LEP
9 response to activity GO:0014823 9.51 PTEN LEP
10 protein kinase B signaling GO:0043491 9.49 PTEN IGF1
11 T cell differentiation GO:0030217 9.48 LEPR LEP
12 phosphatidylinositol 3-kinase signaling GO:0014065 9.46 PTEN IGF1
13 energy reserve metabolic process GO:0006112 9.4 LEPR LEP
14 cellular response to leptin stimulus GO:0044320 9.37 PTEN LEP
15 leptin-mediated signaling pathway GO:0033210 9.32 LEPR LEP
16 sexual reproduction GO:0019953 9.26 LEPR LEP
17 bone mineralization involved in bone maturation GO:0035630 9.16 LEP IGF1
18 bone growth GO:0098868 8.96 LEPR LEP
19 regulation of bone remodeling GO:0046850 8.62 LEPR LEP

Sources for Genetic Obesity

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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