BMIQ20
MCID: BDY021
MIFTS: 49

Body Mass Index Quantitative Trait Locus 20 (BMIQ20)

Categories: Bone diseases, Genetic diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Body Mass Index Quantitative Trait Locus 20

MalaCards integrated aliases for Body Mass Index Quantitative Trait Locus 20:

Name: Body Mass Index Quantitative Trait Locus 20 57 29 6
Obesity, Resistance to 57 6
Melanocortin 4 Receptor Deficiency 57
Mc4r Deficiency 57
Obesity 57
Bmiq20 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
variable penetrance
mc4r deficiency is associated with severe early-onset obesity
gain-of-function mc4r variants are associated with resistance to obesity
variable associated features
increased body weight within 1st year of life in most patients
homozygotes have higher mean percentage body fat than heterozygotes


HPO:

31
body mass index quantitative trait locus 20:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



Summaries for Body Mass Index Quantitative Trait Locus 20

OMIM® : 57 Obesity due to mutation in the MC4R gene is the most common cause of monogenic obesity. Patients have early-onset severe obesity and hyperphagia (Farooqi et al., 2003). (618406) (Updated 05-Mar-2021)

MalaCards based summary : Body Mass Index Quantitative Trait Locus 20, also known as obesity, resistance to, is related to body mass index quantitative trait locus 11 and body mass index quantitative trait locus 19. An important gene associated with Body Mass Index Quantitative Trait Locus 20 is MC4R (Melanocortin 4 Receptor). The drugs Dalteparin and Clarithromycin have been mentioned in the context of this disorder. Affiliated tissues include liver, endothelial and bone, and related phenotypes are obesity and hyperinsulinemia

Related Diseases for Body Mass Index Quantitative Trait Locus 20

Diseases in the Body Mass Index Quantitative Trait Locus 11 family:

Body Mass Index Quantitative Trait Locus 9 Body Mass Index Quantitative Trait Locus 8
Body Mass Index Quantitative Trait Locus 1 Body Mass Index Quantitative Trait Locus 2
Body Mass Index Quantitative Trait Locus 3 Body Mass Index Quantitative Trait Locus 4
Body Mass Index Quantitative Trait Locus 10 Body Mass Index Quantitative Trait Locus 7
Body Mass Index Quantitative Trait Locus 5 Body Mass Index Quantitative Trait Locus 6
Body Mass Index Quantitative Trait Locus 12 Body Mass Index Quantitative Trait Locus 13
Body Mass Index Quantitative Trait Locus 14 Body Mass Index Quantitative Trait Locus 15
Body Mass Index Quantitative Trait Locus 18 Body Mass Index Quantitative Trait Locus 19
Body Mass Index Quantitative Trait Locus 20

Diseases related to Body Mass Index Quantitative Trait Locus 20 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1911)
# Related Disease Score Top Affiliating Genes
1 body mass index quantitative trait locus 11 12.0
2 body mass index quantitative trait locus 19 11.9
3 leptin deficiency or dysfunction 11.8
4 body mass index quantitative trait locus 4 11.8
5 body mass index quantitative trait locus 12 11.8
6 body mass index quantitative trait locus 9 11.8
7 body mass index quantitative trait locus 8 11.8
8 body mass index quantitative trait locus 7 11.8
9 body mass index quantitative trait locus 18 11.8
10 body mass index quantitative trait locus 14 11.8
11 body mass index quantitative trait locus 10 11.8
12 leptin receptor deficiency 11.5
13 cohen syndrome 11.5
14 obesity-hypoventilation syndrome 11.5
15 obesity, early-onset, with adrenal insufficiency and red hair 11.5
16 wilson-turner x-linked mental retardation syndrome 11.5
17 abdominal obesity-metabolic syndrome 3 11.5
18 mehmo syndrome 11.5
19 morbid obesity and spermatogenic failure 11.5
20 abdominal obesity-metabolic syndrome quantitative trait locus 2 11.5
21 proprotein convertase 1/3 deficiency 11.4
22 abdominal obesity-metabolic syndrome 1 11.4
23 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.4
24 obesity, hyperphagia, and developmental delay 11.4
25 abdominal obesity-metabolic syndrome 4 11.4
26 hypothalamic obesity 11.4
27 spastic paraplegia, intellectual disability, nystagmus, and obesity 11.4
28 momo syndrome 11.4
29 retinal dystrophy and obesity 11.4
30 chung-jansen syndrome 11.4
31 chops syndrome 11.4
32 genetic obesity 11.3
33 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 11.3
34 fatty liver disease 11.3
35 non-alcoholic fatty liver disease 11.3
36 hydrocephalus obesity hypogonadism 11.3
37 ayazi syndrome 11.3
38 rohhad 11.2
39 coenzyme q10 deficiency, primary, 2 11.2
40 x-linked intellectual disability - short stature - obesity 11.2
41 aniridia - ptosis - intellectual disability - familial obesity 11.2
42 type 2 diabetes mellitus 11.2
43 prader-willi syndrome 11.2
44 glucose intolerance 11.2
45 body mass index quantitative trait locus 1 11.2
46 polycystic ovary syndrome 11.2
47 eating disorder 11.2
48 alstrom syndrome 11.2
49 man1b1-cdg 11.1
50 carpenter syndrome 1 11.1

Graphical network of the top 20 diseases related to Body Mass Index Quantitative Trait Locus 20:



Diseases related to Body Mass Index Quantitative Trait Locus 20

Symptoms & Phenotypes for Body Mass Index Quantitative Trait Locus 20

Human phenotypes related to Body Mass Index Quantitative Trait Locus 20:

31
# Description HPO Frequency HPO Source Accession
1 obesity 31 HP:0001513
2 hyperinsulinemia 31 HP:0000842
3 increased bone mineral density 31 HP:0011001
4 tall stature 31 HP:0000098
5 polyphagia 31 HP:0002591

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal:
increased bone mineral density
increased bone mineral content

Growth Weight:
early-onset obesity
increased lean body mass

Cardiovascular Vascular:
relatively low blood pressure for degree of obesity
lower diastolic blood pressure (gain-of-function variants)

Endocrine Features:
hyperinsulinemia at rate disproportionate to the degree of obesity
increased risk of type 2 diabetes

Growth Height:
increased linear growth

Cardiovascular Heart:
lower increase in heart rate upon waking
lower heart rate during euglycemic hyperinsulinemia
increased risk of coronary artery disease
lower resting heart rate (gain-of-function variants)
reduced risk of coronary artery disease (gain-of-function variants)

Abdomen Gastrointestinal:
hyperphagia (decreases with age)

Clinical features from OMIM®:

618406 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Body Mass Index Quantitative Trait Locus 20 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 9.35 BRCA1
2 Decreased homologous recombination repair frequency GR00151-A-2 9.35 BRCA1
3 Decreased homologous recombination repair frequency GR00236-A-1 9.35 BRCA1
4 Decreased homologous recombination repair frequency GR00236-A-2 9.35 BRCA1
5 Decreased homologous recombination repair frequency GR00236-A-3 9.35 BRCA1
6 Increased homologous recombination repair frequency GR00236-A-1 8.62 MC4R
7 Increased homologous recombination repair frequency GR00236-A-2 8.62 MC4R

MGI Mouse Phenotypes related to Body Mass Index Quantitative Trait Locus 20:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.62 BRCA1 MC4R

Drugs & Therapeutics for Body Mass Index Quantitative Trait Locus 20

Drugs for Body Mass Index Quantitative Trait Locus 20 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 944)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dalteparin Approved Phase 4 9005-49-6
2
Clarithromycin Approved Phase 4 81103-11-9 84029
3
Bismuth subsalicylate Approved, Vet_approved Phase 4 14882-18-9 53629521
4
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
5
Ticagrelor Approved Phase 4 274693-27-5 9871419
6
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
7
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
8
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
9
Linagliptin Approved Phase 4 668270-12-0 10096344
10
Indapamide Approved Phase 4 26807-65-8 3702
11
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
12
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
13
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
14
Tolnaftate Approved, Investigational, Vet_approved Phase 4 2398-96-1 5510
15
Orlistat Approved, Investigational Phase 4 96829-58-2 3034010
16
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
17
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
18
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
19
Ziprasidone Approved Phase 4 146939-27-7 60854
20
Magnesium oxide Approved Phase 4 1309-48-4 14792
21
Atorvastatin Approved Phase 4 134523-00-5 60823
22
Fenofibrate Approved Phase 4 49562-28-9 3339
23
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
24
Levoleucovorin Approved, Investigational Phase 4 68538-85-2 149436
25
Meropenem Approved, Investigational Phase 4 96036-03-2, 119478-56-7 64778 441130
26
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
27
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
28
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
29
Calcium carbonate Approved, Investigational Phase 4 471-34-1
30
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
31
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
32
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
33
Repaglinide Approved, Investigational Phase 4 135062-02-1 65981
34
Losartan Approved Phase 4 114798-26-4 3961
35
Coal tar Approved Phase 4 8007-45-2
36
Ofloxacin Approved Phase 4 82419-36-1 4583
37
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
38
Bazedoxifene Approved, Investigational Phase 4 198481-32-2
39
Micafungin Approved, Investigational Phase 4 235114-32-6 3081921 477468
40
Tedizolid Approved, Investigational Phase 4 856866-72-3
41
Tedizolid phosphate Approved Phase 4 856867-55-5
42
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
43
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
44
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
45
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
46
Doxorubicin Approved, Investigational Phase 4 23214-92-8 31703
47
Lactitol Approved, Investigational Phase 4 585-86-4 157355
48
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
49
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
50
Memantine Approved, Investigational Phase 4 19982-08-2 4054

Interventional clinical trials:

(show top 50) (show all 7730)
# Name Status NCT ID Phase Drugs
1 Vitamin D Concentrations and Their Effect on Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4 Vitamin D drops;Placebo drops
2 Comparing the Efficacy of Two Frequently Used Doses of Enoxaparin for VTE Prophylaxis After Bariatric Surgery Unknown status NCT01970202 Phase 4 40mg Enoxaparin;60mg Enoxaparin
3 The Effect of Obesity in Dexmedetomidine Metabolic Clearance Unknown status NCT02557867 Phase 4 Dexmedetomidine
4 The Effect of Vitamin A Supplementation on CD4+ T-cell Secretion in Obese Individuals Unknown status NCT01405352 Phase 4
5 Weight Reduction Alone May Not be Sufficient to Maintain Disease Remission in Obese Patients With Psoriasis: a Randomized, Investigator-blinded Study Unknown status NCT01439425 Phase 4
6 International, Multi Centre, Open, Prospective, Randomized Study: Banded Versus Conventional Laparoscopic Roux-en-Y (GABY) Unknown status NCT01015469 Phase 4
7 Study of the Concentrations of Long Acting Morphine After Oral Absorption in Subjects Who Underwent Gastric Bypass (OBEMO 2) Unknown status NCT02641301 Phase 4 Sustained release morphine sulfate, 30 mg
8 Levonorgestrel-releasing Intrauterine Device Effects on Hemostatic and Arterial Function of Obese Women Unknown status NCT01320917 Phase 4
9 THE EFFECT OF HELICOBACTER PYLORI ERADICATION THERAPY TO GASTRIC WALL THICKNESS BEFORE THE LAPAROSCOPIC SLEEVE GASTRECTOMY Unknown status NCT03757650 Phase 4 Bismuth Subsalicylate
10 Double-blind Randomized Trial Using Oral Metformin Versus Placebo in the Treatment of Acanthosis Nigricans in Children With Obesity Unknown status NCT02438020 Phase 4 Metformin
11 Evaluation of the Effects of Laying Early (Between 12 and 16) a Gastric Band on the Prevention of Morbid Obesity in Late Adolescence. Randomized Checked Against Standard Management of Obesity in This Population. Unknown status NCT01700738 Phase 4
12 PRotective Effect on the Coronary Microcirculation of Patients With DIabetes by Clopidogrel or Ticagrelor Unknown status NCT02698618 Phase 4 Randomization
13 Early Detection of Atherosclerosis in the Primary Care Setting: a Randomized Trial to Assess the Efficacy of a Novel Strategy in the Primary Prevention of Cardiovascular Diseases. Unknown status NCT00734123 Phase 4 Simvastatin or Atorvastatin;Enalapril;Aspirin or clopidogrel;Rimonabant
14 Effect of aSpirin Versus CilOstazol for Inhibition of Antiplatelet aggRegaTion in Type 2 DM Patients Unknown status NCT02933788 Phase 4 Cilostazol;Acetylsalicylic acid
15 The Effect of Moxonidine and Regression of Early Target Organ Damage in Young Subjects With Abdominal Obesity and Hypertension: a Randomised, Double Blind, Active Comparator Clinical Trial Unknown status NCT01360710 Phase 4 Moxonidine;Irbesartan
16 Prevention and Control of Obesity in Primary School Children in Tehran Unknown status NCT02082080 Phase 4
17 A Study of the Pharmacokinetics of Dexmedetomidine in Morbid Obesity. Unknown status NCT01864187 Phase 4 Dexmedetomidine
18 Comparing Dexlansoprazole With Double-dose Lansoprazole to Achieve Sustained Symptomatic Response in Overweight and Obesity Patients With Reflux Esophagitis in Los Angeles Grades A & B Unknown status NCT02759393 Phase 4 Dexlansoprazole;Lansoprazole
19 Assessment of the Effect of Moxonidine and Diet on Cardiac, Renal and Endothelial Function in Young Subjects With Abdominal Obesity Unknown status NCT01180231 Phase 4 Moxonidine (Physiotens)
20 Double Blinded Randomised Trial Comparing Metformin Versus Placebo in NASH Patients Receiving Bariatric Surgery for Obesity Unknown status NCT00134303 Phase 4 Metformin
21 Effect of Saxagliptin on Body Fat , Glucose and Beta Cell Function in Patients With Newly Diagnosed Pre-Diabetes Mellitus and Obesity Unknown status NCT01960205 Phase 4 Saxagliptin;saxagliptin;metformin
22 The Therapeutic Effect of Catgut Embedding in Obesity-A Randomized, Double-blind, Placebo-controlled Clinical Trial Unknown status NCT02276235 Phase 4
23 Effect of Acarbose and Vildagliptin on Visceral Fat Distribution in Overweight and Obesity Patients With Newly Diagnosed Type 2 Diabetes Mellitus: A Randomized Control Study Unknown status NCT02999841 Phase 4 Acarbose;Vildagliptin
24 Healthy Opportunities for Physical Activity and Nutrition (HOP'N) After-School Project Unknown status NCT01015599 Phase 4
25 Laparoscopic Non Banded Vertical (Magenstrasse and Mill) Gastroplasty In Bariatric Surgery. Morbidity and Results on Weight Loss and Associated Co-morbidities Unknown status NCT02050477 Phase 4
26 Laparoscopic Roux-en-Y Gastric Bypass vs. Laparoscopic BPD-Duodenal Switch for Superobesity (BMI > 50 kg/m2)- A Randomized Clinical Trial Unknown status NCT00327912 Phase 4
27 Endobarrier Treatment in Obese Subjects With T2DM Unknown status NCT01718457 Phase 4
28 Correlation of Postoperative VAS Values and Body Mass Index in Patients Undergoing Abdominal Surgery: A Clinical Trial Unknown status NCT02017314 Phase 4 Morphine
29 Laparoscopic Bariatric Surgery: Impact of the Level of Neuromuscular Blockade on Surgical Conditions - Comparison Between Moderate and Deep Neuromuscular Blockade Unknown status NCT02118844 Phase 4 rocuronium
30 Prospective Randomized Study of Effects of Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Sleeve Gastrectomy Unknown status NCT00667706 Phase 4
31 Prospective, Pharmacokinetic Study for Determination of the Relationship Between Lean Body Weight and Anti-Xa Activity 4 Hours After Subcutaneous Injection of 5700 IU Nadroparin in Morbidly Obese Patients After Bariatric Surgery. Unknown status NCT02295150 Phase 4 Nadroparin
32 Gut Hormones as Mediators of Different Weight Loss Responses After Roux-en-Y Gastric Bypass Unknown status NCT02374632 Phase 4
33 Influence of the Aromatase Inhibitor Letrozole on Heart and Liver Function in Obese Men Unknown status NCT02097680 Phase 4 Letrozole;Placebo
34 HYpertension Therapy With Valsartan Versus EpleRenone for Obese Patients: A Randomized Clinical Trial Unknown status NCT03476616 Phase 4 Eplerenone (-based therapy) arm;Valsartan (-based therapy) arm
35 Evaluation of Family Intervention Program for the Treatment of Overweight or Obese Children (Nereu Program): Randomized Clinical Trial Unknown status NCT01878994 Phase 4
36 Study of Metabolic Effects of EndoBarrier Versus Intragastric Balloon in Obese Patients With Type 2 Diabetes. Unknown status NCT01848795 Phase 4
37 The Need of Dosing Adjustment for Simvastatin in Obese Patients Post Bariatric Surgery- Laparoscopic Sleeve Gastrectomy (LSG) Unknown status NCT03571802 Phase 4 Simvastatin
38 Heparin Management for Cardiopulmonary Bypass in Cardiac Surgery: A Prospective, Comparative and Randomized Study Evaluating a Dosage Based on the Ideal Body Weight in Obese Patients Unknown status NCT02675647 Phase 4 Heparin, IV route, based on patients body weights (UI/kg);Protamin administration
39 Effects of GLP-1 Receptor Agonist Treatment on Pulmonary Function and Quality of Life in Obese Patients With Chronic Obstructive Pulmonary Disease. Unknown status NCT03466021 Phase 4 Liraglutide;Placebo
40 Pharmacokinetic and Pharmacodynamic Evaluation of Linezolid Administered Intravenously in MRSA-positive, Morbidly Obese Patients With Pneumonia Unknown status NCT01805284 Phase 4 Linezolid
41 What is the Effects of Incretin on the Blood Pressure and Lipid in Overweight or Obese Diabetes Patients With Masked Hypertension: Liraglutide Plus Mitiglinide Comparing Metformin Plus Mitiglinide or Mitiglinide Alone(BLOOD STUDY) Unknown status NCT02503943 Phase 4 "Liraglutide" and "Mitiglinide";"Metformin" and "Mitiglinide";"Mitiglinide"
42 Ultrasonographic Modification of Liver Steatosis and Visceral Fat Induced by Treatment With Losartan and Simvastatin in Hypertensive Normocholesterolemic Obese Patients Unknown status NCT00669435 Phase 4 Losartan + Simvastatin;Amlodipine + Simvastatin
43 Structured Exerise Training in Infertile Obese Patients Treated With Assisted Reproductive Techniques: a Randomized Controlled Trial Unknown status NCT01892111 Phase 4
44 The Effects of Cortisol Blockade on Nutritional Sympathetic Nervous System Responsiveness in Overweight and Obese Subjects With Metabolic Syndrome Unknown status NCT01620684 Phase 4 metyrapone;placebo
45 Combined Effects of SGLT2 Inhibition and GLP-1 Receptor Agonism on Food Intake, Body Weight and Central Satiety and Reward Circuits in Obese T2DM Patients Unknown status NCT03361098 Phase 4 Dapagliflozin 10mg;Exenatide
46 Retroclavicular Approach vs Infraclavicular Approach for Brachial Plexus Block in Obese Unknown status NCT02990702 Phase 4 Bupivacaine
47 Oral Tramadol Versus Oral Celecoxib for Post-perineal Repair Analgesia After Spontaneous Vaginal Birth in Obese Women: A Randomised Controlled Trial Unknown status NCT03694873 Phase 4 Tramadol Hydrochloride;Celecoxib 200mg
48 The Effect of TRADJENTA ® (LINAGLIPTIN) on Inflammation, Oxidative Stress and Insulin Resistance in Obese Type 2 Diabetes Subjects Unknown status NCT02372630 Phase 4 Linagliptin;Placebo
49 Double-blind and Placebo-controlled Study on Intervention Effect of n-3 Fatty Acids on Glucose and Lipid Homeostasis Disorders in Obese/Diabetic Populations Unknown status NCT03708887 Phase 4 Low dose omega-3 fatty acid supplementation;High dose omega-3 fatty acid supplementation;Control drug
50 The Use of Antimicrobial Gauze in Pregnant Women Undergoing C-section With BMI >40 to Decrease Wound Complications by 6 Weeks postpartum--a Small Feasibility Study Unknown status NCT02882360 Phase 4

Search NIH Clinical Center for Body Mass Index Quantitative Trait Locus 20

Genetic Tests for Body Mass Index Quantitative Trait Locus 20

Genetic tests related to Body Mass Index Quantitative Trait Locus 20:

# Genetic test Affiliating Genes
1 Body Mass Index Quantitative Trait Locus 20 29 MC4R

Anatomical Context for Body Mass Index Quantitative Trait Locus 20

MalaCards organs/tissues related to Body Mass Index Quantitative Trait Locus 20:

40
Liver, Endothelial, Bone, Ovary, Skeletal Muscle, Skin, Brain

Publications for Body Mass Index Quantitative Trait Locus 20

Articles related to Body Mass Index Quantitative Trait Locus 20:

(show all 37)
# Title Authors PMID Year
1
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity. 6 57
31002796 2019
2
Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys. 6 57
15805150 2005
3
Melanocortin-4 receptor gene variant I103 is negatively associated with obesity. 57 6
14973783 2004
4
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 6 57
12646665 2003
5
Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children. 57 6
11487744 2001
6
A frameshift mutation in human MC4R is associated with a dominant form of obesity. 6 57
9771699 1998
7
A frameshift mutation in MC4R associated with dominantly inherited human obesity. 57 6
9771698 1998
8
Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred. 57
30068297 2018
9
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. 57
19091795 2009
10
Modulation of blood pressure by central melanocortinergic pathways. 57
19092146 2009
11
Common genetic variation near MC4R is associated with waist circumference and insulin resistance. 57
18454146 2008
12
Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects. 6
16030156 2005
13
Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. 6
15486053 2005
14
Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations. 57
15037865 2004
15
A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans. 6
15126516 2004
16
Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults. 6
14764818 2004
17
Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female. 6
14671178 2003
18
Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity. 6
12970296 2003
19
Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. 6
12588803 2003
20
Binge eating as a major phenotype of melanocortin 4 receptor gene mutations. 57
12646666 2003
21
Defective melanocortin 4 receptors in hyperphagia and morbid obesity. 57
12646673 2003
22
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. 6
12499395 2003
23
A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity. 6
11443223 2001
24
Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene. 57
10577903 1999
25
Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. 6
10199800 1999
26
Identification and functional analysis of novel human melanocortin-4 receptor variants. 6
10078568 1999
27
Molecular screening of the human melanocortin-4 receptor gene: identification of a missense variant showing no association with obesity, plasma glucose, or insulin. 6
9267995 1997
28
The moralization of obesity. 61
31377501 2019
29
Rational and design of an overfeeding protocol in constitutional thinness: Understanding the physiology, metabolism and genetic background of resistance to weight gain. 61
27424229 2016
30
From Obesity Resistance to Obesity Prediction and Prevention? 61
27554849 2016
31
Leptin into the rostral ventral lateral medulla (RVLM) augments renal sympathetic nerve activity and blood pressure. 61
25152707 2014
32
Role of leptin resistance in the development of obesity in older patients. 61
23869170 2013
33
Leanness of Lou/C rats does not require higher thermogenic capacity of brown adipose tissue. 61
21658398 2011
34
Conditioned place preferences (CPPs) to high-caloric "snack foods" in rat strains genetically prone vs. resistant to diet-induced obesity: resistance to naltrexone blockade. 61
17391743 2007
35
Lipid metabolism in hepatic steatosis. 61
15331068 2004
36
[Molecular defects in plasma membrane hormone receptors]. 61
11857909 2002
37
Experimental basis of obesity. 61
623636 1978

Variations for Body Mass Index Quantitative Trait Locus 20

ClinVar genetic disease variations for Body Mass Index Quantitative Trait Locus 20:

6 (show all 28)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MC4R NM_005912.3(MC4R):c.307G>A (p.Val103Ile) SNV protective 218330 rs2229616 18:58039276-58039276 18:60372043-60372043
2 MC4R NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) SNV Pathogenic 499550 rs1555691402 18:58039098-58039098 18:60371865-60371865
3 MC4R NM_005912.3(MC4R):c.542G>A (p.Gly181Asp) SNV Pathogenic 976326 18:58039041-58039041 18:60371808-60371808
4 MC4R NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr) SNV Pathogenic 14329 rs121913562 18:58038771-58038771 18:60371538-60371538
5 MC4R NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) SNV Pathogenic 14336 rs13447331 18:58039203-58039203 18:60371970-60371970
6 MC4R MC4R, 4-BP DEL, NT631 Deletion Pathogenic 14316
7 MC4R MC4R, 4-BP INS, NT732 Insertion Pathogenic 14317
8 MC4R MC4R, 1-BP INS, 112A Insertion Pathogenic 14325
9 MC4R MC4R, 4-BP DEL, 211CTCT Deletion Pathogenic 14326
10 MC4R MC4R, 2-BP INS, 279GT Insertion Pathogenic 14327
11 MC4R MC4R, ILE125LYS Variation Pathogenic 14328
12 MC4R MC4R, 15-BP DEL Deletion Pathogenic 14335
13 MC4R NM_005912.3(MC4R):c.148G>A (p.Val50Met) SNV Pathogenic 14320 rs121913557 18:58039435-58039435 18:60372202-60372202
14 MC4R NM_005912.3(MC4R):c.172A>T (p.Ser58Cys) SNV Pathogenic 14321 rs121913558 18:58039411-58039411 18:60372178-60372178
15 MC4R NM_005912.3(MC4R):c.305T>G (p.Ile102Ser) SNV Pathogenic 14322 rs121913559 18:58039278-58039278 18:60372045-60372045
16 MC4R NM_005912.3(MC4R):c.508A>G (p.Ile170Val) SNV Pathogenic 14323 rs121913560 18:58039075-58039075 18:60371842-60371842
17 MC4R NM_005912.3(MC4R):c.821A>G (p.Asn274Ser) SNV Pathogenic 14324 rs121913561 18:58038762-58038762 18:60371529-60371529
18 MC4R NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) SNV Pathogenic 14331 rs121913564 18:58038636-58038636 18:60371403-60371403
19 MC4R NM_005912.3(MC4R):c.861T>A (p.Tyr287Ter) SNV Pathogenic 14332 rs121917829 18:58038722-58038722 18:60371489-60371489
20 MC4R NM_005912.3(MC4R):c.289A>G (p.Asn97Asp) SNV Pathogenic 14333 rs121913565 18:58039294-58039294 18:60372061-60372061
21 MC4R NM_005912.3(MC4R):c.185A>G (p.Asn62Ser) SNV Pathogenic 14334 rs121913566 18:58039398-58039398 18:60372165-60372165
22 MC4R NM_005912.3(MC4R):c.750_751del (p.Ile251fs) Deletion Pathogenic 435828 rs13447339 18:58038832-58038833 18:60371599-60371600
23 MC4R NM_005912.3(MC4R):c.656C>T (p.Ala219Val) SNV Pathogenic 14338 rs121913567 18:58038927-58038927 18:60371694-60371694
24 MC4R NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) SNV Pathogenic 14330 rs121913563 18:58039060-58039060 18:60371827-60371827
25 MC4R NM_005912.3(MC4R):c.779C>A (p.Pro260Gln) SNV Likely pathogenic 976250 18:58038804-58038804 18:60371571-60371571
26 MC4R NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) SNV Likely pathogenic 562356 rs369841551 18:58039117-58039117 18:60371884-60371884
27 BRCA1 NM_007294.4(BRCA1):c.5275_5276delinsTG (p.Lys1759Trp) Indel Uncertain significance 188165 rs786204116 17:41209070-41209071 17:43057053-43057054
28 MC4R NM_005912.2(MC4R):c.110A>T (p.Asp37Val) SNV Likely benign 14319 rs13447325 18:58039473-58039473 18:60372240-60372240

Expression for Body Mass Index Quantitative Trait Locus 20

Search GEO for disease gene expression data for Body Mass Index Quantitative Trait Locus 20.

Pathways for Body Mass Index Quantitative Trait Locus 20

GO Terms for Body Mass Index Quantitative Trait Locus 20

Molecular functions related to Body Mass Index Quantitative Trait Locus 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 8.62 MC4R BRCA1

Sources for Body Mass Index Quantitative Trait Locus 20

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
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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