BMIQ20
MCID: BDY021
MIFTS: 53

Body Mass Index Quantitative Trait Locus 20 (BMIQ20)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases
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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 28 5
Obesity, Resistance to 57 5
Melanocortin 4 Receptor Deficiency 57
Mc4r Deficiency 57
Obesity 57
Bmiq20 57

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
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


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 08-Dec-2022)

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 leptin deficiency or dysfunction. An important gene associated with Body Mass Index Quantitative Trait Locus 20 is MC4R (Melanocortin 4 Receptor). The drugs Vildagliptin and Lactitol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, liver and brain, 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 2456)
# Related Disease Score Top Affiliating Genes
1 body mass index quantitative trait locus 11 12.1
2 leptin deficiency or dysfunction 11.9
3 body mass index quantitative trait locus 19 11.9
4 body mass index quantitative trait locus 8 11.9
5 body mass index quantitative trait locus 12 11.9
6 body mass index quantitative trait locus 14 11.9
7 body mass index quantitative trait locus 4 11.9
8 body mass index quantitative trait locus 9 11.8
9 body mass index quantitative trait locus 7 11.8
10 body mass index quantitative trait locus 18 11.8
11 body mass index quantitative trait locus 10 11.8
12 leptin receptor deficiency 11.8
13 abdominal obesity-metabolic syndrome 1 11.6
14 obesity, early-onset, with adrenal insufficiency and red hair 11.6
15 obesity-hypoventilation syndrome 11.6
16 intellectual developmental disorder, x-linked, syndromic, wilson-turner type 11.5
17 cohen syndrome 11.5
18 abdominal obesity-metabolic syndrome 3 11.5
19 mehmo syndrome 11.5
20 proprotein convertase 1/3 deficiency 11.5
21 abdominal obesity-metabolic syndrome 4 11.5
22 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.5
23 morbid obesity and spermatogenic failure 11.5
24 abdominal obesity-metabolic syndrome quantitative trait locus 2 11.4
25 momo syndrome 11.4
26 type 2 diabetes mellitus 11.4
27 chops syndrome 11.4
28 spastic paraplegia, intellectual disability, nystagmus, and obesity 11.4
29 coenzyme q10 deficiency, primary, 2 11.4
30 chung-jansen syndrome 11.4
31 obesity, hyperphagia, and developmental delay 11.4
32 retinal dystrophy and obesity 11.3
33 non-alcoholic fatty liver disease 11.3
34 hypothalamic obesity 11.3
35 fatty liver disease 11.3
36 hydrocephalus obesity hypogonadism 11.3
37 obesity due to sim1 deficiency 11.3
38 coloboma-obesity-hypogenitalism-mental retardation syndrome 11.3
39 aniridia - ptosis - intellectual disability - familial obesity 11.3
40 rohhad 11.3
41 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 11.3
42 prader-willi syndrome 11.3
43 prediabetes syndrome 11.3
44 severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency 11.3
45 camera-marugo-cohen syndrome 11.2
46 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 11.2
47 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 11.2
48 ayazi syndrome 11.2
49 glucose intolerance 11.2
50 short stature, brachydactyly, impaired intellectual development, and seizures 11.2

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 30 HP:0001513
2 hyperinsulinemia 30 HP:0000842
3 increased bone mineral density 30 HP:0011001
4 tall stature 30 HP:0000098
5 polyphagia 30 HP:0002591

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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 934)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
2
Lactitol Approved, Investigational Phase 4 585-86-4 157355
3
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6 9578005
4
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
5
Indapamide Approved Phase 4 26807-65-8 3702
6
Insulin lispro Approved Phase 4 133107-64-9 16132438
7
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560
8
Insulin aspart Approved Phase 4 116094-23-6 16132418
9
Hydroxychloroquine Approved Phase 4 118-42-3 3652
10
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
11
Cyproterone acetate Approved, Investigational Phase 4 427-51-0 9880
12
Tolnaftate Approved, Investigational, Vet_approved Phase 4 2398-96-1 5510
13
Phentermine Approved, Illicit Phase 4 122-09-8 4771
14
Rosiglitazone Approved, Investigational Phase 4 122320-73-4, 155141-29-0 77999
15
Coal tar Approved Phase 4 8007-45-2
16
Loperamide Approved Phase 4 53179-11-6 3955
17
Heparin, bovine Approved, Investigational, Withdrawn Phase 4 9005-49-6 22833565 9812414 772
18
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
19
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
20
Calcium carbonate Approved, Investigational Phase 4 471-34-1
21
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
22 Tomato Approved Phase 4
23
Dapagliflozin Approved Phase 4 461432-26-8 9887712
24
Infliximab Approved Phase 4 170277-31-3
25
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
26
Saxagliptin Approved Phase 4 361442-04-8 11243969
27
Ethinylestradiol Approved Phase 4 57-63-6 5991
28
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
29
Moxifloxacin Approved, Investigational Phase 4 186826-86-8, 354812-41-2, 151096-09-2 152946
30
Desflurane Approved Phase 4 57041-67-5 42113
31
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
32
Apixaban Approved Phase 4 503612-47-3 10182969
33
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
34 Orange Approved Phase 4
35
Drospirenone Approved Phase 4 67392-87-4 68873
36
Glyburide Approved Phase 4 10238-21-8 3488
37
Atorvastatin Approved Phase 4 134523-00-5 60823
38
Risedronic acid Approved, Investigational Phase 4 105462-24-6 5245
39
Memantine Approved, Investigational Phase 4 41100-52-1, 19982-08-2 4054
40
Cyclophosphamide Approved, Investigational Phase 4 50-18-0, 6055-19-2 2907
41
Letrozole Approved, Investigational Phase 4 112809-51-5 3902
42
Galantamine Approved Phase 4 357-70-0, 1953-04-4 9651
43
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
44
Anidulafungin Approved, Investigational Phase 4 166663-25-8 166548
45
Chenodeoxycholic acid Approved Phase 4 474-25-9 10133
46
Bismuth subsalicylate Approved, Vet_approved Phase 4 14882-18-9 53629521 16682734
47
Clarithromycin Approved Phase 4 81103-11-9 84029
48
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
49
Nadroparin Approved, Investigational Phase 4
50
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456 5824

Interventional clinical trials:

(show top 50) (show all 8962)
# Name Status NCT ID Phase Drugs
1 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
2 Prevention and Control of Obesity in Primary School Children in Tehran Unknown status NCT02082080 Phase 4
3 A Study of the Pharmacokinetics of Dexmedetomidine in Morbid Obesity. Unknown status NCT01864187 Phase 4 Dexmedetomidine
4 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
5 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
6 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
7 The Therapeutic Effect of Catgut Embedding in Obesity-A Randomized, Double-blind, Placebo-controlled Clinical Trial Unknown status NCT02276235 Phase 4
8 Trial Evaluating Effectiveness of Contrave (Naltrexone HCl / Bupropion HCl) for Weight Maintenance in Adults With BMI ≥ 27 Kg/m2, After 6 Month Intensive Behavior Modification Program: Contrave Obesity Trials (COR) Weight Maintenance Study Unknown status NCT04589130 Phase 4 Contrave 8Mg-90Mg Extended-Release Tablet;Placebo
9 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
10 The Effect of Obesity in Dexmedetomidine Metabolic Clearance Unknown status NCT02557867 Phase 4 Dexmedetomidine
11 Treatment of Obesity With Topiramate in Patients With Polycystic Ovary Syndrome: a Double-blind Placebo-controlled Clinical Trial Unknown status NCT04453306 Phase 4 Topiramate;Placebo
12 Effect and Safety of Benaglutide or Metformin in Patients With Simple Obesity Who Have Inadequate Weight Control :A Randomized, Open, Controlled and Single-site Clinical Trail Unknown status NCT03593668 Phase 4 Metformin;Benaglutide
13 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
14 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)
15 Correlation of Postoperative VAS Values and Body Mass Index in Patients Undergoing Abdominal Surgery: A Clinical Trial Unknown status NCT02017314 Phase 4 Morphine
16 Prospective Randomized Study of Effects of Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Sleeve Gastrectomy Unknown status NCT00667706 Phase 4
17 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
18 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
19 Effect of Docosahexaenoic Acid Supplementation on Microbiome in Obese ChiLdrEn. The DAMOCLE Study Unknown status NCT04151758 Phase 4 Docosahexaenoic Acid Supplementation
20 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
21 Preoperative Carbohydrate Loading in Bariatric Surgery - Randomized Clinical Trail Unknown status NCT04486079 Phase 4
22 Effect of POSTbiotics Supplementation on Microbiome in OBese Children: the POST-OB Study Unknown status NCT04151823 Phase 4 Vitamin D3;Immunofos
23 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
24 Gut Hormones as Mediators of Different Weight Loss Responses After Roux-en-Y Gastric Bypass Unknown status NCT02374632 Phase 4
25 Could Gut Microbiome Contribute to the Therapeutic Effect of Liraglutide 3.0 mg? A Randomized Double Blind Placebo Controlled Trial Unknown status NCT04046822 Phase 4 Liraglutide 6 MG/ML [Saxenda];Placebo
26 Healthy Opportunities for Physical Activity and Nutrition (HOP'N) After-School Project Unknown status NCT01015599 Phase 4
27 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
28 International, Multi Centre, Open, Prospective, Randomized Study: Banded Versus Conventional Laparoscopic Roux-en-Y (GABY) Unknown status NCT01015469 Phase 4
29 The Effect of Vitamin A Supplementation on CD4+ T-cell Secretion in Obese Individuals Unknown status NCT01405352 Phase 4
30 Levonorgestrel-releasing Intrauterine Device Effects on Hemostatic and Arterial Function of Obese Women Unknown status NCT01320917 Phase 4
31 Endobarrier Treatment in Obese Subjects With T2DM Unknown status NCT01718457 Phase 4
32 Structured Exerise Training in Infertile Obese Patients Treated With Assisted Reproductive Techniques: a Randomized Controlled Trial Unknown status NCT01892111 Phase 4
33 Efficacy and Safety of Liraglutide-bolus (Liraglutide Plus Prandial Insulin) Versus Glargine-bolus Therapy in Overweight / Obese Patients With Uncontrolled Type 2 Diabetes (LiraGooD)--A Multicenter Randomized Controlled Study Unknown status NCT03087032 Phase 4 Liraglutide;insulin glargine
34 Effects of Valsartan on Metabolic Syndrome in Patients With Hypertension Unknown status NCT00790946 Phase 4 Valsartan
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 Influence of Erythromycin on ad Libitum Food Intake and the Evaluation of Motilin in Food Timing in Healthy Volunteers and Patients Unknown status NCT03024879 Phase 4 Erythromycin;Saline
37 Study of Metabolic Effects of EndoBarrier Versus Intragastric Balloon in Obese Patients With Type 2 Diabetes. Unknown status NCT01848795 Phase 4
38 Beijing Chao-yang Hospital, Capital Medical University Unknown status NCT02583438 Phase 4 Saxagliptin (Bristol-Myers Squibb Company)
39 A 24-Week, National, Single-Centre, Open-Labelled, Randomised, Parallel-Group Trial Comparing Energy Expenditure With Insulin Detemir Versus NPH Insulin Using a Basal-Bolus Regimen With Insulin Aspart as the Mealtime Insulin in Subjects With Type 2 Diabetes Unknown status NCT00788840 Phase 4 Insulatard;Detemir
40 Randomisation to Endoluminal Intestinal Liner Alone Versus With Incretin Analogue in SustainEd Diabesity (REVISE-Diabesity) Unknown status NCT02055014 Phase 4 Liraglutide
41 Synergy Effect of the Appetite Hormone GLP-1 (LiragluTide) and Exercise on Maintenance of Weight Loss and Health After a Low Calorie Diet - the S-LiTE Randomized Trial Unknown status NCT04122716 Phase 4 Liraglutide
42 The Efficacy of a Once Weekly Glucagon-Like Peptide-1 Agonist on Body Weight/Composition and Metabolic Parameters in Persons With SCI Unknown status NCT03292315 Phase 4 Exenatide 2 MG Injection [Bydureon]
43 The Effect of Mirabegron on Brown Adipose Tissue in Healthy Young White Caucasian and South Asian Men Unknown status NCT03012113 Phase 4 Mirabegron;Placebo Oral Capsule
44 The Effect of Exenatide on Brown Adipose Tissue Activity and Energy Expenditure in Healthy Young Men Unknown status NCT03002675 Phase 4 Bydureon
45 Sildenafil Activates Browning of White Adipose and Improves Insulin Sensitivity in Human Adults Unknown status NCT02524184 Phase 4 sildenafil;placebo
46 The Effect of Hydroxychloroquine Sulphate on Hedonic Food Intake, Appetite-related Sensations and Gastrointestinal Hormone Release in Overweight Female Subjects Unknown status NCT04005781 Phase 4 Hydroxychloroquine sulphate;Placebo
47 The Effect of Hydroxychloroquine Sulphate on Hedonic Food Intake, Appetite-related Sensations and Gastrointestinal Hormone Release in Healthy Female Subjects Unknown status NCT04005768 Phase 4 Hydroxychloroquine Sulphate;Placebo
48 Metformin Treatment for Preventing Gestational Diabetes in High-risk Patients Unknown status NCT00883259 Phase 4 Metformin
49 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
50 A Pilot Study: Comparing Physiological Parameters and Outcome Variables Using Pressure Support Ventilation Versus Pressure Controlled Ventilation in Patients With Chronic Respiratory Failure Unknown status NCT00994552 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 28 MC4R

Anatomical Context for Body Mass Index Quantitative Trait Locus 20

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

MalaCards : Skeletal Muscle, Liver, Brain, Adipocyte, Heart, Breast, Bone

Publications for Body Mass Index Quantitative Trait Locus 20

Articles related to Body Mass Index Quantitative Trait Locus 20:

(show top 50) (show all 30077)
# Title Authors PMID Year
1
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity. 62 57 5
31002796 2019
2
Melanocortin-4 receptor gene variant I103 is negatively associated with obesity. 62 57 5
14973783 2004
3
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 62 57 5
12646665 2003
4
A frameshift mutation in MC4R associated with dominantly inherited human obesity. 62 57 5
9771698 1998
5
A frameshift mutation in human MC4R is associated with a dominant form of obesity. 62 57 5
9771699 1998
6
Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys. 57 5
15805150 2005
7
Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children. 57 5
11487744 2001
8
Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene. 62 5
25332687 2014
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. 62 57
19091795 2009
10
Attention deficit hyperactivity disorder in obese melanocortin-4-receptor (MC4R) deficient subjects: a newly described expression of MC4R deficiency. 62 5
18777518 2008
11
Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. 62 5
15486053 2005
12
A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans. 62 5
15126516 2004
13
Autosomal-dominant mode of inheritance of a melanocortin-4 receptor mutation in a patient with severe early-onset obesity is due to a dominant-negative effect caused by receptor dimerization. 62 5
14633860 2003
14
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. 62 5
12970296 2003
15
Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms. 62 5
12588803 2003
16
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. 62 5
12499395 2003
17
Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. 62 5
10199800 1999
18
Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred. 57
30068297 2018
19
Eating Behavior, Low-Frequency Functional Mutations in the Melanocortin-4 Receptor (MC4R) Gene, and Outcomes of Bariatric Operations: A 6-Year Prospective Study. 5
27222505 2016
20
Clinical and functional relevance of melanocortin-4 receptor variants in obese German children. 5
23146882 2012
21
The cytosolic chaperone Hsc70 promotes traffic to the cell surface of intracellular retained melanocortin-4 receptor mutants. 5
21719532 2011
22
Pharmacological characterization of 30 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists, synthetic agonists, and the endogenous agouti-related protein antagonist. 5
20462274 2010
23
Modulation of blood pressure by central melanocortinergic pathways. 57
19092146 2009
24
Common genetic variation near MC4R is associated with waist circumference and insulin resistance. 57
18454146 2008
25
Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects. 5
16030156 2005
26
Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations. 57
15037865 2004
27
Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults. 5
14764818 2004
28
Deletion of codons 88-92 of the melanocortin-4 receptor gene: a novel deleterious mutation in an obese female. 5
14671178 2003
29
Mutationally induced disulfide bond formation within the third extracellular loop causes melanocortin 4 receptor inactivation in patients with obesity. 5
14504270 2003
30
Binge eating as a major phenotype of melanocortin 4 receptor gene mutations. 57
12646666 2003
31
Defective melanocortin 4 receptors in hyperphagia and morbid obesity. 57
12646673 2003
32
A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity. 5
11443223 2001
33
Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene. 57
10577903 1999
34
Identification and functional analysis of novel human melanocortin-4 receptor variants. 5
10078568 1999
35
Molecular screening of the human melanocortin-4 receptor gene: identification of a missense variant showing no association with obesity, plasma glucose, or insulin. 5
9267995 1997
36
Addiction-like behaviour towards high-fat high-sugar food predicts relapse propensity in both obesity prone and obesity resistant C57BL/6 J mice. 62
36209772 2023
37
Ultra-processed food consumption and adult obesity risk: a systematic review and dose-response meta-analysis. 62
34190668 2023
38
Impact of Age on Obesity-related Comorbidity After Gastric Bypass: A Cohort Study From the Scandinavian Obesity Surgery Registry (SOReg). 62
33856387 2022
39
CRTC1 deficiency, specifically in melanocortin-4 receptor-expressing cells, induces hyperphagia, obesity, and insulin resistance. 62
36349991 2022
40
Gut Microbiome and Its Impact on Obesity and Obesity-Related Disorders. 62
36469257 2022
41
Obstacles and opportunities in managing coexisting obesity and CKD: Report of a scientific workshop cosponsored by the National Kidney Foundation and The Obesity Society. 62
36268562 2022
42
Obesity and cardiovascular disease: mechanistic insights and management strategies. A joint position paper by the World Heart Federation and World Obesity Federation. 62
36007112 2022
43
Obstacles and Opportunities in Managing Coexisting Obesity and CKD: Report of a Scientific Workshop Cosponsored by the National Kidney Foundation and The Obesity Society. 62
36280397 2022
44
Relationship Between Moderate-to-Vigorous Physical Activity and Glycemia Among Young Adults with Type 1 Diabetes and Overweight or Obesity: Results from the Advancing Care for Type 1 Diabetes and Obesity Network (ACT1ON) Study. 62
35984327 2022
45
The impact of obesity on the outcome of severe SARS-CoV-2 ARDS in a high volume ECMO centre: ECMO and corticosteroids support the obesity paradox. 62
36219946 2022
46
Impairment of gut microbial biotin metabolism and host biotin status in severe obesity: effect of biotin and prebiotic supplementation on improved metabolism. 62
35017197 2022
47
Nutritional management of individuals with obesity and COVID-19: ESPEN expert statements and practical guidance. 62
34140163 2022
48
Obesity and dietary fat influence dopamine neurotransmission: exploring the convergence of metabolic state, physiological stress, and inflammation on dopaminergic control of food intake. 62
34184629 2022
49
MC4R Deficiency Causes Dysregulation of Postsynaptic Excitatory Synaptic Transmission as a Crucial Culprit for Obesity. 62
35926095 2022
50
Sex differences in the association of physical activity levels and vitamin D with obesity, sarcopenia, and sarcopenic obesity: a cross-sectional study. 62
36434519 2022

Variations for Body Mass Index Quantitative Trait Locus 20

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

5 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MC4R NM_005912.3(MC4R):c.307G>A (p.Val103Ile) SNV Protective
Pathogenic
218330 rs2229616 GRCh37: 18:58039276-58039276
GRCh38: 18:60372043-60372043
2 MC4R NM_005912.3(MC4R):c.947T>G (p.Ile316Ser) SNV Pathogenic
14331 rs121913564 GRCh37: 18:58038636-58038636
GRCh38: 18:60371403-60371403
3 MC4R NM_005912.3(MC4R):c.750_751del (p.Ile251fs) DEL Pathogenic
435828 rs13447339 GRCh37: 18:58038832-58038833
GRCh38: 18:60371599-60371600
4 MC4R NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr) SNV Pathogenic
14329 rs121913562 GRCh37: 18:58038771-58038771
GRCh38: 18:60371538-60371538
5 MC4R NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) SNV Pathogenic
14330 rs121913563 GRCh37: 18:58039060-58039060
GRCh38: 18:60371827-60371827
6 MC4R NM_005912.3(MC4R):c.407C>T (p.Ser136Phe) SNV Pathogenic
976165 rs1380965800 GRCh37: 18:58039176-58039176
GRCh38: 18:60371943-60371943
7 MC4R NM_005912.3(MC4R):c.268G>A (p.Asp90Asn) SNV Pathogenic
1301992 GRCh37: 18:58039315-58039315
GRCh38: 18:60372082-60372082
8 MC4R NM_005912.3(MC4R):c.831T>A (p.Cys277Ter) SNV Pathogenic
1323269 GRCh37: 18:58038752-58038752
GRCh38: 18:60371519-60371519
9 MC4R NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) SNV Pathogenic
499550 rs1555691402 GRCh37: 18:58039098-58039098
GRCh38: 18:60371865-60371865
10 MC4R NM_005912.3(MC4R):c.732_735dup (p.Thr246fs) DUP Pathogenic
14317 GRCh37: 18:58038847-58038848
GRCh38: 18:60371614-60371615
11 MC4R MC4R, 1-BP INS, 112A INSERT Pathogenic
14325 GRCh37:
GRCh38:
12 MC4R MC4R, 2-BP INS, 279GT INSERT Pathogenic
14327 GRCh37:
GRCh38:
13 MC4R NM_005912.3(MC4R):c.374_375inv (p.Ile125Lys) INVERS Pathogenic
14328 GRCh37: 18:58039208-58039209
GRCh38: 18:60371975-60371976
14 MC4R NM_005912.3(MC4R):c.265_279del (p.Ala89_Val93del) DEL Pathogenic
14335 GRCh37: 18:58039304-58039318
GRCh38: 18:60372071-60372085
15 MC4R NM_005912.3(MC4R):c.496G>A (p.Val166Ile) SNV Pathogenic
562224 rs942758928 GRCh37: 18:58039087-58039087
GRCh38: 18:60371854-60371854
16 MC4R NM_005912.3(MC4R):c.896C>A (p.Pro299His) SNV Pathogenic
36488 rs52804924 GRCh37: 18:58038687-58038687
GRCh38: 18:60371454-60371454
17 MC4R NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) SNV Pathogenic
36486 rs79783591 GRCh37: 18:58038777-58038777
GRCh38: 18:60371544-60371544
18 MC4R NM_005912.3(MC4R):c.811T>C (p.Cys271Arg) SNV Pathogenic
372803 rs1057517991 GRCh37: 18:58038772-58038772
GRCh38: 18:60371539-60371539
19 MC4R NM_005912.3(MC4R):c.656C>T (p.Ala219Val) SNV Pathogenic
14338 rs121913567 GRCh37: 18:58038927-58038927
GRCh38: 18:60371694-60371694
20 MC4R NM_005912.3(MC4R):c.185A>G (p.Asn62Ser) SNV Pathogenic
14334 rs121913566 GRCh37: 18:58039398-58039398
GRCh38: 18:60372165-60372165
21 MC4R NM_005912.3(MC4R):c.289A>G (p.Asn97Asp) SNV Pathogenic
14333 rs121913565 GRCh37: 18:58039294-58039294
GRCh38: 18:60372061-60372061
22 MC4R NM_005912.3(MC4R):c.861T>A (p.Tyr287Ter) SNV Pathogenic
14332 rs121917829 GRCh37: 18:58038722-58038722
GRCh38: 18:60371489-60371489
23 MC4R NM_005912.3(MC4R):c.508A>G (p.Ile170Val) SNV Pathogenic
14323 rs121913560 GRCh37: 18:58039075-58039075
GRCh38: 18:60371842-60371842
24 MC4R NM_005912.3(MC4R):c.305T>G (p.Ile102Ser) SNV Pathogenic
14322 rs121913559 GRCh37: 18:58039278-58039278
GRCh38: 18:60372045-60372045
25 MC4R NM_005912.3(MC4R):c.172A>T (p.Ser58Cys) SNV Pathogenic
14321 rs121913558 GRCh37: 18:58039411-58039411
GRCh38: 18:60372178-60372178
26 MC4R NM_005912.3(MC4R):c.148G>A (p.Val50Met) SNV Pathogenic
14320 rs121913557 GRCh37: 18:58039435-58039435
GRCh38: 18:60372202-60372202
27 MC4R NM_005912.3(MC4R):c.631_634del (p.Leu211fs) MICROSAT Pathogenic
14316 GRCh37: 18:58038949-58038952
GRCh38: 18:60371716-60371719
28 MC4R NM_005912.3(MC4R):c.821A>G (p.Asn274Ser) SNV Pathogenic
14324 rs121913561 GRCh37: 18:58038762-58038762
GRCh38: 18:60371529-60371529
29 MC4R NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) SNV Likely Pathogenic
14336 rs13447331 GRCh37: 18:58039203-58039203
GRCh38: 18:60371970-60371970
30 MC4R NM_005912.3(MC4R):c.466C>T (p.Gln156Ter) SNV Likely Pathogenic
562356 rs369841551 GRCh37: 18:58039117-58039117
GRCh38: 18:60371884-60371884
31 MC4R NM_005912.3(MC4R):c.542G>A (p.Gly181Asp) SNV Likely Pathogenic
976326 rs13447333 GRCh37: 18:58039041-58039041
GRCh38: 18:60371808-60371808
32 MC4R NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) SNV Likely Pathogenic
1284736 GRCh37: 18:58039090-58039090
GRCh38: 18:60371857-60371857
33 MC4R NM_005912.3(MC4R):c.494G>A (p.Arg165Gln) SNV Likely Pathogenic
327713 rs747681609 GRCh37: 18:58039089-58039089
GRCh38: 18:60371856-60371856
34 MC4R NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) DEL Likely Pathogenic
492860 rs770293321 GRCh37: 18:58039519-58039520
GRCh38: 18:60372286-60372287
35 MC4R NM_005912.3(MC4R):c.749T>A (p.Leu250Gln) SNV Likely Pathogenic
549551 rs772393451 GRCh37: 18:58038834-58038834
GRCh38: 18:60371601-60371601
36 MC4R NM_005912.3(MC4R):c.779C>A (p.Pro260Gln) SNV Likely Pathogenic
976250 rs1435358988 GRCh37: 18:58038804-58038804
GRCh38: 18:60371571-60371571
37 MC4R NM_005912.3(MC4R):c.258G>T (p.Leu86Phe) SNV Likely Pathogenic
1339319 GRCh37: 18:58039325-58039325
GRCh38: 18:60372092-60372092
38 MC4R NM_005912.3(MC4R):c.437A>T (p.Asp146Val) SNV Uncertain Significance
1339323 GRCh37: 18:58039146-58039146
GRCh38: 18:60371913-60371913
39 MC4R NM_005912.3(MC4R):c.847C>T (p.His283Tyr) SNV Uncertain Significance
1339317 GRCh37: 18:58038736-58038736
GRCh38: 18:60371503-60371503
40 MC4R NM_005912.3(MC4R):c.835T>C (p.Cys279Arg) SNV Uncertain Significance
1705372 GRCh37: 18:58038748-58038748
GRCh38: 18:60371515-60371515
41 MC4R NM_005912.3(MC4R):c.754G>A (p.Gly252Ser) SNV Uncertain Significance
1709503 GRCh37: 18:58038829-58038829
GRCh38: 18:60371596-60371596
42 MC4R NM_005912.2(MC4R):c.110A>T (p.Asp37Val) SNV Likely Benign
14319 rs13447325 GRCh37: 18:58039473-58039473
GRCh38: 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

Sources for Body Mass Index Quantitative Trait Locus 20

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
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48 NCI
49 NCIt
50 NDF-RT
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
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70 Tocris
71 UMLS
72 UMLS via Orphanet
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