BMIQ20
MCID: BDY021
MIFTS: 52

Body Mass Index Quantitative Trait Locus 20 (BMIQ20)

Categories: Bone diseases, Genetic 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 56 29 6
Melanocortin 4 Receptor Deficiency 56
Mc4r Deficiency 56
Obesity 56
Bmiq20 56

Characteristics:

OMIM:

56
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 : 56 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)

MalaCards based summary : Body Mass Index Quantitative Trait Locus 20, also known as melanocortin 4 receptor deficiency, is related to body mass index quantitative trait locus 11 and obesity, early-onset, with adrenal insufficiency and red hair. An important gene associated with Body Mass Index Quantitative Trait Locus 20 is MC4R (Melanocortin 4 Receptor). The drugs Citalopram and Oseltamivir have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and breast, 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 2055)
# Related Disease Score Top Affiliating Genes
1 body mass index quantitative trait locus 11 12.7
2 obesity, early-onset, with adrenal insufficiency and red hair 12.7
3 morbid obesity and spermatogenic failure 12.7
4 leptin deficiency or dysfunction 12.6
5 obesity-hypoventilation syndrome 12.6
6 genetic obesity 12.6
7 abdominal obesity-metabolic syndrome quantitative trait locus 2 12.6
8 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 12.5
9 obesity, hyperphagia, and developmental delay 12.5
10 abdominal obesity-metabolic syndrome 1 12.5
11 spastic paraplegia, intellectual disability, nystagmus, and obesity 12.5
12 retinal dystrophy and obesity 12.5
13 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 12.5
14 abdominal obesity-metabolic syndrome 3 12.5
15 hypothalamic obesity 12.5
16 hydrocephalus obesity hypogonadism 12.5
17 x-linked intellectual disability - short stature - obesity 12.4
18 abdominal obesity-metabolic syndrome 4 12.4
19 body mass index quantitative trait locus 19 12.4
20 leptin receptor deficiency 12.4
21 aniridia - ptosis - intellectual disability - familial obesity 12.3
22 obesity due to melanocortin 4 receptor deficiency 12.3
23 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 12.3
24 coloboma-obesity-hypogenitalism-mental retardation syndrome 12.3
25 obesity due to sim1 deficiency 12.3
26 proprotein convertase 1/3 deficiency 12.2
27 short stature-obesity syndrome 12.2
28 mental retardation, obesity, mandibular prognathism, and eye and skin anomalies 12.2
29 prolactin deficiency with obesity and enlarged testes 12.2
30 cohen syndrome 12.2
31 obesity due to congenital leptin resistance 12.2
32 severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiency 12.2
33 syndromic obesity 12.2
34 wilson-turner x-linked mental retardation syndrome 12.2
35 body mass index quantitative trait locus 9 12.2
36 body mass index quantitative trait locus 12 12.2
37 body mass index quantitative trait locus 4 12.2
38 midface hypoplasia, obesity, developmental delay, and neonatal hypotonia 12.2
39 body mass index quantitative trait locus 14 12.2
40 body mass index quantitative trait locus 8 12.2
41 body mass index quantitative trait locus 7 12.2
42 body mass index quantitative trait locus 18 12.2
43 mehmo syndrome 12.2
44 body mass index quantitative trait locus 10 12.1
45 genetic non-syndromic obesity 12.1
46 momo syndrome 12.1
47 chung-jansen syndrome 12.1
48 chops syndrome 12.1
49 genetic overgrowth/obesity syndrome 12.0
50 overgrowth/obesity syndrome 12.0

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:

56
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

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 1120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Citalopram Approved Phase 4 59729-33-8 2771
2
Oseltamivir Approved Phase 4 204255-11-8, 196618-13-0 65028
3
Enalapril Approved, Vet_approved Phase 4 75847-73-3 40466924 5362032
4
Enalaprilat Approved Phase 4 76420-72-9 6917719
5
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
6
Clonidine Approved Phase 4 4205-90-7 2803
7
Erythromycin Approved, Investigational, Vet_approved Phase 4 114-07-8 12560 441411
8
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
9
Metyrapone Approved, Investigational Phase 4 54-36-4 4174
10
Norfloxacin Approved Phase 4 70458-96-7 4539
11
Ticagrelor Approved Phase 4 274693-27-5 9871419
12
Suvorexant Approved, Investigational Phase 4 1030377-33-3
13
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
14
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
15
Dapsone Approved, Investigational Phase 4 80-08-0 2955
16
Caspofungin Approved Phase 4 162808-62-0, 179463-17-3 2826718 468682
17
Acetaminophen Approved Phase 4 103-90-2 1983
18
chenodeoxycholic acid Approved Phase 4 474-25-9 10133
19
Meropenem Approved, Investigational Phase 4 96036-03-2, 119478-56-7 441130 64778
20
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
21
Adenosine Approved, Investigational Phase 4 58-61-7 60961
22
Vildagliptin Approved, Investigational Phase 4 274901-16-5 6918537
23
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
24
Saxagliptin Approved Phase 4 361442-04-8 11243969
25
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
26
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
27
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
28
Norepinephrine Approved Phase 4 51-41-2 439260
29
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
30
Enoxaparin Approved Phase 4 9005-49-6 772
31
Pitavastatin Approved Phase 4 147526-32-7, 147511-69-1 6366718 5282452
32
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
33
Ibuprofen Approved Phase 4 15687-27-1 3672
34
Fluoxetine Approved, Vet_approved Phase 4 54910-89-3 3386
35
Sodium citrate Approved, Investigational Phase 4 68-04-2
36
Histamine Approved, Investigational Phase 4 51-45-6 774
37
Infliximab Approved Phase 4 170277-31-3
38
Mannitol Approved, Investigational Phase 4 69-65-8 6251 453
39
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
40
Pentoxifylline Approved, Investigational Phase 4 6493-05-6 4740
41
Nadroparin Approved, Investigational Phase 4
42
Memantine Approved, Investigational Phase 4 19982-08-2 4054
43
Tigecycline Approved Phase 4 220620-09-7 5282044
44
Lactulose Approved Phase 4 4618-18-2 11333
45
Cefuroxime Approved Phase 4 55268-75-2 5479529 5361202
46
Ethambutol Approved Phase 4 74-55-5 3279 14052
47
Ziprasidone Approved Phase 4 146939-27-7 60854
48
Atenolol Approved Phase 4 29122-68-7 2249
49
Bilberry Approved, Experimental Phase 4
50
Ferrous fumarate Approved Phase 4 141-01-5

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 Double Blinded Randomised Trial Comparing Metformin Versus Placebo in NASH Patients Receiving Bariatric Surgery for Obesity Unknown status NCT00134303 Phase 4 Metformin
2 Effect of Bile Acids and Bile Acid Sequstrants on GLP-1 Secretion After Roux-en-Y Gastric Bypass Unknown status NCT02952963 Phase 4 Chenodeoxycholic Acid;Colesevelam
3 The Effect of Obesity in Dexmedetomidine Metabolic Clearance Unknown status NCT02557867 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 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)
7 The Effect of Vitamin A Supplementation on CD4+ T-cell Secretion in Obese Individuals Unknown status NCT01405352 Phase 4
8 Effects of Chenodeoxycholic Acid and Colesevelam on GLP-1 Secretion, During a Meal, After Roux-en-Y Gastric Bypass Unknown status NCT02876484 Phase 4 Colesevelam;Chenodeoxycholic Acid
9 A Study of the Pharmacokinetics of Dexmedetomidine in Morbid Obesity. Unknown status NCT01864187 Phase 4 Dexmedetomidine
10 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
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 Levonorgestrel-releasing Intrauterine Device Effects on Hemostatic and Arterial Function of Obese Women Unknown status NCT01320917 Phase 4
13 Prevention and Control of Obesity in Primary School Children in Tehran Unknown status NCT02082080 Phase 4
14 Healthy Opportunities for Physical Activity and Nutrition (HOP'N) After-School Project Unknown status NCT01015599 Phase 4
15 Evaluation of Family Intervention Program for the Treatment of Overweight or Obese Children (Nereu Program): Randomized Clinical Trial Unknown status NCT01878994 Phase 4
16 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
17 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
18 Beijing Chao-yang Hospital, Capital Medical University Unknown status NCT02583438 Phase 4 Saxagliptin (Bristol-Myers Squibb Company)
19 Randomisation to Endoluminal Intestinal Liner Alone Versus With Incretin Analogue in SustainEd Diabesity (REVISE-Diabesity) Unknown status NCT02055014 Phase 4 Liraglutide
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 Correlation of Postoperative VAS Values and Body Mass Index in Patients Undergoing Abdominal Surgery: A Clinical Trial Unknown status NCT02017314 Phase 4 Morphine
22 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
23 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
24 The Therapeutic Effect of Catgut Embedding in Obesity-A Randomized, Double-blind, Placebo-controlled Clinical Trial Unknown status NCT02276235 Phase 4
25 Prospective, Randomized, Double - Blind, Placebo Controlled Trial of Dietary Modification in Conjunction With Probiotic Therapy on Clinical and Endocrinological Parameters as Well as Body Composition in Women With Polycystic Ovary Syndrome Unknown status NCT03325023 Phase 4
26 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
27 International, Multi Centre, Open, Prospective, Randomized Study: Banded Versus Conventional Laparoscopic Roux-en-Y (GABY) Unknown status NCT01015469 Phase 4
28 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
29 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"
30 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
31 Prospective Randomized Study of Effects of Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Sleeve Gastrectomy Unknown status NCT00667706 Phase 4
32 Gut Hormones as Mediators of Different Weight Loss Responses After Roux-en-Y Gastric Bypass Unknown status NCT02374632 Phase 4
33 The Effect of Exenatide on Brown Adipose Tissue Activity and Energy Expenditure in Healthy Young Men Unknown status NCT03002675 Phase 4 Bydureon
34 What is the Effects of Prokinetic Drug on the Blood Glucose in Type 2 Diabetes Patients: Mosapride Comparing Placebo Unknown status NCT02606617 Phase 4 Mosapride;Placebo
35 Prospective Randomized Trials of Gastric Bypass Surgery in Patients With Type II Diabetes Mellitus Unknown status NCT00540462 Phase 4
36 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
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 Sildenafil Activates Browning of White Adipose and Improves Insulin Sensitivity in Human Adults Unknown status NCT02524184 Phase 4 sildenafil;placebo
39 The Research About the Influence of Medical Interventions in the Period of Insulin Resistance on Prevalence of Abnormal Glucose Tolerance Unknown status NCT02502344 Phase 4 Metformin
40 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
41 Therapeutic Monitoring of Metformin in Women With Polycystic Ovary Syndrome Unknown status NCT01366391 Phase 4 Metformin
42 Changes in Central Aortic Pressure, Endothelial Function and Biomarkers in African Americans With Cardiometabolic Syndrome: Comparison of Amlodipine/Olmesartan Versus Hydrochlorothiazide/Losartan Unknown status NCT01271374 Phase 4 amlodipine and olmesartan;losartan and HCTZ
43 Determining the Minimal Effective Volume (MEAV95) for Interscalene Brachial Plexus Block for Surgical Anesthesia Unknown status NCT01703130 Phase 4
44 Influence of the Aromatase Inhibitor Letrozole on Heart and Liver Function in Obese Men Unknown status NCT02097680 Phase 4 Letrozole;Placebo
45 Effect of aSpirin Versus CilOstazol for Inhibition of Antiplatelet aggRegaTion in Type 2 DM Patients Unknown status NCT02933788 Phase 4 Cilostazol;Acetylsalicylic acid
46 A PROSPECTIVE, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED TRIAL OF THE SUPPLEMENTATION WITH KIOLIC® IN PATIENTS WITH DIAGNOSIS OF METABOLIC SYNDROME TO IMPROVE ENDOTHELIAL FUNCTION AND INFLAMMATORY STATE. "KYMES" Unknown status NCT01168700 Phase 4 aged garlic extract;Placebo
47 The ACT-OUT Trial: ACTivity OUTcomes Based on the Consumption of a High Carbohydrate or High Fat Diet in Patients With Metabolic Syndrome Unknown status NCT01357382 Phase 4
48 Study of Metabolic Effects of EndoBarrier Versus Intragastric Balloon in Obese Patients With Type 2 Diabetes. Unknown status NCT01848795 Phase 4
49 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
50 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

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

Anatomical Context for Body Mass Index Quantitative Trait Locus 20

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

40
Liver, Heart, Breast, Brain, Testes, Kidney, 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 30023)
# Title Authors PMID Year
1
Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity. 6 56
31002796 2019
2
Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. 56 6
12646665 2003
3
Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children. 6 56
11487744 2001
4
A frameshift mutation in MC4R associated with dominantly inherited human obesity. 6 56
9771698 1998
5
A frameshift mutation in human MC4R is associated with a dominant form of obesity. 6 56
9771699 1998
6
Defective melanocortin 4 receptors in hyperphagia and morbid obesity. 61 56
12646673 2003
7
Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study. 56
19091795 2009
8
Modulation of blood pressure by central melanocortinergic pathways. 56
19092146 2009
9
Common genetic variation near MC4R is associated with waist circumference and insulin resistance. 56
18454146 2008
10
Functional analyses of melanocortin-4 receptor mutations identified from patients with binge eating disorder and nonobese or obese subjects. 6
16030156 2005
11
Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys. 56
15805150 2005
12
Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity. 6
15486053 2005
13
Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations. 56
15037865 2004
14
A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans. 6
15126516 2004
15
Melanocortin-4 receptor gene variant I103 is negatively associated with obesity. 56
14973783 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. 56
12646666 2003
21
Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations. 6
12499395 2003
22
A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity. 6
11443223 2001
23
Phenotypes in three pedigrees with autosomal dominant obesity caused by haploinsufficiency mutations in the melanocortin-4 receptor gene. 56
10577903 1999
24
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
25
Depot-specific adipocyte-extracellular matrix metabolic crosstalk in murine obesity. 61
32272860 2020
26
Emotional eating in patients attending a specialist obesity treatment service. 61
32283188 2020
27
The common denominators of sleep, obesity, and psychopathology. 61
31835070 2020
28
Lipase Inhibitors for Obesity: A Review. 61
32485574 2020
29
Moderating effect of obesity on clinical outcomes in NOAC-treated atrial fibrillation patients or just an effect of obesity? 61
32505330 2020
30
Honey and obesity-related dysfunctions: a summary on health benefits. 61
32454412 2020
31
Potential role of aryl hydrocarbon receptor signaling in childhood obesity. 61
32302739 2020
32
Factors associated with overweight and obesity in preschool children. 61
32483960 2020
33
Breastfeeding and childhood obesity: A 12-country study. 61
32141229 2020
34
Obesity and impaired metabolic health in patients with COVID-19. 61
32327737 2020
35
Effect of obesity on chronic venous insufficiency treatment outcomes. 61
32335333 2020
36
Enzymatic preparation of chitooligosaccharides and their anti-obesity application. 61
32195627 2020
37
Improved gut microbiota profile in individuals with obesity taking statins. 61
32439977 2020
38
Childhood obesity and adult non-alcoholic fatty liver disease. 61
32064764 2020
39
Obesity is Associated with Severe Forms of COVID-19. 61
32314861 2020
40
Obesity Is a Risk Factor for Greater COVID-19 Severity. 61
32409499 2020
41
The role of epigenetics in the development of obesity. 61
32283053 2020
42
The association of obesity and severe dengue: possible pathophysiological mechanisms. 61
32413364 2020
43
Prevalence and factors associated with obesity among the oldest old. 61
32413689 2020
44
Adolescent Obesity and Early-Onset Type 2 Diabetes. 61
32321731 2020
45
Response to "The Future of Obesity Diagnostic Coding". 61
32515548 2020
46
Dietary approach to prevent obesity risk in Spina Bifida patients. 61
31863149 2020
47
Celiac Disease and Obesity: Is Bariatric Surgery an Option? 61
32314256 2020
48
Hypertension in obesity. 61
32398606 2020
49
The Future of Obesity Diagnostic Coding. 61
32568463 2020
50
Epigenetic Transgenerational Inheritance of Obesity Susceptibility. 61
32521235 2020

Variations for Body Mass Index Quantitative Trait Locus 20

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

6 (show all 22) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MC4R MC4R, 4-BP DEL, NT631deletion Pathogenic 14316
2 MC4R MC4R, 4-BP INS, NT732insertion Pathogenic 14317
3 MC4R NM_005912.3(MC4R):c.148G>A (p.Val50Met)SNV Pathogenic 14320 rs121913557 18:58039435-58039435 18:60372202-60372202
4 MC4R NM_005912.3(MC4R):c.172A>T (p.Ser58Cys)SNV Pathogenic 14321 rs121913558 18:58039411-58039411 18:60372178-60372178
5 MC4R NM_005912.3(MC4R):c.305T>G (p.Ile102Ser)SNV Pathogenic 14322 rs121913559 18:58039278-58039278 18:60372045-60372045
6 MC4R NM_005912.3(MC4R):c.508A>G (p.Ile170Val)SNV Pathogenic 14323 rs121913560 18:58039075-58039075 18:60371842-60371842
7 MC4R MC4R, 1-BP INS, 112Ainsertion Pathogenic 14325
8 MC4R MC4R, 4-BP DEL, 211CTCTdeletion Pathogenic 14326
9 MC4R MC4R, 2-BP INS, 279GTinsertion Pathogenic 14327
10 MC4R MC4R, ILE125LYSundetermined variant Pathogenic 14328
11 MC4R NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr)SNV Pathogenic 14329 rs121913562 18:58038771-58038771 18:60371538-60371538
12 MC4R NM_005912.3(MC4R):c.861T>A (p.Tyr287Ter)SNV Pathogenic 14332 rs121917829 18:58038722-58038722 18:60371489-60371489
13 MC4R NM_005912.3(MC4R):c.289A>G (p.Asn97Asp)SNV Pathogenic 14333 rs121913565 18:58039294-58039294 18:60372061-60372061
14 MC4R NM_005912.3(MC4R):c.185A>G (p.Asn62Ser)SNV Pathogenic 14334 rs121913566 18:58039398-58039398 18:60372165-60372165
15 MC4R MC4R, 15-BP DELdeletion Pathogenic 14335
16 MC4R NM_005912.3(MC4R):c.750_751del (p.Ile251fs)deletion Pathogenic 435828 rs13447339 18:58038832-58038833 18:60371599-60371600
17 MC4R NM_005912.3(MC4R):c.656C>T (p.Ala219Val)SNV Pathogenic 14338 rs121913567 18:58038927-58038927 18:60371694-60371694
18 MC4R NM_005912.3(MC4R):c.947T>G (p.Ile316Ser)SNV Likely pathogenic 14331 rs121913564 18:58038636-58038636 18:60371403-60371403
19 MC4R NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)SNV Conflicting interpretations of pathogenicity 14336 rs13447331 18:58039203-58039203 18:60371970-60371970
20 MC4R NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)SNV Uncertain significance 499550 rs1555691402 18:58039098-58039098 18:60371865-60371865
21 MC4R NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)SNV Uncertain significance 14330 rs121913563 18:58039060-58039060 18:60371827-60371827
22 MC4R NM_005912.3(MC4R):c.821A>G (p.Asn274Ser)SNV Uncertain significance 14324 rs121913561 18:58038762-58038762 18:60371529-60371529

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

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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68 SNOMED-CT via HPO
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