LEPRD
MCID: LPT006
MIFTS: 53

Leptin Receptor Deficiency (LEPRD)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Leptin Receptor Deficiency

MalaCards integrated aliases for Leptin Receptor Deficiency:

Name: Leptin Receptor Deficiency 57 42 73 71
Obesity Due to Leptin Receptor Gene Deficiency 42 58 28 5
Obesity, Morbid, Due to Leptin Receptor Deficiency 57 42
Leprd 57 73
Morbid Obesity Due to Leptin Receptor Deficiency 73
Congenital Deficiency of the Leptin Receptor 42
Leptin Receptor-Related Monogenic Obesity 42
Obesity, Morbid, Nonsyndromic 2 42
Deficiency, Leptin Receptor 38
Obesity, Morbid 57
Morbid Obesity 73

Characteristics:


Inheritance:

Leptin Receptor Deficiency: Autosomal recessive 57
Obesity Due to Leptin Receptor Gene Deficiency: Autosomal recessive 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset of severe hyperphagia and rapid weight gain from birth
bmi of males begins to decrease with onset of puberty
heterozygote lepr deficient individuals have increased fat mass


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


Summaries for Leptin Receptor Deficiency

MedlinePlus Genetics: 42 Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. The extreme hunger leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret.People with leptin receptor deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Affected individuals experience delayed puberty or do not go through puberty, and they may be unable to conceive children (infertile).

MalaCards based summary: Leptin Receptor Deficiency, also known as obesity due to leptin receptor gene deficiency, is related to morbid obesity and spermatogenic failure and non-alcoholic fatty liver disease. An important gene associated with Leptin Receptor Deficiency is LEPR (Leptin Receptor). The drugs Nadroparin and Octreotide have been mentioned in the context of this disorder. Affiliated tissues include liver, t cells and ovary, and related phenotypes are obesity and decreased serum leptin

UniProtKB/Swiss-Prot: 73 A rare disease characterized by normal levels of serum leptin, hyperphagia and severe obesity from an early age. Additional features include alterations in immune function, and delayed puberty due to hypogonadotropic hypogonadism.

OMIM®: 57 Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (summary by Dehghani et al., 2018). (614963) (Updated 08-Dec-2022)

Orphanet: 58 A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency.

Related Diseases for Leptin Receptor Deficiency

Diseases related to Leptin Receptor Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 605)
# Related Disease Score Top Affiliating Genes
1 morbid obesity and spermatogenic failure 11.2
2 non-alcoholic fatty liver disease 10.8
3 gastroesophageal reflux 10.8
4 body mass index quantitative trait locus 1 10.7
5 apnea, obstructive sleep 10.7
6 sleep apnea 10.7
7 enterocele 10.7
8 fatty liver disease 10.7
9 lipid metabolism disorder 10.7
10 abdominal obesity-metabolic syndrome 1 10.7
11 non-alcoholic steatohepatitis 10.6
12 liver disease 10.6
13 gallbladder disease 1 10.6
14 nutritional deficiency disease 10.6
15 esophagitis 10.6
16 pulmonary embolism 10.6
17 leptin deficiency or dysfunction 10.6
18 eating disorder 10.6
19 alcohol dependence 10.5
20 thrombophilia due to thrombin defect 10.5
21 respiratory failure 10.5
22 cholelithiasis 10.5
23 gastritis 10.5
24 encephalopathy 10.5
25 prader-willi syndrome 10.5
26 iron metabolism disease 10.5
27 fatty liver disease 1 10.5
28 rickets 10.5
29 hyperinsulinism 10.5
30 wernicke encephalopathy 10.5
31 bulimia nervosa 10.4
32 peptic esophagitis 10.4
33 nephrolithiasis, calcium oxalate 10.4
34 hypothyroidism 10.4
35 peritonitis 10.4
36 prediabetes syndrome 10.4
37 hernia, hiatus 10.4
38 intussusception 10.4
39 hyperparathyroidism 10.4
40 dumping syndrome 10.4
41 achalasia 10.4
42 obesity-hypoventilation syndrome 10.4
43 gestational diabetes 10.4
44 hypercholesterolemia, familial, 1 10.3
45 beriberi 10.3
46 osteoarthritis 10.3
47 49, xxxxy syndrome 10.3
48 charge syndrome 10.3
49 hereditary lymphedema i 10.3
50 pre-eclampsia 10.3

Graphical network of the top 20 diseases related to Leptin Receptor Deficiency:



Diseases related to Leptin Receptor Deficiency

Symptoms & Phenotypes for Leptin Receptor Deficiency

Human phenotypes related to Leptin Receptor Deficiency:

58 30 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 58 30 Obligate (100%) Obligate (100%)
HP:0001513
2 decreased serum leptin 58 30 Obligate (100%) Obligate (100%)
HP:0003292
3 aggressive behavior 30 Obligate (100%) HP:0000718
4 abnormal hypothalamus morphology 30 Obligate (100%) HP:0012286
5 primary amenorrhea 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000786
6 hyperinsulinemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000842
7 gynecomastia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000771
8 decreased testicular size 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008734
9 hypergonadotropic hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000815
10 decreased serum estradiol 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008214
11 polyphagia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002591
12 hypoplasia of the ovary 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008724
13 absence of secondary sex characteristics 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008187
14 decreased t cell activation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005419
15 decreased serum testosterone concentration 30 Hallmark (90%) HP:0040171
16 decreased proportion of cd4-positive helper t cells 30 Hallmark (90%) HP:0005407
17 emotional lability 58 30 Frequent (33%) Frequent (79-30%)
HP:0000712
18 hypertriglyceridemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0002155
19 recurrent upper respiratory tract infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002788
20 accelerated skeletal maturation 58 30 Frequent (33%) Frequent (79-30%)
HP:0005616
21 orthostatic hypotension due to autonomic dysfunction 58 30 Frequent (33%) Frequent (79-30%)
HP:0004926
22 pituitary hypothyroidism 58 30 Frequent (33%) Frequent (79-30%)
HP:0008245
23 insulin-resistant diabetes mellitus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000831
24 diabetes mellitus 30 Very rare (1%) HP:0000819
25 short stature 30 HP:0004322
26 delayed puberty 30 HP:0000823
27 decreased testosterone in males 58 Very frequent (99-80%)
28 immune dysregulation 30 HP:0002958
29 decreased proportion of cd4-positive t cells 58 Very frequent (99-80%)
30 decreased response to growth hormone stimulation test 30 HP:0000824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Endocrine Features:
hypogonadotropic hypogonadism
low estradiol
low testosterone
diabetes mellitus (in some patients)
low insulin-like growth factor 1 (in adults)
more
Abdomen Gastrointestinal:
hyperphagia

Respiratory:
upper respiratory tract infections

Growth Weight:
obesity, severe (onset from birth)

Genitourinary External Genitalia Male:
normal sexual and reproductive function

Immunology:
frequent childhood infections (predominantly upper respiratory tract)
reduction in absolute cd4+ t-cells
compensatory increase in cd19+ cell (b-cell) count
t-cells show reduced proliferative responses

Genitourinary Internal Genitalia Female:
irregular menses
delayed menses

Neurologic Behavioral Psychiatric Manifestations:
hyperphagia

Growth Height:
normal linear growth in childhood
short stature (final height)

Growth Other:
no pubertal growth spurt
bmi in males decreases around puberty

Genitourinary Internal Genitalia Male:
normal sexual and reproductive function

Clinical features from OMIM®:

614963 (Updated 08-Dec-2022)

Drugs & Therapeutics for Leptin Receptor Deficiency

Drugs for Leptin Receptor Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 342)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nadroparin Approved, Investigational Phase 4
2
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
3
Loperamide Approved Phase 4 53179-11-6 3955
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
5
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
6
Remifentanil Approved Phase 4 132875-61-7 60815
7
Cefazolin Approved Phase 4 25953-19-9 33255
8
Anidulafungin Approved, Investigational Phase 4 166663-25-8 166548
9
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
10
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
11
Chenodeoxycholic acid Approved Phase 4 474-25-9 10133
12
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
13
Mecobalamin Approved, Investigational Phase 4 13422-55-4
14
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 44475014
15
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
16
Bismuth subsalicylate Approved, Vet_approved Phase 4 14882-18-9 53629521 16682734
17
Clarithromycin Approved Phase 4 81103-11-9 84029
18
Chlorhexidine Approved, Vet_approved, Withdrawn Phase 4 55-56-1 2713 9552079
19
Coal tar Approved Phase 4 8007-45-2
20
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
21
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
22
Micafungin Approved, Investigational Phase 4 235114-32-6 477468
23
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
24
Amphotericin B Approved, Investigational Phase 4 1397-89-3 5280965
25
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
26
Atorvastatin Approved Phase 4 134523-00-5 60823
27
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
28
Risedronic acid Approved, Investigational Phase 4 105462-24-6 5245
29
Morphine Approved, Investigational Phase 4 57-27-2 5288826
30
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
31
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
32
Lorazepam Approved Phase 4 846-49-1 3958
33
Acetaminophen Approved Phase 4 103-90-2 1983
34
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 4 14838-15-4, 492-39-7 131954576 4786 26934
35
Cyclobenzaprine Approved Phase 4 303-53-7 2895
36
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
37
Ondansetron Approved, Withdrawn Phase 4 99614-02-5 4595
38
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
39
Hydromorphone Approved, Illicit Phase 4 466-99-9, 71-68-1 5284570
40
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
41
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
42
Scopolamine Approved, Investigational Phase 4 51-34-3 153311 3000322
43
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
44
Ethanol Approved Phase 4 64-17-5 702
45
Bupropion Approved Phase 4 31677-93-7, 34841-39-9, 34911-55-2 444
46
Naltrexone Approved, Investigational, Vet_approved Phase 4 16590-41-3 5360515
47
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8 5280382 445354
48
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
49
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 24892734 16212801 44176380
50
Cobalamin Experimental Phase 4 13408-78-1 6857388

Interventional clinical trials:

(show top 50) (show all 759)
# Name Status NCT ID Phase Drugs
1 Correlation of Postoperative VAS Values and Body Mass Index in Patients Undergoing Abdominal Surgery: A Clinical Trial Unknown status NCT02017314 Phase 4 Morphine
2 Prospective Randomized Study of Effects of Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Sleeve Gastrectomy Unknown status NCT00667706 Phase 4
3 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
4 A Study of the Pharmacokinetics of Dexmedetomidine in Morbid Obesity. Unknown status NCT01864187 Phase 4 Dexmedetomidine
5 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
6 Preoperative Carbohydrate Loading in Bariatric Surgery - Randomized Clinical Trail Unknown status NCT04486079 Phase 4
7 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
8 Gut Hormones as Mediators of Different Weight Loss Responses After Roux-en-Y Gastric Bypass Unknown status NCT02374632 Phase 4
9 International, Multi Centre, Open, Prospective, Randomized Study: Banded Versus Conventional Laparoscopic Roux-en-Y (GABY) Unknown status NCT01015469 Phase 4
10 A Prospective Randomized Clinical Trial Evaluating Surgical Conditions During Laparoscopic Bariatric Surgery With Deep Versus Moderate Neuromuscular Blockade Completed NCT02703909 Phase 4 Rocuronium
11 A Novel Preoperative Conditioning Therapy in Giant Obese Patients With the Combination of Liraglutide and a Leucine-Based Amino-Acid Infusion and Caloric Restriction Completed NCT02616003 Phase 4 Liraglutide
12 Increased Cefazolin (Ancef) Dosing for Prophylaxis During Cesarean Delivery in the Obese Population Completed NCT02049944 Phase 4 Cefazolin
13 Pharmacokinetics of Anidulafungin (Ecalta ®) Given Intravenously as Prophylaxis to Obese Patients With Risk of Invasive Fungal Infection Undergoing Gastric Bypass Surgery. Completed NCT02021123 Phase 4 Anidulafungin 100mg single dose iv
14 Effect of Bile Acids and Bile Acid Sequstrants on GLP-1 Secretion After Roux-en-Y Gastric Bypass Completed NCT02952963 Phase 4 Chenodeoxycholic Acid;Colesevelam
15 A Post Implantation/Post Market Evaluation of Safety and Quality of Life in Subjects Implanted With the Swedish Adjustable Gastric Band (SAGB) During Protocol CI-02-0006 Completed NCT00543140 Phase 4
16 Effectiveness and Tolerability of Phentermine in the Reduction of Intrahepatic Fat Infiltration, Adipose Tissue and Postoperative Complications in Patients Under Bariatric Surgery Completed NCT03849729 Phase 4 Phentermine
17 Quadratus Lumborum II Block vs Conventional Therapy Alone For Laparoscopic Sleeve Gastrectomy Completed NCT04073056 Phase 4 Bupivacaine
18 Vitamin Deficiencies and Suppletion in Morbid Obesity Completed NCT02270749 Phase 4 Hydroxocobalamin;FitForMe vitamin B12
19 THE EFFECT OF HELICOBACTER PYLORI ERADICATION THERAPY TO GASTRIC WALL THICKNESS BEFORE THE LAPAROSCOPIC SLEEVE GASTRECTOMY Completed NCT03757650 Phase 4 Bismuth Subsalicylate
20 Comparisons of iv Ibuprofen and iv Paracetamol for Postoperative Pain Levels and Opioid Consumption During Bariatric Surgery Completed NCT02778958 Phase 4 paracetamol;ibuprofen
21 Clinical, Microbial and Biochemistry Evaluation of Obese Individuals Submitted to One-stage Full-mouth Disinfection. A Clinical Control Parallel Study Completed NCT03103204 Phase 4
22 A Randomized Controlled Trial for Epidural Labor Analgesia: Comparison of Dural Puncture Epidural With Standard Labor Epidural Techniques Completed NCT03074695 Phase 4 Dural puncture epidural (DPE);Standard Epidural (EPL)
23 Micafungin (Mycamine®) Pharmacokinetics Given as a Single Intravenous Dose to Obese Patients (MICADO). Completed NCT03102658 Phase 4 Micafungin
24 Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot) Completed NCT02959853 Phase 4 Anastrazole
25 Population Pharmacokinetics and Pharmacodynamics of Propofol in the Morbidly Obese Patient Completed NCT00395681 Phase 4 Diprivan
26 Efficacy and Tolerability of Garcinia Mangostana Extracts in the Management of Weight Loss in Severe Obese Patients Completed NCT02823561 Phase 4
27 Randomized Clinical Trial Between Laparoscopic Gastric Bypass and Laparoscopic Vertical Banded Gastroplasty for Morbid Obesity Completed NCT01639677 Phase 4
28 Pharmacokinetics of Liposomal Amphotericin B (AmBisome®) Given Intravenously to Patients Undergoing Bariatric Surgery Completed NCT02320604 Phase 4 Administration of study drug
29 Pharmacokinetics of Posaconazole Given as a Single Intravenous Dose to Obese Subjects: Dosing Obese With Noxafil® Under a Trial (DONUT) Completed NCT03246386 Phase 4 Posaconazole Injection [Noxafil] 300mg;Posaconazole Injection [Noxafil] 400mg
30 Investigations on the Influence of Bariatric Surgery on the Metabolism and Absorption of Atorvastatin Completed NCT00331565 Phase 4
31 Effects of Ursodeoxycholic Acid and Chenodeoxycholic Acid on GLP-1 Secretion After Roux-en-Y Gastric Bypass Completed NCT02340247 Phase 4 Ursodeoxycholic Acid;Chenodeoxycholic Acid
32 A Comparison of Cerebral Oximetry After Propofol-Based Total Intravenous Anesthesia and Sevoflurane Inhalation Anesthesia in Morbidly Obese Patients Undergoing LSG: a Prospective, Single-Blinded, Randomized, Parallel-Group Study. Completed NCT03946657 Phase 4 Inhalational anesthetic;Intravenous anesthetic
33 Pharmacokinetics of Intravenous Acetaminophen and Its Metabolites in Morbidly Obese Patients Completed NCT01764555 Phase 4 acetaminophen 2 g
34 Omega-3 Fatty Acids in Bariatric Gastric Bypass Surgery: Effect on Liver Volume, Immune Response and Erythrocyte Function Completed NCT02206256 Phase 4 Omega-3 fatty acid capsules
35 CYP3A4 Metabolism Before and After Surgery Induced Weight Loss in Morbidly Obese Patients Using Midazolam as a Model Drug Completed NCT01519726 Phase 4 Midazolam
36 Effects of Chenodeoxycholic Acid and Colesevelam on GLP-1 Secretion, During a Meal, After Roux-en-Y Gastric Bypass Completed NCT02876484 Phase 4 Colesevelam;Chenodeoxycholic Acid
37 Pharmacokinetics (PK) of Propofol in Bariatric (Morbidly Obese) Patients Completed NCT01536002 Phase 4 Propofol
38 Effect of Bisphosphonate Use on Surgical Weight Loss Associated Bone Loss in Older Adults With Morbid Obesity Completed NCT03411902 Phase 4 Risedronate Sodium 150 MG
39 Multimodal Analgesia Effect on Post Surgical Patient Recruiting NCT04240626 Phase 4 Neurontin;Dilaudid Injectable Product;Marcaine Injectable Product;Oxycodone Hydrochloride;Hycet 7.5Mg-325Mg/15Ml Solution;Zofran Injection;Scopolamine patch;Ativan;Flexeril Oral Product;Tylenol Suspension
40 ED90 for Hyperbaric Bupivacaine in Spinal Anesthesia for Cesarean Delivery in Super Obese Parturients Recruiting NCT03781388 Phase 4 Bupivacaine
41 Evaluation of Propofol Dosing Based on Total Body Weight Versus Adjusted Body Weight in Obese Patients Receiving Total Intravenous Anaesthesia With Automated Closed-Loop Anaesthesia Delivery System: A Randomized Controlled Study Recruiting NCT05305313 Phase 4 Propofol
42 Use of Mysimba in Patients With Weight Regain After Bariatric Surgery Not yet recruiting NCT04902625 Phase 4 Naltrexone-Bupropion Combination
43 The Bioavailability and Effect on Pouch pH of Esomeprazole as Tablets or in Solution After Laparoscopic Proximal RYGB for Morbid Obesity - an Investigator Blinded Pilot Study Not yet recruiting NCT05320796 Phase 4
44 Bariatric Surgery Plus Weight Watchers vs. Weight Watchers in Underserved Minorities: Randomized Controlled Cross-over Trial Withdrawn NCT01929850 Phase 4
45 Randomized, Prospective, Double-blind Trial of PPI vs Placebo in Prevention of Gastrojejunal Strictures After Laparoscopic Roux-en-Y Gastric Bypass for Morbid Obesity Withdrawn NCT00361985 Phase 4 Esomeprazole
46 Stapled vs Hand Sewn Anastomosis in Roux en Y Gastric Bypass for Morbid Obesity: Randomized Clinical Trial Unknown status NCT02077517 Phase 3
47 Bariatric Arterial Embolization for Morbid Obesity Unknown status NCT02786108 Phase 3
48 Effect of Continuous Intravenous Lidocaine on Early Rehabilitation in Bariatric Surgery. A Randomized Double Blind Controlled Study Unknown status NCT03211455 Phase 3 Lidocaine;isotonic saline
49 Comparative Study of Sugammadex Versus Neostigmine for Reversal of Neuromuscular Blockade in Morbidly Obese Patients Undergoing Weight Loss Surgery.Use of Acceleromyography Monitoring in Adductor Pollicis and Corrugator Supercilii. Unknown status NCT01629394 Phase 2, Phase 3 Sugammadex;Neostigmine
50 Laparoscopic Adjustable Gastric Banding for Treatment of Morbid Obesity in Adolescents Unknown status NCT01619488 Phase 3

Search NIH Clinical Center for Leptin Receptor Deficiency

Genetic Tests for Leptin Receptor Deficiency

Genetic tests related to Leptin Receptor Deficiency:

# Genetic test Affiliating Genes
1 Obesity Due to Leptin Receptor Gene Deficiency 28 LEPR

Anatomical Context for Leptin Receptor Deficiency

Organs/tissues related to Leptin Receptor Deficiency:

MalaCards : Liver, T Cells, Ovary, Hypothalamus, Small Intestine, Prefrontal Cortex, Brain

Publications for Leptin Receptor Deficiency

Articles related to Leptin Receptor Deficiency:

(show top 50) (show all 9370)
# Title Authors PMID Year
1
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. 62 57 5
17229951 2007
2
A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. 62 57 5
9537324 1998
3
Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity. 62 57
29545012 2018
4
Novel variants in the MC4R and LEPR genes among severely obese children from the Iberian population. 5
24611737 2014
5
Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor. 5
18703626 2008
6
Complete rescue of obesity, diabetes, and infertility in db/db mice by neuron-specific LEPR-B transgenes. 5
16284652 2005
7
Overexpression of the obese (ob) gene in adipose tissue of human obese subjects. 57
7585223 1995
8
Increased obese mRNA expression in omental fat cells from massively obese humans. 57
7585224 1995
9
Increased expression in adipocytes of ob RNA in mice with lesions of the hypothalamus and with mutations at the db locus. 57
7624352 1995
10
Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated Syndrome: A Case Report. 62
36457943 2023
11
Early metabolomic, lipid and lipoprotein changes in response to medical and surgical therapeutic approaches to obesity. 62
36375643 2023
12
Risk factors for the development of a peri-prosthetic joint infection up to 2 Years following primary reverse shoulder arthroplasty. 62
36411844 2023
13
Demographic, Reproductive, and Medical Risk Factors for Intrauterine Device Expulsion. 62
36357958 2022
14
Changes in circulating sirtuin 1 after bariatric surgery. 62
36404480 2022
15
Activities of Daily Living and Outcomes in Patients with Advanced Heart Failure. 62
36063861 2022
16
The association between primary cesarean delivery in primipara and subsequent mode of conception, a retrospective study. 62
34872439 2022
17
A comparison of outcomes between class-II and class-III obese patients undergoing robotic ventral hernia repair: a multicenter study. 62
35305193 2022
18
Institutional analysis of intra- and post-operative tracheostomy management for risk reduction. 62
36474666 2022
19
Predictors of type-2 diabetes remission following bariatric surgery after a two-year follow-up. 62
35256262 2022
20
Understanding the Prodromal Period of Necrotizing Soft Tissue Infections of the Genitalia (Fournier's Gangrene) and the Incidence, Duration, and Risk Factors Associated With Potential Missed Opportunities for an Earlier Diagnosis: A Population-based Longitudinal Study. 62
36006046 2022
21
Effect of bariatric surgery on macular and peripapillary choroidal structures in young patients with morbid obesity. 62
35469815 2022
22
Effects of a (poly)phenol-rich supplement on anthropometric, biochemical, and inflammatory parameters in participants with morbid obesity: Study protocol for a randomised controlled trial. 62
36387986 2022
23
Laparoscopic surgery in 3D improves results and surgeon convenience in sleeve gastrectomy for morbid obesity. 62
36180641 2022
24
Ultrasound patterns of venous disease in patients with venous leg ulcers and morbid obesity. 62
36259760 2022
25
Impact of sleeve gastrectomy on renal function in patients with morbid obesity: a 1-year prospective cohort study. 62
35943574 2022
26
Reliability of Non-invasive Liver Fibrosis Assessment Tools Versus Biopsy in Pre- and Post-bariatric Surgery Patients with Non-alcoholic Fatty Liver Disease. 62
36464738 2022
27
A case of giant necrotic spermatic cord lipoma found incidentally during recurrent inguinal hernia repair: A case report. 62
36370603 2022
28
Management of Venous Thromboembolism in Morbid Obesity With Rivaroxaban or Warfarin. 62
35505606 2022
29
Setmelanotide: A Novel Targeted Treatment for Monogenic Obesity. 62
36311304 2022
30
Metrnl ameliorates diabetic cardiomyopathy via inactivation of cGAS/STING signaling dependent on LKB1/AMPK/ULK1-mediated autophagy. 62
36334887 2022
31
Evaluation of Pharmacological Rescue of Melanocortin-4 Receptor Nonsense Mutations by Aminoglycoside. 62
36362948 2022
32
Class III obesity is an independent risk factor for unsuccessful induction of labor. 62
36311296 2022
33
Does the use of BariBoard™ improve adequacy of chest compressions in morbid obesity? A pilot study using a simulation model. 62
34930648 2022
34
A comparison study on patient-reported outcome between obese and non-obese patients with central lumbar spinal stenosis undergoing surgical decompression: 14,984 patients in the National Swedish Quality Registry for Spine Surgery. 62
36445071 2022
35
Sleep Disorders Are Associated with Female Sexual Desire and Genital Response - A U.S. Claims Database Analysis. 62
36455681 2022
36
An Alternative Airway Intervention to Preserve the Surgical Field in Oral and Maxillofacial Surgery. 62
36416642 2022
37
A Comparison Between the Postoperative Complications of Laparoscopic Sleeve Gastrectomy (LSG) and Laparoscopic Roux-en-Y Gastric Bypass (RNYGB) in Patients With Morbid Obesity: A Meta-Analysis. 62
36398039 2022
38
Patient-specific stomach biomechanics before and after laparoscopic sleeve gastrectomy. 62
35451669 2022
39
Serum TSH, 25(OH) D and phosphorus levels predict weight loss in individuals with diabetes/prediabetes and morbid obesity: a single-center retrospective cohort analysis. 62
36401211 2022
40
Safety and efficacy of apixaban, dabigatran and rivaroxaban in obese and morbidly obese patients with heart failure and atrial fibrillation: A real-world analysis. 62
36419246 2022
41
Association between hepatic steatosis and fibrosis with measures of insulin sensitivity in patients with severe obesity and type 2 diabetes - a cross-sectional study. 62
36336684 2022
42
Associations between subcutaneous adipocyte hypertrophy and nonalcoholic fatty liver disease. 62
36443373 2022
43
Bariatric Surgery Lowers Rates of Spinal Symptoms and Spinal Surgery in a Morbidly Obese Population. 62
35550396 2022
44
Oxygen-induced hypercapnia: physiological mechanisms and clinical implications. 62
36412131 2022
45
SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort. 62
36436143 2022
46
Siddha fasting in obese acute decompensated heart failure may improve hospital outcomes through empowerment and natural ketosis. 62
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47
Oral health by obesity classification in young obese women - a cross-sectional study. 62
35876084 2022
48
Factors associated with colorectal cancer screening adherence and the impact of COVID-19 on screening patterns in Connecticut, USA. 62
35922730 2022
49
Comparison of a pre-bariatric surgery very low-calorie ketogenic diet and the Mediterranean diet effects on weight loss, metabolic parameters, and liver size reduction. 62
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50
Stratified Preoperative A1c is not Significantly Associated With Clavien-Dindo Major Complications Following Bariatric Surgery in the MBSAQIP Database. 62
36069148 2022

Variations for Leptin Receptor Deficiency

ClinVar genetic disease variations for Leptin Receptor Deficiency:

5 (show top 50) (show all 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LEPR NM_002303.6(LEPR):c.2597+1G>A SNV Pathogenic
8522 rs1474810899 GRCh37: 1:66087142-66087142
GRCh38: 1:65621459-65621459
2 LEPR DEL Pathogenic
666597 GRCh37: 1:66038010-66067366
GRCh38:
3 LEPR NM_002303.6(LEPR):c.1835G>A (p.Arg612His) SNV Pathogenic
631614 rs144159890 GRCh37: 1:66075712-66075712
GRCh38: 1:65610029-65610029
4 LEPR NM_002303.6(LEPR):c.464A>C (p.Tyr155Ser) SNV Pathogenic
619954 rs1557670950 GRCh37: 1:66038102-66038102
GRCh38: 1:65572419-65572419
5 LEPR NM_002303.6(LEPR):c.3268_3269dup (p.Ser1090fs) MICROSAT Pathogenic
453309 rs1553174844 GRCh37: 1:66102459-66102460
GRCh38: 1:65636776-65636777
6 LEPR NM_002303.6(LEPR):c.133_136dup (p.Tyr46Ter) DUP Likely Pathogenic
1679174 GRCh37: 1:66036246-66036247
GRCh38: 1:65570563-65570564
7 LEPR NM_002303.6(LEPR):c.36T>C (p.His12=) SNV Uncertain Significance
727197 rs147768538 GRCh37: 1:66031284-66031284
GRCh38: 1:65565601-65565601
8 LEPR NM_002303.6(LEPR):c.594G>A (p.Val198=) SNV Uncertain Significance
875835 rs140347630 GRCh37: 1:66058439-66058439
GRCh38: 1:65592756-65592756
9 LEPR NM_002303.6(LEPR):c.3479T>C (p.Met1160Thr) SNV Uncertain Significance
298003 rs145685060 GRCh37: 1:66102679-66102679
GRCh38: 1:65636996-65636996
10 LEPR NM_002303.6(LEPR):c.2698A>G (p.Ile900Val) SNV Uncertain Significance
297997 rs142647085 GRCh37: 1:66101898-66101898
GRCh38: 1:65636215-65636215
11 LEPR NM_002303.6(LEPR):c.371A>G (p.Asp124Gly) SNV Uncertain Significance
297986 rs35573508 GRCh37: 1:66038009-66038009
GRCh38: 1:65572326-65572326
12 LEPR NM_002303.6(LEPR):c.3019A>T (p.Ser1007Cys) SNV Uncertain Significance
297999 rs145651189 GRCh37: 1:66102219-66102219
GRCh38: 1:65636536-65636536
13 LEPR NM_002303.6(LEPR):c.3078T>C (p.Asn1026=) SNV Uncertain Significance
298001 rs34130975 GRCh37: 1:66102278-66102278
GRCh38: 1:65636595-65636595
14 LEPR NM_002303.6(LEPR):c.1246C>T (p.His416Tyr) SNV Uncertain Significance
297993 rs144710810 GRCh37: 1:66067326-66067326
GRCh38: 1:65601643-65601643
15 LEPR NM_002303.6(LEPR):c.2370A>C (p.Ser790=) SNV Uncertain Significance
730209 rs13306528 GRCh37: 1:66083804-66083804
GRCh38: 1:65618121-65618121
16 LEPR NM_002303.6(LEPR):c.421A>G (p.Ile141Val) SNV Uncertain Significance
1709580 GRCh37: 1:66038059-66038059
GRCh38: 1:65572376-65572376
17 LEPR NM_002303.6(LEPR):c.3417A>G (p.Ala1139=) SNV Uncertain Significance
36466 rs61781316 GRCh37: 1:66102617-66102617
GRCh38: 1:65636934-65636934
18 LEPR NM_001003679.2(LEPR):c.-186C>T SNV Uncertain Significance
873954 rs1646225829 GRCh37: 1:65886334-65886334
GRCh38: 1:65420651-65420651
19 LEPR NM_002303.6(LEPR):c.*453C>T SNV Uncertain Significance
875007 rs191470560 GRCh37: 1:66103151-66103151
GRCh38: 1:65637468-65637468
20 LEPR NM_002303.6(LEPR):c.*287G>C SNV Uncertain Significance
875006 rs974484944 GRCh37: 1:66102985-66102985
GRCh38: 1:65637302-65637302
21 LEPR NM_002303.6(LEPR):c.*251G>T SNV Uncertain Significance
875005 rs1032178127 GRCh37: 1:66102949-66102949
GRCh38: 1:65637266-65637266
22 LEPR NM_002303.6(LEPR):c.*153A>G SNV Uncertain Significance
875003 rs147380894 GRCh37: 1:66102851-66102851
GRCh38: 1:65637168-65637168
23 LOC122094844, LEPR NM_002303.6(LEPR):c.2046C>T (p.Asn682=) SNV Uncertain Significance
874955 rs192825082 GRCh37: 1:66081741-66081741
GRCh38: 1:65616058-65616058
24 LEPR NM_002303.6(LEPR):c.1701C>T (p.Asn567=) SNV Uncertain Significance
874954 rs2228301 GRCh37: 1:66074533-66074533
GRCh38: 1:65608850-65608850
25 LEPR NM_002303.6(LEPR):c.1635A>G (p.Ala545=) SNV Uncertain Significance
874953 rs199507516 GRCh37: 1:66074467-66074467
GRCh38: 1:65608784-65608784
26 LEPR NM_002303.6(LEPR):c.1413T>A (p.Leu471=) SNV Uncertain Significance
874952 rs1656724477 GRCh37: 1:66070730-66070730
GRCh38: 1:65605047-65605047
27 LEPR NM_002303.6(LEPR):c.1374G>A (p.Ala458=) SNV Uncertain Significance
874951 rs768308728 GRCh37: 1:66067614-66067614
GRCh38: 1:65601931-65601931
28 LEPR NM_002303.6(LEPR):c.1341C>T (p.Cys447=) SNV Uncertain Significance
874950 rs1656463888 GRCh37: 1:66067581-66067581
GRCh38: 1:65601898-65601898
29 LEPROT, LEPR NM_002303.6(LEPR):c.-51T>G SNV Uncertain Significance
874897 rs150026062 GRCh37: 1:65891031-65891031
GRCh38: 1:65425348-65425348
30 LEPR NM_002303.6(LEPR):c.*99A>G SNV Uncertain Significance
874076 rs529659801 GRCh37: 1:66102797-66102797
GRCh38: 1:65637114-65637114
31 LEPR NM_002303.6(LEPR):c.*48G>C SNV Uncertain Significance
874075 rs987448071 GRCh37: 1:66102746-66102746
GRCh38: 1:65637063-65637063
32 LEPR NM_002303.6(LEPR):c.3437A>T (p.Gln1146Leu) SNV Uncertain Significance
874074 rs779463781 GRCh37: 1:66102637-66102637
GRCh38: 1:65636954-65636954
33 LEPR NM_002303.6(LEPR):c.1299T>C (p.Asn433=) SNV Uncertain Significance
874018 rs140137775 GRCh37: 1:66067539-66067539
GRCh38: 1:65601856-65601856
34 LEPROT, LEPR NM_002303.6(LEPR):c.-162C>A SNV Uncertain Significance
873955 rs368145929 GRCh37: 1:65886358-65886358
GRCh38: 1:65420675-65420675
35 LEPR NM_002303.6(LEPR):c.1018A>G (p.Ile340Val) SNV Uncertain Significance
874014 rs753573139 GRCh37: 1:66067098-66067098
GRCh38: 1:65601415-65601415
36 LEPR NM_002303.6(LEPR):c.1030G>A (p.Val344Ile) SNV Uncertain Significance
874015 rs145668112 GRCh37: 1:66067110-66067110
GRCh38: 1:65601427-65601427
37 LEPR NM_002303.6(LEPR):c.1040A>G (p.Asn347Ser) SNV Uncertain Significance
874016 rs200240836 GRCh37: 1:66067120-66067120
GRCh38: 1:65601437-65601437
38 LEPR NM_002303.6(LEPR):c.1157A>G (p.Asp386Gly) SNV Uncertain Significance
874017 rs1364613256 GRCh37: 1:66067237-66067237
GRCh38: 1:65601554-65601554
39 LEPR NM_002303.6(LEPR):c.260T>C (p.Phe87Ser) SNV Uncertain Significance
875831 rs891183270 GRCh37: 1:66036375-66036375
GRCh38: 1:65570692-65570692
40 LEPR NM_002303.6(LEPR):c.299C>G (p.Ser100Cys) SNV Uncertain Significance
875832 rs1297438423 GRCh37: 1:66036414-66036414
GRCh38: 1:65570731-65570731
41 LEPR NM_002303.6(LEPR):c.345A>G (p.Val115=) SNV Uncertain Significance
875833 rs773805917 GRCh37: 1:66036460-66036460
GRCh38: 1:65570777-65570777
42 LEPR NM_002303.6(LEPR):c.371-9T>A SNV Uncertain Significance
875834 rs1253993053 GRCh37: 1:66038000-66038000
GRCh38: 1:65572317-65572317
43 LOC122094844, LEPR NM_002303.6(LEPR):c.2171T>C (p.Val724Ala) SNV Uncertain Significance
875881 rs375934938 GRCh37: 1:66081866-66081866
GRCh38: 1:65616183-65616183
44 LOC122094844, LEPR NM_002303.6(LEPR):c.2185T>G (p.Leu729Val) SNV Uncertain Significance
875882 rs768503592 GRCh37: 1:66081880-66081880
GRCh38: 1:65616197-65616197
45 LEPR NM_002303.6(LEPR):c.2260G>A (p.Val754Met) SNV Uncertain Significance
875883 rs150936702 GRCh37: 1:66083694-66083694
GRCh38: 1:65618011-65618011
46 LEPR NM_002303.6(LEPR):c.611A>G (p.Lys204Arg) SNV Uncertain Significance
876823 rs146442768 GRCh37: 1:66058456-66058456
GRCh38: 1:65592773-65592773
47 LEPR NM_002303.6(LEPR):c.691C>T (p.Pro231Ser) SNV Uncertain Significance
876824 rs776647803 GRCh37: 1:66058536-66058536
GRCh38: 1:65592853-65592853
48 LEPR NM_002303.6(LEPR):c.704-8T>C SNV Uncertain Significance
876825 rs183928195 GRCh37: 1:66062123-66062123
GRCh38: 1:65596440-65596440
49 LEPR NM_002303.6(LEPR):c.806A>G (p.Tyr269Cys) SNV Uncertain Significance
876826 rs996361966 GRCh37: 1:66062233-66062233
GRCh38: 1:65596550-65596550
50 LEPR NM_002303.6(LEPR):c.3041C>G (p.Ser1014Cys) SNV Uncertain Significance
876875 rs563763692 GRCh37: 1:66102241-66102241
GRCh38: 1:65636558-65636558

Expression for Leptin Receptor Deficiency

Search GEO for disease gene expression data for Leptin Receptor Deficiency.

Pathways for Leptin Receptor Deficiency

GO Terms for Leptin Receptor Deficiency

Sources for Leptin Receptor Deficiency

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
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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