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LEPRD
MCID: LPT006
MIFTS: 50

Leptin Receptor Deficiency (LEPRD)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Leptin Receptor Deficiency

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MalaCards integrated aliases for Leptin Receptor Deficiency:

Name: Leptin Receptor Deficiency 57 43 73 36 29 6 71
Obesity, Morbid, Due to Leptin Receptor Deficiency 57 43 13
Obesity Due to Leptin Receptor Gene Deficiency 43 58
Leprd 57 73
Morbid Obesity Due to Leptin Receptor Deficiency 73
Congenital Deficiency of the Leptin Receptor 43
Leptin Receptor-Related Monogenic Obesity 43
Obesity, Morbid, Nonsyndromic 2 43
Deficiency, Leptin Receptor 39
Obesity, Morbid 57
Morbid Obesity 73

Characteristics:

Orphanet epidemiological data:

58
obesity due to leptin receptor gene deficiency
Inheritance: Autosomal recessive;

OMIM®:

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

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


HPO:

31
leptin receptor deficiency:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


Sources

Summaries for Leptin Receptor Deficiency

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MedlinePlus Genetics : 43 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, morbid, due to leptin receptor deficiency, is related to leptin deficiency or dysfunction and syndromic obesity. An important gene associated with Leptin Receptor Deficiency is LEPR (Leptin Receptor), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Adipocytokine signaling pathway. The drugs Rocuronium and Amoxicillin have been mentioned in the context of this disorder. Affiliated tissues include liver, pituitary and bone, and related phenotypes are obesity and decreased serum leptin

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 05-Mar-2021)

KEGG : 36 Leptin receptor deficiency is an autosomal recessive condition that causes severe early-onset obesity and pituitary dysfunction. Mutations in LEPR gene encoding leptin receptor cause this disease.

UniProtKB/Swiss-Prot : 73 Leptin receptor deficiency: 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.

Wikipedia : 74 Leptin receptor, also known as LEP-R or OB-R, is a type I cytokine receptor, a protein that in humans is... more...

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Related Diseases for Leptin Receptor Deficiency

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

(show top 50) (show all 477)
# Related Disease Score Top Affiliating Genes
1 leptin deficiency or dysfunction 29.4 LEPROT LEPR
2 syndromic obesity 29.4 LEPROT LEPR
3 body mass index quantitative trait locus 11 29.0 LEPROT LEPR
4 morbid obesity and spermatogenic failure 11.2
5 sleep apnea 10.8
6 body mass index quantitative trait locus 1 10.8
7 non-alcoholic fatty liver disease 10.7
8 gastroesophageal reflux 10.7
9 lipid metabolism disorder 10.7
10 fatty liver disease 10.7
11 liver disease 10.6
12 eating disorder 10.6
13 esophagitis 10.6
14 pulmonary embolism 10.6
15 non-alcoholic steatohepatitis 10.6
16 dysphagia 10.5
17 cholelithiasis 10.5
18 gastritis 10.5
19 encephalopathy 10.5
20 prader-willi syndrome 10.5
21 wernicke encephalopathy 10.4
22 hyperinsulinism 10.4
23 iron metabolism disease 10.4
24 thrombophilia due to thrombin defect 10.4
25 fatty liver disease, nonalcoholic 1 10.4
26 respiratory failure 10.4
27 peptic esophagitis 10.4
28 peritonitis 10.4
29 intussusception 10.4
30 gallbladder disease 1 10.4
31 gastrojejunal ulcer 10.4
32 hyperparathyroidism 10.4
33 dumping syndrome 10.4
34 hypothyroidism 10.4
35 apnea, obstructive sleep 10.4
36 achalasia 10.4
37 hernia, hiatus 10.3
38 hypercholesterolemia, familial, 1 10.3
39 gestational diabetes 10.3
40 beriberi 10.3
41 rickets 10.3
42 secondary hyperparathyroidism 10.3
43 liver cirrhosis 10.3
44 situs inversus 10.3
45 overgrowth syndrome 10.3
46 volvulus of midgut 10.3
47 anorexia nervosa 10.3
48 diarrhea 10.3
49 peptic ulcer disease 10.3
50 47,xyy 10.3

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



Diseases related to Leptin Receptor Deficiency
Sources

Symptoms & Phenotypes for Leptin Receptor Deficiency

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Human phenotypes related to Leptin Receptor Deficiency:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 58 31 obligate (100%) Obligate (100%) HP:0001513
2 decreased serum leptin 58 31 obligate (100%) Obligate (100%) HP:0003292
3 aggressive behavior 31 obligate (100%) HP:0000718
4 abnormal hypothalamus morphology 31 obligate (100%) HP:0012286
5 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
6 hyperinsulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000842
7 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
8 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
9 hypergonadotropic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000815
10 decreased serum estradiol 58 31 hallmark (90%) Very frequent (99-80%) HP:0008214
11 polyphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002591
12 hypoplasia of the ovary 58 31 hallmark (90%) Very frequent (99-80%) HP:0008724
13 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%) HP:0008187
14 decreased t cell activation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005419
15 decreased serum testosterone level 31 hallmark (90%) HP:0040171
16 decreased proportion of cd4-positive helper t cells 31 hallmark (90%) HP:0005407
17 emotional lability 58 31 frequent (33%) Frequent (79-30%) HP:0000712
18 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
19 recurrent upper respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0002788
20 accelerated skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0005616
21 orthostatic hypotension due to autonomic dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0004926
22 pituitary hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0008245
23 insulin-resistant diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000831
24 diabetes mellitus 31 very rare (1%) HP:0000819
25 short stature 31 HP:0004322
26 delayed puberty 31 HP:0000823
27 decreased testosterone in males 58 Very frequent (99-80%)
28 immune dysregulation 31 HP:0002958
29 decreased proportion of cd4-positive t cells 58 Very frequent (99-80%)
30 decreased response to growth hormone stimuation test 31 HP:0000824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

MGI Mouse Phenotypes related to Leptin Receptor Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 LEPR LEPROT
Sources

Drugs & Therapeutics for Leptin Receptor Deficiency

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

(show top 50) (show all 320)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
2
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
3
Nadroparin Approved, Investigational Phase 4
4
Loperamide Approved Phase 4 53179-11-6 3955
5
Clarithromycin Approved Phase 4 81103-11-9 84029
6
Bismuth subsalicylate Approved, Vet_approved Phase 4 14882-18-9 53629521
7
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
8
Cefazolin Approved Phase 4 25953-19-9 656510 33255
9
Remifentanil Approved Phase 4 132875-61-7 60815
10
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
11
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
12
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
13
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
14
Atorvastatin Approved Phase 4 134523-00-5 60823
15
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
16
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
17
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
18
Micafungin Approved, Investigational Phase 4 235114-32-6 3081921 477468
19
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
20
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
21
Anidulafungin Approved, Investigational Phase 4 166663-25-8 166548
22
Phentermine Approved, Illicit Phase 4 122-09-8 4771
23
chenodeoxycholic acid Approved Phase 4 474-25-9 10133
24
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
25
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
26
Coal tar Approved Phase 4 8007-45-2
27
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
28
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
29
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
30
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
31
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
32
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
33
Cobalamin Experimental Phase 4 13408-78-1 6857388
34 Neuromuscular Blocking Agents Phase 4
35 Neuromuscular Nondepolarizing Agents Phase 4
36 Cytochrome P-450 Enzyme Inhibitors Phase 4
37
Bismuth Phase 4 7440-69-9 16682734 105143
38 Antidiarrheals Phase 4
39 Cytochrome P-450 CYP3A Inhibitors Phase 4
40 Liver Extracts Phase 4
41 Trace Elements Phase 4
42 Omega 3 Fatty Acid Phase 4
43 Micronutrients Phase 4
44 Neurotransmitter Agents Phase 4
45 Central Nervous System Stimulants Phase 4
46 Sympathomimetics Phase 4
47 Adrenergic Agents Phase 4
48 retinol Phase 4
49 Retinol palmitate Phase 4
50 Vitamin B Complex Phase 4

Interventional clinical trials:

(show top 50) (show all 681)
# 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 A Study of the Pharmacokinetics of Dexmedetomidine in Morbid Obesity. Unknown status NCT01864187 Phase 4 Dexmedetomidine
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 International, Multi Centre, Open, Prospective, Randomized Study: Banded Versus Conventional Laparoscopic Roux-en-Y (GABY) Unknown status NCT01015469 Phase 4
5 Prospective Randomized Study of Effects of Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Sleeve Gastrectomy Unknown status NCT00667706 Phase 4
6 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
7 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
8 THE EFFECT OF HELICOBACTER PYLORI ERADICATION THERAPY TO GASTRIC WALL THICKNESS BEFORE THE LAPAROSCOPIC SLEEVE GASTRECTOMY Unknown status NCT03757650 Phase 4 Bismuth Subsalicylate
9 Gut Hormones as Mediators of Different Weight Loss Responses After Roux-en-Y Gastric Bypass Unknown status NCT02374632 Phase 4
10 Comparisons of iv Ibuprofen and iv Paracetamol for Postoperative Pain Levels and Opioid Consumption During Bariatric Surgery Completed NCT02778958 Phase 4 paracetamol;ibuprofen
11 A Prospective Randomized Clinical Trial Evaluating Surgical Conditions During Laparoscopic Bariatric Surgery With Deep Versus Moderate Neuromuscular Blockade Completed NCT02703909 Phase 4 Rocuronium
12 Vitamin Deficiencies and Suppletion in Morbid Obesity Completed NCT02270749 Phase 4 Hydroxocobalamin;FitForMe vitamin B12
13 Randomized Clinical Trial Between Laparoscopic Gastric Bypass and Laparoscopic Vertical Banded Gastroplasty for Morbid Obesity Completed NCT01639677 Phase 4
14 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
15 Population Pharmacokinetics and Pharmacodynamics of Propofol in the Morbidly Obese Patient Completed NCT00395681 Phase 4 Diprivan
16 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
17 Investigations on the Influence of Bariatric Surgery on the Metabolism and Absorption of Atorvastatin Completed NCT00331565 Phase 4
18 Pharmacokinetics of Intravenous Acetaminophen and Its Metabolites in Morbidly Obese Patients Completed NCT01764555 Phase 4 acetaminophen 2 g
19 CYP3A4 Metabolism Before and After Surgery Induced Weight Loss in Morbidly Obese Patients Using Midazolam as a Model Drug Completed NCT01519726 Phase 4 Midazolam
20 Pharmacokinetics of Liposomal Amphotericin B (AmBisome®) Given Intravenously to Patients Undergoing Bariatric Surgery Completed NCT02320604 Phase 4 Administration of study drug
21 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
22 Micafungin (Mycamine®) Pharmacokinetics Given as a Single Intravenous Dose to Obese Patients (MICADO). Completed NCT03102658 Phase 4 Micafungin
23 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
24 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
25 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
26 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
27 Pharmacokinetics (PK) of Propofol in Bariatric (Morbidly Obese) Patients Completed NCT01536002 Phase 4 Propofol
28 Increased Cefazolin (Ancef) Dosing for Prophylaxis During Cesarean Delivery in the Obese Population Completed NCT02049944 Phase 4 Cefazolin
29 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
30 Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot) Completed NCT02959853 Phase 4 Anastrazole
31 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
32 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
33 Clinical, Microbial and Biochemistry Evaluation of Obese Individuals Submitted to One-stage Full-mouth Disinfection. A Clinical Control Parallel Study Completed NCT03103204 Phase 4
34 Efficacy and Tolerability of Garcinia Mangostana Extracts in the Management of Weight Loss in Severe Obese Patients Completed NCT02823561 Phase 4
35 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
36 Impact of Sugammadex vs. Neostigmine Reversal on Post-Operative Recovery And Postoperative Complications In Patients With Obstructive Sleep Apnea Undergoing Bariatric Surgery: A Double-Blind, Randomized Controlled Trial Recruiting NCT03679611 Phase 4 Sugammadex Sodium;Neostigmine
37 A Randomized Controlled Trial for Epidural Labor Analgesia: Comparison of Dural Puncture Epidural With Standard Labor Epidural Techniques Recruiting NCT03074695 Phase 4 Dural puncture epidural (DPE);Standard Epidural (EPL)
38 Quadratus Lumborum II Block vs Conventional Therapy Alone For Laparoscopic Sleeve Gastrectomy Recruiting NCT04073056 Phase 4 Bupivacaine
39 ED90 for Hyperbaric Bupivacaine in Spinal Anesthesia for Cesarean Delivery in Super Obese Parturients Recruiting NCT03781388 Phase 4 Bupivacaine
40 Preoperative Carbohydrate Loading in Bariatric Surgery - Randomized Clinical Trail Recruiting NCT04486079 Phase 4
41 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;Esomeprazole
42 Bariatric Surgery Plus Weight Watchers vs. Weight Watchers in Underserved Minorities: Randomized Controlled Cross-over Trial Withdrawn NCT01929850 Phase 4
43 Laparoscopic Adjustable Gastric Banding for Treatment of Morbid Obesity in Adolescents Unknown status NCT01619488 Phase 3
44 Stapled vs Hand Sewn Anastomosis in Roux en Y Gastric Bypass for Morbid Obesity: Randomized Clinical Trial Unknown status NCT02077517 Phase 3
45 Bariatric Arterial Embolization for Morbid Obesity Unknown status NCT02786108 Phase 3
46 Propofol Versus Sevoflurane as Sole Anesthetic Agent in Gastric By-Pass Surgery for Morbid Obesity: A Prospective Randomized Clinical Trial Unknown status NCT01279499 Phase 2, Phase 3 Sevoflurane;Sevoflurane;Propofol- Remifentanyl;Propofol, Remifentanyl
47 Effects of Ketamine on Recovery From Bariatric Surgery Unknown status NCT01724983 Phase 3 ketamine;fentanyl
48 A Randomized Comparative Study on Proseal LMATM and Supreme LMATM for Bariatric Surgery. Unknown status NCT01724970 Phase 3
49 A Pilot Study of the Effects of BYETTA® (Exenatide) on Weight Loss in Morbidly Obese Non Diabetic Patients Following Adjustable Gastric Banding Unknown status NCT00872378 Phase 2, Phase 3 Exenatide;Placebo
50 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

Search NIH Clinical Center for Leptin Receptor Deficiency

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Genetic Tests for Leptin Receptor Deficiency

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Genetic tests related to Leptin Receptor Deficiency:

# Genetic test Affiliating Genes
1 Leptin Receptor Deficiency 29 LEPR
Sources

Anatomical Context for Leptin Receptor Deficiency

About this section

MalaCards organs/tissues related to Leptin Receptor Deficiency:

40
Liver, Pituitary, Bone, T Cells, Lung, Ovary, Hypothalamus
Sources

Publications for Leptin Receptor Deficiency

About this section

Articles related to Leptin Receptor Deficiency:

(show top 50) (show all 70)
# Title Authors PMID Year
1
A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. 6 57
9537324 1998
2
Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity. 57 61
29545012 2018
3
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. 57 61
17229951 2007
4
Complete rescue of obesity, diabetes, and infertility in db/db mice by neuron-specific LEPR-B transgenes. 6
16284652 2005
5
Overexpression of the obese (ob) gene in adipose tissue of human obese subjects. 57
7585223 1995
6
Increased obese mRNA expression in omental fat cells from massively obese humans. 57
7585224 1995
7
Increased expression in adipocytes of ob RNA in mice with lesions of the hypothalamus and with mutations at the db locus. 57
7624352 1995
8
Diagnostic and therapeutic odyssey of two patients with compound heterozygous leptin receptor deficiency. 61
33140236 2020
9
Stratified layer analysis reveals intrinsic leptin stimulates cryptal mesenchymal cells for controlling mucosal inflammation. 61
33110098 2020
10
Intervertebral disc degeneration in mice with type II diabetes induced by leptin receptor deficiency. 61
32024487 2020
11
Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics. 61
31658438 2020
12
Leptin signaling and the intervertebral disc: Sex dependent effects of leptin receptor deficiency and Western diet on the spine in a type 2 diabetes mouse model. 61
32374776 2020
13
Leptin Receptor Deficiency Protects Mice against Chronic Cerebral Hypoperfusion-Induced Neuroinflammation and White Matter Lesions. 61
33380900 2020
14
Elevated expression of the leptin receptor ob‑R may contribute to inflammation in patients with ulcerative colitis. 61
31702041 2019
15
Leptin receptor deficiency induces early, transient and hyperglycaemia-independent blood-brain barrier dysfunction. 61
30814586 2019
16
Melanocortin-4 Receptor Signalling: Importance for Weight Regulation and Obesity Treatment. 61
30642682 2019
17
Rodent models of leptin receptor deficiency are less sensitive to amylin. 61
30133304 2018
18
Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency. 61
29568105 2018
19
Brown adipose tissue whitening leads to brown adipocyte death and adipose tissue inflammation. 61
29599420 2018
20
MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency. 61
29736023 2018
21
Deficiency of leptin receptor in myeloid cells disrupts hypothalamic metabolic circuits and causes body weight increase. 61
29174000 2018
22
Whole-Body Vibration Mimics the Metabolic Effects of Exercise in Male Leptin Receptor-Deficient Mice. 61
28323991 2017
23
Validity of leptin receptor-deficiency (db/db) type 2 diabetes mellitus mice as a model of secondary osteoporosis. 61
27283954 2016
24
HDAC5 Inhibits Hepatic Lipogenic Genes Expression by Attenuating the Transcriptional Activity of Liver X Receptor. 61
27614433 2016
25
Inhibition of cyclooxygenase-2 causes a decrease in coronary flow in diabetic mice. The possible role of PGE2 and dysfunctional vasodilation mediated by prostacyclin receptor. 61
25940857 2015
26
Leptin's metabolic and immune functions can be uncoupled at the ligand/receptor interaction level. 61
25098352 2015
27
Chronic Oxytocin Administration as a Treatment Against Impaired Leptin Signaling or Leptin Resistance in Obesity. 61
26300847 2015
28
The daidzein- and estradiol- induced anorectic action in CCK or leptin receptor deficiency rats. 61
25765851 2015
29
Leptin receptor deficiency confers resistance to behavioral effects of fluoxetine and desipramine via separable substrates. 61
25463972 2014
30
HGK/MAP4K4 deficiency induces TRAF2 stabilization and Th17 differentiation leading to insulin resistance. 61
25098764 2014
31
Leptin signaling in astrocytes regulates hypothalamic neuronal circuits and feeding. 61
24880214 2014
32
Leptin- and leptin receptor-deficient rodent models: relevance for human type 2 diabetes. 61
24809394 2014
33
Reproductive function of the male obese Zucker rats: alteration in sperm production and sperm DNA damage. 61
23800399 2014
34
Leptin receptor-deficient (knockout) medaka, Oryzias latipes, show chronical up-regulated levels of orexigenic neuropeptides, elevated food intake and stage specific effects on growth and fat allocation. 61
24505600 2014
35
Impaired clearance of influenza A virus in obese, leptin receptor deficient mice is independent of leptin signaling in the lung epithelium and macrophages. 61
25232724 2014
36
Leptin modulates dose-dependently the metabolic and cytolytic activities of NK-92 cells. 61
23129404 2013
37
Clusterin and LRP2 are critical components of the hypothalamic feeding regulatory pathway. 61
23673647 2013
38
Absence of functional leptin receptor isoforms in the POUND (Lepr(db/lb)) mouse is associated with muscle atrophy and altered myoblast proliferation and differentiation. 61
23967295 2013
39
Increased central and peripheral inflammation and inflammatory hyperalgesia in Zucker rat model of leptin receptor deficiency and genetic obesity. 61
22523380 2012
40
Haematopoietic leptin receptor deficiency does not affect macrophage accumulation in adipose tissue or systemic insulin sensitivity. 61
22194312 2012
41
Neuropeptide Y and agouti-related peptide mediate complementary functions of hyperphagia and reduced energy expenditure in leptin receptor deficiency. 61
21285324 2011
42
Pancreatic neuronal melanocortin-4 receptor modulates serum insulin levels independent of leptin receptor. 61
20963574 2010
43
The effect of leptin receptor deficiency and fasting on cannabinoid receptor 1 mRNA expression in the rat hypothalamus, brainstem and nodose ganglion. 61
19596404 2009
44
Leptin resistance: a prediposing factor for diet-induced obesity. 61
19091915 2009
45
The role of leptin-melanocortin system and human weight regulation: lessons from experiments of nature. 61
19221669 2009
46
Hyperphagia and obesity produced by arcuate injection of NPY-saporin do not require upregulation of lateral hypothalamic orexigenic peptide genes. 61
18577407 2008
47
Leptin receptor deficiency is associated with upregulation of cannabinoid 1 receptors in limbic brain regions. 61
18563836 2008
48
Food restriction markedly increases dopamine D2 receptor (D2R) in a rat model of obesity as assessed with in-vivo muPET imaging ([11C] raclopride) and in-vitro ([3H] spiperone) autoradiography. 61
17960763 2008
49
Social isolation affects the development of obesity and type 2 diabetes in mice. 61
17640995 2007
50
Swim training improves leptin receptor deficiency-induced obesity and lipid disorder by activating uncoupling proteins. 61
17603293 2007
Sources

Variations for Leptin Receptor Deficiency

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ClinVar genetic disease variations for Leptin Receptor Deficiency:

6 (show top 50) (show all 80)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LEPR NM_002303.6(LEPR):c.2597+1G>A SNV Pathogenic 8522 rs1474810899 1:66087142-66087142 1:65621459-65621459
2 LEPR Deletion Pathogenic 666597 1:66038010-66067366
3 LEPR NM_002303.5(LEPR):c.3260_3261AG[6] (p.Ser1090fs) Microsatellite Pathogenic 453309 rs1553174844 1:66102459-66102460 1:65636776-65636777
4 LEPR NM_001003679.3(LEPR):c.464A>C (p.Tyr155Ser) SNV Pathogenic 619954 rs1557670950 1:66038102-66038102 1:65572419-65572419
5 LEPR NM_002303.6(LEPR):c.2221G>A (p.Val741Met) SNV Uncertain significance 931429 1:66083655-66083655 1:65617972-65617972
6 LEPR NM_002303.5(LEPR):c.3479T>C (p.Met1160Thr) SNV Uncertain significance 298003 rs145685060 1:66102679-66102679 1:65636996-65636996
7 LEPR NM_002303.5(LEPR):c.2698A>G (p.Ile900Val) SNV Uncertain significance 297997 rs142647085 1:66101898-66101898 1:65636215-65636215
8 LEPR NM_001003679.3(LEPR):c.371A>G (p.Asp124Gly) SNV Uncertain significance 297986 rs35573508 1:66038009-66038009 1:65572326-65572326
9 LEPR NM_002303.5(LEPR):c.3019A>T (p.Ser1007Cys) SNV Uncertain significance 297999 rs145651189 1:66102219-66102219 1:65636536-65636536
10 LEPR NM_001003679.3(LEPR):c.921G>C (p.Gln307His) SNV Uncertain significance 297990 rs531183918 1:66064414-66064414 1:65598731-65598731
11 LEPR NM_001003679.3(LEPR):c.1411C>A (p.Leu471Ile) SNV Uncertain significance 297994 rs143319015 1:66070728-66070728 1:65605045-65605045
12 LEPR NM_001003679.3(LEPR):c.536G>A (p.Gly179Asp) SNV Uncertain significance 297987 rs151190195 1:66058381-66058381 1:65592698-65592698
13 LEPR NM_001003679.3(LEPR):c.2397T>G (p.Asp799Glu) SNV Uncertain significance 297996 rs746887338 1:66085612-66085612 1:65619929-65619929
14 LEPR NM_001003679.3(LEPR):c.1166G>A (p.Ser389Asn) SNV Uncertain significance 297992 rs780534740 1:66067246-66067246 1:65601563-65601563
15 LEPR NM_001003679.3(LEPR):c.1246C>T (p.His416Tyr) SNV Uncertain significance 297993 rs144710810 1:66067326-66067326 1:65601643-65601643
16 LEPR NM_001003679.3(LEPR):c.666C>G (p.Phe222Leu) SNV Uncertain significance 297988 rs886046503 1:66058511-66058511 1:65592828-65592828
17 LEPR NM_002303.6(LEPR):c.36T>C (p.His12=) SNV Uncertain significance 727197 rs147768538 1:66031284-66031284 1:65565601-65565601
18 LEPR NM_002303.6(LEPR):c.2370A>C (p.Ser790=) SNV Uncertain significance 730209 rs13306528 1:66083804-66083804 1:65618121-65618121
19 LEPR NC_000001.11:g.65420651C>T SNV Uncertain significance 873954 1:65886334-65886334 1:65420651-65420651
20 LEPR NM_001003679.3(LEPR):c.2103C>T (p.Phe701=) SNV Uncertain significance 297995 rs755504289 1:66081798-66081798 1:65616115-65616115
21 LEPR NM_001003679.3(LEPR):c.716C>T (p.Pro239Leu) SNV Uncertain significance 297989 rs886046504 1:66062143-66062143 1:65596460-65596460
22 LEPR NM_002303.5(LEPR):c.*188A>C SNV Uncertain significance 298006 rs886046507 1:66102886-66102886 1:65637203-65637203
23 LEPR NM_002303.5(LEPR):c.2970C>G (p.Ile990Met) SNV Uncertain significance 297998 rs751719702 1:66102170-66102170 1:65636487-65636487
24 LEPR NM_002303.5(LEPR):c.3417A>G (p.Ala1139=) SNV Uncertain significance 36466 rs61781316 1:66102617-66102617 1:65636934-65636934
25 LEPR NM_001003679.3(LEPR):c.-20-15A>T SNV Uncertain significance 297985 rs116571599 1:66031214-66031214 1:65565531-65565531
26 LEPR NM_002303.5(LEPR):c.*201C>T SNV Uncertain significance 298007 rs577287309 1:66102899-66102899 1:65637216-65637216
27 LEPR NM_002303.5(LEPR):c.*403T>C SNV Uncertain significance 298009 rs375886561 1:66103101-66103101 1:65637418-65637418
28 LEPROT NM_017526.5(LEPROT):c.-8C>T SNV Uncertain significance 297983 rs189950527 1:65886400-65886400 1:65420717-65420717
29 LEPROT NM_017526.5(LEPROT):c.-49C>T SNV Uncertain significance 297981 rs372078226 1:65886359-65886359 1:65420676-65420676
30 LEPR NM_002303.5(LEPR):c.*112T>C SNV Uncertain significance 298005 rs886046506 1:66102810-66102810 1:65637127-65637127
31 LEPR NM_002303.5(LEPR):c.3078T>C (p.Asn1026=) SNV Uncertain significance 298001 rs34130975 1:66102278-66102278 1:65636595-65636595
32 LEPR NM_002303.5(LEPR):c.3114A>G (p.Ile1038Met) SNV Uncertain significance 298002 rs886046505 1:66102314-66102314 1:65636631-65636631
33 LEPROT NM_002303.6(LEPR):c.-162C>A SNV Uncertain significance 873955 1:65886358-65886358 1:65420675-65420675
34 LEPR NM_002303.6(LEPR):c.1018A>G (p.Ile340Val) SNV Uncertain significance 874014 1:66067098-66067098 1:65601415-65601415
35 LEPR NM_002303.6(LEPR):c.1030G>A (p.Val344Ile) SNV Uncertain significance 874015 1:66067110-66067110 1:65601427-65601427
36 LEPR NM_002303.6(LEPR):c.1040A>G (p.Asn347Ser) SNV Uncertain significance 874016 1:66067120-66067120 1:65601437-65601437
37 LEPR NM_002303.6(LEPR):c.1157A>G (p.Asp386Gly) SNV Uncertain significance 874017 1:66067237-66067237 1:65601554-65601554
38 LEPR NM_002303.6(LEPR):c.1299T>C (p.Asn433=) SNV Uncertain significance 874018 1:66067539-66067539 1:65601856-65601856
39 LEPR NM_002303.6(LEPR):c.3437A>T (p.Gln1146Leu) SNV Uncertain significance 874074 1:66102637-66102637 1:65636954-65636954
40 LEPR NM_002303.6(LEPR):c.*48G>C SNV Uncertain significance 874075 1:66102746-66102746 1:65637063-65637063
41 LEPR NM_002303.6(LEPR):c.*99A>G SNV Uncertain significance 874076 1:66102797-66102797 1:65637114-65637114
42 LEPROT NM_002303.6(LEPR):c.-51T>G SNV Uncertain significance 874897 1:65891031-65891031 1:65425348-65425348
43 LEPR NM_002303.6(LEPR):c.1341C>T (p.Cys447=) SNV Uncertain significance 874950 1:66067581-66067581 1:65601898-65601898
44 LEPR NM_002303.6(LEPR):c.1374G>A (p.Ala458=) SNV Uncertain significance 874951 1:66067614-66067614 1:65601931-65601931
45 LEPR NM_002303.6(LEPR):c.1413T>A (p.Leu471=) SNV Uncertain significance 874952 1:66070730-66070730 1:65605047-65605047
46 LEPR NM_002303.6(LEPR):c.1635A>G (p.Ala545=) SNV Uncertain significance 874953 1:66074467-66074467 1:65608784-65608784
47 LEPR NM_002303.6(LEPR):c.1701C>T (p.Asn567=) SNV Uncertain significance 874954 1:66074533-66074533 1:65608850-65608850
48 LEPR NM_002303.6(LEPR):c.2046C>T (p.Asn682=) SNV Uncertain significance 874955 1:66081741-66081741 1:65616058-65616058
49 LEPR NM_002303.6(LEPR):c.*153A>G SNV Uncertain significance 875003 1:66102851-66102851 1:65637168-65637168
50 LEPR NM_002303.6(LEPR):c.*251G>T SNV Uncertain significance 875005 1:66102949-66102949 1:65637266-65637266
Sources

Expression for Leptin Receptor Deficiency

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

Pathways for Leptin Receptor Deficiency

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Pathways related to Leptin Receptor Deficiency according to KEGG:

36
# Name Kegg Source Accession
1 Neuroactive ligand-receptor interaction hsa04080
2 Adipocytokine signaling pathway hsa04920
3 JAK-STAT signaling pathway hsa04630
4 AMPK signaling pathway hsa04152
5 Cytokine-cytokine receptor interaction hsa04060
Sources

GO Terms for Leptin Receptor Deficiency

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Sources

Sources for Leptin Receptor Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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