LEPRD
MCID: LPT006
MIFTS: 48

Leptin Receptor Deficiency (LEPRD)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Leptin Receptor Deficiency

MalaCards integrated aliases for Leptin Receptor Deficiency:

Name: Leptin Receptor Deficiency 56 25 73 36 29 6 71
Obesity, Morbid, Due to Leptin Receptor Deficiency 56 25 13
Obesity Due to Leptin Receptor Gene Deficiency 25 58
Leprd 56 73
Morbid Obesity Due to Leptin Receptor Deficiency 73
Congenital Deficiency of the Leptin Receptor 25
Leptin Receptor-Related Monogenic Obesity 25
Obesity, Morbid, Nonsyndromic 2 25
Non-Syndromic Morbid Obesity 2 73
Deficiency, Leptin Receptor 39
Obesity, Morbid 56

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
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:

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


Summaries for Leptin Receptor Deficiency

Genetics Home Reference : 25 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 body mass index quantitative trait locus 11. 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 Octreotide and Nadroparin have been mentioned in the context of this disorder. Affiliated tissues include liver, pituitary and t cells, and related phenotypes are obesity and decreased serum leptin

OMIM : 56 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)

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...

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 65)
# Related Disease Score Top Affiliating Genes
1 leptin deficiency or dysfunction 29.0 LEPROT LEPR
2 body mass index quantitative trait locus 11 28.6 LEPROT LEPR
3 morbid obesity and spermatogenic failure 11.5
4 body mass index quantitative trait locus 9 10.5
5 body mass index quantitative trait locus 8 10.5
6 body mass index quantitative trait locus 4 10.5
7 body mass index quantitative trait locus 10 10.5
8 body mass index quantitative trait locus 7 10.5
9 body mass index quantitative trait locus 12 10.5
10 body mass index quantitative trait locus 14 10.5
11 body mass index quantitative trait locus 18 10.5
12 body mass index quantitative trait locus 19 10.5
13 body mass index quantitative trait locus 20 10.5
14 hyperglycemia 10.2
15 fatty liver disease, nonalcoholic 1 10.1
16 glucose intolerance 10.1
17 non-alcoholic fatty liver disease 10.0
18 hyperinsulinism 10.0
19 fatty liver disease 10.0
20 body mass index quantitative trait locus 1 10.0
21 bone resorption disease 10.0
22 breast cancer 9.8
23 osteoporosis 9.8
24 bone mineral density quantitative trait locus 8 9.8
25 microvascular complications of diabetes 3 9.8
26 microvascular complications of diabetes 4 9.8
27 microvascular complications of diabetes 6 9.8
28 microvascular complications of diabetes 7 9.8
29 bone mineral density quantitative trait locus 15 9.8
30 peripheral vascular disease 9.8
31 limb ischemia 9.8
32 sclerosteosis 9.8
33 hypogonadotropic hypogonadism 9.8
34 diabetic autonomic neuropathy 9.8
35 autonomic neuropathy 9.8
36 diabetic cataract 9.8
37 vascular disease 9.8
38 hypogonadism 9.8
39 lipid metabolism disorder 9.8
40 ischemia 9.8
41 myocarditis 9.8
42 vascular dementia 9.8
43 degenerative disc disease 9.8
44 cytokine deficiency 9.8
45 autonomic dysfunction 9.8
46 hypoxia 9.8
47 genetic obesity 9.8
48 sleep apnea 9.7
49 hereditary lymphedema i 9.7
50 bone disease 9.7

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 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 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
18 recurrent upper respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0002788
19 accelerated skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0005616
20 emotional lability 58 31 frequent (33%) Frequent (79-30%) HP:0000712
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 growth hormone deficiency 31 HP:0000824
28 decreased testosterone in males 58 Very frequent (99-80%)
29 immune dysregulation 31 HP:0002958
30 decreased proportion of cd4-positive t cells 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Leptin Receptor Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 LEPR LEPROT

Drugs & Therapeutics for Leptin Receptor Deficiency

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

(show top 50) (show all 319)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
2
Nadroparin Approved, Investigational Phase 4
3
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
4
Ibuprofen Approved Phase 4 15687-27-1 3672
5
chenodeoxycholic acid Approved Phase 4 474-25-9 10133
6
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
7
Cefazolin Approved Phase 4 25953-19-9 656510 33255
8
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
9
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 11953898
10
Morphine Approved, Investigational Phase 4 57-27-2 5288826
11
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
12
Anidulafungin Approved, Investigational Phase 4 166663-25-8 166548
13
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
14
Atorvastatin Approved Phase 4 134523-00-5 60823
15
Micafungin Approved, Investigational Phase 4 235114-32-6 477468 3081921
16
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
17
Liraglutide Approved Phase 4 204656-20-2 44147092
18
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
19
Coal tar Approved Phase 4 8007-45-2
20
Amphotericin B Approved, Investigational Phase 4 1397-89-3 5280965 14956
21
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
22
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
23
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
24
Loperamide Approved Phase 4 53179-11-6 3955
25
Clarithromycin Approved Phase 4 81103-11-9 84029
26
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
27
Bismuth subsalicylate Approved, Vet_approved Phase 4 14882-18-9 53629521
28
Remifentanil Approved Phase 4 132875-61-7 60815
29
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
30
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
31
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
32
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
33
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
34
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
35
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
36
Cobalamin Experimental Phase 4 13408-78-1 6857388
37 Colesevelam Hydrochloride Phase 4
38 Hypolipidemic Agents Phase 4
39 Lipid Regulating Agents Phase 4
40 Anticholesteremic Agents Phase 4
41 Antimetabolites Phase 4
42 Adrenergic alpha-Agonists Phase 4
43 Adrenergic Agonists Phase 4
44 Hormones Phase 4
45 Analgesics Phase 4
46 Analgesics, Non-Narcotic Phase 4
47 Cyclooxygenase Inhibitors Phase 4
48 Antirheumatic Agents Phase 4
49 Anti-Inflammatory Agents Phase 4
50 Anti-Inflammatory Agents, Non-Steroidal Phase 4

Interventional clinical trials:

(show top 50) (show all 598)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 Gut Hormones as Mediators of Different Weight Loss Responses After Roux-en-Y Gastric Bypass Unknown status NCT02374632 Phase 4
5 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
6 Correlation of Postoperative VAS Values and Body Mass Index in Patients Undergoing Abdominal Surgery: A Clinical Trial Unknown status NCT02017314 Phase 4 Morphine
7 A Study of the Pharmacokinetics of Dexmedetomidine in Morbid Obesity. Unknown status NCT01864187 Phase 4 Dexmedetomidine
8 International, Multi Centre, Open, Prospective, Randomized Study: Banded Versus Conventional Laparoscopic Roux-en-Y (GABY) Unknown status NCT01015469 Phase 4
9 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
10 Prospective Randomized Study of Effects of Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Sleeve Gastrectomy Unknown status NCT00667706 Phase 4
11 Pharmacokinetics (PK) of Propofol in Bariatric (Morbidly Obese) Patients Completed NCT01536002 Phase 4 Propofol
12 Pharmacokinetics of Intravenous Acetaminophen and Its Metabolites in Morbidly Obese Patients Completed NCT01764555 Phase 4 acetaminophen 2 g
13 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
14 CYP3A4 Metabolism Before and After Surgery Induced Weight Loss in Morbidly Obese Patients Using Midazolam as a Model Drug Completed NCT01519726 Phase 4 Midazolam
15 Randomized Clinical Trial Between Laparoscopic Gastric Bypass and Laparoscopic Vertical Banded Gastroplasty for Morbid Obesity Completed NCT01639677 Phase 4
16 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
17 Comparisons of iv Ibuprofen and iv Paracetamol for Postoperative Pain Levels and Opioid Consumption During Bariatric Surgery Completed NCT02778958 Phase 4 paracetamol;ibuprofen
18 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
19 Investigations on the Influence of Bariatric Surgery on the Metabolism and Absorption of Atorvastatin Completed NCT00331565 Phase 4
20 Vitamin Deficiencies and Suppletion in Morbid Obesity Completed NCT02270749 Phase 4 Hydroxocobalamin;FitForMe vitamin B12
21 Micafungin (Mycamine®) Pharmacokinetics Given as a Single Intravenous Dose to Obese Patients (MICADO). Completed NCT03102658 Phase 4 Micafungin
22 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
23 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
24 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
25 A Prospective Randomized Clinical Trial Evaluating Surgical Conditions During Laparoscopic Bariatric Surgery With Deep Versus Moderate Neuromuscular Blockade Completed NCT02703909 Phase 4 Rocuronium
26 Efficacy and Tolerability of Garcinia Mangostana Extracts in the Management of Weight Loss in Severe Obese Patients Completed NCT02823561 Phase 4
27 Clinical, Microbial and Biochemistry Evaluation of Obese Individuals Submitted to One-stage Full-mouth Disinfection. A Clinical Control Parallel Study Completed NCT03103204 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 Increased Cefazolin (Ancef) Dosing for Prophylaxis During Cesarean Delivery in the Obese Population Completed NCT02049944 Phase 4 Cefazolin
30 Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot) Completed NCT02959853 Phase 4 Anastrazole
31 Population Pharmacokinetics and Pharmacodynamics of Propofol in the Morbidly Obese Patient Completed NCT00395681 Phase 4 Diprivan
32 Intravenous Ibuprofen for Laparoscopic Bariatric Surgery Completed NCT01707251 Phase 4 Intravenous Ibuprofen;Saline
33 Effectiveness and Tolerability of Phentermine in the Reduction of Intrahepatic Fat Infiltration, Adipose Tissue and Postoperative Complications in Patients Under Bariatric Surgery Recruiting NCT03849729 Phase 4 Phentermine
34 Quadratus Lumborum II Block vs Conventional Therapy Alone For Laparoscopic Sleeve Gastrectomy Recruiting NCT04073056 Phase 4 Bupivacaine
35 THE EFFECT OF HELICOBACTER PYLORI ERADICATION THERAPY TO GASTRIC WALL THICKNESS BEFORE THE LAPAROSCOPIC SLEEVE GASTRECTOMY Active, not recruiting NCT03757650 Phase 4 Bismuth Subsalicylate
36 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. Active, not recruiting NCT03946657 Phase 4 Inhalational anesthetic;Intravenous anesthetic
37 ED90 for Hyperbaric Bupivacaine in Spinal Anesthesia for Cesarean Delivery in Super Obese Parturients Suspended NCT03781388 Phase 4 Bupivacaine
38 A Randomized Controlled Trial for Epidural Labor Analgesia: Comparison of Dural Puncture Epidural With Standard Labor Epidural Techniques Suspended NCT03074695 Phase 4 Dural puncture epidural (DPE);Standard Epidural (EPL)
39 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
40 Bariatric Surgery Plus Weight Watchers vs. Weight Watchers in Underserved Minorities: Randomized Controlled Cross-over Trial Withdrawn NCT01929850 Phase 4
41 Effects of Ketamine on Recovery From Bariatric Surgery Unknown status NCT01724983 Phase 3 ketamine;fentanyl
42 Laparoscopic Adjustable Gastric Banding for Treatment of Morbid Obesity in Adolescents Unknown status NCT01619488 Phase 3
43 Stapled vs Hand Sewn Anastomosis in Roux en Y Gastric Bypass for Morbid Obesity: Randomized Clinical Trial Unknown status NCT02077517 Phase 3
44 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
45 Bariatric Arterial Embolization for Morbid Obesity Unknown status NCT02786108 Phase 3
46 A Randomized Comparative Study on Proseal LMATM and Supreme LMATM for Bariatric Surgery. Unknown status NCT01724970 Phase 3
47 Randomized Prospective Clinical Study Evaluating the Usefulness of Fibrin Glue (TISSEEL® KIT) to Prevent Gastric Fistula, Intra Abdominal Haemorrhage and Intra Abdominal Loco Regional Collections After Laparoscopic Sleeve Gastrectomy Unknown status NCT01613664 Phase 3 tisseel
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 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
50 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;Sugammadex;Neostigmine;Neostigmine;Sugammadex;Sugammadex;Neostigmine;Neostigmine

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 Leptin Receptor Deficiency 29 LEPR

Anatomical Context for Leptin Receptor Deficiency

MalaCards organs/tissues related to Leptin Receptor Deficiency:

40
Liver, Pituitary, T Cells, Brain, Kidney, Lung, Testes

Publications for Leptin Receptor Deficiency

Articles related to Leptin Receptor Deficiency:

(show top 50) (show all 67)
# Title Authors PMID Year
1
A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. 56 6
9537324 1998
2
Potential role of gender specific effect of leptin receptor deficiency in an extended consanguineous family with severe early-onset obesity. 61 56
29545012 2018
3
Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor. 61 56
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. 56
7585223 1995
6
Increased obese mRNA expression in omental fat cells from massively obese humans. 56
7585224 1995
7
Increased expression in adipocytes of ob RNA in mice with lesions of the hypothalamus and with mutations at the db locus. 56
7624352 1995
8
Intervertebral disc degeneration in mice with type II diabetes induced by leptin receptor deficiency. 61
32024487 2020
9
Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics. 61
31658438 2020
10
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
11
Elevated expression of the leptin receptor ob‑R may contribute to inflammation in patients with ulcerative colitis. 61
31702041 2019
12
Melanocortin-4 Receptor Signalling: Importance for Weight Regulation and Obesity Treatment. 61
30642682 2019
13
Leptin receptor deficiency induces early, transient and hyperglycaemia-independent blood-brain barrier dysfunction. 61
30814586 2019
14
Rodent models of leptin receptor deficiency are less sensitive to amylin. 61
30133304 2018
15
Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency. 61
29568105 2018
16
MC4R agonism promotes durable weight loss in patients with leptin receptor deficiency. 61
29736023 2018
17
Brown adipose tissue whitening leads to brown adipocyte death and adipose tissue inflammation. 61
29599420 2018
18
Deficiency of leptin receptor in myeloid cells disrupts hypothalamic metabolic circuits and causes body weight increase. 61
29174000 2018
19
Whole-Body Vibration Mimics the Metabolic Effects of Exercise in Male Leptin Receptor-Deficient Mice. 61
28323991 2017
20
Validity of leptin receptor-deficiency (db/db) type 2 diabetes mellitus mice as a model of secondary osteoporosis. 61
27283954 2016
21
HDAC5 Inhibits Hepatic Lipogenic Genes Expression by Attenuating the Transcriptional Activity of Liver X Receptor. 61
27614433 2016
22
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
23
Leptin's metabolic and immune functions can be uncoupled at the ligand/receptor interaction level. 61
25098352 2015
24
Chronic Oxytocin Administration as a Treatment Against Impaired Leptin Signaling or Leptin Resistance in Obesity. 61
26300847 2015
25
The daidzein- and estradiol- induced anorectic action in CCK or leptin receptor deficiency rats. 61
25765851 2015
26
Leptin receptor deficiency confers resistance to behavioral effects of fluoxetine and desipramine via separable substrates. 61
25463972 2014
27
HGK/MAP4K4 deficiency induces TRAF2 stabilization and Th17 differentiation leading to insulin resistance. 61
25098764 2014
28
Leptin signaling in astrocytes regulates hypothalamic neuronal circuits and feeding. 61
24880214 2014
29
Leptin- and leptin receptor-deficient rodent models: relevance for human type 2 diabetes. 61
24809394 2014
30
Reproductive function of the male obese Zucker rats: alteration in sperm production and sperm DNA damage. 61
23800399 2014
31
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
32
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
33
Leptin modulates dose-dependently the metabolic and cytolytic activities of NK-92 cells. 61
23129404 2013
34
Clusterin and LRP2 are critical components of the hypothalamic feeding regulatory pathway. 61
23673647 2013
35
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
36
Increased central and peripheral inflammation and inflammatory hyperalgesia in Zucker rat model of leptin receptor deficiency and genetic obesity. 61
22523380 2012
37
Haematopoietic leptin receptor deficiency does not affect macrophage accumulation in adipose tissue or systemic insulin sensitivity. 61
22194312 2012
38
Neuropeptide Y and agouti-related peptide mediate complementary functions of hyperphagia and reduced energy expenditure in leptin receptor deficiency. 61
21285324 2011
39
Pancreatic neuronal melanocortin-4 receptor modulates serum insulin levels independent of leptin receptor. 61
20963574 2010
40
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
41
Leptin resistance: a prediposing factor for diet-induced obesity. 61
19091915 2009
42
The role of leptin-melanocortin system and human weight regulation: lessons from experiments of nature. 61
19221669 2009
43
Hyperphagia and obesity produced by arcuate injection of NPY-saporin do not require upregulation of lateral hypothalamic orexigenic peptide genes. 61
18577407 2008
44
Leptin receptor deficiency is associated with upregulation of cannabinoid 1 receptors in limbic brain regions. 61
18563836 2008
45
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
46
Social isolation affects the development of obesity and type 2 diabetes in mice. 61
17640995 2007
47
Swim training improves leptin receptor deficiency-induced obesity and lipid disorder by activating uncoupling proteins. 61
17603293 2007
48
Leptin: nourishment for the immune system. 61
17125140 2006
49
Indirect effects of leptin receptor deficiency on lymphocyte populations and immune response in db/db mice. 61
16920925 2006
50
Liver PPARalpha and UCP2 are involved in the regulation of obesity and lipid metabolism by swim training in genetically obese db/db mice. 61
16716264 2006

Variations for Leptin Receptor Deficiency

ClinVar genetic disease variations for Leptin Receptor Deficiency:

6 (show top 50) (show all 79) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LEPR NM_001003679.3(LEPR):c.464A>C (p.Tyr155Ser)SNV Pathogenic 619954 rs1557670950 1:66038102-66038102 1:65572419-65572419
2 LEPR deletion Pathogenic 666597 1:66038010-66067366
3 LEPR NM_002303.5(LEPR):c.3260_3261AG[6] (p.Ser1090fs)short repeat Pathogenic 453309 rs1553174844 1:66102459-66102460 1:65636776-65636777
4 LEPR NM_002303.6(LEPR):c.2597+1G>ASNV Pathogenic 8522 1:66087142-66087142 1:65621459-65621459
5 LEPR NM_002303.6(LEPR):c.36T>C (p.His12=)SNV Conflicting interpretations of pathogenicity 727197 1:66031284-66031284 1:65565601-65565601
6 LEPR NM_002303.6(LEPR):c.2370A>C (p.Ser790=)SNV Conflicting interpretations of pathogenicity 730209 1:66083804-66083804 1:65618121-65618121
7 LEPR NM_002303.5(LEPR):c.3417A>G (p.Ala1139=)SNV Conflicting interpretations of pathogenicity 36466 rs61781316 1:66102617-66102617 1:65636934-65636934
8 LEPR NM_002303.5(LEPR):c.3019A>T (p.Ser1007Cys)SNV Conflicting interpretations of pathogenicity 297999 rs145651189 1:66102219-66102219 1:65636536-65636536
9 LEPR , LEPROT NM_017526.5(LEPROT):c.21C>T (p.Leu7=)SNV Conflicting interpretations of pathogenicity 297984 rs13306523 1:65890990-65890990 1:65425307-65425307
10 LEPR NM_001003679.3(LEPR):c.666C>G (p.Phe222Leu)SNV Uncertain significance 297988 rs886046503 1:66058511-66058511 1:65592828-65592828
11 LEPR NM_002303.5(LEPR):c.3114A>G (p.Ile1038Met)SNV Uncertain significance 298002 rs886046505 1:66102314-66102314 1:65636631-65636631
12 LEPR NM_002303.5(LEPR):c.*188A>CSNV Uncertain significance 298006 rs886046507 1:66102886-66102886 1:65637203-65637203
13 LEPR NM_017526.5(LEPROT):c.-49C>TSNV Uncertain significance 297981 rs372078226 1:65886359-65886359 1:65420676-65420676
14 LEPR NM_017526.5(LEPROT):c.-8C>TSNV Uncertain significance 297983 rs189950527 1:65886400-65886400 1:65420717-65420717
15 LEPR NM_001003679.3(LEPR):c.-20-15A>TSNV Uncertain significance 297985 rs116571599 1:66031214-66031214 1:65565531-65565531
16 LEPR NM_001003679.3(LEPR):c.921G>C (p.Gln307His)SNV Uncertain significance 297990 rs531183918 1:66064414-66064414 1:65598731-65598731
17 LEPR NM_001003679.3(LEPR):c.1246C>T (p.His416Tyr)SNV Uncertain significance 297993 rs144710810 1:66067326-66067326 1:65601643-65601643
18 LEPR NM_001003679.3(LEPR):c.2103C>T (p.Phe701=)SNV Uncertain significance 297995 rs755504289 1:66081798-66081798 1:65616115-65616115
19 LEPR NM_002303.5(LEPR):c.3078T>C (p.Asn1026=)SNV Uncertain significance 298001 rs34130975 1:66102278-66102278 1:65636595-65636595
20 LEPR NM_002303.5(LEPR):c.3479T>C (p.Met1160Thr)SNV Uncertain significance 298003 rs145685060 1:66102679-66102679 1:65636996-65636996
21 LEPR NM_002303.5(LEPR):c.*112T>CSNV Uncertain significance 298005 rs886046506 1:66102810-66102810 1:65637127-65637127
22 LEPR NM_001003679.3(LEPR):c.371A>G (p.Asp124Gly)SNV Uncertain significance 297986 rs35573508 1:66038009-66038009 1:65572326-65572326
23 LEPR NM_001003679.3(LEPR):c.536G>A (p.Gly179Asp)SNV Uncertain significance 297987 rs151190195 1:66058381-66058381 1:65592698-65592698
24 LEPR NM_001003679.3(LEPR):c.1166G>A (p.Ser389Asn)SNV Uncertain significance 297992 rs780534740 1:66067246-66067246 1:65601563-65601563
25 LEPR NM_002303.5(LEPR):c.2698A>G (p.Ile900Val)SNV Uncertain significance 297997 rs142647085 1:66101898-66101898 1:65636215-65636215
26 LEPR NM_002303.5(LEPR):c.*201C>TSNV Uncertain significance 298007 rs577287309 1:66102899-66102899 1:65637216-65637216
27 LEPR NM_001003679.3(LEPR):c.716C>T (p.Pro239Leu)SNV Uncertain significance 297989 rs886046504 1:66062143-66062143 1:65596460-65596460
28 LEPR NM_001003679.3(LEPR):c.1411C>A (p.Leu471Ile)SNV Uncertain significance 297994 rs143319015 1:66070728-66070728 1:65605045-65605045
29 LEPR NM_001003679.3(LEPR):c.2397T>G (p.Asp799Glu)SNV Uncertain significance 297996 rs746887338 1:66085612-66085612 1:65619929-65619929
30 LEPR NM_002303.5(LEPR):c.2970C>G (p.Ile990Met)SNV Uncertain significance 297998 rs751719702 1:66102170-66102170 1:65636487-65636487
31 LEPR NM_002303.5(LEPR):c.*403T>CSNV Uncertain significance 298009 rs375886561 1:66103101-66103101 1:65637418-65637418
32 LEPR NM_002303.6(LEPR):c.*251G>TSNV Uncertain significance 875005 1:66102949-66102949 1:65637266-65637266
33 LEPR NM_002303.6(LEPR):c.*287G>CSNV Uncertain significance 875006 1:66102985-66102985 1:65637302-65637302
34 LEPR NM_002303.6(LEPR):c.*453C>TSNV Uncertain significance 875007 1:66103151-66103151 1:65637468-65637468
35 LEPR NC_000001.11:g.65420651C>TSNV Uncertain significance 873954 1:65886334-65886334 1:65420651-65420651
36 LEPR NM_002303.6(LEPR):c.371-9T>ASNV Uncertain significance 875834 1:66038000-66038000 1:65572317-65572317
37 LEPR NM_002303.6(LEPR):c.704-8T>CSNV Uncertain significance 876825 1:66062123-66062123 1:65596440-65596440
38 LEPR NM_002303.6(LEPR):c.-162C>ASNV Uncertain significance 873955 1:65886358-65886358 1:65420675-65420675
39 LEPR NM_002303.6(LEPR):c.-51T>GSNV Uncertain significance 874897 1:65891031-65891031 1:65425348-65425348
40 LEPR NM_002303.6(LEPR):c.260T>C (p.Phe87Ser)SNV Uncertain significance 875831 1:66036375-66036375 1:65570692-65570692
41 LEPR NM_002303.6(LEPR):c.299C>G (p.Ser100Cys)SNV Uncertain significance 875832 1:66036414-66036414 1:65570731-65570731
42 LEPR NM_002303.6(LEPR):c.345A>G (p.Val115=)SNV Uncertain significance 875833 1:66036460-66036460 1:65570777-65570777
43 LEPR NM_002303.6(LEPR):c.594G>A (p.Val198=)SNV Uncertain significance 875835 1:66058439-66058439 1:65592756-65592756
44 LEPR NM_002303.6(LEPR):c.611A>G (p.Lys204Arg)SNV Uncertain significance 876823 1:66058456-66058456 1:65592773-65592773
45 LEPR NM_002303.6(LEPR):c.691C>T (p.Pro231Ser)SNV Uncertain significance 876824 1:66058536-66058536 1:65592853-65592853
46 LEPR NM_002303.6(LEPR):c.806A>G (p.Tyr269Cys)SNV Uncertain significance 876826 1:66062233-66062233 1:65596550-65596550
47 LEPR NM_002303.6(LEPR):c.1018A>G (p.Ile340Val)SNV Uncertain significance 874014 1:66067098-66067098 1:65601415-65601415
48 LEPR NM_002303.6(LEPR):c.1030G>A (p.Val344Ile)SNV Uncertain significance 874015 1:66067110-66067110 1:65601427-65601427
49 LEPR NM_002303.6(LEPR):c.1040A>G (p.Asn347Ser)SNV Uncertain significance 874016 1:66067120-66067120 1:65601437-65601437
50 LEPR NM_002303.6(LEPR):c.1157A>G (p.Asp386Gly)SNV Uncertain significance 874017 1:66067237-66067237 1:65601554-65601554

Expression for Leptin Receptor Deficiency

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

Pathways for Leptin Receptor Deficiency

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

GO Terms for Leptin Receptor Deficiency

Sources for Leptin Receptor Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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