Leptin Receptor Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

LEPRD MCID: LPT006 MIFTS: 53	Leptin Receptor Deficiency (LEPRD) Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Reproductive diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Endocrine, nutritional and metabolic diseases

Obesity and other hyperalimentation

Obesity

Other obesity

Orphanet: ⁵⁸

Rare infertility disorders

Rare gynaecological and obstetric diseases

Rare endocrine diseases

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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.

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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
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:

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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)

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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

Nadroparin

Approved, Investigational

Phase 4

Octreotide

Approved, Investigational

Phase 4

83150-76-9

383414 6400441

Loperamide

Approved

Phase 4

53179-11-6

3955

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 4

437-38-7

3345

Rocuronium

Approved

Phase 4

119302-91-9, 143558-00-3

441290

Remifentanil

Approved

Phase 4

132875-61-7

60815

Cefazolin

Approved

Phase 4

25953-19-9

33255

Anidulafungin

Approved, Investigational

Phase 4

166663-25-8

166548

Miconazole

Approved, Investigational, Vet_approved

Phase 4

22916-47-8

4189

Clotrimazole

Approved, Vet_approved

Phase 4

23593-75-1

2812

Chenodeoxycholic acid

Approved

Phase 4

474-25-9

10133

Midazolam

Approved, Illicit

Phase 4

59467-70-8

4192

Mecobalamin

Approved, Investigational

Phase 4

13422-55-4

Hydroxocobalamin

Approved

Phase 4

13422-51-0

15589840 44475014

Amoxicillin

Approved, Vet_approved

Phase 4

26787-78-0

33613

Bismuth subsalicylate

Approved, Vet_approved

Phase 4

14882-18-9

53629521 16682734

Clarithromycin

Approved

Phase 4

81103-11-9

84029

Chlorhexidine

Approved, Vet_approved, Withdrawn

Phase 4

55-56-1

2713 9552079

Coal tar

Approved

Phase 4

8007-45-2

Ropivacaine

Approved

Phase 4

84057-95-4

71273 175805

Ursodeoxycholic acid

Approved, Investigational

Phase 4

128-13-2

31401

Micafungin

Approved, Investigational

Phase 4

235114-32-6

477468

Anastrozole

Approved, Investigational

Phase 4

120511-73-1

2187

Amphotericin B

Approved, Investigational

Phase 4

1397-89-3

5280965

Posaconazole

Approved, Investigational, Vet_approved

Phase 4

171228-49-2

147912

Atorvastatin

Approved

Phase 4

134523-00-5

60823

Sevoflurane

Approved, Vet_approved

Phase 4

28523-86-6

5206

Risedronic acid

Approved, Investigational

Phase 4

105462-24-6

5245

Morphine

Approved, Investigational

Phase 4

57-27-2

5288826

Propofol

Approved, Investigational, Vet_approved

Phase 4

2078-54-8

4943

Bupivacaine

Approved, Investigational

Phase 4

2180-92-9, 38396-39-3

2474

Lorazepam

Approved

Phase 4

846-49-1

3958

Acetaminophen

Approved

Phase 4

103-90-2

1983

Cathine

Approved, Experimental, Illicit, Vet_approved, Withdrawn

Phase 4

14838-15-4, 492-39-7

131954576 4786 26934

Cyclobenzaprine

Approved

Phase 4

303-53-7

2895

Guaifenesin

Approved, Investigational, Vet_approved

Phase 4

93-14-1

3516

Ondansetron

Approved, Withdrawn

Phase 4

99614-02-5

4595

Gabapentin

Approved, Investigational

Phase 4

60142-96-3

3446

Hydromorphone

Approved, Illicit

Phase 4

466-99-9, 71-68-1

5284570

Hydrocodone

Approved, Illicit, Investigational

Phase 4

125-29-1

5284569

Oxycodone

Approved, Illicit, Investigational

Phase 4

76-42-6

5284603

Scopolamine

Approved, Investigational

Phase 4

51-34-3

153311 3000322

Dopamine

Approved

Phase 4

62-31-7, 51-61-6

681

Ethanol

Approved

Phase 4

64-17-5

702

Bupropion

Approved

Phase 4

31677-93-7, 34841-39-9, 34911-55-2

444

Naltrexone

Approved, Investigational, Vet_approved

Phase 4

16590-41-3

5360515

Vitamin A

Approved, Nutraceutical, Vet_approved

Phase 4

22737-96-8, 68-26-8

5280382 445354

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 4

59-30-3

6037

Cyanocobalamin

Approved, Nutraceutical

Phase 4

68-19-9

24892734 16212801 44176380

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

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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

Sources

Anatomical Context for Leptin Receptor Deficiency

Organs/tissues related to Leptin Receptor Deficiency:

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

Sources

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	Farooqi IS...O'Rahilly S	17229951	2007
2	A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. ⁶² ⁵⁷ ⁵	Clement K...Guy-Grand B	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	Dehghani MR...Maroofian R	29545012	2018
4	Novel variants in the MC4R and LEPR genes among severely obese children from the Iberian population. ⁵	Albuquerque D...Rodriguez-Lopez R	24611737	2014
5	Functional characterization of naturally occurring pathogenic mutations in the human leptin receptor. ⁵	Kimber W...Farooqi IS	18703626	2008
6	Complete rescue of obesity, diabetes, and infertility in db/db mice by neuron-specific LEPR-B transgenes. ⁵	de Luca C...Chua SC	16284652	2005
7	Overexpression of the obese (ob) gene in adipose tissue of human obese subjects. ⁵⁷	Lonnqvist F...Schalling M	7585223	1995
8	Increased obese mRNA expression in omental fat cells from massively obese humans. ⁵⁷	Hamilton BS...Deitel M	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	Maffei M...Friedman JM	7624352	1995
10	Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6-Associated Syndrome: A Case Report. ⁶²	Yeetong P...Shotelersuk V	36457943	2023
11	Early metabolomic, lipid and lipoprotein changes in response to medical and surgical therapeutic approaches to obesity. ⁶²	Angelidi AM...Mantzoros CS	36375643	2023
12	Risk factors for the development of a peri-prosthetic joint infection up to 2 Years following primary reverse shoulder arthroplasty. ⁶²	Walocha D...Choueka J	36411844	2023
13	Demographic, Reproductive, and Medical Risk Factors for Intrauterine Device Expulsion. ⁶²	Anthony MS...Pisa F	36357958	2022
14	Changes in circulating sirtuin 1 after bariatric surgery. ⁶²	Opstad TB...Aaseth JO	36404480	2022
15	Activities of Daily Living and Outcomes in Patients with Advanced Heart Failure. ⁶²	Roy AR...Dunlay SM	36063861	2022
16	The association between primary cesarean delivery in primipara and subsequent mode of conception, a retrospective study. ⁶²	Rottenstreich M...Sela HY	34872439	2022
17	A comparison of outcomes between class-II and class-III obese patients undergoing robotic ventral hernia repair: a multicenter study. ⁶²	Kudsi OY...Malcher F	35305193	2022
18	Institutional analysis of intra- and post-operative tracheostomy management for risk reduction. ⁶²	Henry LE...Rassekh CH	36474666	2022
19	Predictors of type-2 diabetes remission following bariatric surgery after a two-year follow-up. ⁶²	AbdAlla Salman M...Omar HSE	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	Erickson BA...Polgreen PM	36006046	2022
21	Effect of bariatric surgery on macular and peripapillary choroidal structures in young patients with morbid obesity. ⁶²	Ozcelik-Kose A...Yenerel NM	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	Gil-Lespinard M...Zamora-Ros R	36387986	2022
23	Laparoscopic surgery in 3D improves results and surgeon convenience in sleeve gastrectomy for morbid obesity. ⁶²	Martinez-Ubieto F...Martinez-Ubieto J	36180641	2022
24	Ultrasound patterns of venous disease in patients with venous leg ulcers and morbid obesity. ⁶²	Moss JL...Richards T	36259760	2022
25	Impact of sleeve gastrectomy on renal function in patients with morbid obesity: a 1-year prospective cohort study. ⁶²	Sanchez D...Voican CS	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	Schwenger KJP...Allard JP	36464738	2022
27	A case of giant necrotic spermatic cord lipoma found incidentally during recurrent inguinal hernia repair: A case report. ⁶²	Salita A...Wong K	36370603	2022
28	Management of Venous Thromboembolism in Morbid Obesity With Rivaroxaban or Warfarin. ⁶²	Weaver P...Giuliano C	35505606	2022
29	Setmelanotide: A Novel Targeted Treatment for Monogenic Obesity. ⁶²	Pressley H...Adams EN	36311304	2022
30	Metrnl ameliorates diabetic cardiomyopathy via inactivation of cGAS/STING signaling dependent on LKB1/AMPK/ULK1-mediated autophagy. ⁶²	Lu QB...Sun HJ	36334887	2022
31	Evaluation of Pharmacological Rescue of Melanocortin-4 Receptor Nonsense Mutations by Aminoglycoside. ⁶²	Hopfner F...Kuhnen P	36362948	2022
32	Class III obesity is an independent risk factor for unsuccessful induction of labor. ⁶²	Drummond R...Crimmins SD	36311296	2022
33	Does the use of BariBoard™ improve adequacy of chest compressions in morbid obesity? A pilot study using a simulation model. ⁶²	Goulding K...Secombe P	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	Hareni N...Karlsson MK	36445071	2022
35	Sleep Disorders Are Associated with Female Sexual Desire and Genital Response - A U.S. Claims Database Analysis. ⁶²	Agrawal P...Clifton M	36455681	2022
36	An Alternative Airway Intervention to Preserve the Surgical Field in Oral and Maxillofacial Surgery. ⁶²	Dowsett PA...Reebye UN	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	Mithany RH...Kaiser A	36398039	2022
38	Patient-specific stomach biomechanics before and after laparoscopic sleeve gastrectomy. ⁶²	Toniolo I...Carniel EL	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	Agbaht K...Piskinpasa SV	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	Chugh Y...Faillace RT	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	Seeberg KA...Hjelmesath J	36336684	2022
42	Associations between subcutaneous adipocyte hypertrophy and nonalcoholic fatty liver disease. ⁶²	Holmer M...Stal P	36443373	2022
43	Bariatric Surgery Lowers Rates of Spinal Symptoms and Spinal Surgery in a Morbidly Obese Population. ⁶²	Passias PG...Schoenfeld AJ	35550396	2022
44	Oxygen-induced hypercapnia: physiological mechanisms and clinical implications. ⁶²	Sarkar M...Kadakol N	36412131	2022
45	SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort. ⁶²	da Fonseca ACP...Bozza PT	36436143	2022
46	Siddha fasting in obese acute decompensated heart failure may improve hospital outcomes through empowerment and natural ketosis. ⁶²	Chockalingam A...Flaker G	34987003	2022
47	Oral health by obesity classification in young obese women - a cross-sectional study. ⁶²	Taghat N...Ostberg AL	35876084	2022
48	Factors associated with colorectal cancer screening adherence and the impact of COVID-19 on screening patterns in Connecticut, USA. ⁶²	Gangcuangco LMA...Costales VC	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	Erdem NZ...Avsar FM	36450844	2022
50	Stratified Preoperative A1c is not Significantly Associated With Clavien-Dindo Major Complications Following Bariatric Surgery in the MBSAQIP Database. ⁶²	Pina L...Daouadi M	36069148	2022

Sources

Genes for Leptin Receptor Deficiency

Genes related to Leptin Receptor Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	LEPR	Leptin Receptor	Protein Coding	1391.43	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation (loss of function) ⁵⁸ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders Publications (show sections)	9537324 16284652 17229951 (more) 18703626 24611737

Sources

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