LEPD
MCID: LPT014
MIFTS: 72

Leptin Deficiency or Dysfunction (LEPD)

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

Aliases & Classifications for Leptin Deficiency or Dysfunction

MalaCards integrated aliases for Leptin Deficiency or Dysfunction:

Name: Leptin Deficiency or Dysfunction 57 74 29 6 72
Morbid Obesity 12 29 6 15 17
Obesity Due to Congenital Leptin Deficiency 59 74
Obesity, Morbid, Due to Leptin Deficiency 57 13
Leptin Deficiency 74 37
Obesity, Morbid 57 44
Severe Obesity 12 15
Lepd 57 74
Morbid Obesity Due to Leptin Deficiency 74
Non-Syndromic Morbid Obesity 1 74
Leptin Dysfunction 6
Obesity Morbid 55
Leptin 17

Characteristics:

Orphanet epidemiological data:

59
obesity due to congenital leptin deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
some patients have a secreted but biologically inactive mutant leptin
hyperphagia and weight gain as well as immunologic abnormalities and hypogonadism can be reversed by exogenously administered recombinant leptin
patients do not exhibit risk factors for cardiovascular disease such as hypertension, lipid dysregulation, or hyperglycemia
immune and endocrine function may improve in some adult patients


HPO:

32
leptin deficiency or dysfunction:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:11981
OMIM 57 614962
KEGG 37 H02059
ICD9CM 35 278.01
MeSH 44 D009767
NCIt 50 C34858
ICD10 via Orphanet 34 E66.8
Orphanet 59 ORPHA66628
UMLS 72 C0028756 C3554224

Summaries for Leptin Deficiency or Dysfunction

KEGG : 37
Congenital leptin deficiency is a rare human genetic syndrome resulting in severe hyperphagia and early-onset obesity. Beneficial effects of leptin replacement therapy in this condition has been reported.

MalaCards based summary : Leptin Deficiency or Dysfunction, also known as morbid obesity, is related to lipodystrophy, congenital generalized, type 1 and obesity-hypoventilation syndrome, and has symptoms including obesity, metabolically benign An important gene associated with Leptin Deficiency or Dysfunction is LEP (Leptin), and among its related pathways/superpathways are Neuroactive ligand-receptor interaction and Adipocytokine signaling pathway. The drugs Nadroparin and Losartan have been mentioned in the context of this disorder. Affiliated tissues include liver, breast and bone, and related phenotypes are obesity and recurrent upper respiratory tract infections

OMIM : 57 Leptin deficiency is characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (Ozata et al., 1999). (614962)

UniProtKB/Swiss-Prot : 74 Leptin deficiency: A rare disease characterized by low levels of serum leptin, severe hyperphagia and intractable obesity from an early age.

Related Diseases for Leptin Deficiency or Dysfunction

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

(show top 50) (show all 1122)
# Related Disease Score Top Affiliating Genes
1 lipodystrophy, congenital generalized, type 1 31.1 LEP INS ADIPOQ
2 obesity-hypoventilation syndrome 31.0 RETN LEP ADIPOQ
3 fatty liver disease, nonalcoholic 1 31.0 RETN LEP INS ADIPOQ
4 gastroesophageal reflux 31.0 PYY GHRL GCG CCK
5 dumping syndrome 31.0 PYY INS GCG
6 familial partial lipodystrophy 30.9 PPARG LEP INS
7 gestational diabetes 30.6 RETN LEP INS ADRB3 ADIPOQ
8 severe pre-eclampsia 30.6 LEPR LEP ADIPOQ
9 hyperuricemia 30.6 INS CRP ADRB3
10 acanthosis nigricans 30.5 PPARG LEP INS ADIPOQ
11 atherosclerosis susceptibility 30.4 PPARG INS CRP ADIPOQ
12 abdominal obesity-metabolic syndrome 1 30.4 PPARG LEP INS ADIPOQ
13 apnea, obstructive sleep 30.4 LEP INS HCRT CRP ADIPOQ
14 nutritional deficiency disease 30.4 LEP GHRL CRP
15 hyperthyroidism 30.3 LEP INS GHRL
16 hyperglycemia 30.3 PPARG LEP INS GCG ADIPOQ
17 arteriosclerosis 30.3 PPARG INS CRP ADIPOQ
18 fatty liver disease 30.3 LEPR LEP INS ADIPOQ
19 liver disease 30.3 LEPR LEP INS ADIPOQ
20 anovulation 30.2 LEP INS CRP
21 idiopathic recurrent pericarditis 30.2 RETN LEP ADIPOQ
22 sleep disorder 30.2 LEP INS HCRT CRP
23 bulimia nervosa 30.2 PYY MC4R LEP GHRL CCK
24 proteasome-associated autoinflammatory syndrome 1 30.2 RETN PPARG INS CRP ADIPOQ
25 lipoblastoma 30.2 LEPR LEP
26 coronary heart disease 1 30.1 RETN LPL INS CRP ADIPOQ
27 hyperinsulinism 30.1 LEP INS GHRL
28 arteries, anomalies of 30.1 PPARG LEP INS CRP ADIPOQ
29 acute pancreatitis 30.0 LPL CRP CCK
30 myocardial infarction 30.0 RETN INS GHRL CRP ADIPOQ
31 acquired generalized lipodystrophy 30.0 RETN PPARG LEP INS ADIPOQ
32 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.0 INS ADIPOQ
33 short bowel syndrome 29.9 PYY GCG CCK
34 acute insulin response 29.9 INS GCG CRP
35 uremia 29.8 RETN LPL LEP INS CRP
36 pancreatitis 29.8 LPL CRP CCK
37 hypertension, essential 29.6 RETN LPL LEP INS ADRB3 ADIPOQ
38 vascular disease 29.5 RETN PPARG LPL INS CRP ADIPOQ
39 diabetes mellitus, insulin-dependent 29.5 INS GHRL GCG GAD2
40 cerebrovascular disease 29.5 INS CRP ADIPOQ
41 eating disorder 29.4 PYY MC4R LEPR LEP GHRL CCK
42 prediabetes syndrome 29.3 PPARG LEP INS GCG CRP ADIPOQ
43 anorexia nervosa 29.3 RETN PYY MC4R LEPR LEP HCRT
44 pancreas disease 29.2 LEP INS GCG CRP CCK
45 lipid metabolism disorder 29.1 RETN PPARG LPL LEP INS CRP
46 gastrointestinal system disease 29.1 PYY INS GHRL GCG CRP CCK
47 sleep apnea 29.1 LEPR LEP INS HCRT GHRL CRP
48 glucose intolerance 28.5 RETN PPARG LPL LEPR LEP INS
49 prader-willi syndrome 28.4 SIM1 RETN PYY MC4R LEPR LEP
50 diabetes mellitus 28.3 RETN PPARG LPL LEP INS GHRL

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



Diseases related to Leptin Deficiency or Dysfunction

Symptoms & Phenotypes for Leptin Deficiency or Dysfunction

Human phenotypes related to Leptin Deficiency or Dysfunction:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 59 32 obligate (100%) Obligate (100%) HP:0001513
2 recurrent upper respiratory tract infections 59 32 Frequent (79-30%) HP:0002788
3 primary amenorrhea 59 32 Very frequent (99-80%) HP:0000786
4 decreased testicular size 59 32 Very frequent (99-80%) HP:0008734
5 gynecomastia 59 32 Very frequent (99-80%) HP:0000771
6 polyphagia 59 32 Very frequent (99-80%) HP:0002591
7 decreased serum leptin 59 32 Obligate (100%) HP:0003292
8 hypertriglyceridemia 59 Frequent (79-30%)
9 hyperinsulinemia 59 Very frequent (99-80%)
10 hypogonadism 32 HP:0000135
11 hypergonadotropic hypogonadism 59 Very frequent (99-80%)
12 absence of secondary sex characteristics 59 Very frequent (99-80%)
13 micropenis 32 HP:0000054
14 recurrent pneumonia 32 HP:0006532
15 decreased proportion of cd4-positive t cells 59 Very frequent (99-80%)
16 accelerated skeletal maturation 59 Frequent (79-30%)
17 decreased serum estradiol 59 Very frequent (99-80%)
18 decreased t cell activation 59 Very frequent (99-80%)
19 decreased testosterone in males 59 Very frequent (99-80%)
20 hypoplasia of the ovary 59 Very frequent (99-80%)
21 insulin-resistant diabetes mellitus 59 Frequent (79-30%)
22 orthostatic hypotension due to autonomic dysfunction 59 Frequent (79-30%)
23 pituitary hypothyroidism 59 Frequent (79-30%)
24 recurrent ear infections 32 HP:0410018
25 abnormal eating behavior 32 HP:0100738

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
primary amenorrhea
small ovaries

Chest Breasts:
gynecomastia

Growth Weight:
normal birth weight
early-onset severe obesity

Genitourinary Internal Genitalia Male:
small testes

Abdomen Gastrointestinal:
hyperphagia

Respiratory Lung:
recurrent pulmonary infections

Skin Nails Hair Hair:
no beard
sparse pubic and axillary hair

Immunology:
frequent infections in childhood
reduced number of ct4+ t cells (in some patients)
increase in cd8+ t cells (in some patients)
increase in b cells (in some patients)
marked reduction in cd4+/cd8+ ratio (in some patients)
more
Genitourinary:
hypogonadism

Head And Neck Ears:
recurrent ear infections

Genitourinary External Genitalia Male:
small penis

Endocrine Features:
low testosterone levels
low estradiol levels
low serum leptin levels (in most patients)
high serum leptin levels (rare)
hypothalamic hypogonadism
more
Neurologic Behavioral Psychiatric Manifestations:
hyperphagia

Respiratory Nasopharynx:
frequent upper respiratory tract infections

Neurologic Peripheral Nervous System:
sympathetic system dysfunction

Clinical features from OMIM:

614962

UMLS symptoms related to Leptin Deficiency or Dysfunction:


obesity, metabolically benign

MGI Mouse Phenotypes related to Leptin Deficiency or Dysfunction:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.43 ADIPOQ ADRB3 CCK CRP FABP2 FTO
2 adipose tissue MP:0005375 10.41 ADIPOQ ADRB3 FABP2 FTO GHRL INS
3 behavior/neurological MP:0005386 10.37 ADIPOQ ADRB3 FTO GAD2 GHRL HCRT
4 growth/size/body region MP:0005378 10.35 ADIPOQ ADRB3 FABP2 FTO GAD2 HCRT
5 endocrine/exocrine gland MP:0005379 10.24 ADIPOQ ADRB3 CCK FTO GAD2 GHRL
6 immune system MP:0005387 10.17 ADIPOQ CRP FTO GAD2 INS LEP
7 cardiovascular system MP:0005385 10.16 ADIPOQ CRP HCRT INS LEP LEPR
8 liver/biliary system MP:0005370 10.1 ADIPOQ FABP2 FTO INS LEP LEPR
9 nervous system MP:0003631 10.06 ADIPOQ CCK GAD2 HCRT INS LEP
10 muscle MP:0005369 9.97 ADIPOQ GAD2 HCRT INS LEP LEPR
11 normal MP:0002873 9.86 GAD2 GHRL INS LEPR MC4R PPARG
12 renal/urinary system MP:0005367 9.81 ADIPOQ CCK FABP2 FTO INS LEP
13 respiratory system MP:0005388 9.5 ADIPOQ GAD2 HCRT LEP LEPR LPL
14 skeleton MP:0005390 9.28 ADIPOQ FTO INS LEP LEPR MC3R

Drugs & Therapeutics for Leptin Deficiency or Dysfunction

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

(show top 50) (show all 621)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nadroparin Approved, Investigational Phase 4
2
Losartan Approved Phase 4 114798-26-4 3961
3
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
4
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
6
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
9
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
10
Acetaminophen Approved Phase 4 103-90-2 1983
11
Cefazolin Approved Phase 4 25953-19-9 656510 33255
12
Enoxaparin Approved Phase 4 9005-49-6 772
13
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
14
Ibuprofen Approved Phase 4 15687-27-1 3672
15
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
16
Atorvastatin Approved Phase 4 134523-00-5 60823
17
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
18
Micafungin Approved, Investigational Phase 4 235114-32-6 3081921 477468
19
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
20
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
21
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
22
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
23
Coal tar Approved Phase 4 8007-45-2
24
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
25
Anidulafungin Approved, Investigational Phase 4 166663-25-8 166548
26
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
27
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
28
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
29
Metformin Approved Phase 4 657-24-9 4091 14219
30
Iron Approved, Experimental Phase 4 15438-31-0, 7439-89-6 23925 27284
31
Pramlintide Approved, Investigational Phase 4 151126-32-8
32
Fenofibrate Approved Phase 4 49562-28-9 3339
33
Ferrous fumarate Approved Phase 4 141-01-5
34
Ferrous gluconate Approved Phase 4 299-29-6
35
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
36
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
37
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
38
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
39
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
40
Promethazine Approved, Investigational Phase 4 60-87-7 4927
41
Diphenhydramine Approved, Investigational Phase 4 58-73-1, 147-24-0 3100
42
Insulin glargine Approved Phase 4 160337-95-1
43
Insulin Detemir Approved Phase 4 169148-63-4 5311023
44
Iloperidone Approved Phase 4 133454-47-4 71360
45
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
46
Insulin Lispro Approved Phase 4 133107-64-9
47
Insulin Aspart Approved Phase 4 116094-23-6 16132418
48
Pasireotide Approved Phase 4 396091-73-9 9941444
49
Verapamil Approved Phase 4 52-53-9 2520
50
Glyburide Approved Phase 4 10238-21-8 3488

Interventional clinical trials:

(show top 50) (show all 1545)
# Name Status NCT ID Phase Drugs
1 Obesity Cohort : Medical Follow-up of Severe or Morbid Obese Patients Undergoing Bariatric Surgery Unknown status NCT02310178 Phase 4
2 Effect of Bile Acids and Bile Acid Sequstrants on GLP-1 Secretion After Roux-en-Y Gastric Bypass Unknown status NCT02952963 Phase 4 Chenodeoxycholic Acid;Colesevelam
3 Prospective, Clinical Study of the Effect of Bariatric Surgery, Laparoscopic Sleeve Gastrectomy, on the Pharmacokinetics of Immunosuppressive Drugs in the Morbidly Obese, Kidney Transplant Candidate Unknown status NCT01913392 Phase 4
4 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
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 Impact of the Preservation of the Gastric Antrum in the Technique of Sleeve Gastrectomy for the Treatment of the Morbid Obesity: a Prospective,Controlled, Randomized, Multicentrique Study. Unknown status NCT01550601 Phase 4
7 Correlation of Postoperative VAS Values and Body Mass Index in Patients Undergoing Abdominal Surgery: A Clinical Trial Unknown status NCT02017314 Phase 4 Morphine
8 A Study of the Pharmacokinetics of Dexmedetomidine in Morbid Obesity. Unknown status NCT01864187 Phase 4 Dexmedetomidine
9 Vitamin Deficiencies and Suppletion in Morbid Obesity Unknown status NCT02270749 Phase 4 Hydroxocobalamin;FitForMe vitamin B12
10 International, Multi Centre, Open, Prospective, Randomized Study: Banded Versus Conventional Laparoscopic Roux-en-Y (GABY) Unknown status NCT01015469 Phase 4
11 Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot) Unknown status NCT02959853 Phase 4 Anastrazole
12 Prospective Randomized Study of Effects of Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Sleeve Gastrectomy Unknown status NCT00667706 Phase 4
13 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
14 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
15 Gut Hormones as Mediators of Different Weight Loss Responses After Roux-en-Y Gastric Bypass Unknown status NCT02374632 Phase 4
16 Laparoscopic Roux-en-Y Gastric Bypass vs. Laparoscopic BPD-Duodenal Switch for Superobesity (BMI > 50 kg/m2)- A Randomized Clinical Trial Unknown status NCT00327912 Phase 4
17 Ultrasonographic Modification of Liver Steatosis and Visceral Fat Induced by Treatment With Losartan and Simvastatin in Hypertensive Normocholesterolemic Obese Patients Unknown status NCT00669435 Phase 4 Losartan + Simvastatin;Amlodipine + Simvastatin
18 Chronic Metformin Treatment Induces a Dietary Restriction-like State in Overweight Human Unknown status NCT02745886 Phase 4 metformin 0.85 twice daily for 6 months
19 The Employing of the Bio-Hep-B PreS1/PreS2/S Hepatitis B Virus (HBV) Vaccine in New Born Babies From HBV Positive Palestinian Mothers Unknown status NCT01133184 Phase 4
20 The Effect of 6-Methyl-Prednisolone on Organ Dysfunction and Mortality of Patients With Unresolving Multiple Organ Dysfunction Syndrome Unknown status NCT00127985 Phase 4 6-methyl-prednisolone
21 Endobarrier Treatment in Obese Subjects With T2DM Unknown status NCT01718457 Phase 4
22 Weight Reduction Alone May Not be Sufficient to Maintain Disease Remission in Obese Patients With Psoriasis: a Randomized, Investigator-blinded Study Unknown status NCT01439425 Phase 4
23 The Therapeutic Effect of Catgut Embedding in Obesity-A Randomized, Double-blind, Placebo-controlled Clinical Trial Unknown status NCT02276235 Phase 4
24 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
25 The Monitor of Serum Prolactin Level and Related Clinical Observations Among Individuals With Schizophrenia Spectrum Illnesses in a 3 Months Aripiprazole Trial Unknown status NCT00468533 Phase 4 Aripiprazole
26 A Study on the Efficacy, Pharmacokinetics and Adverse Effects of Paliperidone ER Unknown status NCT02433717 Phase 4 Paliperidone ER
27 The ACT-OUT Trial: ACTivity OUTcomes Based on the Consumption of a High Carbohydrate or High Fat Diet in Patients With Metabolic Syndrome Unknown status NCT01357382 Phase 4
28 Randomized Clinical Trial Between Laparoscopic Gastric Bypass and Laparoscopic Vertical Banded Gastroplasty for Morbid Obesity Completed NCT01639677 Phase 4
29 Pharmacokinetics of Intravenous Acetaminophen and Its Metabolites in Morbidly Obese Patients Completed NCT01764555 Phase 4 acetaminophen 2 g
30 CYP3A4 Metabolism Before and After Surgery Induced Weight Loss in Morbidly Obese Patients Using Midazolam as a Model Drug Completed NCT01519726 Phase 4 Midazolam
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 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
33 Comparisons of iv Ibuprofen and iv Paracetamol for Postoperative Pain Levels and Opioid Consumption During Bariatric Surgery Completed NCT02778958 Phase 4 paracetamol;ibuprofen
34 Investigations on the Influence of Bariatric Surgery on the Metabolism and Absorption of Atorvastatin Completed NCT00331565 Phase 4
35 Micafungin (Mycamine®) Pharmacokinetics Given as a Single Intravenous Dose to Obese Patients (MICADO). Completed NCT03102658 Phase 4 Micafungin
36 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
37 Pharmacokinetics (PK) of Propofol in Bariatric (Morbidly Obese) Patients Completed NCT01536002 Phase 4 Propofol
38 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
39 A Prospective Randomized Clinical Trial Evaluating Surgical Conditions During Laparoscopic Bariatric Surgery With Deep Versus Moderate Neuromuscular Blockade Completed NCT02703909 Phase 4 Rocuronium
40 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
41 Clinical, Microbial and Biochemistry Evaluation of Obese Individuals Submitted to One-stage Full-mouth Disinfection. A Clinical Control Parallel Study Completed NCT03103204 Phase 4
42 Pharmacokinetics of Liposomal Amphotericin B (AmBisome®) Given Intravenously to Patients Undergoing Bariatric Surgery Completed NCT02320604 Phase 4 Administration of study drug
43 Efficacy and Tolerability of Garcinia Mangostana Extracts in the Management of Weight Loss in Severe Obese Patients Completed NCT02823561 Phase 4
44 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
45 Population Pharmacokinetics and Pharmacodynamics of Propofol in the Morbidly Obese Patient Completed NCT00395681 Phase 4 Diprivan
46 Increased Cefazolin (Ancef) Dosing for Prophylaxis During Cesarean Delivery in the Obese Population Completed NCT02049944 Phase 4 Cefazolin
47 Use Of Esomeprazole In Postoperative Bariatric Surgery Patients Users And Non-Users Of Nonsteroidal Anti-Inflammatory Drugs (NSAIDS) Completed NCT00608712 Phase 4 Esomeprazole
48 Intravenous Ibuprofen for Laparoscopic Bariatric Surgery Completed NCT01707251 Phase 4 Intravenous Ibuprofen;Saline
49 Suture Granuloma in Body Contouring Surgery Completed NCT00223132 Phase 4
50 Leptin and Ghrelin in ICU Completed NCT02282501 Phase 4

Search NIH Clinical Center for Leptin Deficiency or Dysfunction

Cochrane evidence based reviews: obesity, morbid

Genetic Tests for Leptin Deficiency or Dysfunction

Genetic tests related to Leptin Deficiency or Dysfunction:

# Genetic test Affiliating Genes
1 Leptin Deficiency or Dysfunction 29 LEP
2 Morbid Obesity 29

Anatomical Context for Leptin Deficiency or Dysfunction

MalaCards organs/tissues related to Leptin Deficiency or Dysfunction:

41
Liver, Breast, Bone, Brain, Kidney, Heart, Endothelial

Publications for Leptin Deficiency or Dysfunction

Articles related to Leptin Deficiency or Dysfunction:

(show top 50) (show all 7842)
# Title Authors PMID Year
1
Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults. 9 38 8 71
15070752 2004
2
A leptin missense mutation associated with hypogonadism and morbid obesity. 9 38 8 71
9500540 1998
3
Biologically inactive leptin and early-onset extreme obesity. 8 71
25551525 2015
4
Congenital leptin deficiency due to homozygosity for the Delta133G mutation: report of another case and evaluation of response to four years of leptin therapy. 8 71
15472169 2004
5
Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. 8 71
12393845 2002
6
Congenital leptin deficiency is associated with severe early-onset obesity in humans. 8 71
9202122 1997
7
Leptin replacement alters brain response to food cues in genetically leptin-deficient adults. 9 38 8
17986612 2007
8
Human leptin deficiency caused by a missense mutation: multiple endocrine defects, decreased sympathetic tone, and immune system dysfunction indicate new targets for leptin action, greater central than peripheral resistance to the effects of leptin, and spontaneous correction of leptin-mediated defects. 9 38 8
10523015 1999
9
Positional cloning of the mouse obese gene and its human homologue. 9 38 8
7984236 1994
10
Interleukin-18, together with interleukin-12, induces severe acute pancreatitis in obese but not in nonobese leptin-deficient mice. 8
18515422 2008
11
A role for leptin in sustaining lymphopoiesis and myelopoiesis. 8
18250302 2008
12
Leptin regulates striatal regions and human eating behavior. 8
17690262 2007
13
Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy. 8
17118991 2007
14
Is leptin an important physiological regulator of CRP? 8
17206122 2007
15
Induction of leptin resistance through direct interaction of C-reactive protein with leptin. 8
16582918 2006
16
Disruption of leptin signaling contributes to cardiac hypertrophy independently of body weight in mice. 8
12885755 2003
17
Leptin-deficient mice exhibit impaired host defense in Gram-negative pneumonia. 8
11937559 2002
18
Partial leptin deficiency and human adiposity. 8
11689931 2001
19
Weekly subcutaneous pegylated recombinant native human leptin (PEG-OB) administration in obese men. 8
11095423 2000
20
Leptin inhibits bone formation through a hypothalamic relay: a central control of bone mass. 8
10660043 2000
21
Peroxisome proliferator-activated receptor gamma C161-->T polymorphism and coronary artery disease. 71
10690291 1999
22
Effects of recombinant leptin therapy in a child with congenital leptin deficiency. 8
10486419 1999
23
Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes. 71
9769326 1998
24
Obesity associated with a mutation in a genetic regulator of adipocyte differentiation. 71
9753710 1998
25
Abnormal regulation of the leptin gene in the pathogenesis of obesity. 8
9751754 1998
26
Ciliary neurotrophic factor corrects obesity and diabetes associated with leptin deficiency and resistance. 8
9177239 1997
27
Correction of obesity and diabetes in genetically obese mice by leptin gene therapy. 8
8962136 1996
28
Effects of the obese gene product on body weight regulation in ob/ob mice. 8
7624776 1995
29
Weight-reducing effects of the plasma protein encoded by the obese gene. 8
7624777 1995
30
Recombinant mouse OB protein: evidence for a peripheral signal linking adiposity and central neural networks. 8
7624778 1995
31
Genetics. In search of a satiety factor. 8
7984230 1994
32
Obesity genes: beneficial effects in heterozygous mice. 8
760211 1979
33
Thermogenic defect in pre-obese ob/ob mice. 8
840297 1977
34
Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"? 8
13937884 1962
35
Obese, a new mutation in the house mouse. 8
14824537 1950
36
Chemerin correlates with markers for fatty liver in morbidly obese patients and strongly decreases after weight loss induced by bariatric surgery. 9 38
20375212 2010
37
The relationships between IGF-1 and CRP, NO, leptin, and adiponectin during weight loss in the morbidly obese. 9 38
20195789 2010
38
Rates of lipid fluxes in adipose tissue in vivo after a mixed meal in morbid obesity. 9 38
20084071 2010
39
Metabolic syndrome and insulin resistance in subjects with morbid obesity. 9 38
19841991 2010
40
Estradiol and metabolic syndrome in older italian men: The InCHIANTI Study. 9 38
19059904 2010
41
Leptin-signaling pathways and leptin resistance. 9 38
19955780 2010
42
Ala54Thr polymorphism of fatty acid binding protein 2, role on insulin resistance and cardiovascular risk factors in presurgical morbid obesity patients. 9 38
19475463 2009
43
Effects of acute administration of acylated and unacylated ghrelin on glucose and insulin concentrations in morbidly obese subjects without overt diabetes. 9 38
19628651 2009
44
A novel function of intestinal gluconeogenesis: central signaling in glucose and energy homeostasis. 9 38
19647621 2009
45
Inflammatory mediators in morbidly obese subjects: associations with glucose abnormalities and changes after oral glucose. 9 38
19542241 2009
46
[Study of the relationship between adiponectin, interleukin-18, ghrelin and bone mineral density in morbidly obese women after gastric bypass]. 9 38
19883895 2009
47
Rates of glucose uptake in adipose tissue and muscle in vivo after a mixed meal in women with morbid obesity. 9 38
19435828 2009
48
Maternal obesity and markers of inflammation in pregnancy. 9 38
19505831 2009
49
Adipocyte fatty acid-binding protein as a determinant of insulin sensitivity in morbid-obese women. 9 38
19197257 2009
50
The effect of intragastric balloon on plasma ghrelin, leptin, and adiponectin levels in patients with morbid obesity. 9 38
19258408 2009

Variations for Leptin Deficiency or Dysfunction

ClinVar genetic disease variations for Leptin Deficiency or Dysfunction:

6 (show all 49)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PPARG NM_138712.3(PPARG): c.254C> A (p.Pro85Gln) single nucleotide variant Pathogenic rs1800571 3:12422848-12422848 3:12381349-12381349
2 LEP LEP, 1-BP DEL, FS147TER deletion Pathogenic
3 LEP NM_000230.3(LEP): c.313C> T (p.Arg105Trp) single nucleotide variant Pathogenic rs104894023 7:127894625-127894625 7:128254572-128254572
4 LEP NM_000230.3(LEP): c.298G> T (p.Asp100Tyr) single nucleotide variant Pathogenic rs724159998 7:127894610-127894610 7:128254557-128254557
5 LEP NM_000230.3(LEP): c.461T> C (p.Leu154Pro) single nucleotide variant Likely pathogenic rs1554394014 7:127894773-127894773 7:128254720-128254720
6 UCP3 UCP3, IVS6, G-A, +1 single nucleotide variant Conflicting interpretations of pathogenicity
7 LEP NM_000230.3(LEP): c.144+15C> T single nucleotide variant Uncertain significance rs776318015 7:127892230-127892230 7:128252177-128252177
8 LEP NM_000230.3(LEP): c.181G> A (p.Asp61Asn) single nucleotide variant Uncertain significance rs886061972 7:127894493-127894493 7:128254440-128254440
9 LEP NM_000230.3(LEP): c.*204C> T single nucleotide variant Uncertain significance rs113405088 7:127895020-127895020 7:128254967-128254967
10 LEP NM_000230.3(LEP): c.*422G> C single nucleotide variant Uncertain significance rs886061975 7:127895238-127895238 7:128255185-128255185
11 LEP NM_000230.3(LEP): c.*785A> G single nucleotide variant Uncertain significance rs114834517 7:127895601-127895601 7:128255548-128255548
12 LEP NM_000230.3(LEP): c.*1010C> A single nucleotide variant Uncertain significance rs138289049 7:127895826-127895826 7:128255773-128255773
13 LEP NM_000230.3(LEP): c.*1014C> G single nucleotide variant Uncertain significance rs151325384 7:127895830-127895830 7:128255777-128255777
14 LEP NM_000230.3(LEP): c.*1549T> C single nucleotide variant Uncertain significance rs201701012 7:127896365-127896365 7:128256312-128256312
15 LEP NM_000230.3(LEP): c.*2738G> A single nucleotide variant Uncertain significance rs201644572 7:127897554-127897554 7:128257501-128257501
16 LEP NM_000230.3(LEP): c.*150G> A single nucleotide variant Uncertain significance rs28954115 7:127894966-127894966 7:128254913-128254913
17 LEP NM_000230.3(LEP): c.*300C> T single nucleotide variant Uncertain significance rs191600447 7:127895116-127895116 7:128255063-128255063
18 LEP NM_000230.3(LEP): c.*1260A> G single nucleotide variant Uncertain significance rs144195028 7:127896076-127896076 7:128256023-128256023
19 LEP NM_000230.3(LEP): c.*2527G> T single nucleotide variant Uncertain significance rs886061979 7:127897343-127897343 7:128257290-128257290
20 LEP NM_000230.3(LEP): c.*2799C> T single nucleotide variant Uncertain significance rs200887574 7:127897615-127897615 7:128257562-128257562
21 LEP NM_000230.3(LEP): c.21C> T (p.Cys7=) single nucleotide variant Uncertain significance rs201523305 7:127892092-127892092 7:128252039-128252039
22 LEP NM_000230.3(LEP): c.*34G> A single nucleotide variant Uncertain significance rs28954114 7:127894850-127894850 7:128254797-128254797
23 LEP NM_000230.3(LEP): c.*69A> G single nucleotide variant Uncertain significance rs886061974 7:127894885-127894885 7:128254832-128254832
24 LEP NM_000230.3(LEP): c.*366A> T single nucleotide variant Uncertain significance rs28954118 7:127895182-127895182 7:128255129-128255129
25 LEP NM_000230.3(LEP): c.*992G> T single nucleotide variant Uncertain significance rs886061976 7:127895808-127895808 7:128255755-128255755
26 LEP NM_000230.3(LEP): c.*1640C> T single nucleotide variant Uncertain significance rs201065449 7:127896456-127896456 7:128256403-128256403
27 LEP NM_000230.3(LEP): c.*1678C> T single nucleotide variant Uncertain significance rs188857005 7:127896494-127896494 7:128256441-128256441
28 LEP NM_000230.3(LEP): c.*2224G> A single nucleotide variant Uncertain significance rs28959472 7:127897040-127897040 7:128256987-128256987
29 LEP NM_000230.3(LEP): c.*2234G> A single nucleotide variant Uncertain significance rs886061977 7:127897050-127897050 7:128256997-128256997
30 LEP NM_000230.3(LEP): c.*2267A> C single nucleotide variant Uncertain significance rs886061978 7:127897083-127897083 7:128257030-128257030
31 LEP NM_000230.3(LEP): c.*2579G> A single nucleotide variant Uncertain significance rs200738664 7:127897395-127897395 7:128257342-128257342
32 LEP NM_000230.3(LEP): c.*2595C> T single nucleotide variant Uncertain significance rs28959475 7:127897411-127897411 7:128257358-128257358
33 LEP NM_000230.3(LEP): c.*2819_*2822dup duplication Uncertain significance rs56247456 7:127897635-127897638 7:128257582-128257585
34 LEP NM_000230.3(LEP): c.*2015C> A single nucleotide variant Uncertain significance rs28959471 7:127896831-127896831 7:128256778-128256778
35 LEP NM_000230.3(LEP): c.*2053G> A single nucleotide variant Uncertain significance rs17617757 7:127896869-127896869 7:128256816-128256816
36 LEP NM_000230.3(LEP): c.212C> A (p.Thr71Asn) single nucleotide variant Uncertain significance rs886061973 7:127894524-127894524 7:128254471-128254471
37 LEP NM_000230.3(LEP): c.*360G> A single nucleotide variant Uncertain significance rs200748706 7:127895176-127895176 7:128255123-128255123
38 LEP NM_000230.3(LEP): c.*1428C> A single nucleotide variant Uncertain significance rs76601079 7:127896244-127896244 7:128256191-128256191
39 LEP NM_000230.3(LEP): c.*2822dup duplication Uncertain significance rs56247456 7:127897638-127897638 7:128257585-128257585
40 LEP NM_000230.3(LEP): c.*2253C> A single nucleotide variant Likely benign rs11761556 7:127897069-127897069 7:128257016-128257016
41 LEP NM_000230.3(LEP): c.*400G> T single nucleotide variant Likely benign rs17151922 7:127895216-127895216 7:128255163-128255163
42 LEP NM_000230.3(LEP): c.*2595C> A single nucleotide variant Likely benign rs28959475 7:127897411-127897411 7:128257358-128257358
43 LEP NM_000230.3(LEP): c.*2820_*2822dup duplication Likely benign rs56247456 7:127897636-127897638 7:128257583-128257585
44 LEP NM_000230.3(LEP): c.*1243A> G single nucleotide variant Likely benign rs6966536 7:127896059-127896059 7:128256006-128256006
45 LEP NM_000230.3(LEP): c.*2205G> A single nucleotide variant Likely benign rs41457646 7:127897021-127897021 7:128256968-128256968
46 LEP NM_000230.3(LEP): c.*2410G> A single nucleotide variant Likely benign rs28959474 7:127897226-127897226 7:128257173-128257173
47 LEP NM_000230.3(LEP): c.-39G> A single nucleotide variant Likely benign rs2167270 7:127881349-127881349 7:128241296-128241296
48 LEP NM_000230.3(LEP): c.280G> A (p.Val94Met) single nucleotide variant Benign/Likely benign rs17151919 7:127894592-127894592 7:128254539-128254539
49 LEP NM_000230.3(LEP): c.*1720A> G single nucleotide variant Benign rs10954174 7:127896536-127896536 7:128256483-128256483

UniProtKB/Swiss-Prot genetic disease variations for Leptin Deficiency or Dysfunction:

74
# Symbol AA change Variation ID SNP ID
1 LEP p.Arg105Trp VAR_008094 rs104894023
2 LEP p.Asp100Tyr VAR_075144 rs724159998

Expression for Leptin Deficiency or Dysfunction

Search GEO for disease gene expression data for Leptin Deficiency or Dysfunction.

Pathways for Leptin Deficiency or Dysfunction

Pathways related to Leptin Deficiency or Dysfunction according to KEGG:

37
# 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

Pathways related to Leptin Deficiency or Dysfunction according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.03 PYY MC4R MC3R LPL LEPR LEP
2
Show member pathways
13.41 PPARG LPL LEPR LEP INS GCG
3
Show member pathways
13.24 PYY MC4R MC3R LEPR LEP HCRT
4
Show member pathways
12.24 PPARG LEPR LEP INS ADIPOQ
5
Show member pathways
12.07 LEP INS GHRL GCG
7 11.94 MC4R MC3R GCG ADRB3
8 11.92 PPARG INS GCG GAD2 FTO ADIPOQ
9 11.58 PPARG LPL INS
10 11.54 LEPR LEP ADIPOQ
11 11.37 LEPR LEP INS
12 11.34 PPARG LPL FABP2 ADIPOQ
13 11.22 RETN PPARG LPL LEP INS ADIPOQ
14
Show member pathways
11.11 LEPR LEP CRP
15 10.98 PPARG LEP ADIPOQ
16 10.89 PPARG LEP ADIPOQ

GO Terms for Leptin Deficiency or Dysfunction

Cellular components related to Leptin Deficiency or Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.65 RETN PYY LPL LEP INS GHRL
2 extracellular region GO:0005576 9.4 RETN PYY LPL LEPR LEP INS
3 secretory granule lumen GO:0034774 9.33 INS GHRL GCG

Biological processes related to Leptin Deficiency or Dysfunction according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.96 PPARG LPL GAD2 ADIPOQ
2 G protein-coupled receptor signaling pathway GO:0007186 9.85 PYY PPARG MC4R MC3R INS HCRT
3 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.84 MC4R MC3R GCG ADRB3
4 response to nutrient GO:0007584 9.81 PPARG LEP ADIPOQ
5 response to insulin GO:0032868 9.79 RETN MC4R LEP
6 glucose metabolic process GO:0006006 9.78 LEP INS GHRL ADIPOQ
7 regulation of blood pressure GO:0008217 9.77 PPARG MC3R LEP
8 glucose homeostasis GO:0042593 9.77 PPARG LEPR LEP INS ADIPOQ
9 response to nutrient levels GO:0031667 9.75 LEP GHRL ADIPOQ
10 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.71 MC4R MC3R GCG ADRB3
11 eating behavior GO:0042755 9.69 LEP HCRT CCK
12 negative regulation of gluconeogenesis GO:0045721 9.67 LEPR INS ADIPOQ
13 temperature homeostasis GO:0001659 9.66 HCRT FTO
14 regulation of fat cell differentiation GO:0045598 9.65 PPARG LEP
15 positive regulation of insulin receptor signaling pathway GO:0046628 9.65 LEP INS
16 positive regulation of cellular protein metabolic process GO:0032270 9.65 INS ADIPOQ
17 fatty acid oxidation GO:0019395 9.64 PPARG ADIPOQ
18 sexual reproduction GO:0019953 9.63 LEPR LEP
19 negative regulation of blood vessel diameter GO:0097756 9.63 INS CRP
20 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.63 PPARG CRP ADIPOQ
21 adult feeding behavior GO:0008343 9.62 LEP GHRL
22 negative regulation of lipid storage GO:0010888 9.61 LEP CRP
23 negative regulation of appetite GO:0032099 9.61 LEP CCK
24 regulation of feeding behavior GO:0060259 9.61 MC4R MC3R LEPR
25 leptin-mediated signaling pathway GO:0033210 9.6 LEPR LEP
26 negative regulation of acute inflammatory response GO:0002674 9.58 PPARG INS
27 regulation of bone remodeling GO:0046850 9.57 LEPR LEP
28 regulation of metabolic process GO:0019222 9.56 MC4R LEP
29 feeding behavior GO:0007631 9.56 PYY MC4R HCRT GCG
30 regulation of brown fat cell differentiation GO:0090335 9.55 LEP FTO
31 bone growth GO:0098868 9.52 LEPR LEP
32 negative regulation of feeding behavior GO:2000252 9.5 RETN MC4R INS
33 energy reserve metabolic process GO:0006112 9.26 MC4R LEPR LEP ADRB3
34 positive regulation of cold-induced thermogenesis GO:0120162 9.1 LEPR LEP HCRT GHRL ADRB3 ADIPOQ

Molecular functions related to Leptin Deficiency or Dysfunction according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.88 PPARG LEPR INS GCG CRP ADIPOQ
2 peptide hormone binding GO:0017046 9.43 MC4R MC3R LEPR
3 peptide hormone receptor binding GO:0051428 9.37 LEP CCK
4 melanocortin receptor activity GO:0004977 9.32 MC4R MC3R
5 hormone activity GO:0005179 9.23 RETN PYY LEP INS GHRL