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LEPD
MCID: LPT014
MIFTS: 70

Leptin Deficiency or Dysfunction (LEPD)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Leptin Deficiency or Dysfunction

About this section

MalaCards integrated aliases for Leptin Deficiency or Dysfunction:

Name: Leptin Deficiency or Dysfunction 58 76 30 6 74
Morbid Obesity 39 12 30 6 15 17
Obesity Due to Congenital Leptin Deficiency 60 76
Obesity, Morbid, Due to Leptin Deficiency 58 13
Obesity, Morbid 58 45
Severe Obesity 12 15
Lepd 58 76
Morbid Obesity Due to Leptin Deficiency 76
Non-Syndromic Morbid Obesity 1 76
Leptin Deficiency 76
Obesity Morbid 56

Characteristics:

Orphanet epidemiological data:

60
obesity due to congenital leptin deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
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:

33
leptin deficiency or dysfunction:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


Sources

Summaries for Leptin Deficiency or Dysfunction

About this section
OMIM : 58 Leptin deficiency is characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (Ozata et al., 1999). (614962)

MalaCards based summary : Leptin Deficiency or Dysfunction, also known as morbid obesity, is related to liver disease and nonalcoholic steatohepatitis, 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 Signaling by GPCR and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Dexmedetomidine and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and brain, and related phenotypes are obesity and recurrent upper respiratory tract infections

UniProtKB/Swiss-Prot : 76 Leptin deficiency: A rare disease characterized by low levels of serum leptin, severe hyperphagia and intractable obesity from an early age.

Sources

Related Diseases for Leptin Deficiency or Dysfunction

About this section

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

(show top 50) (show all 322)
# Related Disease Score Top Affiliating Genes
1 liver disease 30.9 ADIPOQ INS LEP LEPR
2 nonalcoholic steatohepatitis 30.9 ADIPOQ INS LEP
3 fatty liver disease 30.9 ADIPOQ INS LEP LEPR
4 nonalcoholic fatty liver disease 30.9 ADIPOQ INS LEP
5 gastroesophageal reflux 30.6 CCK GCG GHRL PYY
6 fatty liver disease, nonalcoholic 1 30.2 ADIPOQ INS LEP RETN
7 obesity-hypoventilation syndrome 30.1 ADIPOQ LEP RETN
8 eating disorder 30.1 ADIPOQ CCK GHRL LEP LEPR MC4R
9 hyperinsulinism 30.1 GHRL INS LEP
10 severe pre-eclampsia 30.0 ADIPOQ LEP LEPR
11 chronic kidney failure 30.0 ADIPOQ CRP INS LEP
12 acanthosis nigricans 30.0 ADIPOQ INS LEP PPARG
13 arteries, anomalies of 29.9 ADIPOQ CRP INS LEP PPARG
14 acute pancreatitis 29.9 CCK CRP LPL
15 pancreatitis 29.9 CCK CRP LPL
16 dumping syndrome 29.9 GCG INS PYY
17 abdominal obesity-metabolic syndrome 1 29.9 ADIPOQ INS LEP PPARG
18 acquired generalized lipodystrophy 29.8 ADIPOQ INS LEP PPARG RETN
19 apnea, obstructive sleep 29.8 ADIPOQ CRP HCRT INS LEP
20 atherosclerosis susceptibility 29.8 ADIPOQ CRP INS PPARG
21 gestational diabetes 29.8 ADIPOQ ADRB3 INS LEP RETN
22 hyperuricemia 29.7 ADRB3 CRP INS
23 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 29.6 ADIPOQ INS
24 anorexia nervosa 29.6 ADIPOQ CCK GHRL HCRT LEP LEPR
25 hyperglycemia 29.5 ADIPOQ GCG INS LEP PPARG
26 myocardial infarction 29.4 ADIPOQ CRP GHRL INS RETN
27 coronary heart disease 1 29.4 ADIPOQ CRP INS LPL RETN
28 diabetes mellitus 29.4 ADIPOQ ADRB3 CRP GAD2 GCG GHRL
29 hypertension, essential 29.4 ADIPOQ ADRB3 INS LEP LPL RETN
30 lipid metabolism disorder 29.3 ADIPOQ CRP INS LEP LPL PPARG
31 sleep apnea 29.3 ADIPOQ CRP GHRL HCRT INS LEP
32 prader-willi syndrome 29.0 ADIPOQ CCK GCG GHRL HCRT INS
33 diabetes mellitus, noninsulin-dependent 28.8 ADIPOQ ADRB3 CRP FABP2 GAD2 GCG
34 glucose intolerance 28.4 ADIPOQ ADRB3 CRP GCG GHRL INS
35 body mass index quantitative trait locus 11 27.9 ADIPOQ ADRB3 CCK CRP FABP2 FTO
36 leptin receptor deficiency 11.7
37 obesity due to congenital leptin deficiency 11.6
38 congenital leptin deficiency 11.4
39 morbid obesity and spermatogenic failure 11.3
40 obesity, early-onset, with adrenal insufficiency and red hair 11.0
41 degos 'en cocarde' erythrokeratoderma 10.8
42 body mass index quantitative trait locus 8 10.5
43 body mass index quantitative trait locus 10 10.5
44 body mass index quantitative trait locus 7 10.5
45 body mass index quantitative trait locus 14 10.5
46 body mass index quantitative trait locus 18 10.5
47 body mass index quantitative trait locus 19 10.5
48 lipodystrophy, familial partial, type 1 10.4 INS LEP PPARG
49 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.4 INS LEP
50 complete generalized lipodystrophy 10.4 INS LEP PPARG

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



Diseases related to Leptin Deficiency or Dysfunction
Sources

Symptoms & Phenotypes for Leptin Deficiency or Dysfunction

About this section

Human phenotypes related to Leptin Deficiency or Dysfunction:

60 33 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 60 33 obligate (100%) Obligate (100%) HP:0001513
2 recurrent upper respiratory tract infections 60 33 Frequent (79-30%) HP:0002788
3 primary amenorrhea 60 33 Very frequent (99-80%) HP:0000786
4 decreased testicular size 60 33 Very frequent (99-80%) HP:0008734
5 gynecomastia 60 33 Very frequent (99-80%) HP:0000771
6 polyphagia 60 33 Very frequent (99-80%) HP:0002591
7 decreased serum leptin 60 33 Obligate (100%) HP:0003292
8 hypertriglyceridemia 60 Frequent (79-30%)
9 hyperinsulinemia 60 Very frequent (99-80%)
10 hypogonadism 33 HP:0000135
11 hypergonadotropic hypogonadism 60 Very frequent (99-80%)
12 absence of secondary sex characteristics 60 Very frequent (99-80%)
13 recurrent pneumonia 33 HP:0006532
14 decreased proportion of cd4-positive t cells 60 Very frequent (99-80%)
15 accelerated skeletal maturation 60 Frequent (79-30%)
16 micropenis 33 HP:0000054
17 decreased serum estradiol 60 Very frequent (99-80%)
18 decreased t cell activation 60 Very frequent (99-80%)
19 decreased testosterone in males 60 Very frequent (99-80%)
20 hypoplasia of the ovary 60 Very frequent (99-80%)
21 insulin-resistant diabetes mellitus 60 Frequent (79-30%)
22 orthostatic hypotension due to autonomic dysfunction 60 Frequent (79-30%)
23 pituitary hypothyroidism 60 Frequent (79-30%)
24 recurrent ear infections 33 HP:0410018
25 abnormal eating behavior 33 HP:0100738

Symptoms via clinical synopsis from OMIM:

58
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:

47 (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
Sources

Drugs & Therapeutics for Leptin Deficiency or Dysfunction

About this section

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

(show top 50) (show all 365)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
2
Hydroxocobalamin Approved Phase 4,Phase 2,Phase 3 13422-51-0 15589840 11953898
3
Methylcobalamin Approved, Experimental, Investigational Phase 4,Phase 2,Phase 3 13422-55-4
4
Morphine Approved, Investigational Phase 4,Phase 2,Phase 3 57-27-2 5288826
5
Enoxaparin Approved Phase 4,Phase 1,Phase 2 9005-49-6 772
6
Dalteparin Approved Phase 4 9005-49-6
7
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
8
chenodeoxycholic acid Approved Phase 4,Phase 2,Phase 1 474-25-9 10133
9
Heparin Approved, Investigational Phase 4,Not Applicable 9005-49-6 46507594 772
10
Nadroparin Approved, Investigational Phase 4
11
Octreotide Approved, Investigational Phase 4 83150-76-9 6400441 383414
12
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 1994-09-7, 94-09-7 2337
13
Rocuronium Approved Phase 4,Phase 2,Not Applicable 119302-91-9, 143558-00-3 441290
14
tannic acid Approved Phase 4,Phase 3,Phase 2,Not Applicable 1401-55-4
15
Atorvastatin Approved Phase 4,Not Applicable 134523-00-5 60823
16
Acetaminophen Approved Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 103-90-2 1983
17
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 2078-54-8 4943
18
Liraglutide Approved Phase 4,Not Applicable 204656-20-2 44147092
19
Ursodeoxycholic acid Approved, Investigational Phase 4,Not Applicable 128-13-2 31401
20
Ketamine Approved, Vet_approved Phase 4,Phase 3,Not Applicable 6740-88-1 3821
21
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Not Applicable 437-38-7 3345
22
Neostigmine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 59-99-4 4456
23
Sevoflurane Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 28523-86-6 5206
24
Remifentanil Approved Phase 4,Phase 2,Phase 3,Not Applicable 132875-61-7 60815
25
Methylene blue Approved, Investigational Phase 4,Phase 1,Phase 2 61-73-4
26
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
27
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
28
Micafungin Approved, Investigational Phase 4 235114-32-6 477468 3081921
29
Amphotericin B Approved, Investigational Phase 4 1397-89-3 5280965 14956
30
Midazolam Approved, Illicit Phase 4,Not Applicable 59467-70-8 4192
31
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 1,Phase 2 73590-58-6 4594
32
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 161973-10-0, 119141-88-7 9568614 4594
33
Sodium Citrate Approved, Investigational Phase 4 68-04-2
34
Iron Approved, Experimental Phase 4,Phase 2,Phase 3,Not Applicable 7439-89-6, 15438-31-0 27284 23925
35
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 3,Not Applicable 76-42-6 5284603
36
Ibuprofen Approved Phase 4 15687-27-1 3672
37
Pasireotide Approved Phase 4 396091-73-9 9941444
38
Acarbose Approved, Investigational Phase 4 56180-94-0 441184
39
Verapamil Approved Phase 4 52-53-9 2520
40
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
41
Phentermine Approved, Illicit Phase 4,Phase 3 122-09-8 4771
42
Etidronic acid Approved Phase 4 7414-83-7, 2809-21-4 3305
43
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
44
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
45
Methyltestosterone Approved Phase 4 58-18-4 6010
46
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
47
Testosterone enanthate Approved Phase 4 315-37-7 9416
48
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
49
Cyanocobalamin Approved, Nutraceutical Phase 4,Phase 2,Phase 3 68-19-9 44176380
50
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 22737-96-8, 11103-57-4 9904001 445354

Interventional clinical trials:

(show top 50) (show all 627)
# Name Status NCT ID Phase Drugs
1 Impact of the Preservation of the Gastric Antrum in the Technique of Sleeve Gastrectomy for the Treatment of the Morbid Obesity Unknown status NCT01550601 Phase 4
2 Pharmacokinetics of Dexmedetomidine in Morbid Obesity Unknown status NCT01864187 Phase 4 Dexmedetomidine
3 Vitamin Deficiencies and Suppletion in Morbid Obesity Unknown status NCT02270749 Phase 4 Hydroxocobalamin;FitForMe vitamin B12
4 Evaluation of the Effects of Laying Early a Gastric Band on the Prevention of Morbid Obesity Randomized Checked Against Standard Management of Obesity in This Population. Unknown status NCT01700738 Phase 4
5 VAS Correlation With BMI Unknown status NCT02017314 Phase 4 Morphine
6 Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Sleeve Gastrectomy Unknown status NCT00667706 Phase 4
7 Anti Xa Levels Under Two Different Regimens of Enoxaparin VTE Prophylaxis After Sleeve Gastrectomy for Morbid Obesity Unknown status NCT01970202 Phase 4 40mg Enoxaparin;60mg Enoxaparin
8 Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot) Unknown status NCT02959853 Phase 4 Anastrazole
9 Banded Versus Conventional Laparoscopic Roux-en-Y (GABY) Unknown status NCT01015469 Phase 4
10 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
11 Effects of Bile Acids and Bile Acid Sequestrants on GLP-1 Secretion After Roux-en-Y Gastric Bypass Unknown status NCT02876484 Phase 4 Colesevelam;Chenodeoxycholic Acid
12 Prophylaxis of Venous Thromboembolism After Bariatric Surgery Unknown status NCT02295150 Phase 4 Nadroparin
13 Gut Hormones as Mediators of Different Weight Loss Responses After Roux-en-Y Gastric Bypass Unknown status NCT02374632 Phase 4
14 Effect of Laparoscopic Sleeve Gastrectomy in the Morbidly Obese, Kidney Transplant Candidate Unknown status NCT01913392 Phase 4
15 Laparoscopic Bariatric Surgery: Impact of Deep Neuromuscular Block on Surgical Conditions Unknown status NCT02118844 Phase 4 rocuronium
16 Obesity Cohort : Medical Follow-up of Severe or Morbid Obese Patients Undergoing Bariatric Surgery Unknown status NCT02310178 Phase 4
17 Clinical Trial Between Laparoscopic Gastric Bypass and Laparoscopic Vertical Banded Gastroplasty for Morbid Obesity Completed NCT01639677 Phase 4
18 Post Implantation/Post Market Evaluation of the Swedish Adjustable Gastric Band Completed NCT00543140 Phase 4
19 Surgical Conditions During Laparoscopic Bariatric Surgery Completed NCT02703909 Phase 4 Rocuronium
20 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
21 Investigations on the Influence of Bariatric Surgery on the Metabolism and Absorption of Atorvastatin Completed NCT00331565 Phase 4
22 Dosing Obese With Noxafil® Under a Trial (DONUT) Completed NCT03246386 Phase 4 Posaconazole Injection [Noxafil] 300mg;Posaconazole Injection [Noxafil] 400mg
23 Micafungin Pharmacokinetics in Obese Patients Completed NCT03102658 Phase 4 Micafungin
24 Liposomal Amphotericin B (AmBisome) Pharmacokinetics Given as a Single Intravenous Dose to Obese Patients (ASPEN) Completed NCT02320604 Phase 4 Administration of study drug
25 Pharmacokinetics of Acetaminophen in Morbidly Obese Patients Completed NCT01764555 Phase 4 acetaminophen 2 g
26 CYP3A4 Metabolism Before and After Surgery Induced Weight Loss Using Midazolam as Model Drug Completed NCT01519726 Phase 4 Midazolam
27 Garcinia Mangostana Extracts in the Management of Weight Loss Completed NCT02823561 Phase 4
28 Population PK/PD of Propofol in the Morbidly Obese Patient Completed NCT00395681 Phase 4 Diprivan
29 Preoperative Condition in Giant Obese Patients Completed NCT02616003 Phase 4 Liraglutide
30 Study to Compare the Bioavailability of Omeprazole 20 mg Before and After Undergoing Surgery for Morbid Obesity Completed NCT03378960 Phase 4 Omeprazole 20mg
31 Effects of Bile Acids on GLP-1 Secretion After Roux-en-Y Gastric Bypass Completed NCT02340247 Phase 4 Ursodeoxycholic Acid;Chenodeoxycholic Acid
32 Use Of Esomeprazole In Postoperative Bariatric Surgery Patients Users And Non-Users Of Nonsteroidal Anti-Inflammatory Drugs (NSAIDS) Completed NCT00608712 Phase 4 Esomeprazole
33 Ketamine for Pain Relief in Bariatric Surgery Completed NCT03052673 Phase 4 Fentanyl;ketamine
34 The Use of Liposomated Iron After Bariatric Surgery in Patients That Are Receiving Parentheral Therapy With Iron Completed NCT02390921 Phase 4 Fisiogen Ferro Forte;Venofer
35 A Trial of the Cost Effectiveness of IV Acetaminophen in Bariatric Surgery Completed NCT02233400 Phase 4 Acetaminophen
36 Comparisons of iv Ibuprofen and iv Paracetamol During Bariatric Surgery Completed NCT02778958 Phase 4 paracetamol;ibuprofen
37 Treatment of Hypoglycemia Following Gastric Bypass Surgery Completed NCT02527993 Phase 4 Glucobay (acarbose);Januvia (sitagliptin);Verapamil HEXAL (verapamil);Victoza (liraglutide);Signifor (pasireotide)
38 Study to Evaluate Weight-based Enoxaparin Dosing in Obese Medical Patients at Risk for DVT Completed NCT00585182 Phase 4 Enoxaparin 0.5 mg/kg once daily
39 Weight Loss With Risedronate for Bone Health Recruiting NCT03411902 Phase 4 Risedronate Sodium 150 MG
40 DPE Technique in Labor Epidural for Morbidly Obese Women Recruiting NCT03074695 Phase 4 Dural puncture epidural (DPE);Standard Epidural (EPL)
41 Effectiveness and Tolerability of Phentermine in Patients Under Bariatric Surgery Recruiting NCT03849729 Phase 4 Phentermine
42 Impact of Sugammadex vs. Neostigmine Reversal on Post-Operative Recovery and Complications Recruiting NCT03679611 Phase 4 Sugammadex Sodium;Neostigmine
43 Anesthetics and Cerebral Oxygenation in LSG Active, not recruiting NCT03946657 Phase 4 Inhalational anesthetic;Intravenous anesthetic
44 Testosterone in Bariatric Patients Not yet recruiting NCT03721497 Phase 4 Testosterone Undecanoate
45 Study of Proton Pump Inhibitors (PPI) to Prevent Strictures After Gastric Bypass Surgery Withdrawn NCT00361985 Phase 4 Esomeprazole;Esomeprazole
46 Laparoscopic Sleeve Gastrectomy Plus Weight Watchers vs. Weight Watchers Alone in Underserved Minority Women Withdrawn NCT01929850 Phase 4
47 Low-Dose Leptin and the Formerly-Obese Unknown status NCT00073242 Phase 3 Leptin;T3 repletion
48 Bariatric Arterial Embolization for Morbid Obesity Unknown status NCT02786108 Phase 3
49 Stapled vs Hand Sewn Anastomosis in Roux en Y Gastric Bypass for Morbid Obesity: Randomized Clinical Trial Unknown status NCT02077517 Phase 3
50 Laparoscopic Adjustable Gastric Banding in Adolescents Unknown status NCT01619488 Phase 3

Search NIH Clinical Center for Leptin Deficiency or Dysfunction

Cochrane evidence based reviews: obesity, morbid

Sources

Genetic Tests for Leptin Deficiency or Dysfunction

About this section

Genetic tests related to Leptin Deficiency or Dysfunction:

# Genetic test Affiliating Genes
1 Leptin Deficiency or Dysfunction 30 LEP
2 Morbid Obesity 30
Sources

Anatomical Context for Leptin Deficiency or Dysfunction

About this section

MalaCards organs/tissues related to Leptin Deficiency or Dysfunction:

42
Liver, Bone, Brain, Kidney, Testes, T Cells, Thyroid
Sources

Publications for Leptin Deficiency or Dysfunction

About this section

Articles related to Leptin Deficiency or Dysfunction:

(show top 50) (show all 2403)
# Title Authors Year
1
Perforated appendicitis in the setting of a massive ventral hernia, morbid obesity, and multiple severe comorbidities: challenges in acute management. ( 30740533 )
2019
2
Medial Arm Flap: An Unexplored Option for Autologous Breast Reconstruction in the Setting of Morbid Obesity. ( 30067528 )
2019
3
Comparative Efficacy of Bariatric Surgery in the Treatment of Morbid Obesity and Diabetes Mellitus: a Systematic Review and Network Meta-Analysis. ( 31037599 )
2019
4
Sudden-onset rash on the trunk and limbs · morbid obesity · family history of diabetes mellitus · Dx? ( 30870536 )
2019
5
Dyspnoea and restrictive lung disease due to mediastinal and pleural lipomatosis in morbid obesity. ( 31007928 )
2019
6
Morbid Obesity Increases the Risk of Postoperative Wound Complications, Infection, and Repeat Surgical Procedures Following Upper Extremity Limb Salvage Surgery for Soft Tissue Sarcoma. ( 30145914 )
2019
7
Laparoscopic One-Anastomosis Gastric Bypass in a Patient with Morbid Obesity and Situs Inversus Totalis: a Case Report. ( 30515621 )
2019
8
Supraglottic jet oxygenation and ventilation assisted fiberoptic intubation in a paralyzed patient with morbid obesity and obstructive sleep apnea: a case report. ( 30894124 )
2019
9
Rhomboid Intercostal and Subserratus Plane block for modified radical mastectomy and axillary curettage in a patient with severe obstructive sleep apnea and morbid obesity. ( 30933855 )
2019
10
An assessment of bacterial overgrowth and translocation in the non-alcoholic fatty liver of patients with morbid obesity. ( 30896956 )
2019
11
Mortality in open abdominal aortic surgery in patients with morbid obesity. ( 31097382 )
2019
12
Propofol pharmacokinetic model and lean body weight scalar for dose estimation in morbid obesity. ( 31109706 )
2019
13
A Prospective Clinical Study Characterizing the Influence of Morbid Obesity on the Pharmacokinetics of Gentamicin: Towards Individualized Dosing in Obese Patients. ( 31016671 )
2019
14
Deep neuromuscular blockade improves surgical conditions during gastric bypass surgery for morbid obesity: A randomised controlled trial. ( 30985536 )
2019
15
BDNF Val66Met genetic variation and its plasma level in patients with morbid obesity: A case-control study. ( 31004714 )
2019
16
Bariatric Surgery Associated with Practice of Moderate to Intense Physical Activity Related to Weight Loss, Activity Level in Daily Life, Dyspnea, and Quality of Life of Sedentary Individuals with Morbid Obesity: a Prospective Longitudinal Study. ( 30955157 )
2019
17
The effect of sex and menopause on carotid intima-media thickness and pulse wave velocity in morbid obesity. ( 30972739 )
2019
18
The Use of Stems for Morbid Obesity in Total Knee Arthroplasty. ( 30861541 )
2019
19
The effect of one year lifestyle intervention on eGFR in children and adolescents with overweight, obesity and morbid obesity. ( 30872684 )
2019
20
Long-term outcomes of laparoscopic sleeve gastrectomy versus Roux-en-Y gastric bypass for morbid obesity: Results from a meta-analysis of randomized controlled trials. ( 30826243 )
2019
21
Folate and Vitamin B12 in Morbid Obesity: The Influence of Folate on Anti-Atherogenic Lipid Profile. ( 30829139 )
2019
22
Arthroplasty in the Face of Morbid Obesity, Time for a Paradigm Shift. ( 30797647 )
2019
23
Prevalence of severe/morbid obesity and other weight status and anthropometric reference standards in Spanish preschool children: The PREFIT project. ( 30776792 )
2019
24
Metabolic Syndrome is Associated with Ceramide Accumulation in Visceral Adipose Tissue of Women with Morbid Obesity. ( 30724038 )
2019
25
Impact of morbid obesity (BMI > 40 kg/m2) on complication rate and outcome following minimally invasive transforaminal lumbar interbody fusion (MIS TLIF). ( 30739072 )
2019
26
Morbid Obesity in Revision Total Knee Arthroplasty: A Significant Risk Factor for Re-Operation. ( 30745083 )
2019
27
Laparoscopic Conversion to Sleeve Gastrectomy After Gastric Clipping for Morbid Obesity-Video Presentation. ( 30706312 )
2019
28
The spectrum of kidney biopsy findings in patients with morbid obesity. ( 30712921 )
2019
29
Ocular abnormalities in morbid obesity. ( 30652762 )
2019
30
Associations between Lifetime Adversity and Obesity Treatment in Patients with Morbid Obesity. ( 30654360 )
2019
31
Morbid obesity-related changes in the expression of lipid receptors, transporters, and HSL in human sperm. ( 30659447 )
2019
32
The influence of morbid obesity on difficult intubation and difficult mask ventilation. ( 30617589 )
2019
33
Single-Anastomosis Plication Ileal Bypass (SAPI) in Treatment of Morbid Obesity. ( 30531450 )
2019
34
Hurdles to Take for Adequate Treatment of Morbidly Obese Children and Adolescents: Attitudes of General Practitioners Towards Conservative and Surgical Treatment of Paediatric Morbid Obesity. ( 30478687 )
2019
35
Correction to: A Comparison of the Bariatric Procedures that Are Performed in the Treatment of Super Morbid Obesity. ( 30511306 )
2019
36
Proteomic Identification of Biomarkers Associated with Eating Control and Bariatric Surgery Outcomes in Patients with Morbid Obesity. ( 30426189 )
2019
37
Comprehensive Assessment of the Effects of Sleeve Gastrectomy on Glucose, Lipid, and Amino Acid Metabolism in Asian Individuals with Morbid Obesity. ( 30191503 )
2019
38
Comparative Effectiveness of Different Bariatric Procedures in Super Morbid Obesity. ( 30251091 )
2019
39
Abdominal Fat Tissue Echogenicity: A Marker of Morbid Obesity. ( 30358874 )
2019
40
AA amyloidosis associated with morbid obesity (clinical case). ( 30527964 )
2018
41
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. ( 29127258 )
2018
42
Binge eating disorder and morbid obesity are associated with lowered mu-opioid receptor availability in the brain. ( 29655552 )
2018
43
Comparing men and women with binge-eating disorder and co-morbid obesity. ( 29493793 )
2018
44
Evaluating feasibility and accuracy of non-invasive tests for nonalcoholic fatty liver disease in severe and morbid obesity. ( 29463916 )
2018
45
Gastroesophageal reflux disease and morbid obesity: evaluation and treatment. ( 30143983 )
2018
46
In response to: Comment on: laparoscopic sleeve gastrectomy combined with Rossetti fundoplication (R-sleeve) for treatment of morbid obesity and gastroesophageal reflux. ( 29571637 )
2018
47
Optimal Gestational Weight Gain for Women with Gestational Diabetes and Morbid Obesity. ( 29497985 )
2018
48
Prader-Willi syndrome and early-onset morbid obesity NIH rare disease consortium: A review of natural history study. ( 29271568 )
2018
49
Morbid Obesity Is Associated With an Increased Risk of Wound Complications and Infection After Lower Extremity Soft-tissue Sarcoma Resection. ( 30601370 )
2018
50
The role of obesity in the fatal outcome of Schaaf-Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation. ( 30238631 )
2018
Sources

Variations for Leptin Deficiency or Dysfunction

About this section

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

76
# Symbol AA change Variation ID SNP ID
1 LEP p.Arg105Trp VAR_008094 rs104894023
2 LEP p.Asp100Tyr VAR_075144 rs724159998

ClinVar genetic disease variations for Leptin Deficiency or Dysfunction:

6 (show top 50) (show all 94)
# Gene Variation Type Significance SNP ID Assembly Location
1 UCP3 UCP3, IVS6, G-A, +1 single nucleotide variant Conflicting interpretations of pathogenicity
2 PPARG NM_138712.3(PPARG): c.254C> A (p.Pro85Gln) single nucleotide variant Pathogenic rs1800571 GRCh38 Chromosome 3, 12381349: 12381349
3 PPARG NM_138712.3(PPARG): c.254C> A (p.Pro85Gln) single nucleotide variant Pathogenic rs1800571 GRCh37 Chromosome 3, 12422848: 12422848
4 LEP LEP, 1-BP DEL, FS147TER deletion Pathogenic
5 LEP NM_000230.2(LEP): c.313C> T (p.Arg105Trp) single nucleotide variant Pathogenic rs104894023 GRCh37 Chromosome 7, 127894625: 127894625
6 LEP NM_000230.2(LEP): c.313C> T (p.Arg105Trp) single nucleotide variant Pathogenic rs104894023 GRCh38 Chromosome 7, 128254572: 128254572
7 LEP NM_000230.2(LEP): c.-39G> A single nucleotide variant Likely benign rs2167270 GRCh37 Chromosome 7, 127881349: 127881349
8 LEP NM_000230.2(LEP): c.-39G> A single nucleotide variant Likely benign rs2167270 GRCh38 Chromosome 7, 128241296: 128241296
9 LEP NM_000230.2(LEP): c.144+15C> T single nucleotide variant Uncertain significance rs776318015 GRCh37 Chromosome 7, 127892230: 127892230
10 LEP NM_000230.2(LEP): c.144+15C> T single nucleotide variant Uncertain significance rs776318015 GRCh38 Chromosome 7, 128252177: 128252177
11 LEP NM_000230.2(LEP): c.181G> A (p.Asp61Asn) single nucleotide variant Uncertain significance rs886061972 GRCh37 Chromosome 7, 127894493: 127894493
12 LEP NM_000230.2(LEP): c.181G> A (p.Asp61Asn) single nucleotide variant Uncertain significance rs886061972 GRCh38 Chromosome 7, 128254440: 128254440
13 LEP NM_000230.2(LEP): c.280G> A (p.Val94Met) single nucleotide variant Benign/Likely benign rs17151919 GRCh38 Chromosome 7, 128254539: 128254539
14 LEP NM_000230.2(LEP): c.280G> A (p.Val94Met) single nucleotide variant Benign/Likely benign rs17151919 GRCh37 Chromosome 7, 127894592: 127894592
15 LEP NM_000230.2(LEP): c.*204C> T single nucleotide variant Uncertain significance rs113405088 GRCh38 Chromosome 7, 128254967: 128254967
16 LEP NM_000230.2(LEP): c.*204C> T single nucleotide variant Uncertain significance rs113405088 GRCh37 Chromosome 7, 127895020: 127895020
17 LEP NM_000230.2(LEP): c.*422G> C single nucleotide variant Uncertain significance rs886061975 GRCh38 Chromosome 7, 128255185: 128255185
18 LEP NM_000230.2(LEP): c.*422G> C single nucleotide variant Uncertain significance rs886061975 GRCh37 Chromosome 7, 127895238: 127895238
19 LEP NM_000230.2(LEP): c.*785A> G single nucleotide variant Uncertain significance rs114834517 GRCh38 Chromosome 7, 128255548: 128255548
20 LEP NM_000230.2(LEP): c.*785A> G single nucleotide variant Uncertain significance rs114834517 GRCh37 Chromosome 7, 127895601: 127895601
21 LEP NM_000230.2(LEP): c.*1010C> A single nucleotide variant Uncertain significance rs138289049 GRCh38 Chromosome 7, 128255773: 128255773
22 LEP NM_000230.2(LEP): c.*1010C> A single nucleotide variant Uncertain significance rs138289049 GRCh37 Chromosome 7, 127895826: 127895826
23 LEP NM_000230.2(LEP): c.*1014C> G single nucleotide variant Uncertain significance rs151325384 GRCh38 Chromosome 7, 128255777: 128255777
24 LEP NM_000230.2(LEP): c.*1014C> G single nucleotide variant Uncertain significance rs151325384 GRCh37 Chromosome 7, 127895830: 127895830
25 LEP NM_000230.2(LEP): c.*1549T> C single nucleotide variant Uncertain significance rs201701012 GRCh38 Chromosome 7, 128256312: 128256312
26 LEP NM_000230.2(LEP): c.*1549T> C single nucleotide variant Uncertain significance rs201701012 GRCh37 Chromosome 7, 127896365: 127896365
27 LEP NM_000230.2(LEP): c.*1720A> G single nucleotide variant Benign rs10954174 GRCh38 Chromosome 7, 128256483: 128256483
28 LEP NM_000230.2(LEP): c.*1720A> G single nucleotide variant Benign rs10954174 GRCh37 Chromosome 7, 127896536: 127896536
29 LEP NM_000230.2(LEP): c.*2015C> A single nucleotide variant Uncertain significance rs28959471 GRCh38 Chromosome 7, 128256778: 128256778
30 LEP NM_000230.2(LEP): c.*2015C> A single nucleotide variant Uncertain significance rs28959471 GRCh37 Chromosome 7, 127896831: 127896831
31 LEP NM_000230.2(LEP): c.*2053G> A single nucleotide variant Uncertain significance rs17617757 GRCh37 Chromosome 7, 127896869: 127896869
32 LEP NM_000230.2(LEP): c.*2053G> A single nucleotide variant Uncertain significance rs17617757 GRCh38 Chromosome 7, 128256816: 128256816
33 LEP NM_000230.2(LEP): c.*2595C> A single nucleotide variant Likely benign rs28959475 GRCh37 Chromosome 7, 127897411: 127897411
34 LEP NM_000230.2(LEP): c.*2595C> A single nucleotide variant Likely benign rs28959475 GRCh38 Chromosome 7, 128257358: 128257358
35 LEP NM_000230.2(LEP): c.*2738G> A single nucleotide variant Uncertain significance rs201644572 GRCh37 Chromosome 7, 127897554: 127897554
36 LEP NM_000230.2(LEP): c.*2738G> A single nucleotide variant Uncertain significance rs201644572 GRCh38 Chromosome 7, 128257501: 128257501
37 LEP NM_000230.2(LEP): c.*150G> A single nucleotide variant Uncertain significance rs28954115 GRCh38 Chromosome 7, 128254913: 128254913
38 LEP NM_000230.2(LEP): c.*150G> A single nucleotide variant Uncertain significance rs28954115 GRCh37 Chromosome 7, 127894966: 127894966
39 LEP NM_000230.2(LEP): c.*300C> T single nucleotide variant Uncertain significance rs191600447 GRCh38 Chromosome 7, 128255063: 128255063
40 LEP NM_000230.2(LEP): c.*300C> T single nucleotide variant Uncertain significance rs191600447 GRCh37 Chromosome 7, 127895116: 127895116
41 LEP NM_000230.2(LEP): c.*1260A> G single nucleotide variant Uncertain significance rs144195028 GRCh38 Chromosome 7, 128256023: 128256023
42 LEP NM_000230.2(LEP): c.*1260A> G single nucleotide variant Uncertain significance rs144195028 GRCh37 Chromosome 7, 127896076: 127896076
43 LEP NM_000230.2(LEP): c.*2205G> A single nucleotide variant Likely benign rs41457646 GRCh37 Chromosome 7, 127897021: 127897021
44 LEP NM_000230.2(LEP): c.*2205G> A single nucleotide variant Likely benign rs41457646 GRCh38 Chromosome 7, 128256968: 128256968
45 LEP NM_000230.2(LEP): c.*2410G> A single nucleotide variant Likely benign rs28959474 GRCh37 Chromosome 7, 127897226: 127897226
46 LEP NM_000230.2(LEP): c.*2410G> A single nucleotide variant Likely benign rs28959474 GRCh38 Chromosome 7, 128257173: 128257173
47 LEP NM_000230.2(LEP): c.*2527G> T single nucleotide variant Uncertain significance rs886061979 GRCh38 Chromosome 7, 128257290: 128257290
48 LEP NM_000230.2(LEP): c.*2527G> T single nucleotide variant Uncertain significance rs886061979 GRCh37 Chromosome 7, 127897343: 127897343
49 LEP NM_000230.2(LEP): c.*2799C> T single nucleotide variant Uncertain significance rs200887574 GRCh37 Chromosome 7, 127897615: 127897615
50 LEP NM_000230.2(LEP): c.*2799C> T single nucleotide variant Uncertain significance rs200887574 GRCh38 Chromosome 7, 128257562: 128257562
Sources

Expression for Leptin Deficiency or Dysfunction

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

Pathways for Leptin Deficiency or Dysfunction

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

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 67
Show member pathways
 14.03 ADRB3 CCK GCG GHRL HCRT INS
2
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 67
Show member pathways
 13.41 ADIPOQ ADRB3 GCG INS LEP LEPR
3
Peptide ligand-binding receptors 67
Show member pathways
 13.24 ADRB3 CCK GCG GHRL HCRT LEP
4
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.25 ADIPOQ INS LEP LEPR PPARG
5
Peptide hormone metabolism 67
Show member pathways
 12.07 GCG GHRL INS LEP
7
G alpha (s) signalling events 67
11.94 ADRB3 GCG MC3R MC4R
8
Glucose / Energy Metabolism 4
11.92 ADIPOQ FTO GAD2 GCG INS PPARG
9
Sterol Regulatory Element-Binding Proteins (SREBP) signalling 1
11.58 INS LPL PPARG
10
Adipocytokine signaling pathway 38
11.54 ADIPOQ LEP LEPR
11
Signaling events mediated by PTP1B 1
11.37 INS LEP LEPR
12
PPAR signaling pathway 38
11.33 ADIPOQ FABP2 LPL PPARG
13
Adipogenesis 1
11.22 ADIPOQ INS LEP LPL PPARG RETN
14
Development_Leptin signaling via JAK/STAT and MAPK cascades 23
Show member pathways
 11.11 CRP LEP LEPR
15
Differentiation of white and brown adipocyte 1
10.98 ADIPOQ LEP PPARG
16
Transcription factor regulation in adipogenesis 1
10.89 ADIPOQ LEP PPARG
Sources

GO Terms for Leptin Deficiency or Dysfunction

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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 ADIPOQ CCK CRP GCG GHRL INS
2 extracellular region GO:0005576 9.4 ADIPOQ CCK CRP GCG GHRL HCRT
3 secretory granule lumen GO:0034774 9.33 GCG GHRL INS

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

(show all 35)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.96 ADIPOQ GAD2 LPL PPARG
2 G protein-coupled receptor signaling pathway GO:0007186 9.96 ADRB3 CCK GCG GHRL HCRT INS
3 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.85 ADRB3 GCG MC3R MC4R
4 response to nutrient GO:0007584 9.82 ADIPOQ LEP PPARG
5 response to insulin GO:0032868 9.8 LEP MC4R RETN
6 glucose metabolic process GO:0006006 9.8 ADIPOQ GHRL INS LEP
7 glucose homeostasis GO:0042593 9.8 ADIPOQ INS LEP LEPR PPARG
8 regulation of blood pressure GO:0008217 9.77 LEP MC3R PPARG
9 response to nutrient levels GO:0031667 9.77 ADIPOQ GHRL LEP
10 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.73 ADRB3 GCG MC3R MC4R
11 eating behavior GO:0042755 9.7 CCK HCRT LEP
12 negative regulation of gluconeogenesis GO:0045721 9.69 ADIPOQ INS LEPR
13 temperature homeostasis GO:0001659 9.67 FTO HCRT
14 positive regulation of cellular protein metabolic process GO:0032270 9.66 ADIPOQ INS
15 positive regulation of insulin receptor signaling pathway GO:0046628 9.65 INS LEP
16 regulation of fat cell differentiation GO:0045598 9.65 LEP PPARG
17 fatty acid oxidation GO:0019395 9.65 ADIPOQ PPARG
18 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.65 ADIPOQ CRP PPARG
19 sexual reproduction GO:0019953 9.64 LEP LEPR
20 adult feeding behavior GO:0008343 9.63 GHRL LEP
21 negative regulation of blood vessel diameter GO:0097756 9.63 CRP INS
22 regulation of feeding behavior GO:0060259 9.63 LEPR MC3R MC4R
23 leptin-mediated signaling pathway GO:0033210 9.62 LEP LEPR
24 feeding behavior GO:0007631 9.62 GCG HCRT MC4R PYY
25 negative regulation of appetite GO:0032099 9.61 CCK LEP
26 negative regulation of lipid storage GO:0010888 9.61 CRP LEP
27 negative regulation of acute inflammatory response GO:0002674 9.58 INS PPARG
28 regulation of bone remodeling GO:0046850 9.58 LEP LEPR
29 regulation of brown fat cell differentiation GO:0090335 9.57 FTO LEP
30 regulation of metabolic process GO:0019222 9.56 LEP MC4R
31 bone growth GO:0098868 9.54 LEP LEPR
32 negative regulation of feeding behavior GO:2000252 9.54 INS MC4R RETN
33 energy reserve metabolic process GO:0006112 9.46 ADRB3 LEP LEPR MC4R
34 positive regulation of cold-induced thermogenesis GO:0120162 9.43