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LEPD
MCID: LPT014
MIFTS: 73

Leptin Deficiency or Dysfunction (LEPD)

Categories: Endocrine diseases, Genetic diseases, Metabolic diseases, Neuronal 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 56 12 52 73 29 6 71
Obesity Due to Congenital Leptin Deficiency 12 52 25 58 73
Morbid Obesity 12 29 6 15 17
Lepd 56 12 52 25 73
Obesity, Morbid, Due to Leptin Deficiency 56 25 13
Leptin Deficiency 25 73 36
Obesity, Severe, Due to Leptin Deficiency 25 39
Obesity, Morbid, Nonsyndromic 1 52 25
Congenital Leptin Deficiency 12 25
Obesity, Morbid 56 43
Severe Obesity 12 15
Morbid Obesity Due to Leptin Deficiency 73
Non-Syndromic Morbid Obesity 1 73
Leptin Dysfunction 6
Obesity Morbid 54
Leptin 17

Characteristics:

Orphanet epidemiological data:

58
obesity due to congenital leptin deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

56
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:

31
leptin deficiency or dysfunction:
Inheritance autosomal recessive inheritance


Classifications:

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


Sources

Summaries for Leptin Deficiency or Dysfunction

About this section
NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 66628 Definition Congenital leptin deficiency is a form of monogenic obesity characterised by severe early-onset obesity and marked hyperphagia. Epidemiology It has been described in less than 30 patients. Clinical description Patients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells , and impaired T cell proliferation and cytokine release. Other features of the disorder include hyperinsulinaemia, advanced bone age, hypothalamic hypothyroidism and hypogonadotropic hypogonadism leading to a failure to undergo puberty. Etiology Leptin is an adipocyte-derived hormone that plays an important role in energy balance and appetite suppression. Whilst the majority of obese patients display hyperleptinaemia, patients with congenital leptin deficiency have undetectable levels of leptin in the serum. This absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait . However, a similar phenotype has been observed in three individuals from one consanguineous family who carried homozygous mutations in the gene encoding the leptin receptor (LEPR , 1p31). Diagnostic methods Family history , severe hyperphagia and early-onset obesity may lead to suspicion of a monogenic obesity syndrome . The diagnosis of congenital leptin deficiency can be confirmed by analysis of serum leptin levels or identification of mutations in the ob gene. Management and treatment Congenital leptin deficiency can be successfully treated with daily subcutaneous injections of recombinant human leptin, resulting in sustained positive effects on weight loss, reducing appetite, appropriate pubertal development and hyperinsulinaemia. Prognosis As a result, the prognosis for patients undergoing treatment appears to be excellent. However, misdiagnosed patients are at risk of developing the complications normally associated with severe obesity (in particular type 2 diabetes), with the prognosis being hampered further by an increased rate of mortality due to childhood infection. Visit the Orphanet disease page for more resources.

MalaCards based summary : Leptin Deficiency or Dysfunction, also known as obesity due to congenital leptin deficiency, is related to congenital generalized lipodystrophy and gastroesophageal reflux, 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, bone and breast, and related phenotypes are obesity and decreased serum leptin

Disease Ontology : 12 A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has material basis in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1.

Genetics Home Reference : 25 Congenital leptin 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. Without treatment, the extreme hunger continues and 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 congenital leptin deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Without treatment, affected individuals experience delayed puberty or do not go through puberty, and may be unable to conceive children (infertile).

OMIM : 56 Leptin deficiency is characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (Ozata et al., 1999). (614962)

KEGG : 36 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.

UniProtKB/Swiss-Prot : 73 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 1137)
# Related Disease Score Top Affiliating Genes
1 congenital generalized lipodystrophy 33.6 PPARG LEP INS ADIPOQ
2 gastroesophageal reflux 31.7 PYY GHRL GCG CCK ADIPOQ
3 fatty liver disease 31.7 RETN PPARG LEPR LEP INS ADIPOQ
4 liver disease 31.6 RETN LEPR LEP INS ADIPOQ
5 cholelithiasis 31.5 LEP INS CCK
6 non-alcoholic fatty liver disease 31.4 RETN PPARG LPL LEPR LEP INS
7 fatty liver disease, nonalcoholic 1 31.4 RETN LEP INS ADIPOQ
8 dumping syndrome 31.3 PYY INS GHRL GCG CCK
9 osteoporosis 31.3 PPARG LEPR LEP INS GHRL ADIPOQ
10 obesity-hypoventilation syndrome 31.2 RETN LEP ADIPOQ
11 lipodystrophy, congenital generalized, type 1 31.1 PPARG LEP INS ADIPOQ
12 pain agnosia 31.1 POMC CCK ADRB3
13 apnea, obstructive sleep 31.1 RETN LEP INS HCRT GHRL GCG
14 berardinelli-seip congenital lipodystrophy 31.1 PPARG LEP
15 eating disorder 31.0 PYY POMC MC4R LEPR LEP HCRT
16 liver cirrhosis 31.0 RETN LEPR LEP ADIPOQ
17 hypoglycemia 31.0 POMC INS GHRL GCG
18 proteasome-associated autoinflammatory syndrome 1 30.9 RETN PPARG INS ADIPOQ
19 kidney disease 30.9 RETN PPARG LEP INS GCG ADIPOQ
20 ileus 30.9 POMC INS GHRL CCK
21 hyperuricemia 30.9 LEP INS ADRB3
22 familial partial lipodystrophy 30.9 RETN PPARG LEP INS ADIPOQ
23 irritable bowel syndrome 30.9 PYY POMC GHRL CCK
24 coronary heart disease 1 30.9 RETN LPL INS ADIPOQ
25 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.9 LEP INS ADIPOQ
26 genetic obesity 30.9 LEPR LEP
27 non-alcoholic steatohepatitis 30.8 PPARG INS ADIPOQ
28 atherosclerosis susceptibility 30.8 RETN PPARG LPL LEP INS ADIPOQ
29 familial hyperlipidemia 30.8 PPARG LPL LEP INS ADRB3 ADIPOQ
30 arteriosclerosis 30.8 PPARG INS GHRL ADIPOQ
31 alcohol dependence 30.8 POMC LEP HCRT GHRL GAD2 CCK
32 acanthosis nigricans 30.8 PPARG LEP INS ADIPOQ
33 gallbladder disease 30.8 PYY INS CCK
34 pericarditis 30.8 RETN LEP ADIPOQ
35 anxiety 30.7 POMC INS HCRT GAD2 CCK
36 amenorrhea 30.7 POMC LEP INS GHRL
37 severe pre-eclampsia 30.7 LEPR LEP ADIPOQ
38 vascular disease 30.7 RETN PPARG LPL LEP INS ADIPOQ
39 sleep disorder 30.7 POMC LEP INS HCRT GHRL ADIPOQ
40 syndromic obesity 30.7 SIM1 POMC LEPR LEP
41 uremia 30.7 RETN LPL LEP INS
42 polycystic ovary syndrome 30.7 RETN POMC LEP INS GHRL ADIPOQ
43 hyperlipidemia, familial combined, 3 30.6 LPL INS FABP2 ADRB3 ADIPOQ
44 acute pancreatitis 30.6 RETN LPL INS CCK
45 glucose intolerance 30.6 RETN PPARG POMC LPL LEPR LEP
46 hyperglycemia 30.6 RETN PYY PPARG LPL LEP INS
47 craniopharyngioma 30.6 LEPR INS GHRL
48 chronic kidney disease 30.6 RETN POMC LPL LEPR LEP INS
49 nutritional deficiency disease 30.6 RETN LEPR LEP GHRL CCK ADIPOQ
50 lipoblastoma 30.6 LEPR LEP

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:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 obesity 58 31 obligate (100%) Obligate (100%) HP:0001513
2 decreased serum leptin 58 31 obligate (100%) Obligate (100%) HP:0003292
3 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
4 hyperinsulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000842
5 hypergonadotropic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000815
6 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%) HP:0008187
7 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
8 polyphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002591
9 decreased proportion of cd4-positive t cells 58 31 hallmark (90%) Very frequent (99-80%) HP:0005407
10 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
11 decreased serum estradiol 58 31 hallmark (90%) Very frequent (99-80%) HP:0008214
12 decreased t cell activation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005419
13 hypoplasia of the ovary 58 31 hallmark (90%) Very frequent (99-80%) HP:0008724
14 decreased serum testosterone level 31 hallmark (90%) HP:0040171
15 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
16 recurrent upper respiratory tract infections 58 31 frequent (33%) Frequent (79-30%) HP:0002788
17 accelerated skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0005616
18 insulin-resistant diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000831
19 orthostatic hypotension due to autonomic dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0004926
20 pituitary hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0008245
21 hypogonadism 31 HP:0000135
22 micropenis 31 HP:0000054
23 recurrent ear infections 31 HP:0410018
24 recurrent pneumonia 31 HP:0006532
25 decreased testosterone in males 58 Very frequent (99-80%)
26 abnormal eating behavior 31 HP:0100738

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Female:
primary amenorrhea
small ovaries

Head And Neck Ears:
recurrent ear infections

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

Chest Breasts:
gynecomastia

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:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 10.41 ADIPOQ ADRB3 AGRP FABP2 GHRL INS
2 homeostasis/metabolism MP:0005376 10.41 ADIPOQ ADRB3 AGRP CCK FABP2 GAD2
3 behavior/neurological MP:0005386 10.37 ADIPOQ ADRB3 AGRP GAD2 GHRL HCRT
4 growth/size/body region MP:0005378 10.36 ADIPOQ ADRB3 AGRP FABP2 GAD2 HCRT
5 endocrine/exocrine gland MP:0005379 10.22 ADIPOQ ADRB3 CCK GAD2 GHRL INS
6 liver/biliary system MP:0005370 10.14 ADIPOQ AGRP FABP2 INS LEP LEPR
7 nervous system MP:0003631 10.13 ADIPOQ AGRP CCK GAD2 HCRT INS
8 muscle MP:0005369 9.97 ADIPOQ GAD2 HCRT INS LEP LEPR
9 no phenotypic analysis MP:0003012 9.86 AGRP CCK GAD2 INS LEPR MC4R
10 normal MP:0002873 9.81 AGRP GAD2 GHRL INS LEPR MC4R
11 renal/urinary system MP:0005367 9.61 ADIPOQ CCK FABP2 INS LEP LEPR
12 respiratory system MP:0005388 9.17 ADIPOQ GAD2 HCRT LEP LEPR LPL
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 599)
# 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
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
6
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
7 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
8
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
10
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
11
Acetaminophen Approved Phase 4 103-90-2 1983
12
Cefazolin Approved Phase 4 25953-19-9 656510 33255
13
Enoxaparin Approved Phase 4 9005-49-6 772
14
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
15
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
16
Ibuprofen Approved Phase 4 15687-27-1 3672
17
Atorvastatin Approved Phase 4 134523-00-5 60823
18
Micafungin Approved, Investigational Phase 4 235114-32-6 3081921 477468
19
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
20
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
21
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
22
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
23
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
24
Coal tar Approved Phase 4 8007-45-2
25
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
26
Metformin Approved Phase 4 657-24-9 14219 4091
27
Anidulafungin Approved, Investigational Phase 4 166663-25-8 166548
28
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
29
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
30
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
31
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
32
Pramlintide Approved, Investigational Phase 4 151126-32-8
33
Fenofibrate Approved Phase 4 49562-28-9 3339
34
Ferrous fumarate Approved Phase 4 141-01-5
35
Ferrous gluconate Approved Phase 4 299-29-6
36
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
37
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
38
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
39
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
40
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
41
Diphenhydramine Approved, Investigational Phase 4 147-24-0, 58-73-1 3100
42
Promethazine Approved, Investigational Phase 4 60-87-7 4927
43
Iloperidone Approved Phase 4 133454-47-4 71360
44
Insulin glargine Approved Phase 4 160337-95-1
45
Insulin detemir Approved Phase 4 169148-63-4 5311023
46
Bromocriptine Approved, Investigational Phase 4 25614-03-3 31101
47
Insulin lispro Approved Phase 4 133107-64-9
48
Insulin aspart Approved Phase 4 116094-23-6 16132418
49
Verapamil Approved Phase 4 52-53-9 2520
50
Pasireotide Approved Phase 4 396091-73-9 9941444

Interventional clinical trials:

(show top 50) (show all 1595)
# 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 Effects of Chenodeoxycholic Acid and Colesevelam on GLP-1 Secretion, During a Meal, After Roux-en-Y Gastric Bypass Unknown status NCT02876484 Phase 4 Colesevelam;Chenodeoxycholic Acid
4 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
5 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
6 A Study of the Pharmacokinetics of Dexmedetomidine in Morbid Obesity. Unknown status NCT01864187 Phase 4 Dexmedetomidine
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 Vitamin Deficiencies and Suppletion in Morbid Obesity Unknown status NCT02270749 Phase 4 Hydroxocobalamin;FitForMe vitamin B12
9 International, Multi Centre, Open, Prospective, Randomized Study: Banded Versus Conventional Laparoscopic Roux-en-Y (GABY) Unknown status NCT01015469 Phase 4
10 Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot) Unknown status NCT02959853 Phase 4 Anastrazole
11 Prospective Randomized Study of Effects of Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Sleeve Gastrectomy Unknown status NCT00667706 Phase 4
12 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
13 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
14 Gut Hormones as Mediators of Different Weight Loss Responses After Roux-en-Y Gastric Bypass Unknown status NCT02374632 Phase 4
15 Efficacy of Vitamin D Supplementation in Obese Children Unknown status NCT02956408 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 The Impact of Conventional Hemodialysis, High Flux Hemodialysis and Hemodiafiltration on Adiponectin, Vascular Function and Clinical Prognosis Unknown status NCT00155363 Phase 4
22 Endobarrier Treatment in Obese Subjects With T2DM Unknown status NCT01718457 Phase 4
23 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
24 The Therapeutic Effect of Catgut Embedding in Obesity-A Randomized, Double-blind, Placebo-controlled Clinical Trial Unknown status NCT02276235 Phase 4
25 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
26 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
27 A Study on the Efficacy, Pharmacokinetics and Adverse Effects of Paliperidone ER Unknown status NCT02433717 Phase 4 Paliperidone ER
28 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
29 Randomized Clinical Trial Between Laparoscopic Gastric Bypass and Laparoscopic Vertical Banded Gastroplasty for Morbid Obesity Completed NCT01639677 Phase 4
30 Pharmacokinetics of Intravenous Acetaminophen and Its Metabolites in Morbidly Obese Patients Completed NCT01764555 Phase 4 acetaminophen 2 g
31 CYP3A4 Metabolism Before and After Surgery Induced Weight Loss in Morbidly Obese Patients Using Midazolam as a Model Drug Completed NCT01519726 Phase 4 Midazolam
32 Effects of Ursodeoxycholic Acid and Chenodeoxycholic Acid on GLP-1 Secretion After Roux-en-Y Gastric Bypass Completed NCT02340247 Phase 4 Ursodeoxycholic Acid;Chenodeoxycholic Acid
33 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
34 Comparisons of iv Ibuprofen and iv Paracetamol for Postoperative Pain Levels and Opioid Consumption During Bariatric Surgery Completed NCT02778958 Phase 4 paracetamol;ibuprofen
35 Investigations on the Influence of Bariatric Surgery on the Metabolism and Absorption of Atorvastatin Completed NCT00331565 Phase 4
36 Micafungin (Mycamine®) Pharmacokinetics Given as a Single Intravenous Dose to Obese Patients (MICADO). Completed NCT03102658 Phase 4 Micafungin
37 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
38 Pharmacokinetics (PK) of Propofol in Bariatric (Morbidly Obese) Patients Completed NCT01536002 Phase 4 Propofol
39 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
40 A Prospective Randomized Clinical Trial Evaluating Surgical Conditions During Laparoscopic Bariatric Surgery With Deep Versus Moderate Neuromuscular Blockade Completed NCT02703909 Phase 4 Rocuronium
41 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
42 Clinical, Microbial and Biochemistry Evaluation of Obese Individuals Submitted to One-stage Full-mouth Disinfection. A Clinical Control Parallel Study Completed NCT03103204 Phase 4
43 Pharmacokinetics of Liposomal Amphotericin B (AmBisome®) Given Intravenously to Patients Undergoing Bariatric Surgery Completed NCT02320604 Phase 4 Administration of study drug
44 Efficacy and Tolerability of Garcinia Mangostana Extracts in the Management of Weight Loss in Severe Obese Patients Completed NCT02823561 Phase 4
45 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
46 Population Pharmacokinetics and Pharmacodynamics of Propofol in the Morbidly Obese Patient Completed NCT00395681 Phase 4 Diprivan
47 Increased Cefazolin (Ancef) Dosing for Prophylaxis During Cesarean Delivery in the Obese Population Completed NCT02049944 Phase 4 Cefazolin
48 Use Of Esomeprazole In Postoperative Bariatric Surgery Patients Users And Non-Users Of Nonsteroidal Anti-Inflammatory Drugs (NSAIDS) Completed NCT00608712 Phase 4 Esomeprazole
49 Intravenous Ibuprofen for Laparoscopic Bariatric Surgery Completed NCT01707251 Phase 4 Intravenous Ibuprofen;Saline
50 Suture Granuloma in Body Contouring Surgery Completed NCT00223132 Phase 4

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 29 LEP
2 Morbid Obesity 29
Sources

Anatomical Context for Leptin Deficiency or Dysfunction

About this section

MalaCards organs/tissues related to Leptin Deficiency or Dysfunction:

40
Liver, Bone, Breast, Kidney, Brain, Heart, Thyroid
Sources

Publications for Leptin Deficiency or Dysfunction

About this section

Articles related to Leptin Deficiency or Dysfunction:

(show top 50) (show all 8044)
# Title Authors PMID Year
1
Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults. 54 61 56 6
15070752 2004
2
A leptin missense mutation associated with hypogonadism and morbid obesity. 54 61 56 6
9500540 1998
3
Biologically inactive leptin and early-onset extreme obesity. 56 6
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. 56 6
15472169 2004
5
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Leptin-deficient mice exhibit impaired host defense in Gram-negative pneumonia. 56
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Partial leptin deficiency and human adiposity. 56
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Sources

Variations for Leptin Deficiency or Dysfunction

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ClinVar genetic disease variations for Leptin Deficiency or Dysfunction:

6 (show all 49) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PPARG NM_001354669.1(PPARG):c.-180C>ASNV Pathogenic 8130 rs1800571 3:12422848-12422848 3:12381349-12381349
2 LEP LEP, 1-BP DEL, FS147TERdeletion Pathogenic 13986
3 LEP NM_000230.3(LEP):c.313C>T (p.Arg105Trp)SNV Pathogenic 13987 rs104894023 7:127894625-127894625 7:128254572-128254572
4 LEP NM_000230.3(LEP):c.298G>T (p.Asp100Tyr)SNV Pathogenic 162430 rs724159998 7:127894610-127894610 7:128254557-128254557
5 LEP NM_000230.3(LEP):c.461T>C (p.Leu154Pro)SNV Likely pathogenic 448905 rs1554394014 7:127894773-127894773 7:128254720-128254720
6 LEP NM_000230.3(LEP):c.21C>T (p.Cys7=)SNV Conflicting interpretations of pathogenicity 358815 rs201523305 7:127892092-127892092 7:128252039-128252039
7 LEP NM_000230.3(LEP):c.*34G>ASNV Uncertain significance 358820 rs28954114 7:127894850-127894850 7:128254797-128254797
8 LEP NM_000230.3(LEP):c.*69A>GSNV Uncertain significance 358821 rs886061974 7:127894885-127894885 7:128254832-128254832
9 LEP NM_000230.3(LEP):c.*366A>TSNV Uncertain significance 358826 rs28954118 7:127895182-127895182 7:128255129-128255129
10 LEP NM_000230.3(LEP):c.*992G>TSNV Uncertain significance 358830 rs886061976 7:127895808-127895808 7:128255755-128255755
11 LEP NM_000230.3(LEP):c.*2015C>ASNV Uncertain significance 358840 rs28959471 7:127896831-127896831 7:128256778-128256778
12 LEP NM_000230.3(LEP):c.*2053G>ASNV Uncertain significance 358841 rs17617757 7:127896869-127896869 7:128256816-128256816
13 LEP NM_000230.3(LEP):c.*2527G>TSNV Uncertain significance 358848 rs886061979 7:127897343-127897343 7:128257290-128257290
14 LEP NM_000230.3(LEP):c.*2799C>TSNV Uncertain significance 358853 rs200887574 7:127897615-127897615 7:128257562-128257562
15 LEP NM_000230.3(LEP):c.*1640C>TSNV Uncertain significance 358837 rs201065449 7:127896456-127896456 7:128256403-128256403
16 LEP NM_000230.3(LEP):c.*1678C>TSNV Uncertain significance 358838 rs188857005 7:127896494-127896494 7:128256441-128256441
17 LEP NM_000230.3(LEP):c.*2224G>ASNV Uncertain significance 358843 rs28959472 7:127897040-127897040 7:128256987-128256987
18 LEP NM_000230.3(LEP):c.*2234G>ASNV Uncertain significance 358844 rs886061977 7:127897050-127897050 7:128256997-128256997
19 LEP NM_000230.3(LEP):c.*2267A>CSNV Uncertain significance 358846 rs886061978 7:127897083-127897083 7:128257030-128257030
20 LEP NM_000230.3(LEP):c.*2579G>ASNV Uncertain significance 358849 rs200738664 7:127897395-127897395 7:128257342-128257342
21 LEP NM_000230.3(LEP):c.*2595C>TSNV Uncertain significance 358851 rs28959475 7:127897411-127897411 7:128257358-128257358
22 LEP NM_000230.3(LEP):c.*2819_*2822dupduplication Uncertain significance 358856 rs56247456 7:127897620-127897621 7:128257567-128257568
23 LEP NM_000230.3(LEP):c.144+15C>TSNV Uncertain significance 358816 rs776318015 7:127892230-127892230 7:128252177-128252177
24 LEP NM_000230.3(LEP):c.181G>A (p.Asp61Asn)SNV Uncertain significance 358817 rs886061972 7:127894493-127894493 7:128254440-128254440
25 LEP NM_000230.3(LEP):c.*204C>TSNV Uncertain significance 358823 rs113405088 7:127895020-127895020 7:128254967-128254967
26 LEP NM_000230.3(LEP):c.*422G>CSNV Uncertain significance 358828 rs886061975 7:127895238-127895238 7:128255185-128255185
27 LEP NM_000230.3(LEP):c.*785A>GSNV Uncertain significance 358829 rs114834517 7:127895601-127895601 7:128255548-128255548
28 LEP NM_000230.3(LEP):c.*1010C>ASNV Uncertain significance 358831 rs138289049 7:127895826-127895826 7:128255773-128255773
29 LEP NM_000230.3(LEP):c.*1014C>GSNV Uncertain significance 358832 rs151325384 7:127895830-127895830 7:128255777-128255777
30 LEP NM_000230.3(LEP):c.*1549T>CSNV Uncertain significance 358836 rs201701012 7:127896365-127896365 7:128256312-128256312
31 LEP NM_000230.3(LEP):c.*2738G>ASNV Uncertain significance 358852 rs201644572 7:127897554-127897554 7:128257501-128257501
32 LEP NM_000230.3(LEP):c.*150G>ASNV Uncertain significance 358822 rs28954115 7:127894966-127894966 7:128254913-128254913
33 LEP NM_000230.3(LEP):c.*300C>TSNV Uncertain significance 358824 rs191600447 7:127895116-127895116 7:128255063-128255063
34 LEP NM_000230.3(LEP):c.*1260A>GSNV Uncertain significance 358834 rs144195028 7:127896076-127896076 7:128256023-128256023
35 LEP NM_000230.3(LEP):c.*2822dupduplication Uncertain significance 358854 rs56247456 7:127897620-127897621 7:128257567-128257568
36 LEP NM_000230.3(LEP):c.212C>A (p.Thr71Asn)SNV Uncertain significance 358818 rs886061973 7:127894524-127894524 7:128254471-128254471
37 LEP NM_000230.3(LEP):c.*360G>ASNV Uncertain significance 358825 rs200748706 7:127895176-127895176 7:128255123-128255123
38 LEP NM_000230.3(LEP):c.*1428C>ASNV Uncertain significance 358835 rs76601079 7:127896244-127896244 7:128256191-128256191
39 LEP NM_000230.3(LEP):c.*2253C>ASNV Likely benign 358845 rs11761556 7:127897069-127897069 7:128257016-128257016
40 LEP NM_000230.3(LEP):c.*400G>TSNV Likely benign 358827 rs17151922 7:127895216-127895216 7:128255163-128255163
41 LEP NM_000230.3(LEP):c.*2205G>ASNV Likely benign 358842 rs41457646 7:127897021-127897021 7:128256968-128256968
42 LEP NM_000230.3(LEP):c.*2410G>ASNV Likely benign 358847 rs28959474 7:127897226-127897226 7:128257173-128257173
43 LEP NM_000230.3(LEP):c.-39G>ASNV Likely benign 358814 rs2167270 7:127881349-127881349 7:128241296-128241296
44 LEP NM_000230.3(LEP):c.*2820_*2822dupduplication Likely benign 358855 rs56247456 7:127897620-127897621 7:128257567-128257568
45 LEP NM_000230.3(LEP):c.*2595C>ASNV Likely benign 358850 rs28959475 7:127897411-127897411 7:128257358-128257358
46 LEP NM_000230.3(LEP):c.*1243A>GSNV Likely benign 358833 rs6966536 7:127896059-127896059 7:128256006-128256006
47 LEP NM_000230.3(LEP):c.280G>A (p.Val94Met)SNV Benign/Likely benign 358819 rs17151919 7:127894592-127894592 7:128254539-128254539
48 UCP3 NM_003356.4(UCP3):c.824+1G>ASNV Benign 7578 11:73714871-73714871 11:74003826-74003826
49 LEP NM_000230.3(LEP):c.*1720A>GSNV Benign 358839 rs10954174 7:127896536-127896536 7:128256483-128256483

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

73
# Symbol AA change Variation ID SNP ID
1 LEP p.Arg105Trp VAR_008094 rs104894023
2 LEP p.Asp100Tyr VAR_075144 rs724159998

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 KEGG:

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

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

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 65
Show member pathways
 14.07 PYY POMC MC4R MC3R LPL LEPR
2
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 65
Show member pathways
 13.43 PPARG LPL LEPR LEP INS GCG
3
Peptide ligand-binding receptors 65
Show member pathways
 13.34 PYY POMC MC4R MC3R LEPR LEP
4
Glucose / Energy Metabolism 4
12.42 PPARG INS GCG GAD2 ADIPOQ
5
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.32 PPARG LEPR LEP INS ADIPOQ
6
Peptide hormone metabolism 65
Show member pathways
 12.06 POMC LEP INS GHRL GCG
8
G alpha (s) signalling events 65
11.93 POMC MC4R MC3R GCG ADRB3
9
PPAR signaling pathway 36
11.64 PPARG LPL FABP2 ADIPOQ
10
Sterol Regulatory Element-Binding Proteins (SREBP) signalling 1
11.61 PPARG LPL INS
11
Adipogenesis 1
11.55 RETN PPARG LPL LEP INS ADIPOQ
12
Signaling events mediated by PTP1B 1
11.42 LEPR LEP INS
13
Adipocytokine signaling pathway 36
11.39 POMC LEPR LEP AGRP ADIPOQ
14
Development_Leptin signaling via JAK/STAT and MAPK cascades 22
Show member pathways
 11.18 POMC LEPR LEP
15
Differentiation of white and brown adipocyte 1
11.07 PPARG LEP ADIPOQ
16
Transcription factor regulation in adipogenesis 1
11 PPARG LEP ADIPOQ
17
Syndecan-3-mediated signaling events 1
10.84 POMC MC4R AGRP
18
Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics 60
10.53 PYY POMC MC4R LEPR LEP INS
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 9.7 RETN PYY POMC LPL LEP INS
2 secretory granule lumen GO:0034774 9.46 POMC INS GHRL GCG
3 extracellular region GO:0005576 9.44 RETN PYY POMC LPL LEPR LEP

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 signal transduction GO:0007165 10.2 RETN PPARG POMC MC4R MC3R LEP
2 G protein-coupled receptor signaling pathway GO:0007186 10 PYY PPARG POMC MC4R MC3R INS
3 response to drug GO:0042493 9.96 PPARG LPL GAD2 ADIPOQ
4 neuropeptide signaling pathway GO:0007218 9.87 PYY POMC HCRT AGRP
5 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.86 MC4R MC3R GCG ADRB3
6 response to insulin GO:0032868 9.84 RETN MC4R LEP AGRP
7 circadian rhythm GO:0007623 9.83 LEP AGRP ADIPOQ
8 regulation of blood pressure GO:0008217 9.83 PPARG POMC MC3R LEP
9 response to nutrient GO:0007584 9.81 PPARG LEP ADIPOQ
10 glucose metabolic process GO:0006006 9.81 LEP INS GHRL ADIPOQ
11 response to nutrient levels GO:0031667 9.8 LEP GHRL ADIPOQ
12 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.8 MC4R MC3R GCG ADRB3
13 glucose homeostasis GO:0042593 9.8 PPARG POMC LEPR LEP INS ADIPOQ
14 hormone-mediated signaling pathway GO:0009755 9.77 PPARG GHRL AGRP
15 generation of precursor metabolites and energy GO:0006091 9.77 POMC ADRB3 ADIPOQ
16 negative regulation of gluconeogenesis GO:0045721 9.72 LEPR INS ADIPOQ
17 eating behavior GO:0042755 9.71 LEP HCRT CCK AGRP
18 energy reserve metabolic process GO:0006112 9.67 MC4R LEPR LEP ADRB3
19 positive regulation of cellular protein metabolic process GO:0032270 9.66 INS