Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
LEPD
MCID: LPT014
MIFTS: 77

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 57 12 20 72 29 6 70
Morbid Obesity 12 72 29 6 15 17
Obesity Due to Congenital Leptin Deficiency 12 20 43 58 72
Lepd 57 12 20 43 72
Congenital Leptin Deficiency 12 43 15 70
Obesity, Morbid 57 6 44 70
Obesity, Morbid, Due to Leptin Deficiency 57 43 13
Leptin Deficiency 43 72 36
Obesity, Severe, Due to Leptin Deficiency 43 39
Obesity, Morbid, Nonsyndromic 1 20 43
Severe Obesity 12 15
Morbid Obesity Due to Leptin Deficiency 72
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®:

57 (Updated 05-Apr-2021)
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
GARD : 20 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.

MalaCards based summary : Leptin Deficiency or Dysfunction, also known as morbid obesity, is related to congenital generalized lipodystrophy and sleep apnea, 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 Sodium citrate and Rocuronium have been mentioned in the context of this disorder. Affiliated tissues include liver, adipocyte and bone, 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.

MedlinePlus Genetics : 43 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® : 57 Leptin deficiency is characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction (Ozata et al., 1999). (614962) (Updated 05-Apr-2021)

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 : 72 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 1170)
# Related Disease Score Top Affiliating Genes
1 congenital generalized lipodystrophy 32.5 PPARG LEP INS ADIPOQ
2 sleep apnea 32.0 RETN MC4R LEPR LEP INS HCRT
3 non-alcoholic fatty liver disease 31.9 RETN PPARG LEPR LEP INS GCG
4 gastroesophageal reflux 31.9 PYY NPY GHRL GCG CCK ADIPOQ
5 lipid metabolism disorder 31.9 RETN PPARG LEP INS ADRB3 ADIPOQ
6 fatty liver disease 31.8 RETN PPARG LEPR LEP INS ADIPOQ
7 liver disease 31.8 RETN LEPR LEP INS ADIPOQ
8 non-alcoholic steatohepatitis 31.7 PPARG LEPR INS GHRL ADIPOQ
9 cardiovascular system disease 31.6 RETN PPARG NPY LEPR LEP INS
10 cholelithiasis 31.6 LEP INS CCK
11 eating disorder 31.5 PYY POMC NPY MC4R LEPR LEP
12 dumping syndrome 31.4 PYY INS GHRL GCG CCK
13 diabetes mellitus 31.4 UCP3 RETN PYY PPARG POMC NPY
14 apnea, obstructive sleep 31.4 RETN LEP INS HCRT GHRL GCG
15 type 2 diabetes mellitus 31.4 UCP3 RETN PYY PPARG POMC NPY
16 gestational diabetes 31.3 RETN PPARG LEPR LEP INS GCG
17 obesity-hypoventilation syndrome 31.3 RETN LEP ADIPOQ
18 hypertension, essential 31.3 RETN PPARG POMC NPY MC4R LEPR
19 prader-willi syndrome 31.3 SIM1 RETN PYY POMC NPY MC4R
20 liver cirrhosis 31.2 RETN PPARG NPY LEPR LEP INS
21 osteoporosis 31.2 RETN PPARG LEPR LEP INS GHRL
22 bone resorption disease 31.2 PPARG LEP INS
23 diarrhea 31.2 PYY POMC LEP CCK
24 atherosclerosis susceptibility 31.2 RETN PPARG LEP INS ADIPOQ
25 glucose intolerance 31.2 RETN PPARG POMC LEPR LEP INS
26 hernia, hiatus 31.1 GHRL ADIPOQ
27 hyperuricemia 31.1 PPARG LEP INS ADRB3
28 irritable bowel syndrome 31.1 PYY POMC GHRL CCK
29 peripheral nervous system disease 31.1 PPARG POMC NPY INS GCG
30 proteasome-associated autoinflammatory syndrome 1 31.1 RETN PPARG INS ADIPOQ
31 ileus 31.1 POMC INS GHRL CCK
32 gallbladder disease 31.0 PYY INS CCK
33 vascular disease 31.0 RETN PPARG LEP INS ADIPOQ
34 anorexia nervosa 31.0 RETN PYY POMC NPY MC4R MC3R
35 hyperglycemia 31.0 RETN PYY PPARG LEP INS GHRL
36 polycystic ovary syndrome 30.9 RETN PPARG LEP INS GHRL ADIPOQ
37 migraine with or without aura 1 30.9 POMC NPY LEP INS HCRT CCK
38 familial hyperlipidemia 30.9 PPARG LEP INS ADRB3 ADIPOQ
39 sleep disorder 30.9 POMC NPY LEP INS HCRT GHRL
40 acanthosis nigricans 30.9 PPARG LEP INS ADIPOQ
41 genetic obesity 30.9 LEPR LEP
42 syndromic obesity 30.9 SIM1 POMC LEPR LEP
43 chronic kidney disease 30.8 RETN PPARG POMC NPY LEPR LEP
44 carcinoid syndrome 30.8 PYY NPY
45 hyperinsulinism 30.8 RETN PPARG NPY LEPR LEP INS
46 celiac disease 1 30.8 PYY INS GHRL GCG CCK
47 nutritional deficiency disease 30.8 RETN NPY LEPR LEP GHRL CCK
48 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.8 SIM1 SH2B1 MC4R
49 craniopharyngioma 30.8 LEPR INS GHRL
50 uremia 30.8 RETN LEP INS

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 27)
# 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 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
6 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
7 hypergonadotropic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000815
8 decreased serum estradiol 58 31 hallmark (90%) Very frequent (99-80%) HP:0008214
9 polyphagia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002591
10 hypoplasia of the ovary 58 31 hallmark (90%) Very frequent (99-80%) HP:0008724
11 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%) HP:0008187
12 decreased t cell activation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005419
13 decreased serum testosterone level 31 hallmark (90%) HP:0040171
14 decreased proportion of cd4-positive helper t cells 31 hallmark (90%) HP:0005407
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 orthostatic hypotension due to autonomic dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0004926
19 pituitary hypothyroidism 58 31 frequent (33%) Frequent (79-30%) HP:0008245
20 insulin-resistant diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000831
21 micropenis 31 HP:0000054
22 recurrent pneumonia 31 HP:0006532
23 hypogonadism 31 HP:0000135
24 decreased testosterone in males 58 Very frequent (99-80%)
25 decreased proportion of cd4-positive t cells 58 Very frequent (99-80%)
26 abnormal eating behavior 31 HP:0100738
27 recurrent ear infections 31 HP:0410018

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Female:
primary amenorrhea
small ovaries

Genitourinary:
hypogonadism

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
Chest Breasts:
gynecomastia

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 (Updated 05-Apr-2021)

UMLS symptoms related to Leptin Deficiency or Dysfunction:


obesity, metabolically benign

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.74 PPARG
2 Decreased viability GR00221-A-2 9.74 PPARG
3 Decreased viability GR00221-A-3 9.74 PPARG
4 Decreased viability GR00221-A-4 9.74 PPARG
5 Decreased viability GR00240-S-1 9.74 MC3R
6 Decreased viability GR00249-S 9.74 ADRB3 GCG GHRL MC4R SH2B1
7 Decreased viability GR00381-A-1 9.74 ADRB3 MC3R PYY
8 Decreased viability GR00381-A-3 9.74 MC3R
9 Decreased viability GR00386-A-1 9.74 CCK GCG MC3R POMC PPARG SIM1
10 Decreased viability GR00402-S-2 9.74 HCRT MC3R MC4R NPY PYY RETN

MGI Mouse Phenotypes related to Leptin Deficiency or Dysfunction:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 10.4 ADIPOQ ADRB3 AGRP GHRL INS LEP
2 behavior/neurological MP:0005386 10.38 ADIPOQ ADRB3 AGRP CCK GHRL HCRT
3 homeostasis/metabolism MP:0005376 10.38 ADIPOQ ADRB3 AGRP CCK GHRL HCRT
4 growth/size/body region MP:0005378 10.34 ADIPOQ ADRB3 AGRP HCRT INS LEP
5 endocrine/exocrine gland MP:0005379 10.2 ADIPOQ ADRB3 CCK GHRL INS LEP
6 immune system MP:0005387 10.11 ADIPOQ CCK INS LEP LEPR MC3R
7 nervous system MP:0003631 10.07 ADIPOQ AGRP CCK HCRT INS LEP
8 liver/biliary system MP:0005370 10.02 ADIPOQ AGRP INS LEP LEPR MC4R
9 no phenotypic analysis MP:0003012 9.7 AGRP CCK INS LEPR MC4R POMC
10 normal MP:0002873 9.61 AGRP GHRL INS LEPR MC4R NPY
11 renal/urinary system MP:0005367 9.28 ADIPOQ CCK INS LEP LEPR NPY
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 411)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
3
Nadroparin Approved, Investigational Phase 4
4
Octreotide Approved, Investigational Phase 4 83150-76-9 6400441 383414
5
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
6
Cefazolin Approved Phase 4 25953-19-9 33255 656510
7
Tocopherol Approved, Investigational Phase 4 1406-66-2
8
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
9
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
10
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
11
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
12
Atorvastatin Approved Phase 4 134523-00-5 60823
13
Micafungin Approved, Investigational Phase 4 235114-32-6 3081921 477468
14
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
15
Amphotericin B Approved, Investigational Phase 4 1397-89-3 14956 5280965
16
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
17
Posaconazole Approved, Investigational, Vet_approved Phase 4 171228-49-2 147912
18
Loperamide Approved Phase 4 53179-11-6 3955
19
chenodeoxycholic acid Approved Phase 4 474-25-9 10133
20
Phentermine Approved, Illicit Phase 4 122-09-8 4771
21
Anidulafungin Approved, Investigational Phase 4 166663-25-8 166548
22
Clarithromycin Approved Phase 4 81103-11-9 84029
23
Bismuth subsalicylate Approved, Vet_approved Phase 4 14882-18-9 53629521
24
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
25
Coal tar Approved Phase 4 8007-45-2
26
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
27
Ofloxacin Approved Phase 4 82419-36-1 4583
28
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
29
Icodextrin Approved, Investigational Phase 4 337376-15-5
30
Polyestradiol phosphate Approved Phase 4 28014-46-2
31
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
32
Leuprolide Approved, Investigational Phase 4 53714-56-0 3911 657181
33
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
34
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
35
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
36
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
37
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
38
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
39
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
40
Enclomiphene Investigational Phase 4 15690-57-0
41 Tocotrienol Investigational Phase 4 6829-55-6
42 Citrate Phase 4
43 Neuromuscular Nondepolarizing Agents Phase 4
44 Neuromuscular Blocking Agents Phase 4
45 Trace Elements Phase 4
46 Micronutrients Phase 4
47 Nutrients Phase 4
48 Calciferol Phase 4
49 Zuclomiphene Phase 4
50 Estrogen Receptor Modulators Phase 4

Interventional clinical trials:

(show top 50) (show all 871)
# Name Status NCT ID Phase Drugs
1 Correlation of Postoperative VAS Values and Body Mass Index in Patients Undergoing Abdominal Surgery: A Clinical Trial Unknown status NCT02017314 Phase 4 Morphine
2 A Study of the Pharmacokinetics of Dexmedetomidine in Morbid Obesity. Unknown status NCT01864187 Phase 4 Dexmedetomidine
3 Evaluation of the Effects of Laying Early (Between 12 and 16) a Gastric Band on the Prevention of Morbid Obesity in Late Adolescence. Randomized Checked Against Standard Management of Obesity in This Population. Unknown status NCT01700738 Phase 4
4 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 Prospective Randomized Study of Effects of Laparoscopic Roux-en-Y Gastric Bypass Versus Laparoscopic Sleeve Gastrectomy Unknown status NCT00667706 Phase 4
6 International, Multi Centre, Open, Prospective, Randomized Study: Banded Versus Conventional Laparoscopic Roux-en-Y (GABY) Unknown status NCT01015469 Phase 4
7 Gut Hormones as Mediators of Different Weight Loss Responses After Roux-en-Y Gastric Bypass Unknown status NCT02374632 Phase 4
8 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
9 The Effect Of Vitamin D Replacement Therapy On Serum Leptin And Follicular Growth Pattern In Women With Resistant Polycystic Ovarian Syndrome Unknown status NCT03806036 Phase 4 Vitamin D;Clomiphene Citrate
10 Comparisons of iv Ibuprofen and iv Paracetamol for Postoperative Pain Levels and Opioid Consumption During Bariatric Surgery Completed NCT02778958 Phase 4 paracetamol;ibuprofen
11 A Prospective Randomized Clinical Trial Evaluating Surgical Conditions During Laparoscopic Bariatric Surgery With Deep Versus Moderate Neuromuscular Blockade Completed NCT02703909 Phase 4 Rocuronium
12 Effects of EPA Alone and Combined With Vitamin E on Blood Leptin, Adiponectin and Enzymatic Antioxidants Levels in Type II Diabetic Patients; A Randomized, Double-Blind, Placebo-Controlled Trial Completed NCT00817622 Phase 4
13 Vitamin Deficiencies and Suppletion in Morbid Obesity Completed NCT02270749 Phase 4 Hydroxocobalamin;FitForMe vitamin B12
14 Randomized Clinical Trial Between Laparoscopic Gastric Bypass and Laparoscopic Vertical Banded Gastroplasty for Morbid Obesity Completed NCT01639677 Phase 4
15 Population Pharmacokinetics and Pharmacodynamics of Propofol in the Morbidly Obese Patient Completed NCT00395681 Phase 4 Diprivan
16 Investigations on the Influence of Bariatric Surgery on the Metabolism and Absorption of Atorvastatin Completed NCT00331565 Phase 4
17 Micafungin (Mycamine®) Pharmacokinetics Given as a Single Intravenous Dose to Obese Patients (MICADO). Completed NCT03102658 Phase 4 Micafungin
18 A Comparison of Cerebral Oximetry After Propofol-Based Total Intravenous Anesthesia and Sevoflurane Inhalation Anesthesia in Morbidly Obese Patients Undergoing LSG: a Prospective, Single-Blinded, Randomized, Parallel-Group Study. Completed NCT03946657 Phase 4 Inhalational anesthetic;Intravenous anesthetic
19 Pharmacokinetics of Intravenous Acetaminophen and Its Metabolites in Morbidly Obese Patients Completed NCT01764555 Phase 4 acetaminophen 2 g
20 Pharmacokinetics of Liposomal Amphotericin B (AmBisome®) Given Intravenously to Patients Undergoing Bariatric Surgery Completed NCT02320604 Phase 4 Administration of study drug
21 A Randomized Controlled Trial for Epidural Labor Analgesia: Comparison of Dural Puncture Epidural With Standard Labor Epidural Techniques Completed NCT03074695 Phase 4 Dural puncture epidural (DPE);Standard Epidural (EPL)
22 CYP3A4 Metabolism Before and After Surgery Induced Weight Loss in Morbidly Obese Patients Using Midazolam as a Model Drug Completed NCT01519726 Phase 4 Midazolam
23 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
24 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
25 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
26 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
27 Efficacy and Tolerability of Garcinia Mangostana Extracts in the Management of Weight Loss in Severe Obese Patients Completed NCT02823561 Phase 4
28 Effect of Bile Acids and Bile Acid Sequstrants on GLP-1 Secretion After Roux-en-Y Gastric Bypass Completed NCT02952963 Phase 4 Chenodeoxycholic Acid;Colesevelam
29 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
30 Effects of Chenodeoxycholic Acid and Colesevelam on GLP-1 Secretion, During a Meal, After Roux-en-Y Gastric Bypass Completed NCT02876484 Phase 4 Colesevelam;Chenodeoxycholic Acid
31 Aromatase Inhibitors and Weight Loss in Severely Obese Hypogonadal Male Veterans (Pilot) Completed NCT02959853 Phase 4 Anastrazole
32 Pharmacokinetics (PK) of Propofol in Bariatric (Morbidly Obese) Patients Completed NCT01536002 Phase 4 Propofol
33 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
34 THE EFFECT OF HELICOBACTER PYLORI ERADICATION THERAPY TO GASTRIC WALL THICKNESS BEFORE THE LAPAROSCOPIC SLEEVE GASTRECTOMY Completed NCT03757650 Phase 4 Bismuth Subsalicylate
35 Clinical, Microbial and Biochemistry Evaluation of Obese Individuals Submitted to One-stage Full-mouth Disinfection. A Clinical Control Parallel Study Completed NCT03103204 Phase 4
36 Effectiveness and Tolerability of Phentermine in the Reduction of Intrahepatic Fat Infiltration, Adipose Tissue and Postoperative Complications in Patients Under Bariatric Surgery Completed NCT03849729 Phase 4 Phentermine
37 Increased Cefazolin (Ancef) Dosing for Prophylaxis During Cesarean Delivery in the Obese Population Completed NCT02049944 Phase 4 Cefazolin
38 Effect of Bisphosphonate Use on Surgical Weight Loss Associated Bone Loss in Older Adults With Morbid Obesity Completed NCT03411902 Phase 4 Risedronate Sodium 150 MG
39 The Role of Leptin in Modulating Vascular Tone and Endothelial Function in Obese and Normal Weight Adults: A Vascular-Protective Effect of Leptin? Completed NCT00121433 Phase 4 leptin
40 Levofloxacin Pharmacokinetics in the Severely Obese Completed NCT00176306 Phase 4 Levofloxacin 750 mg IV
41 Effects of Non-Glucose-Based Peritoneal Dialysis Solution "EXTRANEAL" on Changes in Leptin Levels and Sympathetic Activity Induced by Conventional Glucose-Based Dialysate "DIANEAL" in Patients on Peritoneal Dialysis Completed NCT01228279 Phase 4
42 Leptin and Ghrelin in ICU Completed NCT02282501 Phase 4
43 Menopausal Sleep Fragmentation: Impact on Body Fat Gain Biomarkers in Women Recruiting NCT03047330 Phase 4 Leuprolide Acetate
44 Impact of Sugammadex vs. Neostigmine Reversal on Post-Operative Recovery And Postoperative Complications In Patients With Obstructive Sleep Apnea Undergoing Bariatric Surgery: A Double-Blind, Randomized Controlled Trial Recruiting NCT03679611 Phase 4 Sugammadex Sodium;Neostigmine
45 Quadratus Lumborum II Block vs Conventional Therapy Alone For Laparoscopic Sleeve Gastrectomy Recruiting NCT04073056 Phase 4 Bupivacaine
46 ED90 for Hyperbaric Bupivacaine in Spinal Anesthesia for Cesarean Delivery in Super Obese Parturients Recruiting NCT03781388 Phase 4 Bupivacaine
47 Preoperative Carbohydrate Loading in Bariatric Surgery - Randomized Clinical Trail Recruiting NCT04486079 Phase 4
48 Aromatase Inhibitors and Weight Loss in Severely Obese Men With Hypogonadism Recruiting NCT03490513 Phase 4 anastrozole (1 mg/day);Placebo
49 A Multicenter Study of the Effect of Recombinant Human Growth Hormone on Leptin and Cytokines in Relation to Body Composition in Pediatric Patients With Growth Failure Due to Chronic Kidney Disease (CKD) Terminated NCT00194961 Phase 4 Recombinant Human Growth Hormone
50 Randomized, Prospective, Double-blind Trial of PPI vs Placebo in Prevention of Gastrojejunal Strictures After Laparoscopic Roux-en-Y Gastric Bypass for Morbid Obesity Withdrawn NCT00361985 Phase 4 Esomeprazole;Esomeprazole

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, Adipocyte, Bone, Kidney, T Cells, Brain, Thyroid
Sources

Publications for Leptin Deficiency or Dysfunction

About this section

Articles related to Leptin Deficiency or Dysfunction:

(show top 50) (show all 8616)
# Title Authors PMID Year
1
Phenotypic effects of leptin replacement on morbid obesity, diabetes mellitus, hypogonadism, and behavior in leptin-deficient adults. 57 6 54 61
15070752 2004
2
A leptin missense mutation associated with hypogonadism and morbid obesity. 6 57 61 54
9500540 1998
3
Biologically inactive leptin and early-onset extreme obesity. 57 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. 6 57
15472169 2004
5
Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. 57 6
12393845 2002
6
Congenital leptin deficiency is associated with severe early-onset obesity in humans. 57 6
9202122 1997
7
Leptin replacement alters brain response to food cues in genetically leptin-deficient adults. 57 54 61
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. 54 61 57
10523015 1999
9
A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction. 54 61 6
9537324 1998
10
Positional cloning of the mouse obese gene and its human homologue. 54 61 57
7984236 1994
11
Interleukin-18, together with interleukin-12, induces severe acute pancreatitis in obese but not in nonobese leptin-deficient mice. 57
18515422 2008
12
A role for leptin in sustaining lymphopoiesis and myelopoiesis. 57
18250302 2008
13
Leptin regulates striatal regions and human eating behavior. 57
17690262 2007
14
Efficacy and safety of leptin-replacement therapy and possible mechanisms of leptin actions in patients with generalized lipodystrophy. 57
17118991 2007
15
Is leptin an important physiological regulator of CRP? 57
17206122 2007
16
Induction of leptin resistance through direct interaction of C-reactive protein with leptin. 57
16582918 2006
17
Complete rescue of obesity, diabetes, and infertility in db/db mice by neuron-specific LEPR-B transgenes. 6
16284652 2005
18
Disruption of leptin signaling contributes to cardiac hypertrophy independently of body weight in mice. 57
12885755 2003
19
Leptin-deficient mice exhibit impaired host defense in Gram-negative pneumonia. 57
11937559 2002
20
Partial leptin deficiency and human adiposity. 57
11689931 2001
21
Weekly subcutaneous pegylated recombinant native human leptin (PEG-OB) administration in obese men. 57
11095423 2000
22
Leptin inhibits bone formation through a hypothalamic relay: a central control of bone mass. 57
10660043 2000
23
Peroxisome proliferator-activated receptor gamma C161-->T polymorphism and coronary artery disease. 6
10690291 1999
24
Effects of recombinant leptin therapy in a child with congenital leptin deficiency. 57
10486419 1999
25
Obesity associated with a mutation in a genetic regulator of adipocyte differentiation. 6
9753710 1998
26
Effects of mutations in the human uncoupling protein 3 gene on the respiratory quotient and fat oxidation in severe obesity and type 2 diabetes. 6
9769326 1998
27
Abnormal regulation of the leptin gene in the pathogenesis of obesity. 57
9751754 1998
28
Ciliary neurotrophic factor corrects obesity and diabetes associated with leptin deficiency and resistance. 57
9177239 1997
29
Correction of obesity and diabetes in genetically obese mice by leptin gene therapy. 57
8962136 1996
30
Recombinant mouse OB protein: evidence for a peripheral signal linking adiposity and central neural networks. 57
7624778 1995
31
Effects of the obese gene product on body weight regulation in ob/ob mice. 57
7624776 1995
32
Weight-reducing effects of the plasma protein encoded by the obese gene. 57
7624777 1995
33
Genetics. In search of a satiety factor. 57
7984230 1994
34
Obesity genes: beneficial effects in heterozygous mice. 57
760211 1979
35
Thermogenic defect in pre-obese ob/ob mice. 57
840297 1977
36
Diabetes mellitus: a "thrifty" genotype rendered detrimental by "progress"? 57
13937884 1962
37
Obese, a new mutation in the house mouse. 57
14824537 1950
38
Chemerin correlates with markers for fatty liver in morbidly obese patients and strongly decreases after weight loss induced by bariatric surgery. 61 54
20375212 2010
39
The relationships between IGF-1 and CRP, NO, leptin, and adiponectin during weight loss in the morbidly obese. 54 61
20195789 2010
40
Rates of lipid fluxes in adipose tissue in vivo after a mixed meal in morbid obesity. 61 54
20084071 2010
41
Estradiol and metabolic syndrome in older italian men: The InCHIANTI Study. 54 61
19059904 2010
42
Metabolic syndrome and insulin resistance in subjects with morbid obesity. 61 54
19841991 2010
43
Leptin-signaling pathways and leptin resistance. 61 54
19955780 2010
44
Ala54Thr polymorphism of fatty acid binding protein 2, role on insulin resistance and cardiovascular risk factors in presurgical morbid obesity patients. 61 54
19475463 2009
45
Effects of acute administration of acylated and unacylated ghrelin on glucose and insulin concentrations in morbidly obese subjects without overt diabetes. 54 61
19628651 2009
46
Inflammatory mediators in morbidly obese subjects: associations with glucose abnormalities and changes after oral glucose. 54 61
19542241 2009
47
A novel function of intestinal gluconeogenesis: central signaling in glucose and energy homeostasis. 54 61
19647621 2009
48
[Study of the relationship between adiponectin, interleukin-18, ghrelin and bone mineral density in morbidly obese women after gastric bypass]. 54 61
19883895 2009
49
Rates of glucose uptake in adipose tissue and muscle in vivo after a mixed meal in women with morbid obesity. 61 54
19435828 2009
50
Maternal obesity and markers of inflammation in pregnancy. 61 54
19505831 2009
Sources

Variations for Leptin Deficiency or Dysfunction

About this section

ClinVar genetic disease variations for Leptin Deficiency or Dysfunction:

6 (show top 50) (show all 159)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LEP NM_000230.3(LEP):c.298G>T (p.Asp100Tyr) SNV Pathogenic 162430 rs724159998 GRCh37: 7:127894610-127894610
GRCh38: 7:128254557-128254557
2 LEP LEP, 1-BP DEL, FS147TER Deletion Pathogenic 13986 GRCh37:
GRCh38:
3 LEP NM_000230.3(LEP):c.313C>T (p.Arg105Trp) SNV Pathogenic 13987 rs104894023 GRCh37: 7:127894625-127894625
GRCh38: 7:128254572-128254572
4 LEPR NM_002303.6(LEPR):c.2597+1G>A SNV Pathogenic 8522 rs1474810899 GRCh37: 1:66087142-66087142
GRCh38: 1:65621459-65621459
5 LEPR Deletion Pathogenic 666597 GRCh37: 1:66038010-66067366
GRCh38:
6 UCP3 NM_003356.4(UCP3):c.824+1G>A SNV Pathogenic 7578 rs45476292 GRCh37: 11:73714871-73714871
GRCh38: 11:74003826-74003826
7 PPARG NM_001354669.1(PPARG):c.-180C>A SNV Pathogenic 8130 rs1800571 GRCh37: 3:12422848-12422848
GRCh38: 3:12381349-12381349
8 LEPR NM_002303.5(LEPR):c.3260_3261AG[6] (p.Ser1090fs) Microsatellite Pathogenic 453309 rs1553174844 GRCh37: 1:66102459-66102460
GRCh38: 1:65636776-65636777
9 LEPR NM_001003679.3(LEPR):c.464A>C (p.Tyr155Ser) SNV Pathogenic 619954 rs1557670950 GRCh37: 1:66038102-66038102
GRCh38: 1:65572419-65572419
10 LEPR NM_002303.6(LEPR):c.1069G>T (p.Glu357Ter) SNV Pathogenic 1029586 GRCh37: 1:66067149-66067149
GRCh38: 1:65601466-65601466
11 LEP NM_000230.3(LEP):c.461T>C (p.Leu154Pro) SNV Likely pathogenic 448905 rs1554394014 GRCh37: 7:127894773-127894773
GRCh38: 7:128254720-128254720
12 LEP NM_000230.3(LEP):c.*300C>T SNV Uncertain significance 358824 rs191600447 GRCh37: 7:127895116-127895116
GRCh38: 7:128255063-128255063
13 LEP NM_000230.3(LEP):c.*1640C>T SNV Uncertain significance 358837 rs201065449 GRCh37: 7:127896456-127896456
GRCh38: 7:128256403-128256403
14 LEP NM_000230.3(LEP):c.*2738G>A SNV Uncertain significance 358852 rs201644572 GRCh37: 7:127897554-127897554
GRCh38: 7:128257501-128257501
15 LEPR NM_001003679.3(LEPR):c.-20-15A>T SNV Uncertain significance 297985 rs116571599 GRCh37: 1:66031214-66031214
GRCh38: 1:65565531-65565531
16 LEPR NM_002303.5(LEPR):c.*201C>T SNV Uncertain significance 298007 rs577287309 GRCh37: 1:66102899-66102899
GRCh38: 1:65637216-65637216
17 LEPR NM_002303.5(LEPR):c.*188A>C SNV Uncertain significance 298006 rs886046507 GRCh37: 1:66102886-66102886
GRCh38: 1:65637203-65637203
18 LEPR NM_002303.5(LEPR):c.2970C>G (p.Ile990Met) SNV Uncertain significance 297998 rs751719702 GRCh37: 1:66102170-66102170
GRCh38: 1:65636487-65636487
19 LEPR NM_002303.5(LEPR):c.*403T>C SNV Uncertain significance 298009 rs375886561 GRCh37: 1:66103101-66103101
GRCh38: 1:65637418-65637418
20 LEPROT , LEPR NM_017526.5(LEPROT):c.-8C>T SNV Uncertain significance 297983 rs189950527 GRCh37: 1:65886400-65886400
GRCh38: 1:65420717-65420717
21 LEPROT , LEPR NM_017526.5(LEPROT):c.-49C>T SNV Uncertain significance 297981 rs372078226 GRCh37: 1:65886359-65886359
GRCh38: 1:65420676-65420676
22 LEPR NM_002303.5(LEPR):c.*112T>C SNV Uncertain significance 298005 rs886046506 GRCh37: 1:66102810-66102810
GRCh38: 1:65637127-65637127
23 LEPR NM_002303.5(LEPR):c.3078T>C (p.Asn1026=) SNV Uncertain significance 298001 rs34130975 GRCh37: 1:66102278-66102278
GRCh38: 1:65636595-65636595
24 LEPR NM_002303.5(LEPR):c.3114A>G (p.Ile1038Met) SNV Uncertain significance 298002 rs886046505 GRCh37: 1:66102314-66102314
GRCh38: 1:65636631-65636631
25 LEPROT , LEPR NM_002303.6(LEPR):c.-162C>A SNV Uncertain significance 873955 GRCh37: 1:65886358-65886358
GRCh38: 1:65420675-65420675
26 LEPR NM_002303.6(LEPR):c.1018A>G (p.Ile340Val) SNV Uncertain significance 874014 GRCh37: 1:66067098-66067098
GRCh38: 1:65601415-65601415
27 LEPR NM_002303.6(LEPR):c.1030G>A (p.Val344Ile) SNV Uncertain significance 874015 GRCh37: 1:66067110-66067110
GRCh38: 1:65601427-65601427
28 LEPR NM_002303.6(LEPR):c.1040A>G (p.Asn347Ser) SNV Uncertain significance 874016 GRCh37: 1:66067120-66067120
GRCh38: 1:65601437-65601437
29 LEPR NM_002303.6(LEPR):c.1157A>G (p.Asp386Gly) SNV Uncertain significance 874017 GRCh37: 1:66067237-66067237
GRCh38: 1:65601554-65601554
30 LEPR NM_002303.6(LEPR):c.1299T>C (p.Asn433=) SNV Uncertain significance 874018 GRCh37: 1:66067539-66067539
GRCh38: 1:65601856-65601856
31 LEPR NM_002303.6(LEPR):c.3437A>T (p.Gln1146Leu) SNV Uncertain significance 874074 GRCh37: 1:66102637-66102637
GRCh38: 1:65636954-65636954
32 LEPR NM_002303.6(LEPR):c.*48G>C SNV Uncertain significance 874075 GRCh37: 1:66102746-66102746
GRCh38: 1:65637063-65637063
33 LEPR NM_002303.6(LEPR):c.*99A>G SNV Uncertain significance 874076 GRCh37: 1:66102797-66102797
GRCh38: 1:65637114-65637114
34 LEPROT , LEPR NM_002303.6(LEPR):c.-51T>G SNV Uncertain significance 874897 GRCh37: 1:65891031-65891031
GRCh38: 1:65425348-65425348
35 LEPR NM_002303.6(LEPR):c.1341C>T (p.Cys447=) SNV Uncertain significance 874950 GRCh37: 1:66067581-66067581
GRCh38: 1:65601898-65601898
36 LEPR NM_002303.6(LEPR):c.1374G>A (p.Ala458=) SNV Uncertain significance 874951 GRCh37: 1:66067614-66067614
GRCh38: 1:65601931-65601931
37 LEPR NM_002303.6(LEPR):c.1413T>A (p.Leu471=) SNV Uncertain significance 874952 GRCh37: 1:66070730-66070730
GRCh38: 1:65605047-65605047
38 LEPR NM_002303.6(LEPR):c.1635A>G (p.Ala545=) SNV Uncertain significance 874953 GRCh37: 1:66074467-66074467
GRCh38: 1:65608784-65608784
39 LEPR NM_002303.6(LEPR):c.1701C>T (p.Asn567=) SNV Uncertain significance 874954 GRCh37: 1:66074533-66074533
GRCh38: 1:65608850-65608850
40 LEPR NM_002303.6(LEPR):c.2046C>T (p.Asn682=) SNV Uncertain significance 874955 GRCh37: 1:66081741-66081741
GRCh38: 1:65616058-65616058
41 LEPR NM_002303.6(LEPR):c.*153A>G SNV Uncertain significance 875003 GRCh37: 1:66102851-66102851
GRCh38: 1:65637168-65637168
42 LEP NM_000230.3(LEP):c.*204C>T SNV Uncertain significance 358823 rs113405088 GRCh37: 7:127895020-127895020
GRCh38: 7:128254967-128254967
43 LEP NM_000230.3(LEP):c.*360G>A SNV Uncertain significance 358825 rs200748706 GRCh37: 7:127895176-127895176
GRCh38: 7:128255123-128255123
44 LEP NM_000230.3(LEP):c.*1428C>A SNV Uncertain significance 358835 rs76601079 GRCh37: 7:127896244-127896244
GRCh38: 7:128256191-128256191
45 LEP NM_000230.3(LEP):c.*2224G>A SNV Uncertain significance 358843 rs28959472 GRCh37: 7:127897040-127897040
GRCh38: 7:128256987-128256987
46 LEP NM_000230.3(LEP):c.*1678C>T SNV Uncertain significance 358838 rs188857005 GRCh37: 7:127896494-127896494
GRCh38: 7:128256441-128256441
47 LEP NM_000230.3(LEP):c.*2595C>T SNV Uncertain significance 358851 rs28959475 GRCh37: 7:127897411-127897411
GRCh38: 7:128257358-128257358
48 LEP NM_000230.3(LEP):c.*422G>C SNV Uncertain significance 358828 rs886061975 GRCh37: 7:127895238-127895238
GRCh38: 7:128255185-128255185
49 LEP NM_000230.3(LEP):c.*1260A>G SNV Uncertain significance 358834 rs144195028 GRCh37: 7:127896076-127896076
GRCh38: 7:128256023-128256023
50 LEP NM_000230.3(LEP):c.*2799C>T SNV Uncertain significance 358853 rs200887574 GRCh37: 7:127897615-127897615
GRCh38: 7:128257562-128257562

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

72
# 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

About this section
LifeMap Discovery
Genes differentially expressed in tissues of Leptin Deficiency or Dysfunction patients vs. healthy controls: 35
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 GAPDH glyceraldehyde-3-phosphate dehydrogenase Skeletal Muscle - 5.09 0.006
2 SLN sarcolipin Skeletal Muscle - 4.64 0.007
Search GEO for disease gene expression data for Leptin Deficiency or Dysfunction.
Sources

Pathways for Leptin Deficiency or Dysfunction

About this section

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 20)
# Super pathways Score Top Affiliating Genes
1
Signaling by GPCR 65
Show member pathways
 14.04 SH2B1 PYY POMC NPY MC4R MC3R
2
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 65
Show member pathways
 13.29 UCP3 PPARG LEPR LEP INS GCG
3
Peptide ligand-binding receptors 65
Show member pathways
 13.22 PYY POMC NPY MC4R MC3R LEPR
4
Glucose / Energy Metabolism 4
12.44 UCP3 PPARG INS GCG ADIPOQ
5
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.39 PPARG LEPR LEP INS ADIPOQ
6
Prolactin Signaling Pathway 1 36
Show member pathways
 12.34 SH2B1 LEPR LEP INS
7
cAMP signaling pathway 36
12.22 POMC NPY GHRL GCG
8
Peptide hormone metabolism 65
Show member pathways
 12.06 POMC LEP INS GHRL GCG
10
G alpha (s) signalling events 65
11.93 POMC MC4R MC3R GCG ADRB3
11
Adipogenesis 1
11.84 RETN PPARG LEP INS ADIPOQ
12
Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.76 PPARG LEP INS ADIPOQ
13
Regulation of lipolysis in adipocytes 36
11.51 NPY INS ADRB3
14
Signaling events mediated by PTP1B 1
11.44 LEPR LEP INS
15
Adipocytokine signaling pathway 36
11.27 POMC NPY LEPR LEP AGRP ADIPOQ
16
Development_Leptin signaling via JAK/STAT and MAPK cascades 23
Show member pathways
 11.18 POMC LEPR LEP
17
Differentiation of white and brown adipocyte 1
11.08 PPARG LEP ADIPOQ
18
Transcription factor regulation in adipogenesis 1
10.98 PPARG LEP ADIPOQ
19
Syndecan-3-mediated signaling events 1
10.84 POMC MC4R AGRP
20
Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics 60
10.58 PYY POMC NPY MC4R LEPR LEP
Sources

GO Terms for Leptin Deficiency or Dysfunction

About this section

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 NPY LEP INS
2 secretory granule lumen GO:0034774 9.46 POMC INS GHRL GCG
3 extracellular region GO:0005576 9.44 RETN PYY POMC NPY LEPR LEP

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

(show all 39)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.26 SH2B1 RETN PPARG POMC MC4R MC3R
2 G protein-coupled receptor signaling pathway GO:0007186 9.93 PYY PPARG POMC NPY MC4R MC3R
3 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.89 MC4R MC3R GCG ADRB3
4 response to nutrient GO:0007584 9.88 UCP3 PPARG LEP ADIPOQ
5 neuropeptide signaling pathway GO:0007218 9.88 PYY POMC NPY HCRT AGRP
6 response to insulin GO:0032868 9.87 UCP3 RETN LEP AGRP
7 cellular response to insulin stimulus GO:0032869 9.85 PPARG LEP ADIPOQ
8 circadian rhythm GO:0007623 9.85 LEP AGRP ADIPOQ
9 glucose metabolic process GO:0006006 9.85 LEP INS GHRL ADIPOQ
10 response to nutrient levels GO:0031667 9.84 LEP GHRL ADIPOQ
11 adenylate cyclase-modulating G protein-coupled receptor signaling pathway GO:0007188 9.84 MC4R MC3R GCG ADRB3
12 negative regulation of tumor necrosis factor production GO:0032720 9.83 POMC GHRL ADIPOQ
13 regulation of blood pressure GO:0008217 9.83 PPARG POMC NPY MC3R LEP
14 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.81 NPY MC3R ADRB3
15 response to activity GO:0014823 9.81 UCP3 LEP GCG ADIPOQ
16 hormone-mediated signaling pathway GO:0009755 9.79 PPARG GHRL AGRP
17 generation of precursor metabolites and energy GO:0006091 9.78 POMC ADRB3 ADIPOQ
18 regulation of metabolic process GO:0019222 9.76 MC4R MC3R LEP
19 eating behavior GO:0042755 9.76 LEP HCRT CCK AGRP
20 negative regulation of gluconeogenesis GO:0045721 9.73 LEPR INS ADIPOQ
21 positive regulation of cold-induced thermogenesis GO:0120162 9.73 LEPR LEP HCRT GHRL ADRB3 ADIPOQ
22 energy reserve metabolic process GO:0006112 9.71 MC4R LEPR LEP ADRB3
23 fatty acid oxidation GO:0019395 9.68 PPARG ADIPOQ
24 negative regulation of macrophage derived foam cell differentiation GO:0010745 9.67 PPARG ADIPOQ
25 negative regulation of feeding behavior GO:2000252 9.67 RETN MC4R INS
26 regulation of feeding behavior GO:0060259 9.67 MC4R MC3R LEPR AGRP
27 leptin-mediated signaling pathway GO:0033210 9.66 LEPR LEP
28 negative regulation of appetite GO:0032099 9.66 LEP CCK
29 sexual reproduction GO:0019953 9.65 LEPR LEP
30 intestinal epithelial cell differentiation GO:0060575 9.65 PYY NPY
31 negative regulation of acute inflammatory response GO:0002674 9.64 PPARG INS
32 positive regulation of feeding behavior GO:2000253 9.63 GHRL AGRP
33 bone growth GO:0098868 9.63 LEPR LEP
34 regulation of bone remodeling GO:0046850 9.62 LEPR LEP
35 adult feeding behavior GO:0008343 9.62 NPY LEP GHRL AGRP
36 positive regulation of fatty acid metabolic process GO:0045923 9.61 PPARG ADIPOQ
37 positive regulation of appetite GO:0032100 9.6 NPY GHRL
38 glucose homeostasis GO:0042593 9.5 PPARG POMC LEPR LEP INS GCG
39 feeding behavior GO:0007631 9.1 PYY NPY MC4R HCRT GCG AGRP

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.73 POMC NPY LEP GCG AGRP ADIPOQ
2 peptide hormone binding GO:0017046 9.61 MC4R MC3R LEPR
3 peptide hormone receptor binding GO:0051428 9.48 LEP CCK
4 melanocortin receptor activity GO:0004977 9.46 MC4R MC3R
5 G protein-coupled receptor binding GO:0001664 9.46 PYY POMC NPY GHRL
6 type 1 melanocortin receptor binding GO:0070996 9.4 POMC AGRP
7 neuropeptide Y receptor binding GO:0031841 9.37 PYY NPY
8 neuropeptide hormone activity GO:0005184 9.35 PYY NPY HCRT CCK AGRP
9 melanocyte-stimulating hormone receptor activity GO:0004980 9.32 MC4R MC3R
10 hormone activity GO:0005179 9.32 RETN PYY POMC NPY LEP INS
Sources

Sources for Leptin Deficiency or Dysfunction

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....